Amel Karaa

Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation

Elizabeth M. McCormick, Marie T. Lott, Matthew C. Dulik et al. · Human Mutation · 2020 · 169 citations · Full text

Acmg/amp Standards, Dna, Genetics +25

Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial

Jordi Díaz‐Manera, Priya S. Kishnani, Hani Kushlaf et al. · The Lancet Neurology · 2021 · 169 citations · Full text

Late-onset Pompe Disease, Autoimmune Disease, Clinical Infectious Disease +3

Randomized dose-escalation trial of elamipretide in adults with primary mitochondrial myopathy

Amel Karaa, Richard Haas, Amy Goldstein et al. · Neurology · 2018 · 142 citations · Full text

Diagnostic odyssey of patients with mitochondrial disease

Johnston Grier, Michio Hirano, Amel Karaa et al. · Neurology Genetics · 2018 · 119 citations · Full text

A Homozygous Mutation in KCTD7 Links Neuronal Ceroid Lipofuscinosis to the Ubiquitin-Proteasome System

John F. Staropoli, Amel Karaa, Elaine T. Lim et al. · The American Journal of Human Genetics · 2012 · 113 citations · Full text

Molecular Neuroscience, Medicine, Natural Sciences +6