Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy (Q24317764)

GOA release 2020-03-11

muscle contraction

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GOA release 2020-03-11

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S L Roberds

1

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author name string

F Leturcq

2

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V Allamand

3

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F Piccolo

4

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M Jeanpierre

5

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R D Anderson

6

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L E Lim

7

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J C Lee

8

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F M Tomé

9

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N B Romero

Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia

10

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language of work or name

English

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publication date

26 August 1994

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published in

Cell

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volume

78

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issue

4

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page(s)

625-33

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cites work

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2894%2990527-4

7 January 2021

Expression of utrophin (dystrophin-related protein) and dystrophin-associated glycoproteins in muscles from patients with Duchenne muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2894%2990527-4

7 January 2021

Defective association of dystrophin with sarcolemmal glycoproteins in the cardiomyopathic hamster heart

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2894%2990527-4

7 January 2021

Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2894%2990527-4

7 January 2021

Membrane organization of the dystrophin-glycoprotein complex

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2894%2990527-4

7 January 2021

Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2894%2990527-4

7 January 2021

A role for dystrophin-associated glycoproteins and utrophin in agrin-induced AChR clustering

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2894%2990527-4

7 January 2021

Dystroglycan-alpha, a dystrophin-associated glycoprotein, is a functional agrin receptor

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2894%2990527-4

7 January 2021

Two forms of mouse syntrophin, a 58 kd dystrophin-associated protein, differ in primary structure and tissue distribution.

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2894%2990527-4

7 January 2021

Identification and purification of an agrin receptor from Torpedo postsynaptic membranes: a heteromeric complex related to the dystroglycans

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2894%2990527-4

7 January 2021

Selective defect in dystrophin-associated glycoproteins 50DAG (A2) and 35DAG (A4) in the dystrophic hamster: an animal model for severe childhood autosomal recessive muscular dystrophy (SCARMD)

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2894%2990527-4

7 January 2021

Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2894%2990527-4

7 January 2021

Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2894%2990527-4

7 January 2021

Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2894%2990527-4

7 January 2021

A second-generation linkage map of the human genome

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2894%2990527-4

7 January 2021

Association of dystrophin-related protein with dystrophin-associated proteins in mdx mouse muscle

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2894%2990527-4

7 January 2021

Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q.

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2894%2990527-4

7 January 2021

Dystrophin-glycoprotein complex is highly enriched in isolated skeletal muscle sarcolemma

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2894%2990527-4

7 January 2021

Dystrophin-associated proteins are greatly reduced in skeletal muscle from mdx mice

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2894%2990527-4

7 January 2021

Analysis of the actin-binding domain of alpha-actinin by mutagenesis and demonstration that dystrophin contains a functionally homologous domain

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2894%2990527-4

7 January 2021

A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin.

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2894%2990527-4

7 January 2021

Human dystroglycan: skeletal muscle cDNA, genomic structure, origin of tissue specific isoforms and chromosomal localization

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2894%2990527-4

7 January 2021

Genetic heterogeneity for Duchenne-like muscular dystrophy (DLMD) based on linkage and 50 DAG analysis.

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2894%2990527-4

7 January 2021

Novel alleles, hemizygosity and deletions at an Alu-repeat within the neurofibromatosis type 1 (NF1) gene

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2894%2990527-4

7 January 2021

Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2894%2990527-4

7 January 2021

Mapping of a chromosome 15 region involved in limb girdle muscular dystrophy.

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2894%2990527-4

7 January 2021

A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2894%2990527-4

7 January 2021

Glycoprotein complex anchoring dystrophin to sarcolemma

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2894%2990527-4

7 January 2021

Severe autosomal recessive muscular dystrophy in an extended Sudanese kindred.

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2894%2990527-4

7 January 2021

Predicting coiled coils from protein sequences

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2894%2990527-4

7 January 2021

Evidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage analysis with 15q probes in Brazilian families

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2894%2990527-4

7 January 2021

Linkage analysis of families with severe childhood autosomal recessive muscular dystrophy in Morocco indicates genetic homogeneity of the disease in north Africa

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2894%2990527-4

7 January 2021

Abnormal expression of laminin suggests disturbance of sarcolemma-extracellular matrix interaction in Japanese patients with autosomal recessive muscular dystrophy deficient in adhalin.

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2894%2990527-4

7 January 2021

Presence of normal dystrophin in Tunisian severe childhood autosomal recessive muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2894%2990527-4

7 January 2021

Duchenne muscular dystrophy: deficiency of dystrophin-associated proteins in the sarcolemma

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2894%2990527-4

7 January 2021