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Human Molecular Genetics|September 11, 2003
Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycanCheryl Longman, Martin Brockington, Silvia Torelli, et al.
Neuromuscular Disorders : NMD|May 20, 2018
High urinary ferritin reflects myoglobin iron evacuation in DMD patientsJérémy Rouillon, Thibaud Lefebvre, Jérôme Denard, et al.
Journal of Neurology|March 25, 2020
Normalized grip strength is a sensitive outcome measure through all stages of Duchenne muscular dystrophyJean-Yves Hogrel, Valérie Decostre, Isabelle Ledoux, et al.
Plos One|February 19, 2013
Distinctive serum miRNA profile in mouse models of striated muscular pathologiesNicolas Vignier, Fatima Amor, Paul Fogel, et al.
Human Molecular Genetics|November 20, 2010
Enhanced excitation-coupled Ca(2+) entry induces nuclear translocation of NFAT and contributes to IL-6 release from myotubes from patients with central core diseaseSusan Treves, Mirko Vukcevic, Pierre-Yves Jeannet, et al.
Human Molecular Genetics|July 6, 2016
Antisense pre-treatment increases gene therapy efficacy in dystrophic musclesCécile Peccate, Amédée Mollard, Maëva Le Hir, 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.
Molecular Therapy. Nucleic Acids|July 4, 2013
Repair of Mybpc3 mRNA by 5'-trans-splicing in a Mouse Model of Hypertrophic CardiomyopathyGiulia Mearini, Doreen Stimpel, Elisabeth Krämer, et al.
Lancet (London, England)|April 25, 2015
Efficacy of idebenone on respiratory function in patients with Duchenne muscular dystrophy not using glucocorticoids (DELOS): a double-blind randomised placebo-controlled phase 3 trialGunnar M Buyse, Thomas Voit, Ulrike Schara, et al.
Neuromuscular Disorders : NMD|December 11, 2013
Pharmacokinetics and safety of single doses of drisapersen in non-ambulant subjects with Duchenne muscular dystrophy: results of a double-blind randomized clinical trialKevin M Flanigan, Thomas Voit, Xiomara Q Rosales, et al.
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