(Q33680683)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9610800%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

title

Abnormalities of dystrophin, the sarcoglycans, and laminin alpha2 in the muscular dystrophies (English)

1 reference

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12 November 2019

3

1 reference

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12 November 2019

author name string

K J Jones

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9610800%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

S S Kim

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9610800%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

language of work or name

English

0 references

publication date

1 May 1998

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9610800%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

12 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9610800%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

volume

35

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9610800%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9610800%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

page(s)

379-386

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9610800%20AND%20SRC:MED&resulttype=core&format=json

Magnetic resonance imaging in classification of congenital muscular dystrophies with brain abnormalities.

12 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051311

Refinement of the laminin alpha2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051311

Mutations in the sarcoglycan genes in patients with myopathy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051311

The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051311

Congenital muscular dystrophy with laminin alpha 2 chain deficiency: identification of a new intermediate phenotype and correlation of clinical findings to muscle immunohistochemistry.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051311

Estimate of severe autosomal recessive limb-girdle muscular dystrophy (LGMD2C, LGMD2D) among sporadic muscular dystrophy males: a study of 415 familes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051311

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051311

The frequency of patients with 50-kd dystrophin-associated glycoprotein (50DAG or adhalin) deficiency in a muscular dystrophy patient population in Japan: immunocytochemical analysis of 50DAG, 43DAG, dystrophin, and utrophin

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051311

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051311

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051311

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051311

Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051311

Late onset muscular dystrophy with cerebral white matter changes due to partial merosin deficiency.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051311

Muscular dystrophy associated with ?-dystroglycan deficiency

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051311

Congenital muscular dystrophy with merosin deficiency

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051311

Proceedings of the 27th ENMC sponsored workshop on congenital muscular dystrophy. 22-24 April 1994, The Netherlands

10 December 2018

1 reference

12 December 2020

Microassay for proteins on nitrocellulose filter using protein dye-staining procedure

1 reference

12 December 2020

Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy

1 reference

12 December 2020

Screening of male patients with autosomal recessive Duchenne dystrophy through dystrophin and DNA studies

1 reference

12 December 2020

Familial concordance of brain magnetic resonance imaging changes in congenital muscular dystrophy

1 reference

12 December 2020

Clinical phenotype in congenital muscular dystrophy: correlation with expression of merosin in skeletal muscle

1 reference

12 December 2020

Clinical heterogeneity of adhalin deficiency

1 reference

12 December 2020

Deficiency of a skeletal muscle isoform of α-actinin (α-actinin-3) in merosin-positive congenital muscular dystrophy

1 reference

12 December 2020

41st ENMC International Workshop on Congenital Muscular Dystrophy 8-10 March 1996, Naarden, The Netherlands

1 reference

12 December 2020

Mild clinical phenotype in a 12-year-old boy with partial merosin deficiency and central and peripheral nervous system abnormalities

1 reference

12 December 2020

Abnormalities in alpha-, beta- and gamma-sarcoglycan in patients with limb-girdle muscular dystrophy

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.35.5.379

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9610800%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9610800%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

1 reference