(Q46769258)

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Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.

scientific article published in May 2008

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2 January 2020

Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores (English)

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2 January 2020

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2 January 2020

Claudia Castiglioni

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2 January 2020

Sabrina Sacconi

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2 January 2020

Anneke J van der Kooi

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Anneke Van der Kooi

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2 January 2020

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Eva Morava

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2 January 2020

Marianne de Visser

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Marianne de Visser

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2 January 2020

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Nicole Monnier

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2 January 2020

Isabelle Marty

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2 January 2020

Claude Desnuelle

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2 January 2020

Brigitte Estournet

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2 January 2020

Ana Ferreiro

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2 January 2020

Norma Romero

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2 January 2020

Annie Laquerriere

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2 January 2020

Leila Lazaro

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2 January 2020

Jean-Jacques Martin

12

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2 January 2020

Annick Rossi

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2 January 2020

Corien Verschuuren

17

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2 January 2020

Joël Lunardi

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2 January 2020

publication date

1 May 2008

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2 January 2020

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2 January 2020

29

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2 January 2020

5

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2 January 2020

670-678

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2 January 2020

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20696

21 January 2018

Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20696

21 January 2018

Workshop report of the 89th ENMC International Workshop: Central Core Disease, 19th-20th January 2001, Hilversum, The Netherlands.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20696

21 January 2018

Altered ryanodine receptor function in central core disease: leaky or uncoupled Ca(2+) release channels?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20696

21 January 2018

Functional characterization of mutants in the predicted pore region of the rabbit cardiac muscle Ca(2+) release channel (ryanodine receptor isoform 2).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20696

21 January 2018

Topology of the Ca2+ release channel of skeletal muscle sarcoplasmic reticulum (RyR1).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20696

21 January 2018

Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalized lymphocytes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20696

21 January 2018

Interactions between dihydropyridine receptors and ryanodine receptors in striated muscle

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20696

21 January 2018

Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20696

21 January 2018

A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20696

21 January 2018

Tissue-specific and developmentally regulated alternative splicing in mouse skeletal muscle ryanodine receptor mRNA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20696

21 January 2018

Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20696

21 January 2018

The highways and byways of mRNA decay

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20696

21 January 2018

Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20696

21 January 2018

Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20696

21 January 2018

Altered mRNA splicing of the skeletal muscle ryanodine receptor and sarcoplasmic/endoplasmic reticulum Ca2+-ATPase in myotonic dystrophy type 1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20696

21 January 2018

A variably spliced region in the type 1 ryanodine receptor may participate in an inter-domain interaction.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20696

21 January 2018

Negatively charged amino acids within the intraluminal loop of ryanodine receptor are involved in the interaction with triadin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20696

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20696

21 January 2018

Cloning and characterization of a new isoform of skeletal muscle triadin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20696

21 January 2018

An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20696

21 January 2018

Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20696

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20696

21 January 2018

Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20696

21 January 2018

Mutations in RYR1 in malignant hyperthermia and central core disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20696

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20696

21 January 2018

A new congenital non-progressive myopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20696

21 January 2018

Central core disease is due to RYR1 mutations in more than 90% of patients.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20696

21 January 2018

Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20696

21 January 2018

Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20696

21 January 2018

Multi-minicore disease--searching for boundaries: phenotype analysis of 38 cases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20696

7 January 2021

based on heuristic

inferred from DOI database lookup

Congenital myopathies in the new millennium

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20696

7 January 2021

based on heuristic

inferred from DOI database lookup

Central core disease due to recessive mutations in RYR1 gene: is it more common than described?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20696

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.20696

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18253926%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18253926%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

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