(Q51972714)

19 April 2018

title

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

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19 April 2018

congenital muscular dystrophy

main subject

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3

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19 April 2018

Pascale Guicheney

10

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19 April 2018

author name string

Talim B

1

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19 April 2018

Ferreiro A

2

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19 April 2018

Vignier N

4

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19 April 2018

Oto A

5

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19 April 2018

Göğüş S

6

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19 April 2018

Cila A

7

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19 April 2018

Lehesjoki AE

8

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19 April 2018

Pihko H

9

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19 April 2018

Topaloğlu H

11

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19 April 2018

publication date

1 December 2000

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19 April 2018

published in

Neuromuscular Disorders

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19 April 2018

volume

10

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19 April 2018

issue

8

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19 April 2018

page(s)

548-552

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19 April 2018

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

cites work

1 reference

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7 January 2021

Congenital muscular dystrophies: 1997 update

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7 January 2021

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

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900140-1

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%2800%2900140-1

7 January 2021

Abnormal localization of laminin subunits in muscular dystrophies

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900140-1

7 January 2021

Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900140-1

7 January 2021

An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900140-1

7 January 2021

Muscle-eye-brain disease: a neuropathological study

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900140-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900140-1

7 January 2021

Merosin positive congenital muscular dystrophy with severe involvement of the central nervous system.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900140-1

7 January 2021

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://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900140-1

7 January 2021

Merosin-deficient congenital muscular dystrophy with severe mental retardation and normal cranial MRI: a report of two siblings

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https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900140-1

7 January 2021

Expression of laminin subunits in congenital muscular dystrophy

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https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900140-1

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/10.1016%2FS0960-8966%2800%2900140-1

7 January 2021

Merosin-negative congenital muscular dystrophy associated with extensive brain abnormalities

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900140-1

7 January 2021

Congenital muscular dystrophy with complete laminin-alpha2-deficiency, cortical dysplasia, and cerebral white-matter changes in children

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900140-1

7 January 2021

Merosin-deficient congenital muscular dystrophy associated with abnormal cerebral cortical gyration: an autopsy study

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900140-1

7 January 2021

Merosin-negative congenital muscular dystrophy, occipital epilepsy with periodic spasms and focal cortical dysplasia. Report of three Italian cases in two families.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900140-1

7 January 2021

Merosin-deficient congenital muscular dystrophy: the spectrum of brain involvement on magnetic resonance imaging

1 reference

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7 January 2021

Molecular genetic evidence of clinical heterogeneity in Fukuyama-type congenital muscular dystrophy.

1 reference

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7 January 2021

Divergence of central nervous system involvement in 2 Italian sisters with congenital muscular dystrophy: a clinical and neuroradiological follow-up

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900140-1

7 January 2021

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://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900140-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900140-1

7 January 2021

10.1016/S0960-8966(00)00140-1

Identifiers

DOI

1 reference

19 April 2018

1 reference

19 April 2018