Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene (Q61647740)

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English	Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene	article

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scholarly article

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Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12015247%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12015247%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Anne M. Bowcock

3

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9 November 2019

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Abhimanyu Garg

1

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9 November 2019

Rebecca A Speckman

2

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9 November 2019

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1 May 2002

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9 November 2019

American Journal of Medicine

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9 November 2019

112

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9 November 2019

7

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9 November 2019

549-555

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9 November 2019

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

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9343%2802%2901070-7

7 January 2021

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%2FS0002-9343%2802%2901070-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9343%2802%2901070-7

7 January 2021

Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9343%2802%2901070-7

7 January 2021

Lamin A/C Gene Mutation Associated With Dilated Cardiomyopathy With Variable Skeletal Muscle Involvement

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9343%2802%2901070-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9343%2802%2901070-7

7 January 2021

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%2FS0002-9343%2802%2901070-7

7 January 2021

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%2FS0002-9343%2802%2901070-7

7 January 2021

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%2FS0002-9343%2802%2901070-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9343%2802%2901070-7

7 January 2021

Emery-Dreifuss syndrome in three generations of females, including identical twins

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9343%2802%2901070-7

7 January 2021

Metabolic studies in familial partial lipodystrophy of the lower trunk and extremities

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9343%2802%2901070-7

7 January 2021

Familial partial lipodystrophy: complications of obesity in the non-obese?

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9343%2802%2901070-7

7 January 2021

Familial partial lipodystrophy: two types of an X linked dominant syndrome, lethal in the hemizygous state

2 references

https://api.crossref.org/works/10.1016%2FS0002-9343%2802%2901070-7

7 January 2021

https://api.crossref.org/works/10.1016%2FS0002-9343%2802%2901070-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Köbberling-Dunnigan syndrome: a rare cause of generalized muscular hypertrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9343%2802%2901070-7

7 January 2021

Dunnigan-Kobberling syndrome: an autosomal dominant form of partial lipodystrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9343%2802%2901070-7

7 January 2021

Pathogenesis of inherited forms of dilated cardiomyopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9343%2802%2901070-7

7 January 2021

Localization of the gene for familial partial lipodystrophy (Dunnigan variety) to chromosome 1q21–22

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9343%2802%2901070-7

7 January 2021

Cardiomyopathy. Diagnosis and management of dilated cardiomyopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9343%2802%2901070-7

7 January 2021

Genetic variation in LMNA modulates plasma leptin and indices of obesity in aboriginal Canadians

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9343%2802%2901070-7

7 January 2021

Premature atherosclerosis associated with monogenic insulin resistance.

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9343%2802%2901070-7

7 January 2021

Lamin A/C gene: sex-determined expression of mutations in Dunnigan-type familial partial lipodystrophy and absence of coding mutations in congenital and acquired generalized lipoatrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9343%2802%2901070-7

7 January 2021

Disruption of nuclear lamin organization blocks the elongation phase of DNA replication

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9343%2802%2901070-7

7 January 2021

The nuclear envelope, muscular dystrophy and gene expression

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9343%2802%2901070-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9343%2802%2901070-7

7 January 2021

Identifiers

10.1016/S0002-9343(02)01070-7

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12015247%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12015247%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

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