about
Proteomic identification of FHL1 as the protein mutated in human reducing body myopathyA comparative study of N-glycolylneuraminic acid (Neu5Gc) and cytotoxic T cell (CT) carbohydrate expression in normal and dystrophin-deficient dog and human skeletal muscleThe TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug developmentSelenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscleAbnormal expression of mu-crystallin in facioscapulohumeral muscular dystrophyIdentification of new dystroglycan complexes in skeletal muscleA randomized, double-blind trial of lisinopril and losartan for the treatment of cardiomyopathy in duchenne muscular dystrophy.Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.Dystrophin as a therapeutic biomarker: are we ignoring data from the past?Exome sequencing identifies a DNAJB6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophy.Rapid direct sequence analysis of the dystrophin geneLTBP4 genotype predicts age of ambulatory loss in Duchenne muscular dystrophy.A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathyThe ZZ domain of dystrophin in DMD: making sense of missense mutations.Clinical and genetic characterization of manifesting carriers of DMD mutationsTranslation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice.Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene.Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D.Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation.One year outcome of boys with Duchenne muscular dystrophy using the Bayley-III scales of infant and toddler development.A phase 1/2a follistatin gene therapy trial for becker muscular dystrophy.Localization of the giant axonal neuropathy gene to chromosome 16q24.Ataluren treatment of patients with nonsense mutation dystrophinopathy.Dystrophin quantification: Biological and translational research implications.Proof of concept of the ability of the kinect to quantify upper extremity function in dystrophinopathyOutcome reliability in non-ambulatory boys/men with Duchenne muscular dystrophy.Phase 2a study of ataluren-mediated dystrophin production in patients with nonsense mutation Duchenne muscular dystrophy.Early-progressive dilated cardiomyopathy in a family with Becker muscular dystrophy related to a novel frameshift mutation in the dystrophin gene exon 27Clinical phenotypes as predictors of the outcome of skipping around DMD exon 45.The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations.How a patient advocacy group developed the first proposed draft guidance document for industry for submission to the U.S. Food and Drug Administration.RNA interference inhibits DUX4-induced muscle toxicity in vivo: implications for a targeted FSHD therapy.Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.Dp412e: a novel human embryonic dystrophin isoform induced by BMP4 in early differentiated cells.EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.Mitochondrial fusion and function in Charcot-Marie-Tooth type 2A patient fibroblasts with mitofusin 2 mutationsMotor and cognitive assessment of infants and young boys with Duchenne Muscular Dystrophy: results from the Muscular Dystrophy Association DMD Clinical Research Network.DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6.Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1.Canine models of Duchenne muscular dystrophy and their use in therapeutic strategies.
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hulumtues
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Kevin M. Flanigan
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Kevin M. Flanigan
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Kevin M. Flanigan
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