Ermal Aliu

Journal Article J Allergy Clin Immunol · May 2025 BACKGROUND: The Clinical Genome Resource (ClinGen) is an international collaborative effort among scientists and clinicians, diagnostic and research laboratories, and the patient community. Using a standardized framework, ClinGen has established guidelines ... Full text Link to item Cite

Arterial Tortuosity Syndrome: Keys to Early Diagnosis and Report of a New Mutation.

Journal Article CASE (Phila) · January 2025 • ATS can be discovered by high-quality fetal imaging. • Postnatal genetic testing is required for confirmation of the diagnosis. • A homozygous variant in SLC2A10 (c.173 C > T; p.Ala58Val) is newly described. • Multidisciplinary follow-up for children wit ... Full text Link to item Cite

Ocular manifestations in a 2 year-old patient with a DYNC1H1 mutation.

Journal Article Ophthalmic Genet · December 2023 BACKGROUND: Mutations in the DYNC1H1 gene have been linked to multiple neurologic syndromes with a multitude of clinical manifestations, both ocular and non-ocular. Previous case reports have outlined various ocular phenotypes, including cataracts of conge ... Full text Link to item Cite

Messenger RNA rescues medium-chain acyl-CoA dehydrogenase deficiency in fibroblasts from patients and a murine model.

Journal Article Hum Mol Genet · July 4, 2023 Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common inherited disorder of mitochondrial fatty acid β-oxidation (FAO) in humans. Patients exhibit clinical episodes often associated with fasting. Symptoms include hypoketotic hypoglycemia ... Full text Link to item Cite

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Journal Article Am J Hum Genet · June 1, 2023 De novo variants are a leading cause of neurodevelopmental disorders (NDDs), but because every monogenic NDD is different and usually extremely rare, it remains a major challenge to understand the complete phenotype and genotype spectrum of any morbid gene ... Full text Link to item Cite

Synthetic mRNA rescues very long-chain acyl-CoA dehydrogenase deficiency in patient fibroblasts and a murine model.

Journal Article Mol Genet Metab · January 2023 Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is an inborn error of long chain fatty acid β-oxidation (FAO) with limited treatment options. Patients present with heterogeneous clinical phenotypes affecting predominantly heart, liver, and skelet ... Full text Link to item Cite

A Novel Homozygous Variant in the CHRNE Gene in 2 Siblings with Congenital Myasthenic Syndrome.

Journal Article Child Neurol Open · 2023 Cholinergic receptor nicotinic epsilon (CHRNE) subunit mutations cause postsynaptic type of congenital myasthenic syndrome either as a primary acetylcholine-receptor deficiency or abnormal channel kinetics in the receptor. We report a novel homozygous vari ... Full text Link to item Cite

ERI1: A case report of an autosomal recessive syndrome associated with developmental delay and distal limb abnormalities.

Journal Article Am J Med Genet A · January 2023 ERI1 is an evolutionary conserved 3'-5' exonuclease with an important function in multiple RNA processing pathways. Although the molecular mechanisms in which ERI1 is involved have been studied extensively in model organisms, the pathology associated with ... Full text Link to item Cite

A Case of Congenital Hypotonia and Developmental Delay in an Individual with a De Novo Variant Outside of the Canonical HX-Motif of ATN1.

Journal Article Case Rep Genet · 2023 We present a case of a 4-year-old female with a de novo heterozygous variant in the ATN1 gene. The whole exome sequencing was performed on the patient and her parents, and a likely pathogenic, de novo variant was identified in exon 5 of the ATN1 gene. Ther ... Full text Link to item Cite

Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.

Journal Article JAMA Neurol · December 1, 2022 IMPORTANCE: It is currently unknown how often and in which ways a genetic diagnosis given to a patient with epilepsy is associated with clinical management and outcomes. OBJECTIVE: To evaluate how genetic diagnoses in patients with epilepsy are associated ... Full text Link to item Cite

Case report of atypical Leigh syndrome in an adolescent male with novel biallelic variants in NDUFAF5 and review of the natural history of NDUFAF5-related disorders.

Journal Article Am J Med Genet A · March 2022 NDUFAF5 encodes a Complex I assembly factor which is critical to the modification of a core subunit, NDUFS7, in early Complex I factor assembly. Mutations in NDUFAF5 have been previously shown to cause Complex I deficiency leading to mitochondrial respirat ... Full text Link to item Cite

A Case of Autosomal Recessive Intellectual Developmental Disorder Type 5 Presenting with Epilepsy.

Journal Article Case Rep Genet · 2022 Autosomal recessive intellectual developmental disorder type 5 (MRT5, OMIM # 611091) is caused by biallelic pathogenic variants, leading to loss of function of the NSUN2 gene which encodes a methyltransferase involved in several biological processes, rangi ... Full text Link to item Cite

Acute Necrotizing Encephalopathy: 2 Case Reports on RANBP2 Mutation.

Journal Article Child Neurol Open · 2021 Infection-induced acute encephalopathy 3 (IIAE3) is an autosomal dominant disease resulting from a pathogenic variant in the RANBP2 gene. IIAE3 results in the susceptibility to the recurrence of acute necrotizing encephalopathy (ANE1) which presents as bil ... Full text Link to item Cite

Pitt Hopkins-Like Syndrome 1 with Novel CNTNAP2 Mutation in Siblings.

Journal Article Child Neurol Open · 2021 Pitt Hopkins-like syndrome 1 (PTHLS1, OMIM # 610042) is an ultra-rare autosomal recessive condition with a prevalence of <1/1,000,000. Intragenic deletions of CNTNAP2 has been implicated in PTHLS1, however to our knowledge a compound heterozygous deletion ... Full text Link to item Cite

Amino acid disorders.

Journal Article Ann Transl Med · December 2018 Amino acids serve as key building blocks and as an energy source for cell repair, survival, regeneration and growth. Each amino acid has an amino group, a carboxylic acid, and a unique carbon structure. Human utilize 21 different amino acids; most of these ... Full text Link to item Cite

Prospective pilot study of a single daily dosage of trientine for the treatment of Wilson disease.

Journal Article Dig Dis Sci · May 2015 BACKGROUND: Wilson disease requires lifelong therapy, currently given daily in multiple divided dosages. AIM: To prospectively evaluate once-daily trientine as therapy for Wilson disease. STUDY GROUP: eight patients (seven males) aged 22-71 years with stab ... Full text Link to item Cite