Myopathies with early contractures (Q82029853)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18808994%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

title

Myopathies with early contractures (English)

1 reference

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14 January 2020

author name string

Marianne de Visser

series ordinal

1

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14 January 2020

publication date

1 January 2007

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18808994%20AND%20SRC:MED&resulttype=core&format=json

Handbook of clinical neurology / edited by P.J. Vinken and G.W. Bruyn

14 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18808994%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

volume

86

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14 January 2020

page(s)

35-59

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Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for alpha2 chain of laminin)

14 January 2020

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Molecular diagnosis in LGMD2A: mutation analysis or protein testing?

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Emerin expression in early development of Xenopus laevis

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Homozygous microdeletion of chromosome 4q11-q12 causes severe limb-girdle muscular dystrophy type 2E with joint hyperlaxity and contractures

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Amelioration of laminin-alpha2-deficient congenital muscular dystrophy by somatic gene transfer of miniagrin

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Presentation, clinical course, and outcome of the congenital form of myotonic dystrophy

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Aberrant neuronal migration in the brainstem of fukuyama-type congenital muscular dystrophy

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Altered glycosylation of alpha-dystroglycan in neurons of Fukuyama congenital muscular dystrophy brains

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High incidence of sudden cardiac death with conduction disturbances and atrial cardiomyopathy caused by a nonsense mutation in the STA gene.

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Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype

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7 January 2021

AAEM news and comments

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Diagnosis of merosin (laminin-2) deficient congenital muscular dystrophy by skin biopsy

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Variable clinical phenotype in merosin-deficient congenital muscular dystrophy associated with differential immunolabelling of two fragments of the laminin alpha 2 chain

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

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A new mutation of the fukutin gene in a non-Japanese patient

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Emerin deletions occurring on both Xq28 inversion backgrounds

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Nuclear envelopathies--raising the nuclear veil

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Benign muscular dystrophy with autosomal dominant inheritance

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Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37

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Emerin increase in regenerating muscle fibers

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A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21.

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

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Fukutin is required for maintenance of muscle integrity, cortical histiogenesis and normal eye development

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Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death?

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https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2986002-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2986002-7

7 January 2021

Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2986002-7

7 January 2021

The lethal phenotype of a homozygous nonsense mutation in the lamin A/C gene

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2986002-7

7 January 2021

Glyc-O-genetics of Walker-Warburg syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2986002-7

7 January 2021

POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2986002-7

7 January 2021

Can clinical signs identify newborns with neuromuscular disorders?

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2986002-7

7 January 2021

117th ENMC workshop: ventilatory support in congenital neuromuscular disorders -- congenital myopathies, congenital muscular dystrophies, congenital myotonic dystrophy and SMA (II) 4-6 April 2003, Naarden, The Netherlands

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2986002-7

7 January 2021

60th ENMC International Workshop: non X-linked Emery-Dreifuss Muscular Dystrophy 5-7 June 1998, Naarden, The Netherlands

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2986002-7

7 January 2021

European Workshop on Emery-Dreifuss Muscular Dystrophy 1991

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2986002-7

7 January 2021

The Emery-Dreifuss Muscular Dystrophy Mutation Database

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2986002-7

7 January 2021

Barrier-to-autointegration factor (BAF) bridges DNA in a discrete, higher-order nucleoprotein complex

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2986002-7

7 January 2021

Sudden death of a carrier of X-linked Emery-Dreifuss muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2986002-7

7 January 2021

Mutant glycosyltransferase and altered glycosylation of alpha-dystroglycan in the myodystrophy mouse

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2986002-7

7 January 2021

Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2986002-7

7 January 2021

Collagen VI involvement in Ullrich syndrome: a clinical, genetic, and immunohistochemical study

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2986002-7

7 January 2021

Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2986002-7

7 January 2021

Autosomal dominant limb-girdle muscular dystrophy with ankle joint contracture

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2986002-7

7 January 2021

10.1016/S0072-9752(07)86002-7

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18808994%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

1 reference