(Q77894566)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11938437%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

title

Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for alpha2 chain of laminin) (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11938437%20AND%20SRC:MED&resulttype=core&format=json

congenital muscular dystrophy

9 December 2019

main subject

1 reference

congenital merosin-deficient muscular dystrophy 1A

inferred from title

1 reference

Valérie Allamand

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11938437%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

Pascale Guicheney

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11938437%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

publication date

1 February 2002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11938437%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

9 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11938437%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

volume

10

1 reference

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9 December 2019

issue

2

1 reference

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9 December 2019

page(s)

91-94

1 reference

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200743

9 December 2019

exact match

0 references

cites work

The Peter Emil Becker Award lecture 1998. The saga of congenital muscular dystrophy.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200743

7 January 2021

Massive muscle cell degeneration in the early stage of merosin-deficient congenital muscular dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200743

7 January 2021

85th ENMC International Workshop on Congenital Muscular Dystrophy. 6th International CMD Workshop. 1st Workshop of the Myo-Cluster Project 'GENRE'. 27-28th October 2000, Naarden, The Netherlands

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200743

7 January 2021

Congenital muscular dystrophy with primary partial laminin alpha2 chain deficiency: molecular study

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200743

7 January 2021

PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200743

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200743

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200743

7 January 2021

Merosin and congenital muscular dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200743

7 January 2021

Animal models for muscular dystrophy: valuable tools for the development of therapies

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200743

7 January 2021

Laminin alpha2 muscular dystrophy: genotype/phenotype studies of 22 patients.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200743

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5200743

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11938437%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

1 reference