(Q52639740)

5 May 2018

title

RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling. (English)

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5 May 2018

author

Vincent Mouly

10

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5 May 2018

Michael R. Duchen

11

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5 May 2018

Heinz Jungbluth

12

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5 May 2018

Ori Rokach

object named as

Ori Rokach

2

0 references

Jo M Wilmshurst

object named as

Jo M Wilmshurst

6

0 references

author name string

Haiyan Zhou

1

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5 May 2018

Lucy Feng

3

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5 May 2018

Iulia Munteanu

4

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5 May 2018

Kamel Mamchaoui

5

1 reference

5 May 2018

Caroline Sewry

7

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5 May 2018

Adnan Y Manzur

8

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5 May 2018

Komala Pillay

9

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5 May 2018

Susan Treves

13

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5 May 2018

Francesco Muntoni

14

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5 May 2018

publication date

17 April 2013

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5 May 2018

published in

Human Mutation

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5 May 2018

volume

34

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5 May 2018

issue

7

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5 May 2018

page(s)

986-996

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5 May 2018

Excitation--contraction uncoupling by a human central core disease mutation in the ryanodine receptor

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Calcitonin gene-related peptide restores disrupted excitation-contraction coupling in myotubes expressing central core disease mutations in RyR1.

21 January 2018

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21 January 2018

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21 January 2018

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Targeted down-regulation of caveolin-3 is sufficient to inhibit myotube formation in differentiating C2C12 myoblasts. Transient activation of p38 mitogen-activated protein kinase is required for induction of caveolin-3 expression and subsequent myot

21 January 2018

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7 January 2021

IP3 dependent Ca2+ signals in muscle cells are involved in regulation of gene expression.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22326

7 January 2021

IP(3) receptors, IP(3) transients, and nucleus-associated Ca(2+) signals in cultured skeletal muscle

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7 January 2021

Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene

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7 January 2021

A severe clinical and pathological variant of central core disease with possible autosomal recessive inheritance

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7 January 2021

Investigation of the effect of inositol trisphosphate in skinned skeletal muscle fibres with functional excitation-contraction coupling

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22326

7 January 2021

Identifiers

DOI

10.1002/HUMU.22326

1 reference

5 May 2018

PubMed ID

23553787

1 reference

5 May 2018