B. Estournet

Mutations in the Fukutin-Related Protein Gene (FKRP) Cause a Form of Congenital Muscular Dystrophy with Secondary Laminin α2 Deficiency and Abnormal Glycosylation of α-Dystroglycan

Martin Brockington, Derek J. Blake, Paola Prandini et al. · The American Journal of Human Genetics · 2001 · 598 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Congenital muscular dystrophy with merosin deficiency.

F.M.S. Tomé, Teresinha Evangelista, A. Leclerc et al. · PubMed · 1994 · 459 citations

Medicine, Molecular Biology, Pathology +17

Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome

Behzad Moghadaszadeh, Nathalie Petit, Céline Jaillard et al. · Nature Genetics · 2001 · 365 citations

Life Sciences, Genetics, Molecular Genetics +8

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

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