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Annals of Neurology|April 1, 2003
Phenotypic spectrum associated with mutations in the fukutin-related protein geneEugenio Mercuri, Martin Brockington, Volker Straub, et al.
Neuromuscular Disorders : NMD|September 18, 2007
Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathiesHiroshi Manya, Céline Bouchet, Akiko Yanagisawa, et al.
Annals of Neurology|July 12, 2002
Mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13Louis Viollet, Annie Barois, Jean G Rebeiz, et al.
Human Mutation|February 7, 2008
Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with coresNicole Monnier, Isabelle Marty, Julien Faure, et al.
American Journal of Human Genetics|August 23, 2002
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 myopathiesAna Ferreiro, Susana Quijano-Roy, Claire Pichereau, et al.
Human Molecular Genetics|December 14, 2012
The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposisKlaus Dieterich, Susana Quijano-Roy, Nicole Monnier, et al.
Annals of Neurology|April 21, 2007
C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathyVirginie Carmignac, Mustafa A M Salih, Susana Quijano-Roy, et al.
Neuromuscular Disorders : NMD|July 30, 2014
Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caused by HRAS mutationAnamaria Bolocan, Susana Quijano-Roy, Andreea M Seferian, et al.
European Journal of Human Genetics : EJHG|April 1, 2004
Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European familiesLouis Viollet, Mohammed Zarhrate, Isabelle Maystadt, et al.
Human Molecular Genetics|July 16, 2009
Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expressionFatma Daoud, Nathalie Angeard, Bénédicte Demerre, et al.
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