(Q63531531)

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A missense mutation in the exon 8 of lamin A/C gene in a Japanese case of autosomal dominant limb-girdle muscular dystrophy and cardiac conduction block

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11525883%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

A missense mutation in the exon 8 of lamin A/C gene in a Japanese case of autosomal dominant limb-girdle muscular dystrophy and cardiac conduction block (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11525883%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

autosomal dominant limb-girdle muscular dystrophy

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7

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11525883%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

author name string

T Kitaguchi

1

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11525883%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

S Matsubara

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11525883%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

M Sato

3

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10 November 2019

K Miyamoto

4

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10 November 2019

S Hirai

5

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10 November 2019

K Schwartz

6

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10 November 2019

publication date

1 September 2001

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10 November 2019

Neuromuscular Disorders

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11525883%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

11

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10 November 2019

6-7

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10 November 2019

542-546

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11525883%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Emery-Dreifuss muscular dystrophy - a 40 year retrospective

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900207-3

7 January 2021

based on heuristic

inferred from DOI database lookup

A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900207-3

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900207-3

7 January 2021

based on heuristic

inferred from DOI database lookup

Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900207-3

7 January 2021

based on heuristic

inferred from DOI database lookup

European Workshop on Emery-Dreifuss Muscular Dystrophy 1991

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900207-3

7 January 2021

based on heuristic

inferred from DOI database lookup

43rd ENMC International Workshop on Emery-Dreifuss Muscular Dystrophy, 22 June 1996, Naarden, The Netherlands.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900207-3

7 January 2021

based on heuristic

inferred from DOI database lookup

High Incidence of Sudden Death with Conduction System and Myocardial Disease Due to Lamins A and C Gene Mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900207-3

7 January 2021

based on heuristic

inferred from DOI database lookup

Autosomal dominant Emery-Dreifuss dystrophy due to mutations in rod domain of the lamin A/C gene

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900207-3

7 January 2021

based on heuristic

inferred from DOI database lookup

Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900207-3

7 January 2021

based on heuristic

inferred from DOI database lookup

LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900207-3

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900207-3

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900207-3

7 January 2021

based on heuristic

inferred from DOI database lookup

Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900207-3

7 January 2021

based on heuristic

inferred from DOI database lookup

Nuclear proteins and cell death in inherited neuromuscular disease

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900207-3

7 January 2021

based on heuristic

inferred from DOI database lookup

Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900207-3

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/S0960-8966(01)00207-3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11525883%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11525883%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

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