Whole body muscle MRI protocol: Pattern recognition in early onset NM disorders

De novo <i>LMNA</i> mutations cause a new form of congenital muscular dystrophy

Susana Quijano‐Roy, Blaise Mbieleu, Carsten G. Bönnemann et al. · Annals of Neurology · 2008 · 282 citations

Medicine, Genetics, Neurology +12

Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1)

Eugenio Mercuri, Beril Talim, Behzad Moghadaszadeh et al. · Neuromuscular Disorders · 2002 · 215 citations

Medicine, Genetics, Molecular Genetics +10

Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures

Eugenio Mercuri, Kate Bushby, Enzo Ricci et al. · Neuromuscular Disorders · 2004 · 164 citations

Medicine, Radiology, Diagnostic Imaging +11

Mutations in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss

Matthias Baumann, Cecilia Giunta, Birgit Krabichler et al. · The American Journal of Human Genetics · 2012 · 159 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

Whole-body muscle MRI in 20 patients suffering from late onset Pompe disease: Involvement patterns

Robert‐Yves Carlier, Pascal Laforêt, Claire Wary et al. · Neuromuscular Disorders · 2011 · 158 citations

Medicine, Neurology, Radiology +10