(Q35192308)

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108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15 September 2002, Naarden, The Netherlands

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scholarly article

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Europe PubMed Central

7 August 2017

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Europe PubMed Central

108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15 September 2002, Naarden, The Netherlands (English)

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Europe PubMed Central

7 August 2017

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Emery-Dreifuss muscular dystrophy

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inferred from title

5

object named as

Sue Brown

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Jop H van Berlo

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Jop H van Berlo

19

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Rabah Ben Yaou

2

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Federica Sangiuolo

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Federica Sangiuolo

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Christophe Beroud

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Christophe Béroud

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Giovanna Lattanzi

object named as

Giovanna Lattanzi

10

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Luciano Merlini

object named as

Luciano Merlini

11

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object named as

Gisèle Bonne

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Richard C Trembath

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Richard Trembath

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Giuseppe Boriani

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Giuseppe Boriani

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Francesco Muntoni

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object named as

Francesco Muntoni

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Irena Hausmanowa-Petrusewicz

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object named as

Irena Hausmanowa-Petrusewicz

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Grzegorz Opolski

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object named as

Grzegorz Opolski

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7 August 2017

author name string

Marianne de Visser

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7 August 2017

Denis Duboc

7

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7 August 2017

Juliet Ellis

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Glenn Morris

12

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Yigal M Pinto

15

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Daniela Toniolo

17

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Anneke J van der Kooi

20

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Manfred Wehnert

21

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publication date

1 August 2003

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Neuromuscular Disorders

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13

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508-515

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6

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7 August 2017

Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse

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https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900063-4

7 January 2021

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Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C

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7 January 2021

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A R644C mutation within lamin A extends the mutations causing dilated cardiomyopathy.

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https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900063-4

7 January 2021

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UMD (Universal mutation database): a generic software to build and analyze locus-specific databases

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https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900063-4

7 January 2021

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Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

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https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900063-4

7 January 2021

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82nd ENMC international workshop, 5th international Emery-Dreifuss muscular dystrophy (EDMD) workshop, 1st Workshop of the MYO-CLUSTER project EUROMEN (European muscle envelope nucleopathies), 15-16 September 2000, Naarden, The Netherlands.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900063-4

7 January 2021

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Optimisation of electrotransfer of plasmid into skeletal muscle by pretreatment with hyaluronidase -- increased expression with reduced muscle damage

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900063-4

7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900063-4

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%2803%2900063-4

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%2803%2900063-4

7 January 2021

based on heuristic

inferred from DOI database lookup

A novel interaction between lamin A and SREBP1: implications for partial lipodystrophy and other laminopathies

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900063-4

7 January 2021

based on heuristic

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Identifiers

10.1016/S0960-8966(03)00063-4

1 reference

Europe PubMed Central

7 August 2017

1 reference

Europe PubMed Central

7 August 2017

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