(Q48224272)

9 February 2018

title

Merosin-positive congenital muscular dystrophy with transient brain dysmyelination, pontocerebellar hypoplasia and mental retardation. (English)

1 reference

9 February 2018

congenital muscular dystrophy

main subject

1 reference

Voit T

1

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9 February 2018

Cohn RD

2

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9 February 2018

Sperner J

3

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9 February 2018

Leube B

4

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9 February 2018

Sorokin L

5

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9 February 2018

Toda T

6

1 reference

9 February 2018

Herrmann R

7

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9 February 2018

publication date

1 March 1999

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9 February 2018

published in

Neuromuscular Disorders

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9 February 2018

volume

9

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9 February 2018

issue

2

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9 February 2018

page(s)

95-101

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9 February 2018

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

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900091-1

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%2898%2900091-1

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%2898%2900091-1

7 January 2021

An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

1 reference

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7 January 2021

Heterogeneity of congenital retinal non-attachment, falciform folds and retinal dysplasia. A guide to genetic counselling

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7 January 2021

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900091-1

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7 January 2021

Syndromes with lissencephaly. II: Walker-Warburg and cerebro-oculo-muscular syndromes and a new syndrome with type II lissencephaly

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900091-1

7 January 2021

Preserved merosin M-chain (or laminin-alpha 2) expression in skeletal muscle distinguishes Walker-Warburg syndrome from Fukuyama muscular dystrophy and merosin-deficient congenital muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900091-1

7 January 2021

Muscle-eye-brain disease: a neuropathological study

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900091-1

7 January 2021

Muscle-eye-brain disease and Fukuyama type congenital muscular dystrophy are not allelic.

1 reference

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7 January 2021

Kongenitale, atonisch-sklerotische Muskeldystrophie, ein weiterer Typus der heredodegenerativen Erkrankungen des neuromuskulären Systems

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900091-1

7 January 2021

Congenital muscular dystrophy and cerebellar vermis agenesis in two brothers

1 reference

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7 January 2021

Congenital Muscular Dystrophy with Cerebellar Atrophy

1 reference

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7 January 2021

Abnormal localization of laminin subunits in muscular dystrophies

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Congenital muscular dystrophies: 1997 update

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900091-1

7 January 2021

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

1 reference

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7 January 2021

Laminin alpha2 chain-deficient congenital muscular dystrophy: variable epitope expression in severe and mild cases

1 reference

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7 January 2021

Neurosensory hearing loss in secondary adhalinopathy.

1 reference

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7 January 2021

YAC and cosmid contigs encompassing the Fukuyama-type congenital muscular dystrophy (FCMD) candidate region on 9q31.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900091-1

7 January 2021

Strategies for multilocus linkage analysis in humans

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900091-1

7 January 2021

Changes of laminin beta 2 chain expression in congenital muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900091-1

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%2898%2900091-1

7 January 2021

Merosin positive congenital muscular dystrophy with mental deficiency, epilepsy and MRI changes in the cerebral white matter.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900091-1

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%2898%2900091-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900091-1

7 January 2021

10.1016/S0960-8966(98)00091-1

Identifiers

DOI

1 reference

9 February 2018

1 reference

9 February 2018