RYR1 causing distal myopathy (Q47117914)

8 January 2018

title

RYR1 causing distal myopathy (English)

1 reference

8 January 2018

4

Margherita Milone

1 reference

8 January 2018

Ruple S Laughlin

1

1 reference

8 January 2018

Zhiyv Niu

series ordinal

2

1 reference

8 January 2018

Eric Wieben

series ordinal

3

1 reference

8 January 2018

publication date

4 October 2017

1 reference

8 January 2018

Molecular genetics & genomic medicine

published in

1 reference

8 January 2018

volume

5

1 reference

8 January 2018

issue

6

1 reference

8 January 2018

page(s)

800-804

1 reference

8 January 2018

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5702567

1 reference

Malignant hyperthermia-associated mutations in the S2-S3 cytoplasmic loop of type 1 ryanodine receptor calcium channel impair calcium-dependent inactivation.

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5702567

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5702567

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

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5702567

Characterization of recessive RYR1 mutations in core myopathies

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5702567

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

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5702567

Ryanodine receptor mutations in malignant hyperthermia and central core disease

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5702567

Calf enlargement in neuromuscular diseases: a quantitative ultrasound study in 350 patients and review of the literature

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5702567

Autosomal dominant distal myopathy due to a novel ACTA1 mutation.

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5702567

217th ENMC International Workshop: RYR1-related myopathies, Naarden, The Netherlands, 29-31 January 2016.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5702567

RYR1 mutations are a common cause of congenital myopathies with central nuclei

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5702567

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

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5702567

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

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5702567

Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5702567

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

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5702567

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

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5702567

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

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5702567

Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5702567

Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies

15 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FMGG3.338

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

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29178655

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

1 reference

https://pubmed.ncbi.nlm.nih.gov/29178655

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/MGG3.338

1 reference

8 January 2018

PMC publication ID

5702567

1 reference

8 January 2018

PubMed publication ID

29178655

1 reference

8 January 2018