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DNAJB6 myopathy in an Asian cohort and cytoplasmic/nuclear inclusions.

DNAJB6 myopathy in an Asian cohort and cytoplasmic/nuclear inclusions.

http://www.wikidata.org/entity/Q54451026

about

J protein mutations and resulting proteostasis collapse DNAJB6 Myopathies: Focused Review on an Emerging and Expanding Group of Myopathies Exome sequencing identifies a DNAJB6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophy.Myopathy-causing mutations in an HSP40 chaperone disrupt processing of specific client conformers.Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies.Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy.Myofibrillar disruption and RNA-binding protein aggregation in a mouse model of limb-girdle muscular dystrophy 1D Diagnostically important muscle pathology in DNAJB6 mutated LGMD1D.Molecular chaperones and neuronal proteostasis.Mitochondrial abnormalities in the myofibrillar myopathies.Characteristic Posterior-dominant Lower Limb Muscle Involvement in Limb-girdle Muscular Dystrophy due to a DNAJB6 Phe93Leu Mutation.No need for more muscle biopsies in members of the Spanish LGMD1F family. The gene has been identified at last.A novel DNAJB6 mutation causes dominantly inherited distal-onset myopathy and compromises DNAJB6 function.DNAJ Proteins in neurodegeneration: essential and protective factors.DNAJB6 myopathy: a vacuolar myopathy with childhood onset.Two Korean Families with Limb-Girdle Muscular Dystrophy Type 1D Associated with DNAJB6 Mutations.Genotypic and Phenotypic Heterogeneity of LGMD1D due to Mutations The Author Reply: Genotypic and Phenotypic Heterogeneity of LGMD1D due to Mutations

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DNAJB6 myopathy in an Asian cohort and cytoplasmic/nuclear inclusions.

http://www.wikidata.org/entity/Q54451026

description

2013 nî lūn-bûn

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2013年の論文

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2013年学术文章

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2013年学术文章

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2013年学术文章

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2013年学术文章

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2013年学术文章

@zh-sg

2013年學術文章

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2013年學術文章

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2013年學術文章

@zh-hant

name

DNAJB6 myopathy in an Asian cohort and cytoplasmic/nuclear inclusions.

@en

DNAJB6 myopathy in an Asian cohort and cytoplasmic/nuclear inclusions.

@nl

type

label

DNAJB6 myopathy in an Asian cohort and cytoplasmic/nuclear inclusions.

@en

DNAJB6 myopathy in an Asian cohort and cytoplasmic/nuclear inclusions.

@nl

prefLabel

DNAJB6 myopathy in an Asian cohort and cytoplasmic/nuclear inclusions.

@en

DNAJB6 myopathy in an Asian cohort and cytoplasmic/nuclear inclusions.

@nl

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J.NMD.2012.12.010

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Neuromuscular Disorders

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DNAJB6 myopathy in an Asian cohort and cytoplasmic/nuclear inclusions.

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Daita Kaneda

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Hideki Houzen

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Hidenao Sasaki

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Ichiro Yabe

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Ikuya Nonaka

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Kazuma Sugie

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Makiko Osawa

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Satoru Noguchi

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Takatoshi Sato

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Tomoyoshi Kondo

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269-276

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scholarly article

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10.1016/J.NMD.2012.12.010

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3

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23

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2013-02-06T00:00:00Z

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235440186

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23394708

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