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 · 188 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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 · 184 citations · Full text

Veterinary Medicine, Internal Medicine, Pharmacotherapy +3

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

Amel Karaa, Richard Haas, Amy Goldstein et al. · Neurology · 2018 · 148 citations · Full text

Medicine, Pharmacology, Pharmacotherapy +15

Diagnostic odyssey of patients with mitochondrial disease

Johnston Grier, Michio Hirano, Amel Karaa et al. · Neurology Genetics · 2018 · 122 citations · Full text

Life Sciences, Genetics, Neurology +14

Pain in Fabry Disease: Practical Recommendations for Diagnosis and Treatment

Juan Politei, Didier Bouhassira, Dominique P. Germain et al. · CNS Neuroscience & Therapeutics · 2016 · 119 citations · Full text

Medicine, Neurology, Pathology +17