S. Lillis

Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis

Nomazulu Dlamini, Nicol C. Voermans, S. Lillis et al. · Neuromuscular Disorders · 2013 · 195 citations

Neuromusculoskeletal Disorder, Mendelian Disorder, Genetics +6

Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies

S. Robb, Caroline A. Sewry, James J. Dowling et al. · Neuromuscular Disorders · 2011 · 110 citations

Mitochondrial Myopathy, Neuromusculoskeletal Disorder, Neuromuscular Junction +13

A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene

Sissel Løseth, Nicol C. Voermans, T. Torbergsen et al. · Journal of Neurology · 2013 · 93 citations

Mitochondrial Myopathy, Muscle Function, Skeletal Muscle +8

Interfamilial phenotypic heterogeneity in SMARD1

Sumy Joseph, S. Robb, Shehla Mohammed et al. · Neuromuscular Disorders · 2009 · 52 citations

Biology, Allelic Variant, Interfamilial Phenotypic Heterogeneity +6

Nemaline myopathy with stiffness and hypertonia associated with an <i>ACTA1</i> mutation

Rajesh K. Jain, Sandeep Jayawant, Waney Squier et al. · Neurology · 2012 · 45 citations

Muscle Function, Pathology, Anatomy +19