L. Feng

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

C. Godfrey, Emma Clement, R. Mein et al. · Brain · 2007 · 433 citations · Full text

Autosomal recessive inheritance of <i>RYR1</i> mutations in a congenital myopathy with cores

Heinz Jungbluth, C. R. Müller, B. Halliger–Keller et al. · Neurology · 2002 · 163 citations

Muscle histology vs MRI in Duchenne muscular dystrophy

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

Congenital myopathies – Clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom

Lorenzo Maggi, Mariacristina Scoto, Sebahattin Çirak et al. · Neuromuscular Disorders · 2013 · 145 citations

Developmental Anomaly, Family Medicine, Mendelian Disorder +7

Skeletal muscle pathology in autosomal dominant Emery‐Dreifuss muscular dystrophy with lamin A/C mutations

Caroline A. Sewry, S. Brown, Eugenio Mercuri et al. · Neuropathology and Applied Neurobiology · 2001 · 126 citations