Genetic basis of limb-girdle muscular dystrophies: the 2014 update
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Genetic Engineering of Dystroglycan in Animal Models of Muscular DystrophyTrendelenburg-Like Gait, Instability and Altered Step Patterns in a Mouse Model for Limb Girdle Muscular Dystrophy 2iPOPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein traffickingMuscle fatigue, nNOS and muscle fiber atrophy in limb girdle muscular dystrophyMyopathic changes in murine skeletal muscle lacking syneminThe Dystrophin Complex: Structure, Function, and Implications for TherapyMutational spectrum of Chinese LGMD patients by targeted next-generation sequencing.Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt.Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy-dystroglycanopathy C1.MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.Borderlines between Sarcopenia and Mild Late-Onset Muscle Disease.The CC genotype of the delta-sarcoglycan gene polymorphism rs13170573 is associated with obstructive sleep apnea in the Chinese population.A COLQ Missense Mutation in Sphynx and Devon Rex Cats with Congenital Myasthenic SyndromeThe E3 ubiquitin ligase TRIM32 regulates myoblast proliferation by controlling turnover of NDRG2.Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutationsMeeting Report: New Directions in the Biology and Disease of Skeletal Muscle 2014Are all the previously reported genetic variants in limb girdle muscular dystrophy genes pathogenic?Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies.Myofibrillar disruption and RNA-binding protein aggregation in a mouse model of limb-girdle muscular dystrophy 1DEpidemiological and Molecular Characterization of a Mexican Population Isolate with High Prevalence of Limb-Girdle Muscular Dystrophy Type 2A Due to a Novel Calpain-3 Mutation.Human J-protein DnaJB6b Cures a Subset of Saccharomyces cerevisiae Prions and Selectively Blocks Assembly of Structurally Related Amyloids.Identification of an intragenic deletion in the SGCB gene through a re-evaluation of negative next generation sequencing resultsProspect of gene therapy for cardiomyopathy in hereditary muscular dystrophy.The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patientsRare disease clinical trials: Power in numbers.A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies.Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).Increasing Role of Titin Mutations in Neuromuscular Disorders.Diagnostic use of Massively Parallel Sequencing in Neuromuscular Diseases: Towards an Integrated Diagnosis.The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United StatesThe Classification, Natural History and Treatment of the Limb Girdle Muscular DystrophiesImmunohistochemistry of sarcolemmal membrane-associated proteins in formalin-fixed and paraffin-embedded skeletal muscle tissue: a promising tool for the diagnostic evaluation of common muscular dystrophies.Concise review: mesoangioblast and mesenchymal stem cell therapy for muscular dystrophy: progress, challenges, and future directions.Calcium signaling in membrane repair.Coupling of excitation to Ca2+ release is modulated by dysferlin.What Have We Learned from Glycosyltransferase Knockouts in Mice?Whole Exome Sequencing Leading to the Diagnosis of Dysferlinopathy with a Novel Missense Mutation (c.959G>C).Novel fukutin mutations in limb-girdle muscular dystrophy type 2M with childhood onsetTreadmill Training with HAL Exoskeleton-A Novel Approach for Symptomatic Therapy in Patients with Limb-Girdle Muscular Dystrophy-Preliminary StudyDDA: A Novel Network-Based Scoring Method to Identify Disease-Disease Associations.
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Genetic basis of limb-girdle muscular dystrophies: the 2014 update
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article científic
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article scientifique
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articol științific
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articolo scientifico
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artigo científico
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artigo científico
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artigo científico
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artikel ilmiah
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artikull shkencor
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artículo científico
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name
Genetic basis of limb-girdle muscular dystrophies: the 2014 update
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Genetic basis of limb-girdle muscular dystrophies: the 2014 update
@en
prefLabel
Genetic basis of limb-girdle muscular dystrophies: the 2014 update
@en
P2860
P1433
P1476
Genetic basis of limb-girdle muscular dystrophies: the 2014 update
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P2093
Vincenzo Nigro
P2860
P5008
P577
2014-05-01T00:00:00Z