An integrated diagnosis strategy for congenital myopathies. (Q34797333)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23826317%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

title

An integrated diagnosis strategy for congenital myopathies (English)

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4 March 2020

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1

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4 March 2020

Johann Bohm

2

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4 March 2020

Julie Brocard

9

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4 March 2020

author name string

Nasim Vasli

3

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4 March 2020

Edoardo Malfatti

4

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4 March 2020

Stéphanie Le Gras

5

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4 March 2020

Claire Feger

6

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4 March 2020

Bernard Jost

7

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4 March 2020

Nicole Monnier

8

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4 March 2020

Hatice Karasoy

10

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4 March 2020

Marion Gérard

11

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4 March 2020

Maggie C Walter

12

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4 March 2020

Peter Reilich

13

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4 March 2020

Valérie Biancalana

14

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4 March 2020

Christine Kretz

15

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4 March 2020

Nadia Messaddeq

16

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4 March 2020

Isabelle Marty

17

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4 March 2020

Joël Lunardi

18

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4 March 2020

Norma B Romero

19

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4 March 2020

Jocelyn Laporte

20

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4 March 2020

language of work or name

English

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publication date

24 June 2013

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4 March 2020

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4 March 2020

volume

8

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4 March 2020

issue

6

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4 March 2020

page(s)

e67527

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Creative Commons Attribution 4.0 International

4 March 2020

copyright license

start time

24 June 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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1 reference

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Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation

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Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy

8 July 2018

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Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization

8 July 2018

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8 July 2018

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Pathological defects in congenital myopathies

8 July 2018

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What's new in congenital myopathies?

8 July 2018

1 reference

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Characterization of recessive RYR1 mutations in core myopathies

8 July 2018

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Mutations in RYR1 in malignant hyperthermia and central core disease

8 July 2018

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8 July 2018

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

8 July 2018

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8 July 2018

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21 January 2018

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A mutation in the human ryanodine receptor gene associated with central core disease

21 January 2018

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A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia

21 January 2018

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Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion

21 January 2018

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Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia

21 January 2018

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Prevalence of congenital myopathies in a representative pediatric united states population

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23826317

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0067527

1 reference

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4 March 2020

0 references

1 reference

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4 March 2020

PubMed publication ID

23826317

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23826317%20AND%20SRC:MED&resulttype=core&format=json