(Q24312878)

limb-girdle muscular dystrophy

GOA release 2020-03-11

1 reference

L E Lim

1

0 references

F Duclos

2

0 references

O Broux

3

0 references

N Bourg

4

0 references

Y Sunada

5

0 references

V Allamand

6

0 references

J Meyer

7

0 references

I Richard

8

0 references

C Moomaw

9

0 references

C Slaughter

https://scigraph.springernature.com/pub.10.1038/ng1195-257

10

0 references

language of work or name

English

0 references

publication date

November 1995

0 references

published in

Nature Genetics

0 references

volume

11

0 references

page(s)

257-65

0 references

issue

3

0 references

exact match

0 references

cites work

Association of dystrophin and an integral membrane glycoprotein.

1 reference

https://api.crossref.org/works/10.1038%2FNG1195-257

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1195-257

7 January 2021

Glycoprotein complex anchoring dystrophin to sarcolemma

1 reference

https://api.crossref.org/works/10.1038%2FNG1195-257

7 January 2021

Membrane organization of the dystrophin-glycoprotein complex

1 reference

https://api.crossref.org/works/10.1038%2FNG1195-257

7 January 2021

Dystrophin: the protein product of the Duchenne muscular dystrophy locus

1 reference

https://api.crossref.org/works/10.1038%2FNG1195-257

7 January 2021

The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein

1 reference

https://api.crossref.org/works/10.1038%2FNG1195-257

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/10.1038%2FNG1195-257

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/10.1038%2FNG1195-257

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1195-257

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/10.1038%2FNG1195-257

7 January 2021

Three muscular dystrophies: loss of cytoskeleton-extracellular matrix linkage.

1 reference

https://api.crossref.org/works/10.1038%2FNG1195-257

7 January 2021

Dystrophin abnormalities in Duchenne/Becker muscular dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FNG1195-257

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1195-257

7 January 2021

Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity

1 reference

https://api.crossref.org/works/10.1038%2FNG1195-257

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1195-257

7 January 2021

Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping

1 reference

https://api.crossref.org/works/10.1038%2FNG1195-257

7 January 2021

On the classification, natural history and treatment of the myopathies.

1 reference

https://api.crossref.org/works/10.1038%2FNG1195-257

7 January 2021

Population frequencies of inherited neuromuscular diseases—A world survey

1 reference

https://api.crossref.org/works/10.1038%2FNG1195-257

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1195-257

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/10.1038%2FNG1195-257

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/10.1038%2FNG1195-257

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1195-257

7 January 2021

Genetic heterogeneity of autosomal recessive limbgirdle muscular dystrophy in a genetic isolate (Amish) and evidence for a new locus

1 reference

https://api.crossref.org/works/10.1038%2FNG1195-257

7 January 2021

Selective defect of sarcoglycan complex in severe childhood autosomal recessive muscular dystrophy muscle

1 reference

https://api.crossref.org/works/10.1038%2FNG1195-257

7 January 2021

Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex

1 reference

https://api.crossref.org/works/10.1038%2FNG1195-257

7 January 2021

Basic local alignment search tool

1 reference

https://api.crossref.org/works/10.1038%2FNG1195-257

7 January 2021

Construction and characterization of a normalized cDNA library

1 reference

https://api.crossref.org/works/10.1038%2FNG1195-257

7 January 2021

Genetic and physical maps of human chromosome 4 based on dinucleotide repeats

1 reference

https://api.crossref.org/works/10.1038%2FNG1195-257

7 January 2021

The 1993-94 Généthon human genetic linkage map

1 reference

https://api.crossref.org/works/10.1038%2FNG1195-257

7 January 2021

Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

1 reference

https://api.crossref.org/works/10.1038%2FNG1195-257

7 January 2021

A first-generation physical map of the human genome

1 reference

https://api.crossref.org/works/10.1038%2FNG1195-257

7 January 2021

'Touchdown' PCR to circumvent spurious priming during gene amplification

1 reference

https://api.crossref.org/works/10.1038%2FNG1195-257

7 January 2021

Dissociation of the complex of dystrophin and its associated proteins into several unique groups by n-octyl beta-D-glucoside

1 reference

https://api.crossref.org/works/10.1038%2FNG1195-257

7 January 2021

Adhalin mRNA and cDNA sequence are normal in the cardiomyopathic hamster.

1 reference

https://api.crossref.org/works/10.1038%2FNG1195-257

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1195-257

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1195-257

7 January 2021

Single-step purification of polypeptides expressed in Escherichia coli as fusions with glutathione S-transferase

1 reference

https://api.crossref.org/works/10.1038%2FNG1195-257

7 January 2021

Identification of novel proteins unique to either transverse tubules (TS28) or the sarcolemma (SL50) in rabbit skeletal muscle

1 reference

https://api.crossref.org/works/10.1038%2FNG1195-257

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1195-257

7 January 2021

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

1 reference

https://api.crossref.org/works/10.1038%2FNG1195-257

7 January 2021

Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: procedure and some applications

1 reference

https://api.crossref.org/works/10.1038%2FNG1195-257

7 January 2021

Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island

1 reference

https://api.crossref.org/works/10.1038%2FNG1195-257

7 January 2021

A comprehensive human linkage map with centimorgan density. Cooperative Human Linkage Center (CHLC)

1 reference

https://api.crossref.org/works/10.1038%2FNG1195-257

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1195-257

7 January 2021