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Characterization of human skeletal muscle Ankrd2Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan geneThe seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12Mutation in the Scyl1 gene encoding amino-terminal kinase-like protein causes a recessive form of spinocerebellar neurodegeneration.Approach to the diagnosis of congenital myopathiesGenomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E)Telethonin protein expression in neuromuscular disordersK7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivityMitochondrial cardioencephalomyopathy due to a novel SCO2 mutation in a Brazilian patient: case report and literature review.Myotonic dystrophy: genetic, clinical, and molecular analysis of patients from 41 Brazilian families.Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families.Preclinical studies with umbilical cord mesenchymal stromal cells in different animal models for muscular dystrophy.Quantitative T2 combined with texture analysis of nuclear magnetic resonance images identify different degrees of muscle involvement in three mouse models of muscle dystrophy: mdx, Largemyd and mdx/Largemyd.The 10 autosomal recessive limb-girdle muscular dystrophies.Assessing pathogenicity for novel mutation/sequence variants: the value of healthy older individualsMuscle protein alterations in LGMD2I patients with different mutations in the Fukutin-related protein geneConsensus statement on standard of care for congenital myopathies.Genetic heterogeneity for Duchenne-like muscular dystrophy (DLMD) based on linkage and 50 DAG analysis.Human multipotent mesenchymal stromal cells from distinct sources show different in vivo potential to differentiate into muscle cells when injected in dystrophic mice.Stem cells from umbilical cord blood do have myogenic potential, with and without differentiation induction in vitroConcordant utrophin upregulation in phenotypically discordant DMD/BMD brothers.SJL dystrophic mice express a significant amount of human muscle proteins following systemic delivery of human adipose-derived stromal cells without immunosuppression.Heterogeneity of classic congenital muscular dystrophy with involvement of the central nervous system: report of five atypical cases.The effect of calpain 3 deficiency on the pattern of muscle degeneration in the earliest stages of LGMD2A.Protein and DNA analysis for the prenatal diagnosis of alpha2-laminin-deficient congenital muscular dystrophy.Mitochondrial respiratory chain and creatine kinase activities in mdx mouse brain.Calpainopathy: how broad is the spectrum of clinical variability?Systemic delivery of human mesenchymal stromal cells combined with IGF-1 enhances muscle functional recovery in LAMA2 dy/2j dystrophic mice.A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21.Half the dystrophin gene is apparently enough for a mild clinical course: confirmation of its potential use for gene therapy.Striatum brain-derived neurotrophic factor levels are decreased in dystrophin-deficient mice.Assessment of the 50-kDa dystrophin-associated glycoprotein in Brazilian patients with severe childhood autosomal recessive muscular dystrophy.Linkage analysis in families with autosomal recessive limb-girdle muscular dystrophy (LGMD) and 6q probes flanking the dystrophin-related sequence.Clinical variability in calpainopathy: what makes the difference?Central nervous system involvement in the animal model of myodystrophy.Behavioral Responses in Animal Model of Congenital Muscular Dystrophy 1D.Oxidative variables and antioxidant enzymes activities in the mdx mouse brain.Nocturnal rhythm of growth hormone in Duchenne patients: effect of different doses of mazindol and/or cyproheptadine.Human multipotent adipose-derived stem cells restore dystrophin expression of Duchenne skeletal-muscle cells in vitro.Reduction of acethylcolinesterase activity in the brain of mdx mice.
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Mariz Vainzof
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Mariz Vainzof
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Mariz Vainzof
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Mariz Vainzof
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Mariz Vainzof
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Mariz Vainzof
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Mariz Vainzof
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Mariz Vainzof
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P1053
J-7150-2012
P106
P21
P31
P3829
P496
0000-0002-2797-0782