(Q77131942)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9713858%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

review article

1 reference

title

Genetics of the nemaline myopathies and the myotubular myopathies (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9713858%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

author name string

C Wallgren-Pettersson

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9713858%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

publication date

1 August 1998

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9713858%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

published in

Neuromuscular Disorders

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9713858%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

volume

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9713858%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9713858%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

page(s)

401-404

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9713858%20AND%20SRC:MED&resulttype=core&format=json

40th ENMC Sponsored International Workshop: Nemaline Myopathy. 2-4 February 1996, Naarden, The Netherlands

3 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900045-5

7 January 2021

A gene for autosomal recessive nemaline myopathy assigned to chromosome 2q by linkage analysis

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900045-5

7 January 2021

The complete primary structure of human nebulin and its correlation to muscle structure

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900045-5

7 January 2021

Fetal akinesia sequence caused by nemaline myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900045-5

7 January 2021

Nemaline myopathy with intranuclear rods--intranuclear rod myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900045-5

7 January 2021

Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900045-5

7 January 2021

A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900045-5

7 January 2021

The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900045-5

7 January 2021

Familial "myotubular" myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900045-5

7 January 2021

Report on the 20th ENMC sponsored international workshop: myotubular/centronuclear myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900045-5

7 January 2021

Deletions in Xq28 in two boys with myotubular myopathy and abnormal genital development define a new contiguous gene syndrome in a 430 kb region.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900045-5

7 January 2021

X-linked myotubular myopathy: refinement of the gene to a 280-kb region with new and highly informative microsatellite markers

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900045-5

7 January 2021

A 900-kb cosmid contig and 10 new transcripts within the candidate region for myotubular myopathy (MTM1).

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900045-5

7 January 2021

A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900045-5

7 January 2021

Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900045-5

7 January 2021

Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900045-5

7 January 2021

Cloning and characterization of an alternatively spliced gene in proximal Xq28 deleted in two patients with intersexual genitalia and myotubular myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900045-5

7 January 2021

Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 gene

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900045-5

7 January 2021

A mutation in the MTM1 gene invalidates a previous suggestion of nonallelic heterogeneity in X-linked myotubular myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900045-5

7 January 2021

10.1016/S0960-8966(98)00045-5

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9713858%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

1 reference