Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis.
Publication
, Journal Article
Sapp, PC; Hosler, BA; McKenna-Yasek, D; Chin, W; Gann, A; Genise, H; Gorenstein, J; Huang, M; Sailer, W; Scheffler, M; Valesky, M; Haines, JL ...
Published in: Am J Hum Genet
August 2003
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 approximately 25% of familial ALS (FALS) cases. We have performed a genetic linkage screen in 16 pedigrees with FALS with no evidence for mutations in the SOD1 gene and have identified novel ALS loci on chromosomes 16 and 20. The analysis of these genes will delineate pathways implicated as determinants of motor-neuron viability and provide insights into possible therapies for ALS.
Duke Scholars
Published In
Am J Hum Genet
DOI
ISSN
0002-9297
Publication Date
August 2003
Volume
73
Issue
2
Start / End Page
397 / 403
Location
United States
Related Subject Headings
- Superoxide Dismutase-1
- Superoxide Dismutase
- Pedigree
- Middle Aged
- Male
- Lod Score
- Humans
- Haplotypes
- Genetics & Heredity
- Genes, Dominant
Citation
APA
Chicago
ICMJE
MLA
NLM
Sapp, P. C., Hosler, B. A., McKenna-Yasek, D., Chin, W., Gann, A., Genise, H., … Brown, R. H. (2003). Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis. Am J Hum Genet, 73(2), 397–403. https://doi.org/10.1086/377158
Sapp, Peter C., Betsy A. Hosler, Diane McKenna-Yasek, Wendy Chin, Amity Gann, Hilary Genise, Julie Gorenstein, et al. “Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis.” Am J Hum Genet 73, no. 2 (August 2003): 397–403. https://doi.org/10.1086/377158.
Sapp PC, Hosler BA, McKenna-Yasek D, Chin W, Gann A, Genise H, et al. Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis. Am J Hum Genet. 2003 Aug;73(2):397–403.
Sapp, Peter C., et al. “Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis.” Am J Hum Genet, vol. 73, no. 2, Aug. 2003, pp. 397–403. Pubmed, doi:10.1086/377158.
Sapp PC, Hosler BA, McKenna-Yasek D, Chin W, Gann A, Genise H, Gorenstein J, Huang M, Sailer W, Scheffler M, Valesky M, Haines JL, Pericak-Vance M, Siddique T, Horvitz HR, Brown RH. Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis. Am J Hum Genet. 2003 Aug;73(2):397–403.
Published In
Am J Hum Genet
DOI
ISSN
0002-9297
Publication Date
August 2003
Volume
73
Issue
2
Start / End Page
397 / 403
Location
United States
Related Subject Headings
- Superoxide Dismutase-1
- Superoxide Dismutase
- Pedigree
- Middle Aged
- Male
- Lod Score
- Humans
- Haplotypes
- Genetics & Heredity
- Genes, Dominant