Rigid spine syndrome revealing late-onset Pompe disease

Recombinant human acid α-glucosidase

Priya S. Kishnani, Deya Corzo, Marc Nicolino et al. · Neurology · 2006 · 772 citations · Full text

Life Sciences, Pharmacology, Pharmacotherapy +10

Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene

Gisèle Bonne, Eugenio Mercuri, Antoine Muchir et al. · Annals of Neurology · 2000 · 491 citations

Medicine, Genetics, Molecular Genetics +14

Mutations of the Selenoprotein N Gene, Which Is Implicated in Rigid Spine Muscular Dystrophy, Cause the Classical Phenotype of Multiminicore Disease: Reassessing the Nosology of Early-Onset Myopathies

Ana Ferreiro, Susana Quijano-Roy, Claire Pichereau et al. · The American Journal of Human Genetics · 2002 · 363 citations · Full text

Medicine, Genetics, Molecular Genetics +13

Mutation in <i>BAG3</i> causes severe dominant childhood muscular dystrophy

Duygu Selcen, Francesco Muntoni, Barbara K. Burton et al. · Annals of Neurology · 2008 · 362 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Late onset Pompe disease: Clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients

Wolfgang Müller‐Felber, Rita Horváth, Klaus Gempel et al. · Neuromuscular Disorders · 2007 · 239 citations

Life Sciences, Neurology, Neuroscience +4