Anna Kamińska

Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

Craig M. McDonald, Craig Campbell, Ricardo Erazo Torricelli et al. · The Lancet · 2017 · 455 citations · Full text

Medicine, Molecular Medicine, Neurology +9

Novel VCP mutations in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia

GDJ Watts, Dana Thomasová, SK Ramdeen et al. · Clinical Genetics · 2007 · 134 citations · Full text

Medicine, Genetics, Neurology +17

Characterizing absolute lymphocyte count profiles in dimethyl fumarate–treated patients with MS

Robert J. Fox, Andrew Chan, Ralf Gold et al. · Neurology Clinical Practice · 2016 · 104 citations · Full text

Life Sciences, Immunology, Pharmacology +14

European Cross-Sectional Survey of Current Care Practices for Duchenne Muscular Dystrophy Reveals Regional and Age-Dependent Differences

Julia Vry, K. Gramsch, Sunil Rodger et al. · Journal of Neuromuscular Diseases · 2016 · 98 citations · Full text

Medicine, Rehabilitation Medicine, Good Clinical Practice +16

In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy

Montse Olivé, Zagaa Odgerel, Christine Stadelmann et al. · European Journal of Human Genetics · 2008 · 83 citations · Full text

Medicine, Genetics, Molecular Genetics +14