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Neuromuscular Disorders : NMD|March 1, 2003
Spontaneous muscular dystrophy caused by a retrotransposal insertion in the mouse laminin alpha2 chain geneSylvie Besse, Valérie Allamand, Jean-Thomas Vilquin, et al.
American Journal of Human Genetics|May 7, 2002
Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophyErcan Demir, Patrizia Sabatelli, Valérie Allamand, et al.
The Journal of Biological Chemistry|November 1, 2002
Gamma 1 subunit interactions within the skeletal muscle L-type voltage-gated calcium channelsJyothi Arikkath, Chien-Chang Chen, Christopher Ahern, et al.
Iranian Journal of Child Neurology|March 26, 2014
Ullrich Congenital Muscular Dystrophy (UCMD): Clinical and Genetic CorrelationsBita Bozorgmehr, Ariana Kariminejad, Shahriar Nafissi, et al.
The American Journal of Pathology|January 6, 2017
HANAC Col4a1 Mutation in Mice Leads to Skeletal Muscle Alterations due to a Primary Vascular DefectSimon Guiraud, Tiffany Migeon, Arnaud Ferry, et al.
The Journal of Biological Chemistry|July 10, 2008
Cib2 binds integrin alpha7Bbeta1D and is reduced in laminin alpha2 chain-deficient muscular dystrophyMattias Häger, Maria Giulia Bigotti, Renata Meszaros, et al.
Human Molecular Genetics|September 13, 2015
Two novel COLVI long chains in zebrafish that are essential for muscle developmentLaetitia Ramanoudjame, Claire Rocancourt, Jeanne Lainé, et al.
Human Mutation|December 11, 2008
A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathyBaijayanta Maiti, Sandrine Arbogast, Valérie Allamand, et al.
EMBO Reports|February 25, 2006
A single homozygous point mutation in a 3'untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathyValérie Allamand, Pascale Richard, Alain Lescure, et al.
Clinical Case Reports|September 6, 2021
A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers-Danlos syndrome that proved to be a COL1-related overlap disorderMalika Foy, Philippe De Mazancourt, Corinne Métay, et al.
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