L. Feng

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

C. Godfrey, Emma Clement, R. Mein et al. · Brain · 2007 · 440 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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 · 165 citations

Life Sciences, Genetics, Molecular Genetics +15

Muscle histology vs MRI in Duchenne muscular dystrophy

Maria Kinali, Virginia Arechavala‐Gomeza, Sebahattin Çirak et al. · Neurology · 2011 · 154 citations · Full text

Medicine, Neurology, Pathology +17

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 · 147 citations

Medicine, Pathology, Pediatrics +8

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

Medicine, Genetics, Pathology +17