Nicole Monnier

Malignant-Hyperthermia Susceptibility Is Associated with a Mutation of the a1-Subunit of the Human Dihydropyridine-Sensitive L-Type Voltage-Dependent Calcium-Channel Receptor in Skeletal Muscle

Nicole Monnier, Vincent Procaccio, P Stieglitz et al. · The American Journal of Human Genetics · 1997 · 416 citations · Full text

Channelopathies, Muscle Function, Molecular Physiology +7

Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase

Sylvie Tuffery‐Giraud, Christophe Béroud, France Leturcq et al. · Human Mutation · 2009 · 364 citations · Full text

Genetics, Databases, Diagnosis +26

Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human

Nathalie Roux-Buisson, Marine Cacheux, Anne Fourest‐Lieuvin et al. · Human Molecular Genetics · 2012 · 258 citations · Full text

Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France

Mireille Claustres, Caroline Guittard, Dominique Bozon et al. · Human Mutation · 2000 · 250 citations

Mutations and polymorphisms of the skeletal muscle α-actin gene (<i>ACTA1</i>)

Nigel G. Laing, Danielle E. Dye, Carina Wallgren‐Pettersson et al. · Human Mutation · 2009 · 238 citations · Full text

Muscle Function, Genetics, Adult Skeletal Muscle +18