Amy Harper

Anti-HMGCR myopathy may resemble limb-girdle muscular dystrophy

Payam Mohassel, Océane Landon‐Cardinal, A. Reghan Foley et al. · Neurology Neuroimmunology & Neuroinflammation · 2018 · 117 citations · Full text

Safety and efficacy of givinostat in boys with Duchenne muscular dystrophy (EPIDYS): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

Eugenio Mercuri, Juan J. Vílchez, Odile Boespflug‐Tanguy et al. · The Lancet Neurology · 2024 · 100 citations

Duchenne Muscular Dystrophy, Clinical Trials, Pharmacotherapy +2

<i>KIF5A</i> mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction

Jessica Duis, Shannon L. Dean, Carolyn Applegate et al. · Annals of Neurology · 2016 · 61 citations · Full text

Neurogenomics, Brain Development, Mitochondrial Dysfunction +22

Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy

Utkarsh J. Dang, Jesse M. Damsker, Michela Guglieri et al. · Neurology · 2024 · 54 citations · Full text

Response to immunotherapy in a patient with Landau‐Kleffner syndrome and <i>GRIN2A</i> mutation

Nina Fainberg, Amy Harper, Dmitry Tchapyjnikov et al. · Epileptic Disorders · 2016 · 52 citations