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Skeletal Muscle|December 15, 2015
CD49d is a disease progression biomarker and a potential target for immunotherapy in Duchenne muscular dystrophyFernanda Pinto-Mariz, Luciana Rodrigues Carvalho, Alexandra Prufer De Queiroz Campos Araujo, et al.
Plos One|February 3, 2015
Upper limb strength and function changes during a one-year follow-up in non-ambulant patients with Duchenne Muscular Dystrophy: an observational multicenter trialAndreea Mihaela Seferian, Amélie Moraux, Mélanie Annoussamy, et al.
Nature Genetics|November 12, 2005
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathyJan Senderek, Michael Krieger, Claudia Stendel, et al.
American Journal of Human Genetics|February 14, 2017
Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and DystroglycanopathyDaniel P S Osborn, Heather L Pond, Neda Mazaheri, et al.
Neurogenetics|September 19, 2014
Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approachMagdalena Zimoń, Esra Battaloğlu, Yesim Parman, et al.
Nature Genetics|July 18, 2006
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locusYanick J Crow, Bruce E Hayward, Rekha Parmar, et al.
Lancet (London, England)|July 22, 2017
Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trialCraig M McDonald, Craig Campbell, Ricardo Erazo Torricelli, et al.
Nature Communications|July 26, 2017
Long-term microdystrophin gene therapy is effective in a canine model of Duchenne muscular dystrophyCaroline Le Guiner, Laurent Servais, Marie Montus, et al.
Annals of Neurology|May 14, 2020
GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency SyndromeA Reghan Foley, Yaqun Zou, James E Dunford, et al.
American Journal of Human Genetics|November 4, 2008
A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndromeAlexander G Bassuk, Robyn H Wallace, Aimee Buhr, et al.
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