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, +70

The Lancet

Rare DiseasesUrologyClinical TrialsDegenerative DiseaseRehabilitation +3

Risdiplam in Type 1 Spinal Muscular Atrophy

Giovanni Baranello, Basil T. Darras, John Day, +14

New England Journal of Medicine

Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls

Basil T. Darras, Riccardo Masson, Maria Mazurkiewicz-Bełdzińska, +15

New England Journal of Medicine

Normative reference values for strength and flexibility of 1,000 children and adults

Marnee J. McKay, Jennifer Baldwin, Paulo H. Ferreira, +27

Neurology

Consensus Statement on Standard of Care for Congenital Myopathies

Ching H. Wang, James J. Dowling, Kathryn N. North, +31

Journal of Child Neurology

Neuromusculoskeletal DisorderRare DiseasesPediatric Orthopedic SurgeryMendelian DisorderCare Committee +9

Reference values for developing responsive functional outcome measures across the lifespan

Marnee J. McKay, Jennifer Baldwin, Paulo H. Ferreira, +27

Neurology

Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial

Riccardo Masson, Maria Mazurkiewicz-Bełdzińska, Kristy Rose, +166

The Lancet Neurology

Type 1Firefish Part 2RehabilitationNeurologySpinal Muscular Atrophy +4

Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy

Elizabeth M. Gibbs, Nigel F. Clarke, Kristy Rose, +4

Journal of Molecular Medicine

Mitochondrial MyopathyNeuromuscular Junction AbnormalitiesNeuromuscular JunctionSkeletal MuscleMedicine +5

1000 Norms Project: protocol of a cross-sectional study cataloging human variation

Marnee J. McKay, Jennifer Baldwin, Paulo H. Ferreira, +19

Physiotherapy

Human PhenotypesHuman VariationData SetDataset CreationBiostatistics +8

Evaluator Training and Reliability for SMA Global Nusinersen Trials

Allan M. Glanzman, Elena Mazzone, Sally Dunaway Young, +16

Journal of Neuromuscular Diseases