Myofiber degeneration in autosomal dominant Emery-Dreifuss muscular dystrophy (AD-EDMD) (LGMD1B). (Q48369359)

11 February 2018

title

Myofiber degeneration in autosomal dominant Emery-Dreifuss muscular dystrophy (AD-EDMD) (LGMD1B). (English)

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Emery-Dreifuss muscular dystrophy

main subject

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based on heuristic

inferred from title

autosomal dominant Emery-Dreifuss muscular dystrophy

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5

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Gisèle Bonne

7

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Michel Mittelbronn

1

object named as

Michel Mittelbronn

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Frank Hanisch

2

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Marc Gleichmann

3

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Mechthild Stötter

4

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Manfred Wehnert

6

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Sabine Rudnik-Schöneborn

8

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Antje Bornemann

9

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publication date

1 October 2006

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published in

Brain Pathology

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volume

16

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issue

4

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page(s)

266-272

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

cites work

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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

21 January 2018

1 reference

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Major myofibrillar changes in early onset myopathy due to de novo heterozygous missense mutation in lamin A/C gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2006.00028.X

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

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2006.00028.X

Lamin A/C and emerin are critical for skeletal muscle satellite cell differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2006.00028.X

A-type lamins: guardians of the soma?

21 January 2018

1 reference

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Cellular adaptation of the trapezius muscle in strength-trained athletes.

21 January 2018

1 reference

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Identification of lamin A/C ( LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B.

21 January 2018

1 reference

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Loss of emerin at the nuclear envelope disrupts the Rb1/E2F and MyoD pathways during muscle regeneration.

21 January 2018

1 reference

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Duchenne dystrophy: Electron microscopic findings pointing to a basic or early abnormality in the plasma membrane of the muscle fiber

21 January 2018

1 reference

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Expression and localization of nuclear proteins in autosomal-dominant Emery-Dreifuss muscular dystrophy with LMNA R377H mutation

21 January 2018

1 reference

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Segmental fibre breakdown and defects of the plasmalemma in diseased human muscles

21 January 2018

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The number of satellite cells in normal human muscle

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The earliest pathologic alterations in dysferlinopathy

21 January 2018

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Nuclear envelopathies--raising the nuclear veil

21 January 2018

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

21 January 2018

1 reference

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Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes

21 January 2018

1 reference

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Nuclear envelope, nuclear lamina, and inherited disease

21 January 2018

1 reference

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Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy: a long-term longitudinal study

21 January 2018

1 reference

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Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations

21 January 2018

1 reference

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10.1111/J.1750-3639.2006.00028.X

21 January 2018

Identifiers

DOI

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11 February 2018

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11 February 2018