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Human Mutation|October 30, 2010
From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypesHaifa Hichri, John Rendu, Nicole Monnier, et al.
European Journal of Medical Genetics|October 5, 2010
De novo RYR1 heterozygous mutation (I4898T) causing lethal core-rod myopathy in twinsAurelio Hernandez-Lain, Isabelle Husson, Nicole Monnier, et al.
Neurology|April 5, 2013
Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrumDiana Xerxes Bharucha-Goebel, Mariarita Santi, Livija Medne, et al.
Neuromuscular Disorders : NMD|March 13, 2013
A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathiesNigel F Clarke, Kimberly Amburgey, James Teener, et al.
Neuromuscular Disorders : NMD|September 18, 2012
Whole-Body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutationsMohamed Jarraya, Susana Quijano-Roy, Nicole Monnier, et al.
Annals of Neurology|July 12, 2002
A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 geneAna Ferreiro, Nicole Monnier, Norma B Romero, et al.
Journal of Neuromuscular Diseases|November 19, 2016
Functional Characterization of a Central Core Disease RyR1 Mutation (p.Y4864H) Associated with Quantitative Defect in RyR1 ProteinMarine Cacheux, Ariane Blum, Muriel Sébastien, et al.
Human Gene Therapy|June 29, 2013
Exon skipping as a therapeutic strategy applied to an RYR1 mutation with pseudo-exon inclusion causing a severe core myopathyJohn Rendu, Julie Brocard, Eric Denarier, et al.
Human Mutation|June 30, 2009
Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1)Nigel G Laing, Danielle E Dye, Carina Wallgren-Pettersson, et al.
Neuromuscular Disorders : NMD|September 8, 2004
The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centreSylvie Tuffery-Giraud, Céline Saquet, Sylvie Chambert, et al.
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