(Q58185618)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12207938%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

title

Nebulin mutations in autosomal recessive nemaline myopathy: an update (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12207938%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

1 reference

2

1 reference

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12 November 2019

author name string

Katarina Pelin

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12207938%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Maria Holmberg

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12207938%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Heinz Jungbluth

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12207938%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Carina Wallgren-Pettersson

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12207938%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Francesco Muntoni

5

1 reference

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12 November 2019

publication date

1 October 2002

1 reference

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12 November 2019

published in

Neuromuscular Disorders

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12207938%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

volume

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12207938%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

issue

7-8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12207938%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

page(s)

680-686

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12207938%20AND%20SRC:MED&resulttype=core&format=json

Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy

12 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900066-4

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%2802%2900066-4

7 January 2021

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900066-4

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%2802%2900066-4

7 January 2021

Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900066-4

7 January 2021

Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900066-4

7 January 2021

Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900066-4

7 January 2021

Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900066-4

7 January 2021

A novel nemaline myopathy in the Amish caused by a mutation in troponin T1

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900066-4

7 January 2021

Obscurin, a giant sarcomeric Rho guanine nucleotide exchange factor protein involved in sarcomere assembly

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900066-4

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%2802%2900066-4

7 January 2021

Characterization of nebulette and nebulin and emerging concepts of their roles for vertebrate Z-discs

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900066-4

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%2802%2900066-4

7 January 2021

Denaturing high-performance liquid chromatography: A review

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900066-4

7 January 2021

Abnormalities in the expression of nebulin in chromosome-2 linked nemaline myopathy.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900066-4

7 January 2021

Nebulin expression in patients with nemaline myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900066-4

7 January 2021

Novel dystrophin mutations revealed by analysis of dystrophin mRNA: alternative splicing suppresses the phenotypic effect of a nonsense mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900066-4

7 January 2021

SH3 in muscles: solution structure of the SH3 domain from nebulin

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900066-4

7 January 2021

Distinct families of Z-line targeting modules in the COOH-terminal region of nebulin

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900066-4

7 January 2021

Myopalladin, a novel 145-kilodalton sarcomeric protein with multiple roles in Z-disc and I-band protein assemblies

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900066-4

7 January 2021

10.1016/S0960-8966(02)00066-4

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12207938%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

1 reference