Ulrike Schara

224th ENMC International Workshop:

Yves Allenbach, Andrew L. Mammen, Olivier Benvéniste et al. · Neuromuscular Disorders · 2017 · 554 citations · Full text

Computing, Mechanical Engineering, Global Navigation Satellite Systems +1

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

Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies

Robert W. Taylor, Angela Pyle, Helen Griffin et al. · JAMA · 2014 · 365 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Consensus Statement on Standard of Care for Congenital Muscular Dystrophies

Ching H. Wang, Carsten G. Bönnemann, A. Rutkowski et al. · Journal of Child Neurology · 2010 · 215 citations · Full text

Medicine, Neurology, Neuromuscular Disorders +9

One Year of Newborn Screening for SMA – Results of a German Pilot Project

Katharina Vill, Heike Kölbel, Oliver Schwartz et al. · Journal of Neuromuscular Diseases · 2019 · 189 citations · Full text

Medicine, Neurology, Pediatrics +17