(Q24293780)

GOA release 2020-03-11

1 reference

Karen Majczenko

1

Karen

Majczenko

1 reference

20 October 2023

Ann E Davidson

2

Ann E

Davidson

1 reference

20 October 2023

Sandra Camelo-Piragua

3

Sandra

Camelo-Piragua

1 reference

20 October 2023

Pankaj B Agrawal

4

Pankaj B

Agrawal

1 reference

20 October 2023

Richard A Manfready

5

Richard A

Manfready

1 reference

20 October 2023

Xingli Li

6

Xingli

Li

1 reference

20 October 2023

Sucheta Joshi

7

Sucheta

Joshi

1 reference

20 October 2023

Jishu Xu

8

Jishu

Xu

1 reference

20 October 2023

Weiping Peng

9

Weiping

Peng

1 reference

20 October 2023

Alan H Beggs

10

Alan H

Beggs

1 reference

20 October 2023

Jun Z Li

11

Jun Z

Li

1 reference

20 October 2023

Margit Burmeister

12

Margit

Burmeister

1 reference

20 October 2023

James J Dowling

13

James J

American Journal of Human Genetics

Dowling

1 reference

20 October 2023

language of work or name

English

0 references

publication date

10 August 2012

0 references

published in

0 references

volume

91

0 references

issue

2

0 references

page(s)

365-71

0 references

cites work

Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415545

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415545

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415545

Congenital myopathies: an update

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415545

Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415545

Exome sequencing as a tool for Mendelian disease gene discovery

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415545

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415545

Increased expression of wild-type or a centronuclear myopathy mutant of dynamin 2 in skeletal muscle of adult mice leads to structural defects and muscle weakness

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415545

Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415545

MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415545

T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415545

Centronuclear (myotubular) myopathy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415545

27 September 2017

Multi-minicore Disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415545

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415545

182nd ENMC International Workshop: RYR1-related myopathies, 15-17th April 2011, Naarden, The Netherlands.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415545

Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415545

A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415545

Prevalence of congenital myopathies in a representative pediatric united states population

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22818856

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

164th ENMC International workshop: 6th workshop on centronuclear (myotubular) myopathies, 16–18th January 2009, Naarden, The Netherlands

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22818856