(Q24535942)

English

Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan

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scholarly article

1 reference

Europe PubMed Central

4 July 2017

Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan (English)

1 reference

Europe PubMed Central

4 July 2017

congenital disorder

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1 reference

based on heuristic

inferred from title

congenital muscular dystrophy

1 reference

based on heuristic

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7

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Europe PubMed Central

4 July 2017

4

object named as

S C Brown

1 reference

Europe PubMed Central

4 July 2017

Pascale Guicheney

object named as

P Guicheney

13

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author name string

M Brockington

1

1 reference

Europe PubMed Central

4 July 2017

D J Blake

2

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Europe PubMed Central

4 July 2017

P Prandini

3

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Europe PubMed Central

4 July 2017

S Torelli

5

1 reference

Europe PubMed Central

4 July 2017

M A Benson

6

1 reference

Europe PubMed Central

4 July 2017

B Estournet

8

1 reference

Europe PubMed Central

4 July 2017

N B Romero

9

1 reference

Europe PubMed Central

4 July 2017

E Mercuri

10

1 reference

Europe PubMed Central

4 July 2017

T Voit

11

1 reference

Europe PubMed Central

4 July 2017

C A Sewry

12

1 reference

Europe PubMed Central

4 July 2017

F Muntoni

14

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Europe PubMed Central

4 July 2017

language of work or name

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publication date

8 October 2001

1 reference

Europe PubMed Central

4 July 2017

American Journal of Human Genetics

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Europe PubMed Central

4 July 2017

69

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Europe PubMed Central

4 July 2017

1198-1209

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Europe PubMed Central

4 July 2017

6

1 reference

Europe PubMed Central

4 July 2017

Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235559

24 March 2017

Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235559

24 March 2017

An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235559

24 March 2017

Mutations in the integrin alpha7 gene cause congenital myopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235559

24 March 2017

Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235559

24 March 2017

Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235559

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235559

24 March 2017

Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235559

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235559

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235559

24 March 2017

Membrane organization of the dystrophin-glycoprotein complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235559

7 April 2017

Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235559

27 September 2017

Structure/function studies of glycosyltransferases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235559

27 September 2017

Dystroglycan inside and out.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235559

27 September 2017

alpha-Dystroglycan is a laminin receptor involved in extracellular matrix assembly on myotubes and muscle cell viability.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235559

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235559

27 September 2017

Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235559

30 May 2018

Electron microscopic examination of basal lamina in Fukuyama congenital muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235559

30 May 2018

Abnormal localization of laminin subunits in muscular dystrophies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235559

30 May 2018

Congenital muscular dystrophy with secondary merosin deficiency and normal brain MRI: a novel entity?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235559

29 November 2018

Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts unlinked to the LAMA2, FCMD and MEB loci.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235559

29 November 2018

Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235559

29 November 2018

68th ENMC international workshop (5th international workshop): On congenital muscular dystrophy, 9-11 April 1999, Naarden, The Netherlands.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235559

29 November 2018

Dystroglycan in development and disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235559

29 November 2018

Localization of proteins to the Golgi apparatus.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235559

29 November 2018

Phenotypic and pathologic evaluation of the myd mouse. A candidate model for facioscapulohumeral dystrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235559

29 November 2018

The fukutin protein family--predicted enzymes modifying cell-surface molecules

1 reference

https://pubmed.ncbi.nlm.nih.gov/11592034

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neural regulation of alpha-dystroglycan biosynthesis and glycosylation in skeletal muscle

1 reference

https://pubmed.ncbi.nlm.nih.gov/11592034

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biosynthesis of dystroglycan: processing of a precursor propeptide

1 reference

https://pubmed.ncbi.nlm.nih.gov/11592034

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/11592034

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

50th ENMC International Workshop: congenital muscular dystrophy. 28 February 1997 to 2 March 1997, Naarden, The Netherlands

1 reference

https://pubmed.ncbi.nlm.nih.gov/11592034

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An early onset muscular dystrophy with diaphragmatic involvement, early respiratory failure and secondary alpha2 laminin deficiency unlinked to the LAMA2 locus on 6q22

1 reference

https://pubmed.ncbi.nlm.nih.gov/11592034

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital progressive muscular dystrophy of the Fukuyama type - clinical, genetic and pathological considerations

1 reference

https://pubmed.ncbi.nlm.nih.gov/11592034

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

22nd ENMC sponsored workshop on congenital muscular dystrophy held in Baarn, The Netherlands, 14-16 May 1993

1 reference

https://pubmed.ncbi.nlm.nih.gov/11592034

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital muscular dystrophy with merosin deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/11592034

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy

1 reference

https://pubmed.ncbi.nlm.nih.gov/11592034

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Muscle-eye-brain disease: a neuropathological study

1 reference

https://pubmed.ncbi.nlm.nih.gov/11592034

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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Europe PubMed Central

4 July 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Europe PubMed Central

4 July 2017

1 reference

Europe PubMed Central

4 July 2017

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