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Epigenomics|November 20, 2020
Novel free-circulating and extracellular vesicle-derived miRNAs dysregulated in Duchenne muscular dystrophyFrancesco Catapano, Dominic Scaglioni, Kate Maresh, 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.Science (New York, N.Y.)|March 27, 2004
G protein-coupled receptor-dependent development of human frontal cortexXianhua Piao, R Sean Hill, Adria Bodell, et al.Human Molecular Genetics|June 11, 2015
Serum proteomic profiling reveals fragments of MYOM3 as potential biomarkers for monitoring the outcome of therapeutic interventions in muscular dystrophiesJérémy Rouillon, Jérôme Poupiot, Aleksandar Zocevic, et al.Human Molecular Genetics|February 18, 2003
Worldwide distribution and broader clinical spectrum of muscle-eye-brain diseaseKiyomi Taniguchi, Kazuhiro Kobayashi, Kayoko Saito, et al.Human Genetics|April 17, 2007
Intragenic deletion in the LARGE gene causes Walker-Warburg syndromeJeroen van Reeuwijk, Prabhjit K Grewal, Mustafa A M Salih, et al.American Journal of Human Genetics|October 9, 2002
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndromeDaniel Beltrán-Valero de Bernabé, Sophie Currier, Alice Steinbrecher, et al.American Journal of Human Genetics|September 1, 2009
Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophyLucie Gueneau, Anne T Bertrand, Jean-Philippe Jais, et al.American Journal of Human Genetics|December 22, 2015
Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited DisordersDaria Wojtal, Dwi U Kemaladewi, Zeenat Malam, et al.The Lancet. Neurology|September 12, 2014
Safety and efficacy of drisapersen for the treatment of Duchenne muscular dystrophy (DEMAND II): an exploratory, randomised, placebo-controlled phase 2 studyThomas Voit, Haluk Topaloglu, Volker Straub, et al.Pageof 16