(Q28269213)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9565988%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

title

Beta-sarcoglycan: genomic analysis and identification of a novel missense mutation in the LGMD2E Amish isolate (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9565988%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

0 references

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9565988%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

Jacques S Beckmann

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9565988%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

Kevin P Campbell

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9565988%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

author name string

F Duclos

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9565988%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

O Broux

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9565988%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

N Bourg

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9565988%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

V Straub

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9565988%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

G L Feldman

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9565988%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

Y Sunada

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9565988%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

L E Lim

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9565988%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

F Piccolo

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9565988%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

S Cutshall

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9565988%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

F Gary

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9565988%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

J C Kaplan

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9565988%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

C E Jackson

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9565988%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

language of work or name

English

0 references

publication date

1 February 1998

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9565988%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

published in

Neuromuscular Disorders

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9565988%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

volume

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9565988%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9565988%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

page(s)

30-38

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9565988%20AND%20SRC:MED&resulttype=core&format=json

Association of dystrophin and an integral membrane glycoprotein.

11 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900135-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900135-1

7 January 2021

Glycoprotein complex anchoring dystrophin to sarcolemma

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900135-1

7 January 2021

Membrane organization of the dystrophin-glycoprotein complex

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900135-1

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/10.1016%2FS0960-8966%2897%2900135-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900135-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900135-1

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%2FS0960-8966%2897%2900135-1

7 January 2021

Dystrophin: the protein product of the Duchenne muscular dystrophy locus

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900135-1

7 January 2021

Absence of gamma-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900135-1

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%2FS0960-8966%2897%2900135-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900135-1

7 January 2021

Dystrophin abnormalities in Duchenne/Becker muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900135-1

7 January 2021

Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900135-1

7 January 2021

Mild congenital muscular dystrophy in two patients with an internally deleted laminin alpha2-chain

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900135-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900135-1

7 January 2021

Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900135-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900135-1

7 January 2021

β–sarcoglycan: characterization and role in limb–girdle muscular dystrophy linked to 4q12

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900135-1

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/10.1016%2FS0960-8966%2897%2900135-1

7 January 2021

Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900135-1

7 January 2021

Characterization of delta-sarcoglycan, a novel component of the oligomeric sarcoglycan complex involved in limb-girdle muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900135-1

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%2FS0960-8966%2897%2900135-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900135-1

7 January 2021

Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E)

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900135-1

7 January 2021

Mutations in the sarcoglycan genes in patients with myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900135-1

7 January 2021

Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D)

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900135-1

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/10.1016%2FS0960-8966%2897%2900135-1

7 January 2021

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900135-1

7 January 2021

Sequences responsible for intracellular localization of beta-actin messenger RNA also affect cell phenotype

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900135-1

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%2FS0960-8966%2897%2900135-1

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/10.1016%2FS0960-8966%2897%2900135-1

7 January 2021

Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900135-1

7 January 2021

Identification of the Syrian hamster cardiomyopathy gene.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900135-1

7 January 2021

10.1016/S0960-8966(97)00135-1

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9565988%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

1 reference