Functional Characterization of a Central Core Disease RyR1 Mutation (p.Y4864H) Associated with Quantitative Defect in RyR1 Protein. (Q37589625)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27858745%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

title

Functional Characterization of a Central Core Disease RyR1 Mutation (p.Y4864H) Associated with Quantitative Defect in RyR1 Protein (English)

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27 March 2020

3

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Julie Brocard

5

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27 March 2020

Julien Fauré

15

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13

Arnaud Lacour

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27 March 2020

author name string

Marine Cacheux

1

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27 March 2020

Ariane Blum

2

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27 March 2020

Anne Sophie Wozny

4

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27 March 2020

Kamel Mamchaoui

6

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27 March 2020

Vincent Mouly

7

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27 March 2020

Nathalie Roux-Buisson

8

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27 March 2020

John Rendu

9

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27 March 2020

Nicole Monnier

10

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27 March 2020

Renée Krivosic

11

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27 March 2020

Paul Allen

12

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27 March 2020

Joël Lunardi

14

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27 March 2020

Isabelle Marty

16

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27 March 2020

publication date

1 November 2015

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Journal of neuromuscular diseases

27 March 2020

published in

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27 March 2020

volume

2

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27 March 2020

issue

4

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27 March 2020

page(s)

421-432

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Creative Commons Attribution-NonCommercial 4.0 International

27 March 2020

copyright license

start time

20 November 2015

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April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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23 August 2017

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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

23 August 2017

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A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease

23 August 2017

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Biochemical evidence for a complex involving dihydropyridine receptor and ryanodine receptor in triad junctions of skeletal muscle

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1 September 2018

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1 September 2018

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1 September 2018

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1 September 2018

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1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27858745

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.3233/JND-150073

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27858745%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

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27 March 2020

PubMed publication ID

27858745

1 reference