Margaret Ann Pericak-Vance

Journal Article Neurobiol Aging · August 2006 We previously reported a linkage region on chromosome 10q for age-at-onset (AAO) of Alzheimer (AD) and Parkinson (PD) diseases. Glutathione S-transferase, omega-1 (GSTO1) and the adjacent gene GSTO2, located in this linkage region, were then reported to as ... Full text Link to item Cite

A new locus for dominant hereditary spastic paraplegia maps to chromosome 2p12.

Journal Article Neurogenetics · May 2006 Full text Link to item Cite

Lack of association between UBQLN1 and Alzheimer disease.

Journal Article Am J Med Genet B Neuropsychiatr Genet · April 5, 2006 Alzheimer disease (AD) is heterogeneous and complex with a strong genetic diathesis. It is the most common cause of dementia affecting the elderly. Linkage studies [Kehoe et al., 1999; Hum Mol Genet 8: 237-245]; [Pericak-Vance et al., 2000; Exp Gerontol 35 ... Full text Link to item Cite

A genome-wide linkage analysis of dementia in the Amish.

Journal Article Am J Med Genet B Neuropsychiatr Genet · March 5, 2006 Susceptibility genes for Alzheimer's disease are proving to be highly challenging to detect and verify. Population heterogeneity may be a significant confounding factor contributing to this difficulty. To increase the power for disease susceptibility gene ... Full text Link to item Cite

Combinatorial Mismatch Scan (CMS) for loci associated with dementia in the Amish.

Journal Article BMC Med Genet · March 3, 2006 BACKGROUND: Population heterogeneity may be a significant confounding factor hampering detection and verification of late onset Alzheimer's disease (LOAD) susceptibility genes. The Amish communities located in Indiana and Ohio are relatively isolated popul ... Full text Link to item Cite

Covariate analysis of late-onset Alzheimer disease refines the chromosome 12 locus.

Journal Article Mol Psychiatry · March 2006 Alzheimer disease (AD) is a progressive neurodegenerative disorder of later life with a complex etiology and a strong genetic component. Several genomic screens have suggested that a region between chromosome 12p13 and 12q22 contains at least one additiona ... Full text Link to item Cite

A genome-wide search for linkage to asthma phenotypes in the genetics of asthma international network families: evidence for a major susceptibility locus on chromosome 2p.

Journal Article Eur J Hum Genet · March 2006 Asthma is a complex disease and the intricate interplay between genetic and environmental factors underlies the overall phenotype of the disease. Families with at least two siblings with asthma were collected from Europe, Australia and the US. A genome sca ... Full text Link to item Cite

Differences in apolipoprotein E3/3 and E4/4 allele-specific gene expression in hippocampus in Alzheimer disease.

Journal Article Neurobiol Dis · February 2006 Apolipoprotein E4 (APOE4) allele is a major risk factor for late-onset familial and sporadic Alzheimer disease (AD). The mechanism of action of APOE in the etiology of AD remains unclear. Using gene expression (microarray) analysis of human hippocampus fro ... Full text Link to item Cite

Functional candidate genes in age-related macular degeneration: significant association with VEGF, VLDLR, and LRP6.

Journal Article Invest Ophthalmol Vis Sci · January 2006 PURPOSE: Age-related macular degeneration (AMD) is a retinal degenerative disease that is the leading cause of blindness worldwide for individuals over the age of 60. Although the etiology of AMD remains largely unknown, numerous studies have suggested tha ... Full text Link to item Cite

Examination of seven candidate regions for multiple sclerosis: strong evidence of linkage to chromosome 1q44.

Journal Article Genes Immun · January 2006 Multiple sclerosis (MS) is a debilitating neuroimmunological and neurodegenerative disease with a strong genetic component. Numerous studies have failed to consistently identify genes that confer disease susceptibility except for association with HLA-DR. S ... Full text Link to item Cite

SNPselector: a web tool for selecting SNPs for genetic association studies.

Journal Article Bioinformatics · November 15, 2005 SUMMARY: Single nucleotide polymorphisms (SNPs) are commonly used for association studies to find genes responsible for complex genetic diseases. With the recent advance of SNP technology, researchers are able to assay thousands of SNPs in a single experim ... Full text Link to item Cite

Joint effects of smoking history and APOE genotypes in age-related macular degeneration.

Journal Article Mol Vis · November 4, 2005 PURPOSE: Age-related macular degeneration (AMD) is a leading cause of severe visual impairment in older adults worldwide. Cigarette smoking is one of the most consistently identified environmental risk factors for the disease. Several studies have implicat ... Link to item Cite

Maternal lineages and Alzheimer disease risk in the Old Order Amish.

Journal Article Hum Genet · October 2005 Old Order Amish, founded by a small number of Swiss immigrants, exist in culturally isolated communities across rural North America. The consequences of genetic isolation and inbreeding within this group are evident by increased frequencies of many monogen ... Full text Link to item Cite

Interaction between the alpha-T catenin gene (VR22) and APOE in Alzheimer's disease.

Journal Article J Med Genet · October 2005 BACKGROUND: APOE is the only gene that has been consistently replicated as a risk factor for late onset Alzheimer's disease. Several recent studies have identified linkage to chromosome 10 for both risk and age of onset, suggesting that this region harbour ... Full text Link to item Cite

Subcellular localization of spastin: implications for the pathogenesis of hereditary spastic paraplegia.

Journal Article Neurogenetics · September 2005 Hereditary spastic paraplegia (HSP) is a group of clinically and genetically heterogeneous diseases characterized by neuronal degeneration that is maximal at the distal ends of the longest axons of the central nervous system. The most common cause of autos ... Full text Link to item Cite

A high-density screen for linkage in multiple sclerosis.

Journal Article Am J Hum Genet · September 2005 To provide a definitive linkage map for multiple sclerosis, we have genotyped the Illumina BeadArray linkage mapping panel (version 4) in a data set of 730 multiplex families of Northern European descent. After the application of stringent quality threshol ... Full text Link to item Cite

Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism.

Journal Article Am J Hum Genet · September 2005 Autism is a common neurodevelopmental disorder with a significant genetic component. Existing research suggests that multiple genes contribute to autism and that epigenetic effects or gene-gene interactions are likely contributors to autism risk. However, ... Full text Link to item Cite

Meta-analysis of genome scans of age-related macular degeneration.

Journal Article Hum Mol Genet · August 1, 2005 A genetic contribution to the development of age-related macular degeneration (AMD) is well established. Several genome-wide linkage studies have identified a number of putative susceptibility loci for AMD but only a few of these regions have been replicat ... Full text Link to item Cite

Identification of risk and age-at-onset genes on chromosome 1p in Parkinson disease.

Journal Article Am J Hum Genet · August 2005 We previously reported a linkage region on chromosome 1p (LOD = 3.41) for genes controlling age at onset (AAO) in Parkinson disease (PD). This region overlaps with the previously reported PARK10 locus. To identify the gene(s) associated with AAO and risk o ... Full text Link to item Cite

The ubiquilin 1 gene and Alzheimer's disease.

Journal Article N Engl J Med · June 30, 2005 Full text Link to item Cite

Revealing the role of glutathione S-transferase omega in age-at-onset of Alzheimer and Parkinson diseases.

A new locus for dominant hereditary spastic paraplegia maps to chromosome 2p12.

Journal Article Neurogenetics · May 2006 Full text Link to item Cite

Lack of association between UBQLN1 and Alzheimer disease.

A genome-wide linkage analysis of dementia in the Amish.

Combinatorial Mismatch Scan (CMS) for loci associated with dementia in the Amish.

Covariate analysis of late-onset Alzheimer disease refines the chromosome 12 locus.

A genome-wide search for linkage to asthma phenotypes in the genetics of asthma international network families: evidence for a major susceptibility locus on chromosome 2p.

Differences in apolipoprotein E3/3 and E4/4 allele-specific gene expression in hippocampus in Alzheimer disease.

Functional candidate genes in age-related macular degeneration: significant association with VEGF, VLDLR, and LRP6.

Examination of seven candidate regions for multiple sclerosis: strong evidence of linkage to chromosome 1q44.

SNPselector: a web tool for selecting SNPs for genetic association studies.

Joint effects of smoking history and APOE genotypes in age-related macular degeneration.

Maternal lineages and Alzheimer disease risk in the Old Order Amish.

Interaction between the alpha-T catenin gene (VR22) and APOE in Alzheimer's disease.

Subcellular localization of spastin: implications for the pathogenesis of hereditary spastic paraplegia.

A high-density screen for linkage in multiple sclerosis.

Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism.

Meta-analysis of genome scans of age-related macular degeneration.

Identification of risk and age-at-onset genes on chromosome 1p in Parkinson disease.

The ubiquilin 1 gene and Alzheimer's disease.

Journal Article N Engl J Med · June 30, 2005 Full text Link to item Cite

A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis.

Journal Article Science · June 17, 2005 Focal and segmental glomerulosclerosis (FSGS) is a kidney disorder of unknown etiology, and up to 20% of patients on dialysis have been diagnosed with it. Here we show that a large family with hereditary FSGS carries a missense mutation in the TRPC6 gene o ... Full text Link to item Cite

Association between the neuron-specific RNA-binding protein ELAVL4 and Parkinson disease.

Journal Article Hum Genet · June 2005 Inflammatory processes have been implicated in the cascade of events that lead to nerve cell death. In the nervous system, a number of genes involved in inflammation pathways are regulated post-transcriptionally via the interaction of their mRNAs with spec ... Full text Link to item Cite

Early adult-onset POAG linked to 15q11-13 using ordered subset analysis.

Journal Article Invest Ophthalmol Vis Sci · June 2005 PURPOSE: Primary open-angle glaucoma (POAG) is a complex inherited disorder. It has been demonstrated in other complex disorders that phenotypic heterogeneity may be the result of genetic heterogeneity and that stratification analysis can be used to increa ... Full text Link to item Cite

Analysis of the RELN gene as a genetic risk factor for autism.

Journal Article Mol Psychiatry · June 2005 Several genome-wide screens have indicated the presence of an autism susceptibility locus within the distal long arm of chromosome 7 (7q). Mapping at 7q22 within this region is the candidate gene reelin (RELN). RELN encodes a signaling protein that plays a ... Full text Link to item Cite

An autosomal genomic screen for dementia in an extended Amish family.

Journal Article Neurosci Lett · May 13, 2005 Apolipoprotein E (APOE) is the only universally confirmed susceptibility gene for late-onset Alzheimer disease (LOAD), although many loci are believed to modulate LOAD risk. The genetic homogeneity of isolated populations, such as the Amish, potentially pr ... Full text Link to item Cite

Ordered-subset analysis of savant skills in autism for 15q11-q13.

Journal Article Am J Med Genet B Neuropsychiatr Genet · May 5, 2005 Autism is a complex disorder characterized by genetic and phenotypic heterogeneity. Analysis of phenotypically homogeneous subtypes has been used to both confirm and narrow potential autism linkage regions such as the chromosomal region 15q11-q13. Increase ... Full text Link to item Cite

Comparing age-related macular degeneration phenotype in probands from singleton and multiplex families.

Journal Article Am J Ophthalmol · May 2005 PURPOSE: To compare age-related macular degeneration (AMD) phenotype between probands in singleton and multiplex families to determine whether data from these two groups may be combined for consolidated genetic analyses. DESIGN: Retrospective case-control ... Full text Link to item Cite

Complement factor H variant increases the risk of age-related macular degeneration.

Journal Article Science · April 15, 2005 Age-related macular degeneration (AMD) is a leading cause of visual impairment and blindness in the elderly whose etiology remains largely unknown. Previous studies identified chromosome 1q32 as harboring a susceptibility locus for AMD. We used single-nucl ... Full text Link to item Cite

Statistical Viewer: a tool to upload and integrate linkage and association data as plots displayed within the Ensembl genome browser.

Journal Article BMC Bioinformatics · April 12, 2005 BACKGROUND: To facilitate efficient selection and the prioritization of candidate complex disease susceptibility genes for association analysis, increasingly comprehensive annotation tools are essential to integrate, visualize and analyze vast quantities o ... Full text Link to item Cite

Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease.

Journal Article Nat Genet · March 2005 Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous group of peripheral neuropathies. Different chromosomal loci have been linked with three autosomal dominant, 'intermediate' types of CMT: DI-CMTA, DI-CMTB and DI-CMTC. We refin ... Full text Link to item Cite

The relationship between restrictive and repetitive behaviors in individuals with autism and obsessive compulsive symptoms in parents.

Journal Article Child Psychiatry Hum Dev · 2005 This study investigated the relationship between repetitive behaviors in individuals with autism and obsessive-compulsive behaviors in parents. We hypothesized that repetitive behaviors in probands with autism would be associated with increased obsessive-c ... Full text Link to item Cite

Linkage disequilibrium inflates type I error rates in multipoint linkage analysis when parental genotypes are missing.

Journal Article Hum Hered · 2005 OBJECTIVES: Describe the inflation in nonparametric multipoint LOD scores due to inter-marker linkage disequilibrium (LD) across many markers with varied allele frequencies. METHOD: Using simulated two-generation families with and without parents, we condu ... Full text Link to item Cite

Clinical characteristics of African Americans vs Caucasian Americans with multiple sclerosis.

Journal Article Neurology · December 14, 2004 BACKGROUND: African American (AA) individuals are thought to develop multiple sclerosis (MS) less frequently than Caucasian American (CA) individuals. OBJECTIVE: To compare the clinical characteristics of AA and CA patients with MS. METHODS: The clinical f ... Full text Link to item Cite

Analysis of the autism chromosome 2 linkage region: GAD1 and other candidate genes.

Journal Article Neurosci Lett · December 6, 2004 Autism has a strong and complex genetic component, involving several genes. Genomic screens, including our own, have shown suggestive evidence for linkage over a 20-30 cM region on chromosome 2q31-q33. Two subsequent reports showed that the linkage evidenc ... Full text Link to item Cite

A second-generation genomic screen for multiple sclerosis.

Journal Article Am J Hum Genet · December 2004 Multiple sclerosis (MS) is a debilitating neuroimmunological and neurodegenerative disorder. Despite substantial evidence for polygenic inheritance of the disease, the major histocompatibility complex is the only region that clearly and consistently demons ... Full text Link to item Cite

Apolipoprotein E is associated with age at onset of amyotrophic lateral sclerosis.

Journal Article Neurogenetics · December 2004 Apolipoprotein E (APOE) is a confirmed risk factor for Alzheimer disease. APOE is also involved in several other neurodegenerative disorders, including Parkinson disease and multiple sclerosis. Previous studies of amyotrophic lateral sclerosis (Lou Gehrig ... Full text Link to item Cite

Comprehensive association analysis of APOE regulatory region polymorphisms in Alzheimer disease.

Journal Article Neurogenetics · December 2004 Several recent case-control studies have examined the association between single nucleotide polymorphisms (SNPs) in the promoter region of the apolipoprotein E gene (APOE) and risk of Alzheimer disease (AD), with conflicting results. We assessed the relati ... Full text Link to item Cite

Linkage disequilibrium and haplotype tagging polymorphisms in the Tau H1 haplotype.

Journal Article Neurogenetics · September 2004 We and others have previously detected association of the Tau H1 haplotype on chromosome 17 with risk of idiopathic Parkinson disease (PD). The H1 haplotype appears to have a fundamental importance in neurodegeneration, as multiple studies have shown it is ... Full text Link to item Cite

Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations.

Journal Article Neurogenetics · September 2004 Hereditary spastic paraplegia (HSP) is a genetically heterogeneous neurodegenerative disease characterized by wide variability in phenotypic expression, both within and among families. The most-common cause of autosomal dominant HSP is mutation of the gene ... Full text Link to item Cite

Enhancing linkage analysis of complex disorders: an evaluation of high-density genotyping.

Journal Article Hum Mol Genet · September 1, 2004 To explore the potential value of recently developed high-density linkage mapping methods in the analysis of complex disease we have regenotyped five nuclear families first studied in the 1996 UK multiple sclerosis linkage genome screen, using Applied Bios ... Full text Link to item Cite

A genomewide scan for early-onset coronary artery disease in 438 families: the GENECARD Study.

Journal Article Am J Hum Genet · September 2004 A family history of coronary artery disease (CAD), especially when the disease occurs at a young age, is a potent risk factor for CAD. DNA collection in families in which two or more siblings are affected at an early age allows identification of genetic fa ... Full text Link to item Cite

Age-related maculopathy: a genomewide scan with continued evidence of susceptibility loci within the 1q31, 10q26, and 17q25 regions.

Journal Article Am J Hum Genet · August 2004 Age-related maculopathy (ARM), or age-related macular degeneration, is one of the most common causes of visual impairment in the elderly population of developed nations. In a combined analysis of two previous genomewide scans that included 391 families, co ... Full text Link to item Cite

Analysis of European mitochondrial haplogroups with Alzheimer disease risk.

Journal Article Neurosci Lett · July 15, 2004 We examined the association of mtDNA variation with Alzheimer disease (AD) risk in Caucasians (989 cases and 328 controls) testing the effect of individual haplogroups and single nucleotide polymorphisms (SNPs). Logistic regression analyses were used to as ... Full text Link to item Cite

Ordered subset linkage analysis supports a susceptibility locus for age-related macular degeneration on chromosome 16p12.

Journal Article BMC Genet · July 6, 2004 BACKGROUND: Age-related macular degeneration (AMD) is a complex disorder that is responsible for the majority of central vision loss in older adults living in developed countries. Phenotypic and genetic heterogeneity complicate the analysis of genome-wide ... Full text Link to item Cite

Apolipoprotein E controls the risk and age at onset of Parkinson disease.

Journal Article Neurology · June 8, 2004 BACKGROUND: Similarities between Alzheimer disease (AD) and Parkinson disease (PD) suggest a possible role for apolipoprotein E (APOE) in PD. Most previous studies seeking to establish such a link used case-control datasets and results have been inconsiste ... Full text Link to item Cite

Linkage and association with the NOS2A locus on chromosome 17q11 in multiple sclerosis.

Journal Article Ann Neurol · June 2004 A large body of research supports a multifactorial cause in multiple sclerosis (MS), with an underlying genetic susceptibility likely acting in concert with undefined environmental exposures. Here, we used a highly efficient multilocus genotyping assay to ... Full text Link to item Cite

Fibroblast growth factor 20 polymorphisms and haplotypes strongly influence risk of Parkinson disease.

Journal Article Am J Hum Genet · June 2004 The pathogenic process responsible for the loss of dopaminergic neurons within the substantia nigra of patients with Parkinson disease (PD) is poorly understood. Current research supports the involvement of fibroblast growth factor (FGF20) in the survival ... Full text Link to item Cite

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.

Journal Article Nat Genet · May 2004 Featured Publication Full text Link to item Cite

No association between the APOE gene and autism.

Journal Article Am J Med Genet B Neuropsychiatr Genet · February 15, 2004 Featured Publication Autism is a neurodevelopmental disorder characterized by stereotypic and repetitive behavior and interests, together with social and communicative deficiencies. The results of several genomic screens suggest the presence of an autism susceptibility locus o ... Full text Link to item Cite

Investigation of seven proposed regions of linkage in multiple sclerosis: an American and French collaborative study.

Journal Article Neurogenetics · February 2004 Featured Publication Multiple sclerosis (MS) is a demyelinating autoimmune disease with a strong yet complex genetic component. To date only the HLA-DR locus, and specifically the HLA-DR15 allele, has been identified and confirmed as influencing the risk of developing MS. Geno ... Full text Link to item Cite

No association between the APOE gene and autism.

Journal Article American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · February 2004 Autism is a neurodevelopmental disorder characterized by stereotypic and repetitive behavior and interests, together with social and communicative deficiencies. The results of several genomic screens suggest the presence of an autism susceptibility locus o ... Cite

Linkage analysis for age-related macular degeneration supports a gene on chromosome 10q26.

Journal Article Mol Vis · January 26, 2004 Featured Publication PURPOSE: Age-related macular degeneration (AMD) is a retinal degenerative disease that is the leading cause of blindness worldwide in individuals over the age of 60. Although the etiology of AMD remains largely unknown, numerous studies have suggested both ... Link to item Cite

Mapping multiple sclerosis susceptibility to the HLA-DR locus in African Americans.

Journal Article Am J Hum Genet · January 2004 Featured Publication An underlying complex genetic susceptibility exists in multiple sclerosis (MS), and an association with the HLA-DRB1*1501-DQB1*0602 haplotype has been repeatedly demonstrated in high-risk (northern European) populations. It is unknown whether the effect is ... Full text Link to item Cite

Glutathione S-transferase omega-1 modifies age-at-onset of Alzheimer disease and Parkinson disease.

Journal Article Hum Mol Genet · December 15, 2003 Featured Publication We previously reported genetic linkage of loci controlling age-at-onset in Alzheimer disease (AD) and Parkinson's disease (PD) to a 15 cM region on chromosome 10q. Given the large number of genes in this initial starting region, we applied the process of ' ... Full text Link to item Cite

Genotype-based association test for general pedigrees: the genotype-PDT.

Journal Article Genet Epidemiol · November 2003 Featured Publication Many family-based tests of linkage disequilibrium (LD) are based on counts of alleles rather than genotypes. However, allele-based tests may not detect interactions among alleles at a single locus that are apparent when examining associations with genotype ... Full text Link to item Cite

Ordered-subsets linkage analysis detects novel Alzheimer disease loci on chromosomes 2q34 and 15q22.

Journal Article Am J Hum Genet · November 2003 Featured Publication Alzheimer disease (AD) is a complex disorder characterized by a wide range, within and between families, of ages at onset of symptoms. Consideration of age at onset as a covariate in genetic-linkage studies may reduce genetic heterogeneity and increase sta ... Full text Link to item Cite

The genetic epidemiology of multiple sclerosis.

Journal Article J Neuroimmunol · October 2003 Featured Publication Multiple sclerosis (MS) is a debilitating immunological and neurodegenerative disorder. Epidemiological studies have provided overwhelming evidence of complex genetic susceptibility to MS. However, with the exception of the human leukocyte antigen (HLA) lo ... Full text Link to item Cite

The Q7R Saitohin gene polymorphism is not associated with Alzheimer disease.

Journal Article Neurosci Lett · August 28, 2003 Featured Publication Previous studies have reported conflicting results regarding the association of the Q7R polymorphism in the Saitohin gene with late-onset Alzheimer disease (AD). Given that AD is a tauopathy but no mutations or polymorphisms in Tau have been consistently a ... Full text Link to item Cite

A 3.9-centimorgan-resolution human single-nucleotide polymorphism linkage map and screening set.

Journal Article Am J Hum Genet · August 2003 Featured Publication Recent advances in technologies for high-throughout single-nucleotide polymorphism (SNP)-based genotyping have improved efficiency and cost so that it is now becoming reasonable to consider the use of SNPs for genomewide linkage analysis. However, a suitab ... Full text Link to item Cite

Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis.

Journal Article Am J Hum Genet · August 2003 Featured Publication Amyotrophic lateral sclerosis (ALS) is a rapidly progressive, adult-onset motor neuron disease that arises as a dominantly inherited trait in approximately 10% of ALS cases. Mutations in one gene, cytosolic Cu/Zn superoxide dismutase (SOD1), account for ap ... Full text Link to item Cite

Lack of association of mutations in optineurin with disease in patients with adult-onset primary open-angle glaucoma.

Journal Article Arch Ophthalmol · August 2003 Featured Publication OBJECTIVE: To determine whether mutations in the optineurin gene contribute to susceptibility to adult-onset primary open-angle glaucoma. METHODS: The optineurin gene was screened in 86 probands with adult-onset primary open-angle glaucoma and in 80 age-ma ... Full text Link to item Cite

Association study of Parkin gene polymorphisms with idiopathic Parkinson disease.

Journal Article Arch Neurol · July 2003 Featured Publication BACKGROUND: Previously, we detected linkage of idiopathic Parkinson disease (PD) to the region on chromosome 6 that contains the Parkin gene (D6S305; logarithm of odds score, 5.47) in families with at least one individual with age at onset younger than 40 ... Full text Link to item Cite

Detailed analysis of allelic variation in the ABCA4 gene in age-related maculopathy.

Journal Article Invest Ophthalmol Vis Sci · July 2003 Featured Publication PURPOSE: Age-related maculopathy (ARM) is one of the most common causes of blindness in older adults worldwide. Sequence variants in a gene coding for a retina-specific ATP-binding cassette (ABCA4) transporter protein, which is responsible for a phenotypic ... Full text Link to item Cite

Osteopontin polymorphisms and disease course in multiple sclerosis.

Journal Article Genes Immun · June 2003 Featured Publication Osteopontin (OPN), also known as early T-cell activating gene (Eta-1), has been recently shown to be a critical factor in the progression of experimental autoimmune encephalomyelitis, and perhaps multiple sclerosis (MS). Here we investigated whether the 32 ... Full text Link to item Cite

Lewy body pathology is a frequent co-pathology in familial Alzheimer's disease.

Journal Article Acta Neuropathol · May 2003 Featured Publication Our institution is currently engaged in ongoing genetic studies of familial Alzheimer's disease (AD), which include clinical ascertainment and brain autopsy of both affected and non-affected family members. Here we describe the analysis of 22 AD families, ... Full text Link to item Cite

Parkin mutations and susceptibility alleles in late-onset Parkinson's disease.

Journal Article Ann Neurol · May 2003 Featured Publication Parkin, an E2-dependent ubiquitin protein ligase, carries pathogenic mutations in patients with autosomal recessive juvenile parkinsonism, but its role in the late-onset form of Parkinson's disease (PD) is not firmly established. Previously, we detected li ... Full text Link to item Cite

Genetic polymorphisms of the N-acetyltransferase genes and risk of Parkinson's disease.

Journal Article Neurology · April 8, 2003 Featured Publication Recently, the authors demonstrated linkage in idiopathic PD to a region on chromosome 8p that contains the N-acetyltransferase genes, NAT1 and NAT2. The authors examined NAT1 and NAT2 for association with PD using family-based association methods and singl ... Full text Link to item Cite

Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease.

Journal Article Am J Hum Genet · April 2003 Featured Publication Mitochondrial (mt) impairment, particularly within complex I of the electron transport system, has been implicated in the pathogenesis of Parkinson disease (PD). More than half of mitochondrially encoded polypeptides form part of the reduced nicotinamide a ... Full text Link to item Cite

Design of the Genetics of Early Onset Cardiovascular Disease (GENECARD) study.

Journal Article Am Heart J · April 2003 Featured Publication BACKGROUND: Coronary artery disease (CAD) is the leading cause of death and a leading cause of disability in the developed world. Early onset (premature) coronary artery disease (EOCAD) is known to have a particularly strong genetic component. However, the ... Full text Link to item Cite

HLA-DR2 dose effect on susceptibility to multiple sclerosis and influence on disease course.

Journal Article Am J Hum Genet · March 2003 Featured Publication Models of disease susceptibility in multiple sclerosis (MS) often assume a dominant action for the HLA-DRB1*1501 allele and its associated haplotype (DRB1*1501-DQB1*0602 or DR2). A robust and phenotypically well-characterized MS data set was used to explor ... Full text Link to item Cite

Identification of MeCP2 mutations in a series of females with autistic disorder.

Journal Article Pediatr Neurol · March 2003 Featured Publication Rett disorder and autistic disorder are both pervasive developmental disorders. Recent studies indicate that at least 80% of Rett Disorder cases are caused by mutations in the methyl-CpG-binding protein 2 (MeCP2) gene. Since there is some phenotypic overla ... Full text Link to item Cite

Fine mapping of autistic disorder to chromosome 15q11-q13 by use of phenotypic subtypes.

Journal Article Am J Hum Genet · March 2003 Featured Publication Autistic disorder (AutD) is a complex genetic disease. Available evidence suggests that several genes contribute to the underlying genetic risk for the development of AutD. However, both etiologic heterogeneity and genetic heterogeneity confound the discov ... Full text Link to item Cite

Behavioral comparisons in autistic individuals from multiplex and singleton families.

Journal Article J Autism Dev Disord · February 2003 Featured Publication Autistic disorder (AD) is a complex neurodevelopmental disorder. The role of genetics in AD etiology is well established, and it is postulated that anywhere from 2 to 10 genes could be involved. As part of a larger study to identify these genetic effects w ... Full text Link to item Cite

Factor analysis of restricted and repetitive behaviors in autism using the Autism Diagnostic Interview-R.

Journal Article Child Psychiatry Hum Dev · 2003 Featured Publication The current study examined the factor structure of restricted and repetitive behaviors (RRB) in children with autism. Factor extraction procedures of 12 items from the Autism Diagnostic Interview-Revised (ADI-R) were applied in N = 207 individuals with aut ... Full text Link to item Cite

A pooled case-control study of the apolipoprotein E (APOE) gene in age-related maculopathy.

Journal Article Ophthalmic Genet · December 2002 Featured Publication Age-related maculopathy (ARM) is a multifactorial disorder known to have a substantial genetic component. The epsilon4 allele of the apolipoprotein E gene (APOE-4) has previously been reported to have a protective effect on ARM risk, while the APOE-2 allel ... Full text Link to item Cite

myotilin Mutation found in second pedigree with LGMD1A.

Journal Article Am J Hum Genet · December 2002 Featured Publication Limb-girdle muscular dystrophy 1A (LGMD1A [MIM 159000]) is an autosomal dominant form of muscular dystrophy characterized by adult onset of proximal weakness progressing to distal muscle weakness. We have reported elsewhere a mutation in the myotilin gene ... Full text Link to item Cite

A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10).

Journal Article Am J Hum Genet · November 2002 Featured Publication We have identified a missense mutation in the motor domain of the neuronal kinesin heavy chain gene KIF5A, in a family with hereditary spastic paraplegia. The mutation occurs in the family in which the SPG10 locus was originally identified, at an invariant ... Full text Link to item Cite

Linkage of Parkinsonism and Alzheimer's disease with Lewy body pathology to chromosome 12.

Journal Article Ann Neurol · October 2002 Featured Publication Full text Link to item Cite

Reduction in the minimum candidate interval in the dominant-intermediate form of Charcot-Marie-Tooth neuropathy to D19S586 to D19S432.

Journal Article Neurogenetics · October 2002 Featured Publication As part of an on-going genomic screen of unlinked Charcot-Marie-Tooth disease type 2 (CMT2) families, we identified 11 regions in the genome with lod scores > or = 1.0. One of these regions was near the recently identified CMTDI1 locus on 19q. We show evid ... Full text Link to item Cite

Prevalence of myocilin mutations in adults with primary open-angle glaucoma in Ghana, West Africa.

Journal Article J Glaucoma · October 2002 Featured Publication PURPOSE: Investigators have noted that primary open-angle glaucoma (POAG) in West Africa has an earlier age of onset and appears to be more clinically severe than in the United States and Europe. Primary open-angle glaucoma patients with mutations in myoci ... Full text Link to item Cite

Multiple susceptibility loci for multiple sclerosis.

Journal Article Hum Mol Genet · September 15, 2002 Featured Publication Multiple sclerosis (MS) is a common and frequently disabling autoimmune disorder mediated by autoaggressive T cells and autoantibodies that target central nervous system myelin. While numerous studies have demonstrated a strong genetic component to MS, it ... Full text Link to item Cite

Clinical phenotype and linkage analysis of the congenital fibrosis of the extraocular muscles in an Indian family.

Journal Article Mol Vis · August 14, 2002 Featured Publication PURPOSE: To describe the clinical phenotype and linkage analysis of the congenital fibrosis of the extraocular muscles (CFEOM) in an Indian family. METHODS: Individuals were examined and their peripheral blood samples were withdrawn for genetic analysis. T ... Link to item Cite

Linkage of a gene causing familial membranoproliferative glomerulonephritis type III to chromosome 1.

Journal Article J Am Soc Nephrol · August 2002 Featured Publication Membranoproliferative glomerulonephritis (MPGN) type III is a chronic progressive renal disease of unknown cause. The diagnosis is based on renal pathologic features (specifically immunofluorescence staining patterns and ultrastructural appearance). Mesang ... Full text Link to item Cite

Phenotypic homogeneity provides increased support for linkage on chromosome 2 in autistic disorder.

Journal Article Am J Hum Genet · April 2002 Featured Publication Autistic disorder (AutD) is a neurodevelopmental disorder characterized by significant disturbances in social, communicative, and behavioral functioning. A two-stage genomic screen analysis of 99 families with AutD revealed suggestive evidence for linkage ... Full text Link to item Cite

Age at onset in two common neurodegenerative diseases is genetically controlled.

Journal Article Am J Hum Genet · April 2002 Featured Publication To identify genes influencing age at onset (AAO) in two common neurodegenerative diseases, a genomic screen was performed for AAO in families with Alzheimer disease (AD; n=449) and Parkinson disease (PD; n=174). Heritabilities between 40%--60% were found i ... Full text Link to item Cite

Association of polymorphisms in the apolipoprotein E region with susceptibility to and progression of multiple sclerosis.

Journal Article Am J Hum Genet · March 2002 Featured Publication Multiple sclerosis (MS) is a chronic inflammatory disorder of the central nervous system, with a complex etiology that includes a strong genetic component. The contribution of the major histocompatibility complex (MHC) has been established in numerous gene ... Full text Link to item Cite

Genomic screen and follow-up analysis for autistic disorder.

Journal Article Am J Med Genet · January 8, 2002 Featured Publication Autistic disorder (AutD) is a neurodevelopmental disorder characterized by significant impairment in social, communicative, and behavioral functioning. A genetic basis for AutD is well established with as many as 10 genes postulated to contribute to its un ... Full text Link to item Cite

No association between the WNT2 gene and autistic disorder.

Journal Article Am J Med Genet · January 8, 2002 Featured Publication Autistic disorder is a pervasive neurodevelopmental disorder characterized by deficits in language and social communication, as well as stereotyped patterns of behavior. Peak LOD scores from several genomic screening efforts indicate the presence of an aut ... Full text Link to item Cite

Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21.

Journal Article Nat Genet · January 2002 Featured Publication We previously localized and fine-mapped Charcot Marie Tooth 4A (CMT4A), the autosomal recessive, demyelinating peripheral neuropathy, to chromosome 8. Through additional positional cloning, we have identified a good candidate gene, encoding ganglioside-ind ... Full text Link to item Cite

Genetic basis for clinical expression in multiple sclerosis.

Journal Article Brain · January 2002 Featured Publication Multiple sclerosis is a clinically heterogeneous demyelinating disease and an important cause of acquired neurological disability. An underlying complex genetic susceptibility plays an important role in multiple sclerosis aetiology; however, the role of ge ... Full text Link to item Cite

Migraine with aura susceptibility locus on chromosome 19p13 is distinct from the familial hemiplegic migraine locus.

Journal Article Genomics · December 2001 Featured Publication Migraine is a common neurological disease with a major genetic component. Recently, it has been proposed that a single locus on chromosome 19p13 contributes to the genetic susceptibility of both rare familial hemiplegic migraine (FHM) and more common types ... Full text Link to item Cite

A second leaky splice-site mutation in the spastin gene.

Journal Article Am J Hum Genet · December 2001 Featured Publication Full text Link to item Cite

Complete genomic screen in Parkinson disease: evidence for multiple genes.

Journal Article JAMA · November 14, 2001 Featured Publication CONTEXT: The relative contribution of genes vs environment in idiopathic Parkinson disease (PD) is controversial. Although genetic studies have identified 2 genes in which mutations cause rare single-gene variants of PD and observational studies have sugge ... Full text Link to item Cite

Association of single-nucleotide polymorphisms of the tau gene with late-onset Parkinson disease.

Journal Article JAMA · November 14, 2001 Featured Publication CONTEXT: The human tau gene, which promotes assembly of neuronal microtubules, has been associated with several rare neurologic diseases that clinically include parkinsonian features. We recently observed linkage in idiopathic Parkinson disease (PD) to a r ... Full text Link to item Cite

The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis.

Journal Article Nat Genet · October 2001 Featured Publication Amyotrophic lateral sclerosis (ALS) and primary lateral sclerosis (PLS) are neurodegenerative conditions that affect large motor neurons of the central nervous system. We have identified a familial juvenile PLS (JPLS) locus overlapping the previously ident ... Full text Link to item Cite

Linkage and association analysis of chromosome 19q13 in multiple sclerosis.

Journal Article Neurogenetics · October 2001 Featured Publication Multiple sclerosis (MS) is an autoimmune neurological disorder with a complex etiology. Sibling risk, twin, and adoption studies have demonstrated that genes play a vital role in susceptibility to MS. Numerous association and linkage studies have implicate ... Full text Link to item Cite

Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families.

Journal Article Genomics · September 2001 Featured Publication Autistic disorder is a neurodevelopmental disorder with a complex genetic etiology. Observations of maternal duplications affecting chromosome 15q11-q13 in patients with autism and evidence for linkage and linkage disequilibrium to markers in this region i ... Full text Link to item Cite

PTPRC (CD45) is not associated with the development of multiple sclerosis in U.S. patients.

Journal Article Nat Genet · September 2001 Featured Publication A C-->G nucleotide transition in exon 4 of PTPRC (encoding protein-tyrosine phosphatase receptor-type C, also known as CD45) was recently reported to be genetically associated with the development of multiple sclerosis (MS). We performed an extensive evalu ... Full text Link to item Cite

A conserved sorting-associated protein is mutant in chorea-acanthocytosis.

Journal Article Nat Genet · June 2001 Featured Publication Chorea-acanthocytosis (CHAC, MIM 200150) is an autosomal recessive neurodegenerative disorder characterized by the gradual onset of hyperkinetic movements and abnormal erythrocyte morphology (acanthocytosis). Neurological findings closely resemble those ob ... Full text Link to item Cite

Sequence variation in the transforming growth factor-beta1 (TGFB1) gene and multiple sclerosis susceptibility.

Journal Article J Neuroimmunol · May 1, 2001 Featured Publication Genome screenings in multiple sclerosis (MS) have identified multiple susceptibility regions supporting a polygenic model for this disease. Evidence for linkage was consistently observed at ch.19q13 suggesting the presence of an MS gene(s) in this region. ... Full text Link to item Cite

Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia.

Journal Article Am J Hum Genet · May 2001 Featured Publication Pure hereditary spastic paraplegia (SPG) type 4 is the most common form of autosomal dominant hereditary SPG, a neurodegenerative disease characterized primarily by hyperreflexia and progressive spasticity of the lower limbs. It is caused by mutations in t ... Full text Link to item Cite

De novo partial duplication of chromosome 7p in a male with autistic disorder.

Journal Article Am J Med Genet · April 8, 2001 Featured Publication We describe a de novo partial duplication of 7p in a 25-year-old male with autistic disorder (AD). High-resolution chromosome analysis revealed an extra segment added to the proximal short arm of chromosome 7. The G-band pattern was consistent with an inve ... Full text Link to item Cite

Fine mapping and genetic heterogeneity in the pure form of autosomal dominant familial spastic paraplegia.

Journal Article Neurogenetics · March 2001 Featured Publication We evaluated seven families segregating pure, autosomal dominant familial spastic paraplegia (SPG) for linkage to four recently identified SPG loci on chromosomes 2q (1), 8q (2), 12q (3), and 19q (4). These families were previously shown to be unlinked to ... Full text Link to item Cite

A duplication in chromosome 4q35 is associated with hereditary benign intraepithelial dyskeratosis.

Journal Article Am J Hum Genet · February 2001 Featured Publication Hereditary benign intraepithelial dyskeratosis (HBID) is an autosomal dominant disorder characterized by elevated epithelial plaques on the ocular and oral mucous membranes. It has been reported primarily, but not exclusively, in individuals of American In ... Full text Link to item Cite

Association analysis of chromosome 15 gabaa receptor subunit genes in autistic disorder.

Journal Article J Neurogenet · 2001 Featured Publication Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the brain, acting via the GABAA receptors. The GABAA receptors are comprised of several different homologous subunits, forming a group of receptors that are both structurally and fu ... Full text Link to item Cite

Life after the screen: making sense of many P-values.

Journal Article Genet Epidemiol · 2001 Featured Publication A multiple analytic approach may be useful for analyzing complex traits since different methods extract both similar and distinct, but complementary pieces of information from genome screen data on extended pedigrees. We examined the usefulness of combinin ... Full text Link to item Cite

Association of the apolipoprotein E gene with age-related macular degeneration: possible effect modification by family history, age, and gender.

Journal Article Mol Vis · December 31, 2000 Featured Publication PURPOSE: Age-related macular degeneration (AMD) is a complex disorder affecting older adults in which genetic factors are likely to play a role. It has been previously suggested that the e4 allele of the apolipoprotein E (APOE) gene may have a protective e ... Link to item Cite

Identification of novel genes in late-onset Alzheimer's disease.

Journal Article Exp Gerontol · December 2000 Featured Publication Four genes affecting Alzheimer's Disease (AD)(AP, PS1, PS2, and APOE) have been identified and a fifth potential gene localized to chromosome 12. Collectively, these genes explain at most half of the genetic effect in AD. Understanding the genetics of AD i ... Full text Link to item Cite

Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22.

Journal Article JAMA · October 4, 2000 Featured Publication CONTEXT: Occasionally, 2 or more major neurodegenerative diseases arise simultaneously. An understanding of the genetic bases of combined disorders, such as amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD), will likely provide insight ... Full text Link to item Cite

Genetic analysis for common complex disease.

Journal Article Am Heart J · October 2000 Featured Publication Full text Link to item Cite

Myotilin is mutated in limb girdle muscular dystrophy 1A.

Journal Article Hum Mol Genet · September 1, 2000 Featured Publication We have identified a mutation in the myotilin gene in a large North American family of German descent expressing an autosomal dominant form of limb girdle muscular dystrophy (LGMD1A). We have previously mapped this gene to 5q31. Symptoms of this adult onse ... Full text Link to item Cite

Patterns of brain activation in people at risk for Alzheimer's disease.

Journal Article N Engl J Med · August 17, 2000 Featured Publication BACKGROUND: The epsilon4 allele of the apolipoprotein E gene (APOE) is the chief known genetic risk factor for Alzheimer's disease, the most common cause of dementia late in life. To determine the relation between brain responses to tasks requiring memory ... Full text Link to item Cite

Lewy body and Alzheimer pathology in a family with the amyloid-beta precursor protein APP717 gene mutation.

Journal Article Acta Neuropathol · August 2000 Featured Publication Mutations in the amyloid precursor protein (APP) gene cause one form of early onset familial Alzheimer's disease (AD). One such family has been studied genetically and neuropathologically and represents the basis of the present report. Four siblings with t ... Full text Link to item Cite

SNPing away at complex diseases: analysis of single-nucleotide polymorphisms around APOE in Alzheimer disease.

Journal Article Am J Hum Genet · August 2000 Featured Publication There has been great interest in the prospects of using single-nucleotide polymorphisms (SNPs) in the search for complex disease genes, and several initiatives devoted to the identification and mapping of SNPs throughout the human genome are currently unde ... Full text Link to item Cite

Linkage of the CCR5 Delta 32 mutation with a functional polymorphism of CD45RA.

Journal Article J Immunol · July 1, 2000 Featured Publication A 32-bp deletion in CCR5 (CCR5 Delta 32) confers to PBMC resistance to HIV-1 isolates that use CCR5 as a coreceptor. To study this mutation in T cell development, we have screened 571 human thymus tissues for the mutation. We identified 72 thymuses (12.6%) ... Full text Link to item Cite

Heterogeneity in Paget disease of the bone.

Journal Article Am J Med Genet · June 19, 2000 Featured Publication Paget disease of the bone is a common skeletal disorder. Recently, a gene for Paget disease was localized to 18q with subsequent evidence for linkage heterogeneity. We report the identification and clinical characterization of a large pedigree of Paget dis ... Full text Link to item Cite

Female with autistic disorder and monosomy X (Turner syndrome): parent-of-origin effect of the X chromosome.

Journal Article Am J Med Genet · June 12, 2000 Featured Publication We have ascertained and examined a patient with autistic disorder (AD) and monosomy X (Turner syndrome). The patient met Diagnostic and Statistical Manual of Mental Disorders (DSM-IV)/International Classification of Diseases (ICD-10) criteria for AD verifi ... Full text Link to item Cite

Three probands with autistic disorder and isodicentric chromosome 15.

Journal Article Am J Med Genet · June 12, 2000 Featured Publication We have identified three unrelated probands with autistic disorder (AD) and isodicentric chromosomes that encompass the proximal region of 15q11.2. All three probands met the Diagnostic and Statistical Manual of Mental Disorders, fourth edition [DSM-IV; Am ... Full text Link to item Cite

Cerebral metabolic and cognitive decline in persons at genetic risk for Alzheimer's disease.

Journal Article Proc Natl Acad Sci U S A · May 23, 2000 Featured Publication The major known genetic risk for Alzheimer's disease (AD), apolipoprotein E-4 (APOE-4), is associated with lowered parietal, temporal, and posterior cingulate cerebral glucose metabolism in patients with a clinical diagnosis of AD. To determine cognitive a ... Full text Link to item Cite

Genome-wide scan for adult onset primary open angle glaucoma.

Journal Article Hum Mol Genet · April 12, 2000 Featured Publication Adult onset primary open angle glaucoma is a leading cause of blindness throughout the world. The disease results in an apoptotic death of retinal ganglion cells that is usually associated with an elevation of intraocular pressure. Familial aggregation of ... Full text Link to item Cite

CC-chemokine receptor 5 polymorphism and age of onset in familial multiple sclerosis. Multiple Sclerosis Genetics Group.

Journal Article Immunogenetics · April 2000 Featured Publication Multiple sclerosis (MS) is a common disease of the central nervous system characterized by myelin loss and progressive neurological dysfunction. An underlying genetic susceptibility plays a clear role in the etiology of MS, likely acting in concert with an ... Full text Link to item Cite

Genetic studies in autistic disorder and chromosome 15.

Journal Article Neurogenetics · March 2000 Featured Publication Autistic disorder (AD) is a developmental disorder affecting social interactions, communication, and behavior. AD is a disease of complex genetic architecture. It is postulated that several genes contribute to the underlying etiology of AD. Chromosome 15 i ... Full text Link to item Cite

Fine mapping of the chromosome 12 late-onset Alzheimer disease locus: potential genetic and phenotypic heterogeneity.

Journal Article Am J Hum Genet · March 2000 Featured Publication Apolipoprotein E (APOE) is the only confirmed susceptibility gene for late-onset Alzheimer disease (AD). In a recent genomic screen of 54 families with late-onset AD, we detected significant evidence for a second late-onset AD locus located on chromosome 1 ... Full text Link to item Cite

Autistic symptoms among children and young adults with isodicentric chromosome 15.

Journal Article Am J Med Genet · February 7, 2000 Featured Publication Full text Link to item Cite

Analysis of linkage disequilibrium in gamma-aminobutyric acid receptor subunit genes in autistic disorder.

Journal Article Am J Med Genet · February 7, 2000 Featured Publication Autistic disorder (AD) is a neurodevelopmental disorder characterized by abnormalities in behavior, communication, and social interactions and functioning. Recently, Cook et al. reported significant linkage disequilibrium with an AD susceptibility locus an ... Full text Link to item Cite

Physical and cDNA mapping in the DBH region of human chromosome 9q34.

Journal Article Hum Hered · 2000 Featured Publication Chromosome 9q34 has been extensively studied and mapped due to the presence of known disease genes, principally tuberous sclerosis 1 (TSC1), in this region. During the course of our mapping of this region we constructed a 555-kb contig beginning approximat ... Full text Link to item Cite

Genetic studies in neural tube defects. NTD Collaborative Group.

Journal Article Pediatr Neurosurg · January 2000 Featured Publication Neural tube defects (NTD) are one of the most common birth defects and are caused by both environmental and genetic factors. The approach to identifying the genes predisposing to NTD, through linkage analysis and candidate gene analysis, is reviewed along ... Full text Link to item Cite

Analysis of association at single nucleotide polymorphisms in the APOE region.

Journal Article Genomics · January 1, 2000 Featured Publication The discussion of the prospects of using a dense map of single nucleotide polymorphisms (SNPs) to identify disease genes with association analysis has been extensive. However, there is little empiric evidence to support this strategy. To begin to examine t ... Full text Link to item Cite

North Carolina macular dystrophy (MCDR1) locus: a fine resolution genetic map and haplotype analysis.

Journal Article Mol Vis · December 29, 1999 Featured Publication PURPOSE: We previously reported linkage of North Carolina macular dystrophy in a single isolated family to a broad region on chromosome 6q16. In order to refine the localization of the MCDR1 gene (North Carolina macular dystrophy), additional families with ... Link to item Cite

Autistic disorder and chromosome 15q11-q13: construction and analysis of a BAC/PAC contig.

Journal Article Genomics · December 15, 1999 Featured Publication Autistic disorder (AD) is a neurodevelopmental disorder that affects approximately 2-10/10,000 individuals. Chromosome 15q11-q13 has been implicated in the genetic etiology of AD based on (1) cytogenetic abnormalities; (2) increased recombination frequency ... Full text Link to item Cite

Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11p15.

Journal Article Genomics · December 15, 1999 Featured Publication Autosomal recessive Charcot-Marie-Tooth disease type 4B (CMT4B) is a demyelinating hereditary motor and sensory neuropathy characterized by abnormal folding of myelin sheaths. A locus for CMT4B has previously been mapped to chromosome 11q23 in a southern I ... Full text Link to item Cite

Chromosome 17q22-q24 and multiple sclerosis genetic susceptibility. American-French Multiple Sclerosis Genetic Group.

Journal Article Genes Immun · November 1999 Featured Publication Recently, genome-wide searches for multiple sclerosis (MS) susceptibility genes have suggested that the chromosome 17q22-q24 region might contain susceptibility genes in two sets of families of different ethnic backgrounds (Finnish and British). Therefore, ... Full text Link to item Cite

Spectrum of disease in familial focal and segmental glomerulosclerosis.

Journal Article Kidney Int · November 1999 Featured Publication BACKGROUND: Focal segmental glomerulosclerosis (FSGS) is the underlying pathologic entity in 5% of adults and 20% of children with end-stage renal disease (ESRD). FSGS is generally considered to be sporadic in origin. METHODS: Recently, we identified 60 fa ... Full text Link to item Cite

Genetic studies of autistic disorder and chromosome 7.

Journal Article Genomics · November 1, 1999 Featured Publication Genome-wide scans have suggested that a locus on 7q is involved in the etiology of autistic disorder (AD). We have identified an AD family in which three sibs inherited from their mother a paracentric inversion in the chromosome 7 candidate region (inv(7)( ... Full text Link to item Cite

Linkage analysis of candidate myelin genes in familial multiple sclerosis.

Journal Article Neurogenetics · September 1999 Featured Publication Multiple sclerosis (MS) is an autoimmune demyelinating disease of the central nervous system. A complex genetic etiology is thought to underlie susceptibility to this disease. The present study was designed to analyze whether differences in genes that enco ... Full text Link to item Cite

No association between the HLA-A2 allele and Alzheimer disease.

Journal Article Neurogenetics · September 1999 Featured Publication The apolipoprotein E (APOE)-4 allele is a major risk factor for late-onset Alzheimer disease (AD), but it does not account for all the genetic variation in late-onset AD; thus, other genetic markers must be examined. Previous studies suggest an HLA-A2 alle ... Full text Link to item Cite

The alpha-synuclein gene is not a major risk factor in familial Parkinson disease.

Journal Article Neurogenetics · September 1999 Featured Publication Full text Link to item Cite

Analysis of the Stargardt disease gene (ABCR) in age-related macular degeneration.

Journal Article Ophthalmology · August 1999 Featured Publication PURPOSE: Age-related macular degeneration (AMD) is a complex genetic disorder and the leading cause of severe vision loss in the elderly. The Stargardt disease gene (ABCR) has been proposed as a major genetic risk factor in AMD. The purpose of this study w ... Full text Link to item Cite

Neuropathological features of frontotemporal dementia and parkinsonism linked to chromosome 17q21-22 (FTDP-17): Duke Family 1684.

Journal Article J Neuropathol Exp Neurol · August 1999 Featured Publication Frontotemporal dementia with parkinsonism (FTDP-17) is an autosomal dominant disorder that presents clinically with dementia, extrapyramidal signs, and behavioral disturbances in mid-life and progresses to death within 5 to 10 years. Pathologically, the di ... Full text Link to item Cite

Analysis of association between Alzheimer disease and the K variant of butyrylcholinesterase (BCHE-K).

Journal Article Neurosci Lett · July 9, 1999 Featured Publication Butyrylcholinesterase (BCHE) is an enzyme expressed in most human tissues. Recently, an increased odds of carrying the K variant of BCHE (BCHE-K) was reported among Alzheimer disease (AD) cases as compared with controls. We tested our data set of 245 spora ... Full text Link to item Cite

Memory self-appraisal in middle-aged and older adults with the apolipoprotein E-4 allele.

Journal Article Am J Psychiatry · July 1999 Featured Publication OBJECTIVE: Because subjective memory complaints may indicate subtle functional brain abnormalities, the authors studied the influence of the major genetic risk for Alzheimer's disease, the apolipoprotein E-4 (APOE-4) allele, on self-reports of memory perfo ... Full text Link to item Cite

Linkage of a gene causing familial focal segmental glomerulosclerosis to chromosome 11 and further evidence of genetic heterogeneity.

Journal Article Genomics · June 1, 1999 Featured Publication Focal segmental glomerulosclerosis (FSGS) is a pathological entity characterized by proteinuria, nephrotic syndrome, and the progressive loss of renal function. It is a common cause of end-stage renal disease (ESRD). Recently, familial forms of FSGS have b ... Full text Link to item Cite

An alpha-2-macroglobulin insertion-deletion polymorphism in Alzheimer disease.

Journal Article Nat Genet · May 1999 Featured Publication Full text Link to item Cite

Clinical and genetic heterogeneity in familial focal segmental glomerulosclerosis. International Collaborative Group for the Study of Familial Focal Segmental Glomerulosclerosis.

Journal Article Kidney Int · April 1999 Featured Publication BACKGROUND: Familial forms of focal segmental glomerulosclerosis (FFSGS) that exhibit autosomal dominant or recessive patterns of inheritance have been described. The genetic basis of these hereditary forms of FSGS is unknown. One recent study of a kindred ... Full text Link to item Cite

Further evidence linking late-onset Alzheimer disease with chromosome 12.

Journal Article JAMA · February 10, 1999 Featured Publication Full text Link to item Cite

Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7.

Journal Article Am J Hum Genet · February 1999 Featured Publication We report the identification of a new locus for autosomal dominant limb-girdle muscular dystrophy (LGMD1) on 7q. Two of five families (1047 and 1701) demonstrate evidence in favor of linkage to this region. The maximum two-point LOD score for family 1047 w ... Full text Link to item Cite

Confirmation of linkage of hereditary partial lipodystrophy to chromosome 1q21-22.

Journal Article Am J Med Genet · January 15, 1999 Featured Publication Familial lipodystrophy is a genetically heterogeneous set of disorders characterized by a total or partial absence of subcutaneous fat, diabetes mellitus or impaired glucose tolerance, hyperlipidemia, and hypermetabolism [Senior and Gellis, 1964]. One subt ... Link to item Cite

Genetics of multiple sclerosis.

Journal Article Curr Dir Autoimmun · 1999 Featured Publication Full text Link to item Cite

Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing.

Journal Article Genet Med · 1999 Featured Publication PURPOSE: To analyze the spectrum and frequency of NF1 mutations in exon 10b. METHODS: Mutation and sequence analysis was performed at the DNA and cDNA level. RESULTS: We identified nine exon 10b mutations in 232 unrelated patients. Some mutations were recu ... Full text Link to item Cite

Complete genomic screen for disease susceptibility loci in nuclear families.

Journal Article Genet Epidemiol · 1999 Featured Publication We performed genome-wide model dependent and independent analyses on a simulated data set of 400 families segregating for a rare disorder. Regions on chromosomes 1, 3, and 5 were consistently indicated across the various analyses performed. Follow-up analy ... Full text Link to item Cite

Absence of mutation in the beta- and gamma-synuclein genes in familial autosomal dominant Parkinson's disease.

Journal Article DNA Res · December 31, 1998 Featured Publication Full text Link to item Cite

Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers.

Journal Article Neurogenetics · December 1998 Featured Publication Autosomal recessive familial amyotrophic lateral sclerosis (RFALS) is a rare form of ALS that usually presents at an early age with slow progression of symptoms. RFALS is clinically and genetically heterogeneous and the locus of RFALS type 3 was mapped to ... Full text Link to item Cite

Use of a CEPH meiotic breakpoint panel to refine the locus of limb-girdle muscular dystrophy type 1A (LGMD1A) to a 2-Mb interval on 5q31.

Journal Article Genomics · December 1, 1998 Featured Publication Limb-girdle muscular dystrophy type 1A (LGMD1A) is an autosomal dominant disease characterized by progressive weakness of the hip and shoulder girdle. The gene for LGMD1A had been localized to a 7-cM interval at 5q31 in a single large family (Family 39). T ... Full text Link to item Cite

Fine localization of the CMT4A locus using a PAC contig and haplotype analysis.

Journal Article Neurogenetics · December 1998 Featured Publication Charcot-Marie-Tooth disease type 4A (CMT4A) is a severe, autosomal recessive peripheral neuropathy linked to chromosome 8q13-q21. We have previously constructed a YAC contig across the CMT4A region and narrowed the disease-flanking interval to approximatel ... Full text Link to item Cite

Prevalence of mutations in TIGR/Myocilin in patients with adult and juvenile primary open-angle glaucoma.

Other Am J Hum Genet · November 1998 Featured Publication Full text Link to item Cite

Gln368STOP myocilin mutation in families with late-onset primary open-angle glaucoma.

Journal Article Invest Ophthalmol Vis Sci · November 1998 Featured Publication PURPOSE: To examine families ascertained for late-onset primary open-angle glaucoma (POAG) to determine mutations in the gene coding for myocilin. METHODS: The diagnosis of late-onset POAG was defined as age at diagnosis more than 35 years, intraocular pre ... Link to item Cite

Association between bleomycin hydrolase and Alzheimer's disease in caucasians.

Journal Article Ann Neurol · November 1998 Featured Publication A recent study showed modest evidence for an increased frequency of the bleomycin hydrolase (BH) V/V genotype in Alzheimer's disease (AD) patients compared with non-demented controls. To test this hypothesis, we examined this polymorphism in 621 rigorously ... Full text Link to item Cite

Haplotype analysis in Icelandic families defines a minimal interval for the macular corneal dystrophy type I gene.

Journal Article Am J Hum Genet · September 1998 Featured Publication Full text Link to item Cite

Linkage of the MHC to familial multiple sclerosis suggests genetic heterogeneity. The Multiple Sclerosis Genetics Group.

Journal Article Hum Mol Genet · August 1998 Featured Publication Multiple sclerosis (MS) is a demyelinating autoimmune disease of the central nervous system. While its etiology is not well understood, genetic factors are clearly involved. Until recently, most genetic studies in MS have been association studies using the ... Full text Link to item Cite

Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene.

Journal Article Neurogenetics · August 1998 Featured Publication Tuberous sclerosis complex (TSC) is an autosomal dominant multi-system disorder with two known disease loci on chromosomes 9q34 (TSC1) and 16p13.3 (TSC2). TSC has a prevalence of approximately 1 in 5,000-6,000, exhibits incomplete penetrance, and occurs in ... Full text Link to item Cite

No association of alpha1-antichymotrypsin flanking region polymorphism and Alzheimer disease risk in early- and late-onset Alzheimer disease patients.

Journal Article Neurosci Lett · July 3, 1998 Featured Publication The alpha1-antichymotrypsin (AACT)-155 allele was found elsewhere to have a significant effect on Alzheimer disease (AD) risk in individuals with at least one APOE-4 allele. We compared AACT genotypes of 284 cases of sporadic AD and 172 controls. The frequ ... Full text Link to item Cite

Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy.

Journal Article Hum Mol Genet · May 1998 Featured Publication The Bethlem myopathy is a rare autosomal dominant proximal myopathy characterized by early childhood onset and joint contractures. Evidence for linkage and genetic heterogeneity has been established, with the majority of families linked to 21q22.3 and one ... Full text Link to item Cite

A novel long and unstable CAG/CTG trinucleotide repeat on chromosome 17q.

Journal Article Genomics · April 15, 1998 Featured Publication Using the direct identification of repeat expansion and cloning technique, we cloned a novel long CAG/CTG trinucleotide repeat on chromosome 17. Using radiation hybrid panels, the CAG/CTG repeat was mapped to chromosome 17q. The CAG/CTG repeat is highly po ... Full text Link to item Cite

Using neural networks as an aid in the determination of disease status: comparison of clinical diagnosis to neural-network predictions in a pedigree with autosomal dominant limb-girdle muscular dystrophy.

Journal Article Am J Hum Genet · April 1998 Featured Publication Studies of the genetics of certain inherited diseases require expertise in the determination of disease status even for single-locus traits. For example, in the diagnosis of autosomal dominant limb-girdle muscular dystrophy (LGMD1A), it is not always possi ... Full text Link to item Cite

Evidence for anticipation in autosomal dominant limb-girdle muscular dystrophy.

Journal Article J Med Genet · April 1998 Featured Publication Anticipation, an increase in severity or decrease in age of onset (AO) inherent in the transmission of the disease gene from affected parent to affected child, has been increasingly described in human disease. To assess anticipation in a large kindred in w ... Full text Link to item Cite

Lack of association between apolipoprotein E genotype and sporadic amyotrophic lateral sclerosis.

Journal Article Neurogenetics · March 1998 Featured Publication Amyotrophic lateral sclerosis (ALS) is a neuro-degenerative disorder with both sporadic and familial forms. Approximately 20% of autosomal dominant ALS is caused by mutations in the Cu/Zn superoxide dismutase (SOD1) gene. The causes of the remaining forms ... Full text Link to item Cite

Coexistence of macular corneal dystrophy types I and II in a single sibship.

Journal Article Br J Ophthalmol · March 1998 Featured Publication BACKGROUND: Macular corneal dystrophy (MCD) is an inherited autosomal recessive disorder that has been subdivided into two primary immunophenotypes, MCD types I and II. The MCD type I gene has been localised previously to chromosome 16q22 and suggestive ev ... Full text Link to item Cite

No genetic association between the LRP receptor and sporadic or late-onset familial Alzheimer disease.

Journal Article Neurogenetics · March 1998 Featured Publication The low-density lipoprotein receptor-related protein gene (LRP1) is often mentioned as a candidate gene for Alzheimer disease (AD) because of its role as a receptor for apolipoprotein E (apoE), a major genetic risk factor for late-onset familial and sporad ... Full text Link to item Cite

Quantitative DNA pooling to increase the efficiency of linkage analysis in autosomal dominant disease.

Journal Article Hum Genet · February 1998 Featured Publication DNA pooling is an efficient method to rapidly perform genome-wide linkage scans in autosomal recessive diseases in inbred populations where affected individuals are likely to be homozygous for alleles near the disease gene locus. We wanted to examine wheth ... Full text Link to item Cite

Clinical heterogeneity of familial spastic paraplegia linked to chromosome 2p21.

Journal Article Hum Hered · 1998 Featured Publication The clinical features of four families with autosomal dominant spastic paraparesis (FSP) are described, along with the results of linkage analysis to markers from the regions of chromosomes 2, 14, and 15 which are known to contain spastic paraplegia genes. ... Full text Link to item Cite

Exclusion of identified LGMD1 loci from four dominant limb-girdle muscular dystrophy families.

Journal Article Hum Hered · 1998 Featured Publication The limb-girdle muscular dystrophies are a clinically and genetically heterogeneous group of disorders. Recent linkage analyses and positional cloning studies have identified numerous loci responsible for the recessive and dominant forms, underscoring the ... Full text Link to item Cite

Evidence for genetic heterogeneity supports clinical differences in congenital myasthenic syndromes.

Journal Article Hum Hered · 1998 Featured Publication Congenital myasthenic syndromes (CMS) define a diverse group of disorders, all of which compromise neuromuscular transmission. Symptoms can be present at birth or appear during childhood, and can range in severity. Both autosomal dominant and recessive for ... Full text Link to item Cite

Adult-onset primary open angle glaucoma does not localize to chromosome 2cen-q13 in North American families.

Journal Article Hum Hered · 1998 Featured Publication Glaucoma is one of the leading causes of irreversible blindness in the world and is characterized by elevated intraocular pressure, optic nerve atrophy, and progressive visual field loss. Primary open angle glaucoma (POAG) is the most common subtype of gla ... Full text Link to item Cite

Complete genomic screen in late-onset familial Alzheimer's disease.

Journal Article Neurobiol Aging · 1998 Featured Publication Alzheimer's disease (AD) is a complex genetic disorder. Linkage analysis has helped unravel a portion of the genetic component of AD by identifying four loci that play a role in the genetics of AD (amyloid precursor protein, presenilin 1, presenilin 2, and ... Full text Link to item Cite

Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease. A meta-analysis. APOE and Alzheimer Disease Meta Analysis Consortium.

Journal Article JAMA · October 22, 1997 Featured Publication OBJECTIVE: To examine more closely the association between apolipoprotein E (APOE) genotype and Alzheimer disease (AD) by age and sex in populations of various ethnic and racial denominations. DATA SOURCES: Forty research teams contributed data on APOE gen ... Link to item Cite

Complete genomic screen in late-onset familial Alzheimer disease. Evidence for a new locus on chromosome 12.

Journal Article JAMA · October 15, 1997 Featured Publication CONTEXT: Four genetic loci have been identified as contributing to Alzheimer disease (AD), including the amyloid precursor protein gene, the presenilin 1 gene, the presenilin 2 gene, and the apolipoprotein E gene, but do not account for all the genetic ris ... Link to item Cite

Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23.

Journal Article Am J Hum Genet · October 1997 Featured Publication Inherited cardiomyopathies may arise from mutations in genes that are normally expressed in both heart and skeletal muscle and therefore may be accompanied by skeletal muscle weakness. Phenotypically, patients with familial dilated cardiomyopathy (FDC) sho ... Full text Link to item Cite

Chorea-acanthocytosis: genetic linkage to chromosome 9q21.

Journal Article Am J Hum Genet · October 1997 Featured Publication Chorea-acanthocytosis (CHAC) is a rare autosomal recessive disorder characterized by progressive neurodegeneration and unusual red-cell morphology (acanthocytosis), with onset in the third to fifth decade of life. Neurological impairment with acanthocytosi ... Full text Link to item Cite

Confirmation of linkage of oculopharyngeal muscular dystrophy to chromosome 14q11.2-q13 in American families suggests the existence of a second causal mutation.

Journal Article Neuromuscul Disord · October 1997 Featured Publication Oculopharyngeal muscular dystrophy (OPMD) is a late-onset, autosomal dominant disorder characterized by progressive ptosis, dysphagia, and extremity weakness. Linkage of OPMD to 14q11.2-q13 has been reported in a series of French-Canadian families. Tightly ... Full text Link to item Cite

Phenotypic heterogeneity in families with age-related macular degeneration.

Journal Article Am J Ophthalmol · September 1997 Featured Publication PURPOSE: To evaluate the ophthalmic phenotype in families with three or more individuals who have age-related maculopathy. METHODS: Eight families were identified at academic centers in Massachusetts and North Carolina. Macular findings were graded based o ... Full text Link to item Cite

Confirmation of a second locus for CMT2 and evidence for additional genetic heterogeneity.

Journal Article Neurogenetics · September 1997 Featured Publication The Charcot-Marie-Tooth (CMT) neuropathies are a group of disorders exhibiting neurophysical, pathological and genetic heterogeneity. CMT2 is a diagnostic subtype of this group of disorders characterized by variable expression and age-of-onset and normal o ... Full text Link to item Cite

Locus heterogeneity, anticipation and reduction of the chromosome 2p minimal candidate region in autosomal dominant familial spastic paraplegia.

Journal Article Neurogenetics · September 1997 Featured Publication We examined 11 Caucasian pedigrees with autosomal dominant 'uncomplicated' familial spastic paraplegia (SPG) for linkage to the previously identified loci on chromosomes 2p, 14q and 15q. Chromosome 15q was excluded for all families. Five families showed ev ... Full text Link to item Cite

Apolipoprotein E epsilon2 does not increase risk of early-onset sporadic Alzheimer's disease.

Journal Article Ann Neurol · September 1997 Featured Publication We examined the association of apolipoprotein E (ApoE) genotype and the risk of early-onset Alzheimer's disease (AD) in 209 white early-onset sporadic cases (43% male) and 303 white controls (48% male) of similar age distribution. The risk of AD was signif ... Full text Link to item Cite

Further exclusion of FSHD1B from the telomeric region of 10q.

Journal Article Neurogenetics · September 1997 Featured Publication The localization of the gene for the majority of cases of facioscapulohumeral muscular dystrophy is established as 4q35-qter (FSHD1A), although locus heterogeneity has been demonstrated with a minority of families unlinked to 4q. In FSHD1A, the disease is ... Full text Link to item Cite

Genetic complexity and Parkinson's disease. Deane Laboratory Parkinson Disease Research Group.

Journal Article Science · July 18, 1997 Featured Publication Full text Link to item Cite

Exclusion of TIMP3 as a candidate locus in age-related macular degeneration.

Journal Article Invest Ophthalmol Vis Sci · May 1997 Featured Publication PURPOSE: Age-related macular degeneration (AMD) is a genetically complex disorder. Tissue inhibitor of metalloproteinases-3 (TIMP3) on chromosome 22 has been identified as a gene that is mutated in Sosby's fundus dystrophy, an autosomal-dominant macular dy ... Link to item Cite

Report on the Fifth International Workshop on Chromosome 9 held at Eynsham, Oxfordshire, UK, September 4-6, 1996.

Journal Article Ann Hum Genet · May 1997 Featured Publication The Fifth International workshop on chromosome 9 comprised a gathering of 36 scientists from seven countries and included a fairly even distribution of interests along chromosome 9 as well as a strong input from more global activities and from comparative ... Full text Link to item Cite

D2 dopamine receptor A1 allele in Alzheimer disease and aging.

Journal Article Arch Neurol · March 1997 Featured Publication BACKGROUND: The apolipoprotein E4 (APOE*4) allele is a major risk factor for the common forms of late-onset Alzheimer disease (AD), but does not account for all the genetic variation in late-onset AD; hence, other genetic markers must be examined. The D2 d ... Full text Link to item Cite

Genetic analysis of complex diseases.

Journal Article Science · February 28, 1997 Featured Publication Link to item Cite

Familial spastic paraparesis: evaluation of locus heterogeneity, anticipation, and haplotype mapping of the SPG4 locus on the short arm of chromosome 2.

Journal Article Am J Med Genet · February 21, 1997 Featured Publication Familial spastic paraparesis (SPG) is a clinically and genetically heterogeneous group of disorders. At least three loci have been implicated in autosomal dominant pure SPG and mutations in either of two loci may cause the X-linked form. Although the penet ... Full text Link to item Cite

False positive rates in a genomic screen for complex quantitative traits.

Journal Article Genet Epidemiol · 1997 Featured Publication We conducted a genomic screen for genes associated with Q1, Q2, and Q3 in 239 nuclear pedigrees from replicate 115, Problem Set 2A. We compared false positive (FP) and true positive (TP) rates for three significance levels and two map densities. Using the ... Full text Link to item Cite

Prognosis in familial amyotrophic lateral sclerosis: progression and survival in patients with glu100gly and ala4val mutations in Cu,Zn superoxide dismutase.

Journal Article Neurology · January 1997 Featured Publication Familial amyotrophic lateral sclerosis (FALS) is an autosomal dominant neurodegenerative disorder affecting motor neurons and is associated with mutations in the Cu,Zn superoxide dismutase gene (SOD1) in a subset (approximately 15%) of FALS families. We an ... Full text Link to item Cite

A novel splice site mutation (156 + 1G-->A) in the TSC2 gene.

Journal Article Hum Mutat · 1997 Featured Publication Full text Link to item Cite

No association or linkage between an intronic polymorphism of presenilin-1 and sporadic or late-onset familial Alzheimer disease.

Journal Article Genet Epidemiol · 1997 Featured Publication Recent reports have shown an association between an intronic polymorphism of the presenilin-1 (PSEN1) gene and late-onset (age at onset > 65) familial and sporadic (no family history) Alzheimer disease (AD). The reported association was independent of the ... Full text Link to item Cite

Early detection of Alzheimer's disease by combining apolipoprotein E and neuroimaging.

Journal Article Ann N Y Acad Sci · December 16, 1996 Featured Publication New treatments for Alzheimer's disease (AD) are more likely to slow or halt disease progression rather than to reverse existing neuronal damage. Identifying persons with mild cognitive complaints who are at risk for AD will allow investigators to apply ant ... Full text Link to item Cite

No association between alpha 1-antichymotrypsin and familial Alzheimer's disease.

Journal Article Ann N Y Acad Sci · December 16, 1996 Featured Publication Alzheimer's disease (AD) is the most common mid to late age-of-onset neurodegenerative disorder. AD has a strong and complex genetic etiology, and multiple genes, acting independently and/or interacting, likely affect the risk of developing AD. Several gen ... Full text Link to item Cite

Linkage of frontotemporal dementia to chromosome 17: clinical and neuropathological characterization of phenotype.

Journal Article Am J Hum Genet · December 1996 Featured Publication Frontotemporal dementia is a behavioral disorder of insidious onset and variable progression. Clinically, its early features reflect frontal lobe dysfunction characterized by personality change, deterioration in memory and executive functions, and stereoty ... Link to item Cite

Confirmation of linkage of oculopharyngeal muscular dystrophy to chromosome 14q11.2-q13.

Journal Article Ann Neurol · November 1996 Featured Publication Oculopharyngeal muscular dystrophy is a late-onset, autosomally dominant disorder characterized by progressive ptosis, dysphagia, and extremity weakness. Linkage of oculopharyngeal muscular dystrophy to 14q11.2-q13 has been reported in a series of French C ... Full text Link to item Cite

Linkage of scapuloperoneal spinal muscular atrophy to chromosome 12q24.1-q24.31.

Journal Article Hum Mol Genet · September 1996 Featured Publication Scapuloperoneal (SP) syndromes are heterogeneous neuromuscular disorders which are characterized by weakness in the distribution of shoulder girdle and peroneal muscles. SP syndromes can resemble facioscapulohumeral muscular dystrophy (FSH) due to scapular ... Full text Link to item Cite

Genetic studies in Alzheimer's disease with an NACP/alpha-synuclein polymorphism.

Journal Article Ann Neurol · August 1996 Featured Publication The non-Abeta component of Alzheimer's disease amyloid (NAC) is copurified with amyloid from the brain tissue of Alzheimer's disease victims and is immunohistochemically localized to amyloid fibrils. NAC is a hydrophobic peptide fragment from the NAC precu ... Full text Link to item Cite

Lack of association of very low density lipoprotein receptor gene polymorphism with Caucasian Alzheimer's disease.

Journal Article Ann Neurol · August 1996 Featured Publication To determine whether the association of the very low density lipoprotein receptor (VLDL-R) gene with Alzheimer's disease (AD), which has recently been identified in Japanese AD patients, is commonly observed in AD patients of other ethnic backgrounds, we h ... Full text Link to item Cite

A complete genomic screen for multiple sclerosis underscores a role for the major histocompatability complex. The Multiple Sclerosis Genetics Group.

Journal Article Nat Genet · August 1996 Featured Publication Multiple sclerosis (MS), an inflammatory autoimmune demyelinating disorder of the central nervous system, is the most common cause of acquired neurological dysfunction arising in the second to fourth decades of life. A genetic component to MS is indicated ... Full text Link to item Cite

Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37.

Journal Article Hum Mol Genet · July 1996 Featured Publication The Bethlem myopathy, a childhood onset autosomal dominant myopathy with joint contractures, has recently been localized to 21q in a series of Dutch families and the alpha 1 and alpha 2 subunits of type VI collagen (COL6A1 and COL6A2) have been postulated ... Full text Link to item Cite

Hereditary spastic paraplegia: advances in genetic research. Hereditary Spastic Paraplegia Working group.

Journal Article Neurology · June 1996 Featured Publication Hereditary spastic paraplegia (HSP) is a diverse group of inherited disorders characterized by progressive lower-extremity spasticity and weakness. Insight into the genetic basis of these disorders is expanding rapidly. Uncomplicated autosomal dominant, au ... Full text Link to item Cite

Alzheimer's disease and apolipoprotein E-4 allele in an Amish population.

Journal Article Ann Neurol · June 1996 Featured Publication Alzheimer's Disease (AD) is a complex genetic disorder with four loci already identified. Mutations in three of these, the amyloid precursor protein, presenilin I, and presenilin II, cause early-onset AD. The apolipoprotein E (APOE) gene contributes primar ... Full text Link to item Cite

Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2.

Journal Article Nat Genet · June 1996 Featured Publication Hereditary haemorrhagic telangiectasia, or Osler-Rendu-Weber (ORW) syndrome, is an autosomal dominant vascular dysplasia. So far, two loci have been demonstrated for ORW. Linkage studies established an ORW locus at chromosome 9q3; endoglin was subsequently ... Full text Link to item Cite

Ocular motility in North Carolina autosomal dominant ataxia.

Journal Article J Neuroophthalmol · June 1996 Featured Publication The term "vestibulocerebellar ataxia" has been applied to a rare, autosomal dominant, late-onset disease with unusual ocular motility findings. We examined the ocular motility of 18 family members from two different kindreds and found 11 affected individua ... Full text Link to item Cite

Presenilin-1 polymorphism and Alzheimer's disease.

Journal Article Lancet · June 1, 1996 Featured Publication Link to item Cite

No association between very low density lipoprotein receptor (VLDL-R) and Alzheimer disease in American Caucasians.

Journal Article Neurosci Lett · May 10, 1996 Featured Publication The very low density lipoprotein receptor gene (VLDL-R) is a receptor for apolipoprotein-epsilon (APOE)-containing lipoproteins, and thus has been suggested as a possible risk factor for Alzheimer disease (AD). Recently, Okuizumi et al. [Nature Genet, II ( ... Full text Link to item Cite

Presenilin-1 polymorphism and Alzheimer's disease.

Journal Article Lancet · April 27, 1996 Featured Publication Link to item Cite

Linkage of a gene for macular corneal dystrophy to chromosome 16.

Journal Article Am J Hum Genet · April 1996 Featured Publication Autosomal recessive macular corneal dystrophy (MCD) is a heterogeneous disorder leading to visual impairment. Sixteen American and Icelandic families (11 type I and 5 type II) were analyzed for linkage, by use of 208 polymorphic microsatellite markers. A s ... Link to item Cite

Periodic vestibulocerebellar ataxia, an autosomal dominant ataxia with defective smooth pursuit, is genetically distinct from other autosomal dominant ataxias.

Journal Article Arch Neurol · April 1996 Featured Publication BACKGROUND: Periodic vestibulocerebellar ataxia is an autosomal dominant disorder characterized by defective smooth pursuit, gaze-evoked nystagmus, ataxia, and vertigo. The age of onset ranges from the third to the sixth decade. To date, all patients have ... Full text Link to item Cite

No genetic effect of alpha1-antichymotrypsin in Alzheimer disease.

Journal Article Genomics · April 1, 1996 Featured Publication Alzheimer disease (AD) is the most common neurodegenerative disorder for individuals over the age of 40. AD has a complex etiology, and it is likely that multiple genes, acting independently and/or interacting, affect the risk of developing AD. Several gen ... Full text Link to item Cite

Morphological, biochemical, and genetic support for an apolipoprotein E effect on microtubular metabolism.

Journal Article Ann N Y Acad Sci · January 17, 1996 Featured Publication There are two distinct viewpoints on the association of the inheritance of apolipoprotein E (APOE) alleles and the age of onset distribution of Alzheimer's disease (AD): genetic and phenotypic expression. There have been multiple corroborations of the APOE ... Full text Link to item Cite

The distinction between juvenile and adult-onset primary open-angle glaucoma.

Other Am J Hum Genet · January 1996 Featured Publication Link to item Cite

Genetic susceptibility to Alzheimer disease.

Journal Article Trends Genet · December 1995 Featured Publication Alzheimer disease (AD) is the leading cause of dementia in the elderly. Less than a decade ago, it was questioned as to whether or not genes were even involved in anything but rare early onset AD. Since that time, using a variety of genetic epidemiological ... Full text Link to item Cite

Mutation analysis of the TSC2 gene in an African-American family.

Journal Article Hum Mol Genet · December 1995 Featured Publication Tuberous sclerosis complex is an autosomal dominant disorder with loci on chromosome 9q34 (TSC1) and chromosome 16p13.3 (TSC2). The TSC2 gene has been isolated. To date, only a small number of intragenic deletional and point mutations have been detected, a ... Full text Link to item Cite

Bethlem myopathy is not allelic to limb-girdle muscular dystrophy type 1A.

Journal Article Am J Med Genet · August 28, 1995 Featured Publication Full text Link to item Cite

A de novo frame-shift mutation in the tuberin gene.

Journal Article Hum Mol Genet · August 1995 Featured Publication Full text Link to item Cite

Physical and genetic mapping of the CMT4A locus and exclusion of PMP-2 as the defect in CMT4A.

Journal Article Genomics · July 20, 1995 Featured Publication We have previously localized one form of the autosomal recessive Charcot-Marie-Tooth disease type 4 (CMT4A) to a 5-cM region of chromosome 8q13-q21. We now report the formation of a 7-Mb YAC contig spanning the region. This contig was used to map nine addi ... Full text Link to item Cite

There is a pathologic relationship between ApoE-epsilon 4 and Alzheimer's disease.

Journal Article Arch Neurol · July 1995 Featured Publication Full text Link to item Cite

Blepharophimosis syndrome is linked to chromosome 3q.

Journal Article Hum Mol Genet · March 1995 Featured Publication Blepharophimosis syndrome (BPES, blepharophimosis eyelid syndrome) is a distinctive congenital eyelid malformation which can occur sporadically or be inherited in an autosomal dominant fashion. Previous reports have described associated cytogenetic abnorma ... Full text Link to item Cite

Influence of the susceptibility genes apolipoprotein E-epsilon 4 and apolipoprotein E-epsilon 2 on the rate of disease expressivity of late-onset Alzheimer's disease.

Journal Article Arzneimittelforschung · March 1995 Featured Publication Apolipoprotein E-epsilon 4 (APOE4, gene; apoE4, protein) is a susceptibility gene or risk factor for Alzheimer's disease. The genetic relevance of APOE4 has been widely confirmed. The APOE gene is not a disease locus, with specific mutations causing Alzhei ... Link to item Cite

Apolipoprotein E E4 allele and risk of dementia.

Journal Article JAMA · February 1, 1995 Featured Publication Link to item Cite

The apolipoprotein E E4 allele and sex-specific risk of Alzheimer's disease.

Journal Article JAMA · February 1, 1995 Featured Publication Link to item Cite

Apolipoprotein E in Creutzfeldt-Jacob disease.

Journal Article Lancet · January 7, 1995 Featured Publication Link to item Cite

Consortium fine localization of X-linked Charcot-Marie-Tooth disease (CMTX1): additional support that connexin32 is the defect in CMTX1.

Journal Article Hum Hered · 1995 Featured Publication Charcot-Marie-Tooth (CMT) disease is the most common form of inherited motor and sensory neuropathy. X-linked CMT (CMTX1) has been localized to the pericentric region of the X chromosome. Recently, mutations have been defined in the connexin32 gene that co ... Full text Link to item Cite

Delayed onset of Alzheimer's disease with nonsteroidal anti-inflammatory and histamine H2 blocking drugs.

Journal Article Neurobiol Aging · 1995 Featured Publication Factors that modify onset of Alzheimer's disease (AD) may be revealed by comparing environmental exposures in affected and unaffected members of discordant twin pairs or sibships. Among siblings at high risk of AD, sustained use of nonsteroidal anti-inflam ... Full text Link to item Cite

Dentatorubral-pallidoluysian atrophy and Haw River syndrome.

Journal Article Lancet · December 17, 1994 Featured Publication Full text Link to item Cite

Genetic heterogeneity in hereditary haemorrhagic telangiectasia: possible correlation with clinical phenotype.

Journal Article J Med Genet · December 1994 Featured Publication Hereditary haemorrhagic telangiectasia (HHT) or Osler-Weber-Rendu syndrome is an autosomal dominant vascular dysplasia characterised by recurrent haemorrhage. Our initial linkage studies found an HHT gene to be localised to 9q3 in two large kindreds. In th ... Full text Link to item Cite

Isoform-specific interactions of apolipoprotein E with the microtubule-associated protein MAP2c: implications for Alzheimer's disease.

Journal Article Neurosci Lett · November 21, 1994 Featured Publication The apolipoprotein E type 4 allele is a susceptibility gene for late-onset Alzheimer's disease. Apolipoprotein E is found in neurons, some of which contain paired helical filaments made of the microtubule-associated protein tau. Previous studies have demon ... Full text Link to item Cite

Isoform-specific interactions of apolipoprotein E with microtubule-associated protein tau: implications for Alzheimer disease.

Journal Article Proc Natl Acad Sci U S A · November 8, 1994 Featured Publication The apolipoprotein E (apoE) type 4 allele (APOE4) is a susceptibility gene for late-onset familial and sporadic Alzheimer disease. ApoE is found in some neurofibrillary tangle-bearing neurons, one of the major pathologic hallmarks of the disease. Neurofibr ... Full text Link to item Cite

Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers.

Journal Article Hum Mol Genet · October 1994 Featured Publication 'Pure' autosomal dominant familial spastic paraplegia (SPG) is a neurodegenerative disease which clinically manifests as spasticity of the lower limbs. Dominantly inherited SPG is known to be clinically heterogenous and has been classified into late-onset ... Full text Link to item Cite

Apolipoprotein E is localized to the cytoplasm of human cortical neurons: a light and electron microscopic study.

Journal Article J Neuropathol Exp Neurol · September 1994 Featured Publication To clarify the localization of the glial protein apolipoprotein E (apoE) in human cortical neurons, we employed specific immunoelectron microscopy using a monoclonal antibody to human apoE in surgical specimens of temporal lobe. The specimens were rapidly ... Full text Link to item Cite

Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity.

Journal Article Hum Mol Genet · August 1994 Featured Publication 'Pure' familial spastic paraplegias (FSP) are neurodegenerative disorders that are clinically characterized by progressive spasticity of the lower limbs and are inherited as autosomal dominant (DFSP) or autosomal recessive (RFSP) traits. The primary defect ... Full text Link to item Cite

A novel mutation in the von Hippel-Lindau gene.

Journal Article Hum Mol Genet · August 1994 Featured Publication Full text Link to item Cite

The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family.

Journal Article Nat Genet · August 1994 Featured Publication Haw River Syndrome (HRS) is a dominant neurodegenerative disease that has affected five generations of an African-American family in rural North Carolina. The disorder represents a unique spectrum of multiple system degenerations resembling Huntington's di ... Full text Link to item Cite

Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35.

Journal Article Nat Genet · July 1994 Featured Publication Amyotrophic lateral sclerosis (ALS) usually presents as a sporadic disorder of motor neurons. However, familial forms of ALS have been described--autosomal dominant forms (ALS1, ALS3), clinically indistinguishable from the sporadic form, and autosomal rece ... Full text Link to item Cite

Apolipoprotein E is present in hippocampal neurons without neurofibrillary tangles in Alzheimer's disease and in age-matched controls.

Journal Article Exp Neurol · July 1994 Featured Publication Apolipoprotein E (apoE, protein; APOE, gene) is a susceptibility gene for late-onset familial and sporadic Alzheimer's disease (AD). To examine the role of apoE in the pathogenesis of AD, we used immunocytochemistry to compare apoE localization in the hipp ... Full text Link to item Cite

Clinical application of apolipoprotein E genotyping to Alzheimer's disease.

Journal Article Lancet · June 18, 1994 Featured Publication Full text Link to item Cite

An investigation of genetic heterogeneity and linkage disequilibrium in 161 families with spinal muscular atrophy.

Journal Article Genomics · May 1, 1994 Featured Publication We performed linkage analysis of 161 families with spinal muscular atrophy (SMA) in which affected individuals suffer from the intermediate or mild form of the disease (Types II or III). Markers for six loci encompassing the chromosome 5q11.2-q13.3 region ... Full text Link to item Cite

Development of a microsatellite genetic map spanning 5q31-q33 and subsequent placement of the LGMD1A locus between D5S178 and IL9.

Journal Article Neuromuscul Disord · 1994 Featured Publication Limb-girdle muscular dystrophy (LGMD) is a genetically and clinically heterogeneous group of disorders. We previously localized an autosomal dominant form of the disorder (LGMD1A) to chromosome 5q22-31 by linkage analysis in a single large pedigree. After ... Full text Link to item Cite

Complex genetic disease: can genetic strategies in Alzheimer's disease and new genetic mechanisms be applied to epilepsy?

Journal Article Epilepsia · 1994 Featured Publication Strategies used in molecular genetics have changed modern neurology. The gene or genes responsible for several major neurologic diseases have now been identified using "reverse" or positional genetics. Unexpected new genetic mechanisms have been discovered ... Full text Link to item Cite

Increased amyloid beta-peptide deposition in cerebral cortex as a consequence of apolipoprotein E genotype in late-onset Alzheimer disease.

Journal Article Proc Natl Acad Sci U S A · October 15, 1993 Featured Publication Amyloid beta-peptide (A beta) deposition in senile plaques and cerebral vessels is a neuropathological feature of Alzheimer disease (AD). We examined the possibility that commonly observed variability in A beta deposition in late-onset AD might be related ... Full text Link to item Cite

Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q.

Journal Article Hum Mol Genet · October 1993 Featured Publication Autosomal recessive Charcot-Marie-Tooth (CMT) disease (CMT4) is a complex group of severe childhood motor and sensory neuropathies, characterized by an early age of onset with rapidly progressive distal limb weakness and atrophy. One subgroup designated CM ... Full text Link to item Cite

Flanking markers define the X-linked hypophosphatemic rickets gene locus.

Journal Article J Bone Miner Res · September 1993 Featured Publication X-linked hypophosphatemic rickets (HYP) is an X-linked dominant disorder characterized by decreased renal tubular phosphate reabsorption and consequent hypophosphatemia. The defect in tubular phosphate reabsorption is probably secondary to an unidentified ... Full text Link to item Cite

Binding of human apolipoprotein E to synthetic amyloid beta peptide: isoform-specific effects and implications for late-onset Alzheimer disease.

Journal Article Proc Natl Acad Sci U S A · September 1, 1993 Featured Publication Apolipoprotein E (apoE), a plasma apolipoprotein that plays a central role in lipoprotein metabolism, is localized in the senile plaques, congophilic angiopathy, and neurofibrillary tangles of Alzheimer disease. Late-onset familial and sporadic Alzheimer d ... Full text Link to item Cite

Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families.

Journal Article Science · August 13, 1993 Featured Publication The apolipoprotein E type 4 allele (APOE-epsilon 4) is genetically associated with the common late onset familial and sporadic forms of Alzheimer's disease (AD). Risk for AD increased from 20% to 90% and mean age at onset decreased from 84 to 68 years with ... Full text Link to item Cite

Association of apolipoprotein E allele epsilon 4 with late-onset familial and sporadic Alzheimer's disease.

Journal Article Neurology · August 1993 Featured Publication Apolipoprotein E, type epsilon 4 allele (APOE epsilon 4), is associated with late-onset familial Alzheimer's disease (AD). There is high avidity and specific binding of amyloid beta-peptide with the protein ApoE. To test the hypothesis that late-onset fami ... Full text Link to item Cite

Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity.

Journal Article Genomics · August 1993 Featured Publication Charcot-Marie-Tooth (CMT) disease type 2 (CMT2) is an inherited peripheral neuropathy characterized by variable age of onset and normal or slightly diminished nerve conduction velocity. CMT2 is pathologically and genetically distinct from CMT type 1 (CMT1) ... Full text Link to item Cite

Genetic mapping of dinucleotide repeat polymorphisms and von Hippel-Lindau disease on chromosome 3p25-26.

Journal Article J Med Genet · June 1993 Featured Publication A genetic map of highly polymorphic microsatellite markers spanning the von Hippel-Lindau region (VHL) of 3p25 was constructed using the CEPH reference pedigrees. A greater than 1000:1 odds map of pter-D3S1038-RAF1-D3S651-D3S656-D3S110- D3S1255-cen was fou ... Full text Link to item Cite

Apolipoprotein E: high-avidity binding to beta-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease.

Journal Article Proc Natl Acad Sci U S A · March 1, 1993 Featured Publication Apolipoprotein E is immunochemically localized to the senile plaques, vascular amyloid, and neurofibrillary tangles of Alzheimer disease. In vitro, apolipoprotein E in cerebrospinal fluid binds to synthetic beta A4 peptide (the primary constituent of the s ... Full text Link to item Cite

Linkage localization of X-linked Charcot-Marie-Tooth disease.

Journal Article Am J Hum Genet · February 1993 Featured Publication Charcot-Marie-Tooth disease (CMT), also known as hereditary motor and sensory neuropathy, is a heterogeneous group of slowly progressive, degenerative disorders of peripheral nerve. X-linked CMT (CMTX) (McKusick 302800), a subdivision of type I, or demyeli ... Link to item Cite

Linkage analysis in familial Alzheimer disease: description of the Duke and Boston data sets.

Journal Article Genet Epidemiol · 1993 Featured Publication Familial Alzheimer diseases is a neurological disorder of adult onset. Three research centers have each contributed their families and genetic linkage data for combined analyses. The data from the Duke and Boston centers, comprising 73 pedigrees for whom n ... Full text Link to item Cite

Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14.

Journal Article Nat Genet · December 1992 Featured Publication Familial Alzheimer's disease (FAD) has been shown to be genetically heterogeneous, with a very small proportion of early onset pedigrees being associated with mutations in the amyloid precursor protein (APP) gene on chromosome 21, and some late onset pedig ... Full text Link to item Cite

Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q.

Journal Article Nat Genet · December 1992 Featured Publication Autosomal recessive Duchenne-like muscular dystrophy (DLMD) is a severe dystrophic myopathy. The incidence is unknown because of its clinical similarity to Duchenne muscular dystrophy (DMD). Three highly inbred DLMD families from Tunisia were analysed for ... Full text Link to item Cite

Regional mapping of facioscapulohumeral muscular dystrophy gene on 4q35: combined analysis of an international consortium.

Journal Article Am J Hum Genet · August 1992 Featured Publication Members of an international consortium for linkage analysis of the facioscapulohumeral muscular dystrophy (FSHD) gene have pooled data for joint analyses, in an attempt to determine the precise location of the FSHD gene and the order of four DNA markers on ... Link to item Cite

Multilocus mapping of the X-linked hypophosphatemic rickets gene.

Journal Article J Clin Endocrinol Metab · July 1992 Featured Publication X-linked hypophosphatemic rickets (HYP), the most common form of familial hypophosphatemic (vitamin D-resistant) rickets, is an X-linked dominant disorder characterized by decreased renal tubular phosphate reabsorption and consequent hypophosphatemia. Desp ... Full text Link to item Cite

North Carolina macular dystrophy is assigned to chromosome 6.

Journal Article Genomics · July 1992 Featured Publication North Carolina macular dystrophy (NCMD) is an autosomal dominant macular dystrophy causing impaired central vision at an early age, is completely penetrant, and is present in a single large family. With the development of the hypervariable microsatellite ( ... Full text Link to item Cite

Recombination of 4p16 DNA markers in an unusual family with Huntington disease.

Journal Article Am J Hum Genet · June 1992 Featured Publication The Huntington disease (HD) mutation has been localized to human chromosome 4p16, in a 6-Mb region between the D4S10 locus and the 4p telomere. In a report by Robbins et al., a family was identified in which an affected individual failed to inherit three a ... Link to item Cite

Dinucleotide repeat polymorphisms at the SCN4A locus suggest allelic heterogeneity of hyperkalemic periodic paralysis and paramyotonia congenita.

Journal Article Am J Hum Genet · May 1992 Featured Publication Two polymorphic dinucleotide repeats--one (dGdA)n and one (dGdT)n--have been identified at the SCN4A locus, encoding the alpha-subunit of the adult skeletal muscle sodium channel. When typed using PCR, the dinucleotide repeats display 4 and 10 alleles, res ... Link to item Cite

Linkage studies in Charcot-Marie-Tooth disease type 2: evidence that CMT types 1 and 2 are distinct genetic entities.

Journal Article Neurology · March 1992 Featured Publication Charcot-Marie-Tooth disease (CMT), the most common inherited peripheral neuropathy, is a progressive sensorimotor neuropathy divided into types 1 and 2 based upon electrophysiologic and neuropathologic differences. The more common autosomal dominant form o ... Full text Link to item Cite

Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita.

Journal Article Cell · February 21, 1992 Featured Publication Paramyotonia congenita (PMC), a dominant disorder featuring cold-induced myotonia (muscle stiffness), has recently been genetically linked to a candidate gene, the skeletal muscle sodium channel gene SCN4A. We have now established that SCN4A is the disease ... Full text Link to item Cite

Report of the Second International Workshop on Human Chromosome 19 mapping 1992.

Journal Article Cytogenet Cell Genet · 1992 Featured Publication Full text Link to item Cite

Segregation analysis in cutaneous malignant melanoma/dysplastic nevus syndrome families.

Journal Article Cytogenet Cell Genet · 1992 Featured Publication Full text Link to item Cite

A StuI polymorphism on chromosome 3p14.1-14.2 (D3S622) defined by two polymorphic StuI sites 2.4 kb apart.

Journal Article Nucleic Acids Res · November 25, 1991 Featured Publication Full text Link to item Cite

North Carolina macular dystrophy: exclusion map using RFLPs and microsatellites.

Journal Article Genomics · November 1991 Featured Publication The autosomal dominant macular dystrophies are a confusing group of poorly understood diseases. Linkage studies will greatly aid our classification of these disorders and hopefully provide insight into central retinal function and dysfunction such as occur ... Full text Link to item Cite

Genetic linkage analysis of nerve growth factor (beta) in familial Alzheimer's disease.

Journal Article Ann Neurol · August 1991 Featured Publication Recent studies have not shown linkage of late-onset (mean age, greater than 60 years) familial Alzheimer's disease (FAD) to the chromosome 21 locus reported linked to early-onset FAD. Beta nerve growth factor (beta-NGF) has been considered a candidate gene ... Full text Link to item Cite

RsaI RFLP for electron transport flavoprotein-beta(ETFB).

Journal Article Nucleic Acids Res · July 25, 1991 Featured Publication Full text Link to item Cite

Linkage studies in familial Alzheimer disease: evidence for chromosome 19 linkage.

Journal Article Am J Hum Genet · June 1991 Featured Publication A genetic component in the etiology of Alzheimer disease (AD) has been supported by indirect evidence for several years, with autosomal dominant inheritance with age-dependent penetrance being suggested to explain the familial aggregation of affecteds. St. ... Link to item Cite

Linkage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity.

Journal Article N Engl J Med · May 16, 1991 Featured Publication BACKGROUND: Amyotrophic lateral sclerosis is a progressive neurologic disorder that commonly results in paralysis and death. Despite more than a century of research, no cause of, cure for, or means of preventing this disorder has been found. In a minority ... Full text Link to item Cite

Localization of Charcot-Marie-Tooth disease type 1a (CMT1A) to chromosome 17p11.2.

Journal Article Genomics · April 1991 Featured Publication Charcot-Marie-Tooth (CMT) disease type 1a has been previously localized to chromosome 17 using the markers D17S58 and D17S71. In that report we were unable to provide unequivocal localization of the CMT1A gene on either the proximal p or the q arm. Therefo ... Full text Link to item Cite

Linkage analysis of familial Alzheimer disease, using chromosome 21 markers.

Journal Article Am J Hum Genet · March 1991 Featured Publication Chromosome 21 markers were tested for linkage to familial Alzheimer disease (FAD) in 48 kindreds. These families had multiple cases of Alzheimer disease (AD) in 2 or more generations with family age-at-onset means (M) ranging from 41 to 83 years. Included ... Link to item Cite

MspI RFLP for microtubule associated protein-2 (MAP2).

Journal Article Nucleic Acids Res · February 25, 1991 Featured Publication Full text Link to item Cite

Support of linkage of Gerstmann-Sträussler-Scheinker syndrome to the prion protein gene on chromosome 20p12-pter.

Journal Article Genomics · February 1991 Featured Publication Gerstmann-Sträussler-Scheinker syndrome (GSS) is a human transmissible spongiform encephalopathy recently linked to the human analog of the prion protein gene (PRNP) on chromosome 20p. We have studied a large German GSS family for linkage to PRNP and have ... Full text Link to item Cite

Identification of Duchenne muscular dystrophy genomic probe P20 constant Taql fragment corresponding to the EcoRV and Mspl polymorphisms.

Journal Article Prenat Diagn · January 1991 Featured Publication The majority of Duchenne and Becker muscular dystrophy cases are caused by deletions observable in Southern blots with cDNA probes for the gene. When the deletion includes polymorphic probes, they may be used to determine carrier status by deletion segrega ... Full text Link to item Cite

A molecular genetic approach to amyotrophic lateral sclerosis.

Journal Article Int J Neurol · 1991 Featured Publication Disorders of the motor neurons may affect both the upper and lower neurons, primarily the lower motor neurons as in the spinal muscular atrophies are primarily the upper motor neurons as in the familial spastic paraplegias. Amyotrophic lateral sclerosis is ... Link to item Cite

Linkage studies in tuberous sclerosis. Chromosome 9?, 11?, or maybe 14!

Journal Article Ann N Y Acad Sci · 1991 Featured Publication Published reports show linkage of tuberous sclerosis (TSC) to either chromosome 9 in some families or chromosome 11 in other families. We studied 243 individuals (82 with TSC) from 16 multigenerational TSC families. The diagnosis of TSC conformed to the cr ... Full text Link to item Cite

The human glycine receptor: a new probe that is linked to the X-linked hypophosphatemic rickets gene.

Journal Article Genomics · July 1990 Featured Publication We undertook linkage analysis in four large North Carolina kindreds with X-linked hypophosphatemic rickets (HYP) using a newly defined polymorphic probe, derived from the 5' untranslated portion of the human glycine receptor (GLR). Two-point linkage analys ... Full text Link to item Cite

D21S194, a jump clone from D21S16.

Journal Article Nucleic Acids Res · April 11, 1990 Featured Publication Full text Link to item Cite

Presymptomatic and prenatal diagnosis in myotonic dystrophy by genetic linkage studies.

Journal Article Neurology · April 1990 Featured Publication Myotonic dystrophy (DM) is an autosomal dominant disorder with age-dependent penetrance and extremely variable expressivity. With the genetic markers CKMM and ApoC2, both of which are tightly linked and centromeric to DM, presymptomatic and prenatal diagno ... Full text Link to item Cite

Confirmation of linkage in von Hippel-Lindau disease.

Journal Article Genomics · March 1990 Featured Publication Von Hippel-Lindau (VHL) disease was initially reported to be linked to the RAF1 oncogene (3p25). We have ascertained and sampled two large multigenerational VHL families for linkage studies, in order to confirm the localization of the VHL gene as a prelude ... Full text Link to item Cite

Tight linkage of creatine kinase (CKMM) to myotonic dystrophy on chromosome 19.

Journal Article Neurology · February 1990 Featured Publication The myotonic dystrophy (DM) gene is localized to the proximal long arm of chromosome 19. There have been reports of tight linkage to a number of chromosome 19 markers, including APOC2 and creatine kinase muscle type (CKMM), but they did not establish orien ... Full text Link to item Cite

Report of the committee on the genetic constitution of chromosome 19.

Journal Article Cytogenet Cell Genet · 1990 Featured Publication Full text Link to item Cite

Linkage studies of late-onset familial Alzheimer's disease.

Journal Article Adv Neurol · 1990 Featured Publication Link to item Cite

Mild cystic fibrosis linked to chromosome 7q22 markers with an uncommon haplotype.

Journal Article Ann Intern Med · November 15, 1989 Featured Publication Cystic fibrosis is the commonest autosomal recessive genetic disorder among northern Europeans and their descendants. Recently, investigators have mapped the gene for cystic fibrosis to chromosome 7. We report the results of DNA linkage analysis in a consa ... Full text Link to item Cite

An exclusion map for facioscapulohumeral (Landouzy-Déjérine) disease.

Journal Article J Med Genet · August 1989 Featured Publication By using the genetic linkage data between the facioscapulohumeral muscular dystrophy (FSHD) gene and 57 markers on various autosomes, we have constructed an exclusion map for this disorder. The maximum likelihood location of the FSHD gene and the percentag ... Full text Link to item Cite

Linkage analysis in the spinal muscular atrophy type of facioscapulohumeral disease.

Journal Article J Med Genet · August 1989 Featured Publication Facioscapulohumeral disease is probably a heterogeneous disorder. We have ascertained and sampled two multigeneration families with the neurogenic form of this disorder, considered to be a type of spinal muscular atrophy (FSHSMA). The two families have 36 ... Full text Link to item Cite

Linkage analysis in familial amyotrophic lateral sclerosis.

Journal Article Neurology · July 1989 Featured Publication Familial amyotrophic lateral sclerosis (FALS) constitutes 5 to 10% of cases of ALS and, in most families, its inheritance is consistent with an autosomal dominant trait with age-dependent penetrance. The biochemical abnormality underlying the disorder is u ... Full text Link to item Cite

Absence of linkage of ABO blood group locus to familial tuberous sclerosis.

Journal Article Exp Neurol · June 1989 Featured Publication A mutation leading to tuberous sclerosis was linked to the ABO blood group locus (9q34) on the long arm of chromosome 9. In an effort to confirm this assignment, nine multigenerational families with tuberous sclerosis, comprising 126 sampled individuals, w ... Full text Link to item Cite

Duchenne muscular dystrophy: detection of deletion carriers by spectrophotometric densitometry.

Journal Article Clin Genet · June 1989 Featured Publication DNA isolated from a family segregating a deletion in the Duchenne muscular dystrophy gene and control families was digested with restriction enzymes, Southern transferred, and probed with a radioactive dystrophin cDNA probe. The resulting autoradiographs w ... Full text Link to item Cite

Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17.

Journal Article Exp Neurol · May 1989 Featured Publication Charcot-Marie-Tooth disease Type 1 (CMT) is an inherited neuropathy with known genetic heterogeneity, with at least one autosomal dominant form (CMT Type 1b) linked to the Duffy region of chromosome 1. Autosomal dominant families not demonstrating linkage ... Full text Link to item Cite

Inherited deletion at Duchenne dystrophy locus in normal male.

Other Lancet · March 4, 1989 Featured Publication Full text Link to item Cite

Mapping strategies for multiple linked markers.

Journal Article Prog Clin Biol Res · 1989 Featured Publication Link to item Cite

Flanking markers for the gene causing von Recklinghausen neurofibromatosis (NF1).

Journal Article Am J Hum Genet · January 1989 Featured Publication The defective gene causing von Recklinghausen neurofibromatosis (NF1), one of the most common inherited disorders affecting the human nervous system, was recently mapped to chromosome 17. We have used additional DNA markers to further narrow and bracket th ... Link to item Cite

Report of the committee on the genetic constitution of chromosomes 18 and 19.

Journal Article Cytogenet Cell Genet · 1989 Featured Publication Full text Link to item Cite

A refined genetic map of the region of chromosome 17 surrounding the von Recklinghausen neurofibromatosis (NF1) gene.

Journal Article Am J Hum Genet · January 1989 Featured Publication The von Recklinghausen neurofibromatosis (NF1) gene has been mapped to the pericentromeric region of chromosome 17. We conducted linkage analyses of NF1 by using 10 polymorphic DNA markers from this chromosomal region. We ascertained 20 American Caucasian ... Link to item Cite

Genetic linkage mapping of chromosome 17 markers and neurofibromatosis type I.

Journal Article Am J Hum Genet · January 1989 Featured Publication The von Recklinghausen neurofibromatosis (NF1) gene has been localized to the pericentromeric region of chromosome 17. We have screened six multigenerational families with multiple, tightly linked markers to aid in mapping this region of the chromosome. Mo ... Link to item Cite

Sib-pair linkage analysis in late onset Alzheimer's disease.

Journal Article Prog Clin Biol Res · 1989 Featured Publication Link to item Cite

Linkage studies in familial Alzheimer's disease.

Journal Article Prog Clin Biol Res · 1989 Featured Publication Link to item Cite

Genetic linkage studies in Alzheimer's disease families.

Journal Article Exp Neurol · December 1988 Featured Publication Alzheimer's disease is a devastating neurological disorder and the leading cause of dementia among the elderly. Recent studies have localized the gene for familial Alzheimer's disease to chromosome 21 in a series of early onset AD families (mean age of ons ... Full text Link to item Cite

A Bgl II polymorphism detected by LDR152 [D19S19].

Journal Article Nucleic Acids Res · September 26, 1988 Featured Publication Full text Link to item Cite

Prenatal diagnosis using deletion studies in Duchenne muscular dystrophy.

Journal Article Prenat Diagn · July 1988 Featured Publication Accurate carrier testing and prenatal diagnosis in Duchenne muscular dystrophy (DMD) families is facilitated when an Xp21 deletion is found to be segregating within a family. We discuss the results of the DNA testing in two families, one in which DNA from ... Full text Link to item Cite

Report of the committee on the genetic constitution of chromosomes 18 and 19.

Journal Article Cytogenet Cell Genet · 1988 Featured Publication Full text Link to item Cite

Systematic gene mapping in man: data management considerations.

Journal Article Aust Paediatr J · 1988 Featured Publication The application of recombinant DNA technology to linkage analysis is revolutionizing the gene mapping field through the availability of an increasing number of restriction fragment length polymorphisms (RFLP). The successful mapping of the human genome wil ... Link to item Cite

Duchenne muscular dystrophy: high frequency of deletions.

Journal Article Neurology · January 1988 Featured Publication DNA probes are available for Duchenne muscular dystrophy (DMD) carrier detection and prenatal diagnosis. With probes for about 25% of the proximal portion of the gene, we found the proximal probes detected deletions in 23% of nonselected DMD boys, while a ... Full text Link to item Cite

Update on the molecular genetics of Duchenne muscular dystrophy.

Journal Article Aust Paediatr J · 1988 Featured Publication Three separate lines of evidence led to the assignment of the Duchenne muscular dystrophy (DMD) gene to the 21.2 band on the short arm of the X chromosome. A portion of the putative gene, thought to extend over 1-2 million base pairs has been recently clon ... Link to item Cite

Clinical and genetic investigation in autosomal dominant limb-girdle muscular dystrophy.

Journal Article Neurology · January 1988 Featured Publication Limb-girdle muscular dystrophy is a syndrome of progressive myopathic weakness affecting shoulder and hip girdle and proximal arm and leg muscles. The disease occurs either sporadically or inherited as an autosomal recessive trait. Autosomal dominant inher ... Full text Link to item Cite

Myotonic dystrophy: update on progress to define the gene.

Journal Article Aust Paediatr J · 1988 Featured Publication Using standard likelihood linkage techniques, the gene for dystrophia myotonica has been localized to the proximal long arm of chromosome 19. Several large families provided the substrate for detecting linkage of restriction fragment length polymorphisms w ... Link to item Cite

Linkage analysis in von Recklinghausen neurofibromatosis (NF1) with DNA markers for chromosome 17.

Journal Article Genomics · December 1987 Featured Publication The mutant gene causing von Recklinghausen neurofibromatosis (NF1) was recently shown to map to chromosome 17. We have used additional markers for chromosome 17 to narrow further the location of the gene defect. A preliminary multipoint linkage analysis su ... Full text Link to item Cite

Genetic linkage studies of chromosome 17 RFLPs in von Recklinghausen neurofibromatosis (NF1).

Journal Article Genomics · December 1987 Featured Publication Recent localization of the gene for von Recklinghausen neurofibromatosis (NF1) to chromosome 17 has led to studies to identify additional tightly linked probes that can be used in defining the primary genetic defect in NF1. We have examined and obtained bl ... Full text Link to item Cite

Inherited deletion at Duchenne dystrophy locus in normal male.

Other Lancet · November 14, 1987 Featured Publication Full text Link to item Cite

Chorea-acanthocytosis: a report of three new families and implications for genetic counselling.

Journal Article Am J Med Genet · October 1987 Featured Publication Chorea-acanthocytosis (CHA) is a rare inherited neurologic disorder with peripheral red cell acanthocytes and normal serum lipoprotein levels. To date, 8 families with the disorder have been reported outside of Japan. We describe 4 patients in 3 families w ... Full text Link to item Cite

Linkage studies in peripheral neurofibromatosis.

Journal Article J Med Genet · September 1987 Featured Publication Peripheral neurofibromatosis (NF) is one of the most common major genetic disorders in man. Its chromosomal location is unknown and questions regarding such factors as genetic heterogeneity remain unanswered. We have ascertained and sampled several large m ... Full text Link to item Cite

Linkage analysis of peripheral neurofibromatosis to DNA markers on chromosome 8.

Journal Article J Med Genet · September 1987 Featured Publication Linkage relationships of the gene for peripheral neurofibromatosis (NF) were assessed in a large American Caucasian pedigree using two DNA markers located on chromosome 8. Linkage to the thyroglobulin locus, located at 8q24, was excluded (lod less than or ... Full text Link to item Cite

Hereditary motor and sensory neuropathy, X-linked: a half century follow-up.

Journal Article Neurology · September 1987 Featured Publication The existence of an X-linked sensorimotor peripheral neuropathy has been debated. We reevaluated the original family, and present data on 13 affected males and 25 obligate or probable heterozygous females, documenting the devastating nature of the disease ... Full text Link to item Cite

Familial inheritance of a DXS164 deletion mutation from a heterozygous female.

Journal Article Am J Hum Genet · August 1987 Featured Publication Restriction-fragment-length-polymorphism analysis was used to examine a female who is segregating for Duchenne muscular dystrophy (DMD) and a deletion of the DXS164 region of the X chromosome. The segregating female has no prior family history of DMD, and ... Link to item Cite

Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene.

Journal Article Cell · June 5, 1987 Featured Publication von Recklinghausen neurofibromatosis (VRNF) is one of the most common inherited disorders affecting the human nervous system. VRNF is transmitted as an autosomal dominant defect with high penetrance but variable expressivity. The disorder is characterized ... Full text Link to item Cite

Genetic epidemiology of the susceptibility to leprosy.

Journal Article J Clin Invest · April 1987 Featured Publication To test the hypothesis that genetic factors are operative in the predisposition to leprosy (Hansen's disease) in humans, a genetic epidemiologic investigation was performed on 269 leprosy kindreds containing 552 affected individuals from an isolated popula ... Full text Link to item Cite

A new probe for the diagnosis of myotonic muscular dystrophy.

Journal Article Science · March 27, 1987 Featured Publication Myotonic muscular dystrophy (DM) is the most common muscular dystrophy, affecting adults as well as children. It is inherited as an autosomal dominant trait and is characterized by variable expressivity and late age-of-onset. Linkage studies have establish ... Full text Link to item Cite

Prenatal detection of an inherited Duchenne muscular dystrophy deletion allele.

Journal Article Neurology · February 1987 Featured Publication Full text Link to item Cite

Tight linkage of apolipoprotein C2 to myotonic dystrophy on chromosome 19.

Journal Article Neurology · November 1986 Featured Publication The cDNA and genomic probes for apolipoprotein C2 detect two restriction fragment length polymorphisms on chromosome 19. The combined estimated percentage of heterozygosity, assuming equilibrium, is approximately 75%, ie, apolipoprotein C2 is informative i ... Full text Link to item Cite

X-linked neuropathy: gene localization with DNA probes.

Journal Article Ann Neurol · October 1986 Featured Publication We used probes for DNA polymorphisms on the X chromosome to study genetic linkage in four families with X-linked neuropathy. Despite clinical variability, all four families showed the same linkage pattern. We found evidence in each family of linkage to the ... Full text Link to item Cite

A new tightly linked DNA probe for myotonic dystrophy.

Journal Article Neurology · August 1986 Featured Publication Full text Link to item Cite

RFLPs at the D19S19 locus of human chromosome 19 linked to myotonic dystrophy (DM).

Journal Article Nucleic Acids Res · July 11, 1986 Featured Publication Full text Link to item Cite

Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy.

Journal Article Nature · July 3, 1986 Duchenne muscular dystrophy (DMD) is an X-linked recessive genetic disorder for which the biochemical defect is as yet unknown. Recently, two cloned segments of human X-chromosome DNA have been described which detect structural alterations within or near t ... Full text Link to item Cite

Promiscuous expression of myosin in myotonic dystrophy.

Journal Article Muscle Nerve · May 1986 Featured Publication The pathologic changes in myotonic dystrophy (DM) skeletal muscle biopsies have been analyzed at both the histochemical and molecular level. A histochemical stain for pretyping single fibers in conjunction with sodium dodecyl sulphate-polyacrylamide gel el ... Full text Link to item Cite

Genetic analysis workshop IV: Huntington disease linkage analysis summary.

Journal Article Genet Epidemiol Suppl · 1986 Featured Publication Full text Link to item Cite

Genetic analysis workshop IV: Huntington disease linkage analysis, data description.

Journal Article Genet Epidemiol Suppl · 1986 Featured Publication Link to item Cite

The ischemic exercise test in normal adults and in patients with weakness and cramps.

Journal Article Muscle Nerve · 1986 Featured Publication Data from 23 normal men and women were used to derive 95% confidence limits for maximum changes in ammonia and lactate values following ischemic forearm exercise. Most normal subjects raised serum lactate and ammonia concentrations more than 20 mg/dl and 1 ... Full text Link to item Cite

Analysis of Huntington disease linkage and age-of-onset distributions.

Journal Article Genet Epidemiol Suppl · 1986 Featured Publication Full text Link to item Cite

Localization of cloned unique DNA to three different regions of chromosome 19: screen for linkage probes for myotonic dystrophy.

Journal Article J Neurogenet · December 1985 Featured Publication Screening polymorphic DNA probes for linkage to myotonic dystrophy (DM) and to other reported chromosome 19 (CH19) genes will develop a linkage map for human CH19. We report here the assignment of 3 cloned unique DNA sequences to 3 distinct regions of CH19 ... Full text Link to item Cite

Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment.

Journal Article Nature · August 29, 1985 Featured Publication The Duchenne muscular dystrophy (DMD) locus has been localized to the short arm of the human X chromosome (Xp21) by detection of structural abnormalities and by genetic linkage studies. A library highly enriched for human DNA from Xp21 was constructed usin ... Full text Link to item Cite

Segregation and linkage analysis of alpha-N-acetyl-D-glucosaminidase (NAG) levels in a black family.

Journal Article Am J Med Genet · February 1985 Featured Publication Alpha-N-acetyl-D-glucosaminidase (NAG) activities were evaluated on serum samples from 67 persons in a large black family. These data were analyzed in conjunction with those from 126 previously tested unrelated blacks [Vance et al, 1980]. After loge transf ... Full text Link to item Cite

Recombinant DNA strategies in genetic neurological diseases.

Journal Article Muscle Nerve · June 1983 Featured Publication The application of recombinant DNA techniques applied to the study of genetic neurological diseases will play a major role in the practice of neurology in upcoming years. Strategies are now available to develop useful and relatively simple biochemical diag ... Full text Link to item Cite

Effect of sera from myasthenia gravis patients on acetylcholine receptors in myotube cultures.

Journal Article J Neurol Sci · April 1983 Featured Publication Full text Link to item Cite

Age-of-onset heterogeneity in Huntington disease families.

Journal Article Am J Med Genet · January 1983 Featured Publication Ten Huntington disease (HD) families are analyzed using maximum likelihood methods to study age-of-onset (AO) heterogeneity. Both age of onset and age at examination are used in calculating an individual's likelihood of being affected; familial correlation ... Full text Link to item Cite

Carrier detection in Sanfilippo syndrome type B: report of six families.

Journal Article Clin Genet · August 1981 Featured Publication Serum samples from 175 individuals in six Sanfilippo syndrome type B (SFB) families and 360 White controls were assayed for serum alpha-N-acetyl-D-glucosaminidase (NAG) activity. Only minimal overlap was observed between the controls' NAG activity distribu ... Full text Link to item Cite

Evidence of genetic variation for alpha-N-acetyl-D-glucosaminidase in black and white populations: a new polymorphism.

Journal Article Am J Med Genet · 1980 Featured Publication Serum and/or plasma samples from 360 Whites and 126 Blacks were assayed for activity of the lysosomal hydrolase alpha-N-acetyl-D-glucosaminidase (NAG). The samples from the Blacks had an increased mean (0.50 nm/ml/min) and standard deviation (0.30 nm/ml/mi ... Full text Link to item Cite

Genetic linkage studies in Huntington disease.

Journal Article Cytogenet Cell Genet · 1978 Featured Publication Full text Link to item Cite