New aspects on patients affected by dysferlin deficient muscular dystrophy - Wikidata - awgldk - TriplyDB

New aspects on patients affected by dysferlin deficient muscular dystrophy

New aspects on patients affected by dysferlin deficient muscular dystrophy

http://www.wikidata.org/entity/Q34289381

about

Crystal structures of the human Dysferlin inner DysF domain Membrane blebbing as an assessment of functional rescue of dysferlin-deficient human myotubes via nonsense suppression.A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy.The effects of MyD88 deficiency on disease phenotype in dysferlin-deficient A/J mice: role of endogenous TLR ligands.Genetic ablation of complement C3 attenuates muscle pathology in dysferlin-deficient mice Novel diagnostic features of dysferlinopathies.Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene Dysferlinopathy course and sportive activity: clues for possible treatment Heterogeneous characteristics of Korean patients with dysferlinopathy.Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects.Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B.The Clinical Outcome Study for dysferlinopathy: An international multicenter study.Dysferlin-deficient muscular dystrophy and innate immune activation.Undiagnosed myopathy before surgery and safe anaesthesia table.Membrane Injury and Repair in the Muscular Dystrophies.Dysferlin-Deficient Muscular Dystrophy Identified Through Laboratory Testing for Elevated Aminotransferases.Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations.Progress and challenges in diagnosis of dysferlinopathy.UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene.Dexamethasone induces dysferlin in myoblasts and enhances their myogenic differentiation.Limb girdle muscular dystrophy type 2B masquerading as inflammatory myopathy: case report.Toward an objective measure of functional disability in dysferlinopathy.Detection of Dysferlin Gene Pathogenic Variants in the Indian Population in Patients Predicted to have a Dysferlinopathy Using a Blood-based Monocyte Assay and Clinical Algorithm: A Model for Accurate and Cost-effective Diagnosis.Dysferlin aggregation in limb-girdle muscular dystrophy type 2B/Miyoshi Myopathy necessitates mutational screen for diagnosis [corrected].Dysferlinopathy presenting as rhabdomyolysis and acute renal failure.Respiratory and cardiac function in japanese patients with dysferlinopathy.Immunodetection analysis of muscular dystrophies in Mexico.Exome sequencing identifies novel dysferlin mutation in a family with pauci-symptomatic heterozygous carriers.

P2860

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P2860

New aspects on patients affected by dysferlin deficient muscular dystrophy

http://www.wikidata.org/entity/Q34289381

description

2009 nî lūn-bûn

@nan

2009 թուականի Յունիսին հրատարակուած գիտական յօդուած

@hyw

2009 թվականի հունիսին հրատարակված գիտական հոդված

@hy

2009年の論文

@ja

2009年学术文章

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2009年学术文章

@zh-cn

2009年学术文章

@zh-hans

2009年学术文章

@zh-my

2009年学术文章

@zh-sg

2009年學術文章

@yue

name

New aspects on patients affected by dysferlin deficient muscular dystrophy

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New aspects on patients affected by dysferlin deficient muscular dystrophy

@en

New aspects on patients affected by dysferlin deficient muscular dystrophy

@nl

type

label

New aspects on patients affected by dysferlin deficient muscular dystrophy

@ast

New aspects on patients affected by dysferlin deficient muscular dystrophy

@en

New aspects on patients affected by dysferlin deficient muscular dystrophy

@nl

prefLabel

New aspects on patients affected by dysferlin deficient muscular dystrophy

@ast

New aspects on patients affected by dysferlin deficient muscular dystrophy

@en

New aspects on patients affected by dysferlin deficient muscular dystrophy

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JNNP.2009.178038

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Journal of Neurology, Neurosurgery and Psychiatry

P1476

New aspects on patients affected by dysferlin deficient muscular dystrophy

@en

P2093

Ahmed Aboumousa

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Anna Sarkozy

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Gianluca Vita

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Judith Hudson

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Kate Bushby

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Lars Klinge

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Mark Roberts

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Michelle Eagle

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Richard Charlton

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Rita Barresi

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P2860

Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s)

Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype

Defective membrane repair in dysferlin-deficient muscular dystrophy

Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B

Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes.

Dysferlin-mediated membrane repair protects the heart from stress-induced left ventricular injury.

Dysferlin deficiency enhances monocyte phagocytosis: a model for the inflammatory onset of limb-girdle muscular dystrophy 2B.

Dysferlin deficiency shows compensatory induction of Rab27A/Slp2a that may contribute to inflammatory onset.

Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophy.

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946-953

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10.1136/JNNP.2009.178038

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9

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81

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Hanns Lochmüller

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2009-06-14T00:00:00Z

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26293560

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