Silent polymorphisms in the RYR1 gene do not modify the phenotype of the p.4898 I>T pathogenic mutation in central core disease: a case report (Q34013321)

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English	Silent polymorphisms in the RYR1 gene do not modify the phenotype of the p.4898 I>T pathogenic mutation in central core disease: a case report	scientific article

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scholarly article

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Europe PubMed Central

PubMed publication ID

30 July 2017

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Silent polymorphisms in the RYR1 gene do not modify the phenotype of the p.4898 I>T pathogenic mutation in central core disease: a case report (English)

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

8

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Mayana Zatz

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Europe PubMed Central

PubMed publication ID

30 July 2017

author name string

Thais Cuperman

1

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Europe PubMed Central

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30 July 2017

Stephanie A Fernandes

2

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Europe PubMed Central

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30 July 2017

Naila C V Lourenço

3

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Europe PubMed Central

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30 July 2017

Lydia U Yamamoto

4

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Europe PubMed Central

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30 July 2017

Helga C A Silva

5

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Europe PubMed Central

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30 July 2017

Rita C M Pavanello

6

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Europe PubMed Central

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30 July 2017

Guilherme L Yamamoto

7

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30 July 2017

Acary S B Oliveira

9

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Europe PubMed Central

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30 July 2017

Mariz Vainzof

10

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30 July 2017

publication date

1 August 2014

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30 July 2017

BMC Research Notes

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30 July 2017

7

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30 July 2017

487

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30 July 2017

Core myopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4124474

5 July 2018

Population Differences in the Rate of Proliferation of International HapMap Cell Lines

1 reference

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5 July 2018

A map of human genome variation from population-scale sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4124474

5 July 2018

Central core myopathy with RYR1 mutation masks 5q spinal muscular atrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4124474

5 July 2018

Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4124474

5 July 2018

Mutations in RYR1 in malignant hyperthermia and central core disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4124474

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4124474

5 July 2018

Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4124474

5 July 2018

Central core disease: clinical, pathological, and genetic features

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4124474

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4124474

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4124474

5 July 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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4124474

5 July 2018

Central-core disease and malignant hyperpyrexia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4124474

5 July 2018

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4124474

5 July 2018

The spectrum of pathology in central core disease

1 reference

https://api.crossref.org/works/10.1186%2F1756-0500-7-487

21 January 2018

Expression of cytoskeleton proteins in central core disease.

1 reference

https://api.crossref.org/works/10.1186%2F1756-0500-7-487

21 January 2018

The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene

1 reference

https://api.crossref.org/works/10.1186%2F1756-0500-7-487

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/10.1186%2F1756-0500-7-487

21 January 2018

Familial RYR 1 mutation associated with mild and severe central core disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4124474

29 October 2018

150th ENMC International Workshop: Core Myopathies, 9-11th March 2007, Naarden, The Netherlands

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4124474

29 October 2018

Immunophenotyping of congenital myopathies: disorganization of sarcomeric, cytoskeletal and extracellular matrix proteins

1 reference

https://pubmed.ncbi.nlm.nih.gov/25084811

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The role of immunocytochemistry in congenital myopathies

1 reference

https://pubmed.ncbi.nlm.nih.gov/25084811

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/25084811

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new mutation in the skeletal ryanodine receptor gene (RYR1) is potentially causative of malignant hyperthermia, central core disease, and severe skeletal malformation

1 reference

https://pubmed.ncbi.nlm.nih.gov/25084811

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/1756-0500-7-487

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Dimensions Publication ID

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PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

ResearchGate publication ID

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