Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies - Wikidata - awgldk - TriplyDB

Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies

Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies

http://www.wikidata.org/entity/Q57334263

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Pathogenic mechanisms in centronuclear myopathies Respiratory assessment in centronuclear myopathies Review of RyR1 pathway and associated pathomechanisms Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies Neuronal nitric oxide synthase is dislocated in type I fibers of myalgic muscle but can recover with physical exercise training Calcium homeostasis in myogenic differentiation factor 1 (MyoD)-transformed, virally-transduced, skin-derived equine myotubes Using exome data to identify malignant hyperthermia susceptibility mutations.Diagnostic approach to the congenital muscular dystrophies.Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1.Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome Congenital myopathies: Natural history of a large pediatric cohort.From the Journal archives: hereditary aspects of malignant hyperthermia.Triadopathies: an emerging class of skeletal muscle diseases.Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness.Crystal structures of ryanodine receptor SPRY1 and tandem-repeat domains reveal a critical FKBP12 binding determinant.Novel excitation-contraction uncoupled RYR1 mutations in patients with central core disease.Structural determinants of skeletal muscle ryanodine receptor gating Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum.Variable myopathic presentation in a single family with novel skeletal RYR1 mutation.Genotype-phenotype correlations in recessive RYR1-related myopathies.RYR1 mutations as a cause of ophthalmoplegia, facial weakness, and malignant hyperthermia.Phenotypes, genotypes, and prevalence of congenital myopathies older than 5 years in Denmark.The neuromuscular differential diagnosis of joint hypermobility.Malignant hyperthermia, a Scandinavian update.RYR1-Related Myopathies: Clinical, Histopathologic and Genetic Heterogeneity Among 17 Patients from a Portuguese Tertiary Centre.Clinical course of growth in patients with congenital neuromuscular disease in a single multidisciplinary neuromuscular clinic.RYR1-related myopathies: a wide spectrum of phenotypes throughout life.Genotype-Phenotype Correlations of Malignant Hyperthermia and Central Core Disease Mutations in the Central Region of the RYR1 Channel.Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.Crystal structures of wild type and disease mutant forms of the ryanodine receptor SPRY2 domain.A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene.RYR1 causing distal myopathy.Malignant Hyperthermia in the Post-Genomics Era: New Perspectives on an Old Concept.Physiology and pathophysiology of excitation-contraction coupling: the functional role of ryanodine receptor.Dominant LGMD2A: alternative diagnosis or hidden digenism?Clinical and Pathologic Findings of Korean Patients with RYR1-Related Congenital Myopathy.Novel Homozygous Missense Mutation in RYR1 Leads to Severe Congenital Ptosis, Ophthalmoplegia, and Scoliosis in the Absence of Myopathy.Next generation sequencing reveals ryanodine receptor 1 mutations in a Chinese central core disease cohort.Intra-familial variability associated with recessive RYR1 mutation diagnosed prenatally by exome sequencing.

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Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies

http://www.wikidata.org/entity/Q57334263

description

article

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im April 2012 veröffentlichter wissenschaftlicher Artikel

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wetenschappelijk artikel

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наукова стаття, опублікована у квітні 2012

@uk

name

Clinical and genetic findings ...... r 1 gene-associated myopathies

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Clinical and genetic findings ...... r 1 gene-associated myopathies

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Clinical and genetic findings ...... r 1 gene-associated myopathies

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Clinical and genetic findings ...... r 1 gene-associated myopathies

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Clinical and genetic findings ...... r 1 gene-associated myopathies

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Clinical and genetic findings ...... r 1 gene-associated myopathies

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Clinical and genetic findings ...... r 1 gene-associated myopathies

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Adnan Y. Manzur

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Andrea Klein

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Anna Sarkozy

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Caroline Sewry

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Cheryl Longman

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David Hilton Jones

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Elizabeth Wraige

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Fiona Norwood

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Francesco Muntoni

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Haiyan Zhou

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Central core disease

Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility.

Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis.

Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene.

The I4895T mutation in the type 1 ryanodine receptor induces fiber-type specific alterations in skeletal muscle that mimic premature aging.

Central core disease is due to RYR1 mutations in more than 90% of patients.

Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing.

Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene.

Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies.

RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene.

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981-988

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scholarly article

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10.1002/HUMU.22056

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6

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33

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Janbernd Kirschner

Uffe Birk Jensen

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2012-04-04T00:00:00Z

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22473935

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