TREAT-NMD workshop: Pattern recognition in genetic muscle diseases using muscle MRI

Ultrasound imaging in the diagnosis of muscle disease

J Z Heckmatt, S. Leeman, Victor Dubowitz · The Journal of Pediatrics · 1982 · 454 citations

Medicine, Radiology, Diagnostic Imaging +11

Recessive Mutations in the Putative Calcium-Activated Chloride Channel Anoctamin 5 Cause Proximal LGMD2L and Distal MMD3 Muscular Dystrophies

Véronique Bolduc, Gareth Marlow, Kym M. Boycott et al. · The American Journal of Human Genetics · 2010 · 282 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Distinct muscle imaging patterns in myofibrillar myopathies

Dirk Fischer, Rudolf A. Kley, Katharina Strach et al. · Neurology · 2008 · 261 citations · Full text

Medicine, Radiology, Diagnostic Imaging +12

A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy

Debbie Hicks, Anna Sárközy, Nuria Muelas et al. · Brain · 2010 · 225 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy

Eugenio Mercuri, Anne Lampe, Joanna Allsop et al. · Neuromuscular Disorders · 2005 · 184 citations

Medicine, Neurology, Radiology +13