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Utrophin-dystrophin-deficient mice as a model for Duchenne muscular dystrophyA comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severityMutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.Characterization of two isoforms of the skeletal muscle LIM protein 1, SLIM1. Localization of SLIM1 at focal adhesions and the isoform slimmer in the nucleus of myoblasts and cytoplasm of myotubes suggests distinct roles in the cytoskeleton and in nMutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycanRefining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycanFukutin gene mutations in steroid-responsive limb girdle muscular dystrophyInvestigating the pathology of Emery-Dreifuss muscular dystrophyLocalization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophyFunctional requirements for fukutin-related protein in the Golgi apparatusCalcium homeostasis in myogenic differentiation factor 1 (MyoD)-transformed, virally-transduced, skin-derived equine myotubesSub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2IAbnormalities in the expression of nebulin in chromosome-2 linked nemaline myopathy.Enhanced expression of the P2X4 receptor in Duchenne muscular dystrophy correlates with macrophage invasion.Syncoilin upregulation in muscle of patients with neuromuscular disease.Muscle development genes: their relevance in neuromuscular disorders.Defective glycosylation in muscular dystrophy.108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15 September 2002, Naarden, The Netherlands.Defective glycosylation in congenital muscular dystrophies.Transgenic Rescue of the LARGEmyd Mouse: A LARGE Therapeutic Window?Congenital muscular dystrophy: molecular and cellular aspects.Flow cytometry analysis: a quantitative method for collagen VI deficiency screeningReport on the Myomatrix Conference April 22-24, 2012, University of Nevada, Reno, Nevada, USAMuscular dystrophies due to glycosylation defects: diagnosis and therapeutic strategies.The dystrophin-glycoprotein complex in brain development and disease.Prenatal muscle development in a mouse model for the secondary dystroglycanopathiesThe transgenic expression of LARGE exacerbates the muscle phenotype of dystroglycanopathy mice.A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan.Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome.Defects in glycosylation impair satellite stem cell function and niche composition in the muscles of the dystrophic Large(myd) mouse.Profound skeletal muscle depletion of alpha-dystroglycan in Walker-Warburg syndrome.Altered primary and secondary myogenesis in the myostatin-null mouse.Absence of neuronal nitric oxide synthase (nNOS) as a pathological marker for the diagnosis of Becker muscular dystrophy with rod domain deletions.Enhanced expression of recombinant dystrophin following intramuscular injection of Epstein-Barr virus (EBV)-based mini-chromosome vectors in mdx mice.Relocalization of neuronal nitric oxide synthase (nNOS) as a marker for complete restoration of the dystrophin associated protein complex in skeletal muscle.Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene.Prenatal diagnosis of Ullrich congenital muscular dystrophy using haplotype analysis and collagen VI immunocytochemistry.Glycosylation eases muscular dystrophy.Congenital muscular dystrophy with short stature, proximal contractures and distal laxity.Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.
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