C. Sewry

Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study

Maria Kinali, Virginia Arechavala‐Gomeza, Lucy Feng et al. · The Lancet Neurology · 2009 · 635 citations · Full text

Consensus Statement on Standard of Care for Congenital Myopathies

Ching H. Wang, James J. Dowling, Kathryn N. North et al. · Journal of Child Neurology · 2012 · 182 citations · Full text

Neuromusculoskeletal Disorder, Rare Diseases, Pediatric Orthopedic Surgery +11

Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy

Joachim Schessl, Yaqun Zou, Meagan J. McGrath et al. · Journal of Clinical Investigation · 2008 · 154 citations · Full text

Muscle histology vs MRI in Duchenne muscular dystrophy

Maria Kinali, Virginia Arechavala‐Gomeza, Sebahattin Çirak et al. · Neurology · 2011 · 152 citations · Full text

Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period

Maria Sframeli, Anna Sárközy, Marta Bértoli et al. · Neuromuscular Disorders · 2017 · 124 citations

Rare Diseases, Mendelian Disorder, Genetic Disorder +8