Approach to the diagnosis of congenital myopathies - Wikidata - wikimedia - TriplyDB

Approach to the diagnosis of congenital myopathies

Approach to the diagnosis of congenital myopathies

http://www.wikidata.org/entity/Q26999314

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Kelch proteins: emerging roles in skeletal muscle development and diseases.ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1.A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.Expanding the phenotype associated with the NEFL mutation: neuromuscular disease in a family with overlapping myopathic and neurogenic findings.Loss of Tropomodulin4 in the zebrafish mutant träge causes cytoplasmic rod formation and muscle weakness reminiscent of nemaline myopathy.X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 gene Congenital myopathies: Natural history of a large pediatric cohort.Skeletal muscle microRNA and messenger RNA profiling in cofilin-2 deficient mice reveals cell cycle dysregulation hindering muscle regeneration.Aerobic Training in Patients with Congenital Myopathy.Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS.Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers.The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients Muscle magnetic resonance imaging in congenital myasthenic syndromes.Increasing Role of Titin Mutations in Neuromuscular Disorders.Feeding and Swallowing Disorders in Pediatric Neuromuscular Diseases: An Overview.Phenotypes, genotypes, and prevalence of congenital myopathies older than 5 years in Denmark.A diagnostic approach to recurrent myalgia and rhabdomyolysis in children.Myopathology in times of modern imaging.Anesthetic management of 877 pediatric patients undergoing muscle biopsy for neuromuscular disorders: a 20-year review.Prenatal diagnosis of congenital myopathies and muscular dystrophies.RYR1-related myopathies: a wide spectrum of phenotypes throughout life.Myopathology in congenital myopathies.A novel intronic mutation in MTM1 detected by RNA analysis in a case of X-linked myotubular myopathy.Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.Establishing prevalence in rare neuromuscular diseases: A lesson from congenital myopathies.Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic.Pediatric laminopathies: Whole-body magnetic resonance imaging fingerprint and comparison with Sepn1 myopathy.Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases.Congenital myopathies: clinical phenotypes and new diagnostic tools.Early-Onset Myopathies: Clinical Findings, Prevalence of Subgroups and Diagnostic Approach in a Single Neuromuscular Referral Center in Germany.The relative frequency of common neuromuscular diagnoses in a reference center.A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness.Genetic and functional analysis of the RYR1 mutation p.Thr84Met revealed a susceptibility to malignant hyperthermia.Congenital fiber-type disproportion in an ambulatory rehabilitation setting : A case report.Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion.Clinical and Pathologic Findings of Korean Patients with RYR1-Related Congenital Myopathy.New massive parallel sequencing approach improves the genetic characterization of congenital myopathies.

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Approach to the diagnosis of congenital myopathies

http://www.wikidata.org/entity/Q26999314

description

2014 nî lūn-bûn

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2014 թուականի Փետրուարին հրատարակուած գիտական յօդուած

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2014 թվականի փետրվարին հրատարակված գիտական հոդված

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2014年の論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年论文

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Approach to the diagnosis of congenital myopathies

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Approach to the diagnosis of congenital myopathies

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Approach to the diagnosis of congenital myopathies

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Approach to the diagnosis of congenital myopathies

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Approach to the diagnosis of congenital myopathies

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Approach to the diagnosis of congenital myopathies

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Approach to the diagnosis of congenital myopathies

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Approach to the diagnosis of congenital myopathies

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Approach to the diagnosis of congenital myopathies

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J.NMD.2013.11.003

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Neuromuscular Disorders

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Approach to the diagnosis of congenital myopathies

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Caroline Sewry

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Carsten G Bönnemann

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Ching H Wang

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International Standard of Care Committee for Congenital Myopathies

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James J Dowling

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Kimberly Amburgey

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Nigel Clarke

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Susana Quijano-Roy

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P2860

Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy

A novel nemaline myopathy in the Amish caused by a mutation in troponin T1

A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy

Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2

Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes

A single homozygous point mutation in a 3'untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathy

Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies

Missense mutations of ACTA1 cause dominant congenital myopathy with cores

Nemaline myopathy: a clinical study of 143 cases

Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy

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