Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1-related nemaline myopathy (NEM3).

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Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1-related nemaline myopathy (NEM3).

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http://www.wikidata.org/entity/Q47735755

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2018 nî lūn-bûn

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2018年の論文

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年學術文章

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name

Dysfunctional sarcomere contra ...... ated nemaline myopathy (NEM3).

@en

Dysfunctional sarcomere contra ...... CTA1-related nemaline myopathy

@nl

type

Item

label

Dysfunctional sarcomere contra ...... ated nemaline myopathy (NEM3).

@en

Dysfunctional sarcomere contra ...... CTA1-related nemaline myopathy

@nl

prefLabel

Dysfunctional sarcomere contra ...... ated nemaline myopathy (NEM3).

@en

Dysfunctional sarcomere contra ...... CTA1-related nemaline myopathy

@nl

P1476

Dysfunctional sarcomere contra ...... lated nemaline myopathy (NEM3)

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P2093

Albert Kalganov

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Barbara Joureau

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Coen A C Ottenheijm

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Edoardo Malfatti

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Igor Kovacevic

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Johan Lindqvist

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Josine Marieke de Winter

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Michaela Yuen

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Nigel F Clarke

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Norma B Romero

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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

Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.

Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

Atomic structure of the actin:DNase I complex

SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling

Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy

Activation of fast skeletal muscle troponin as a potential therapeutic approach for treating neuromuscular diseases

K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity

P304

269-282

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P31

scholarly article

P356

10.1002/ANA.25144

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P433

http://www.w3.org/2001/XMLSchema#string

P478

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P50

P577

2018-02-06T00:00:00Z

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P698

29328520

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P932

5821533

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