(Q35192303)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12899878%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

review article

1 reference

title

109th ENMC International Workshop: 5th workshop on nemaline myopathy, 11th-13th October 2002, Naarden, The Netherlands (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12899878%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

0 references

0 references

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12899878%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

author name string

Carina Wallgren-Pettersson

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12899878%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

publication date

1 August 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12899878%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

published in

Neuromuscular Disorders

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12899878%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

volume

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12899878%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12899878%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

page(s)

501-507

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12899878%20AND%20SRC:MED&resulttype=core&format=json

Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy

6 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900007-5

7 January 2021

Report of the 70th ENMC International Workshop: nemaline myopathy, 11-13 June 1999, Naarden, The Netherlands.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900007-5

7 January 2021

Nebulin mutations in autosomal recessive nemaline myopathy: an update

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900007-5

7 January 2021

Mutations in the nebulin gene can cause severe congenital nemaline myopathy.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900007-5

7 January 2021

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/10.1016%2FS0960-8966%2803%2900007-5

7 January 2021

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/10.1016%2FS0960-8966%2803%2900007-5

7 January 2021

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/10.1016%2FS0960-8966%2803%2900007-5

7 January 2021

A new phenotype of autosomal dominant nemaline myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900007-5

7 January 2021

A mutation in alpha-tropomyosin(slow) affects muscle strength, maturation and hypertrophy in a mouse model for nemaline myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900007-5

7 January 2021

Skeletal muscle of mice with a mutation in slow alpha-tropomyosin is weaker at lower lengths

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900007-5

7 January 2021

10.1016/S0960-8966(03)00007-5

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12899878%20AND%20SRC:MED&resulttype=core&format=json

release_ach3u7y23rgohdl6rfrdgnh6wi

6 November 2019

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ach3u7y23rgohdl6rfrdgnh6wi

24 November 2022

mapped directly with Wikidata item

1 reference