(Q47959513)

7 February 2018

title

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

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7 February 2018

Severe mental retardation

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1 reference

congenital muscular dystrophy

inferred from title

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9

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7 February 2018

author name string

Topaloğlu H

1

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7 February 2018

Talim B

2

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7 February 2018

Vignier N

3

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7 February 2018

Helbling-Leclerc AH

4

1 reference

7 February 2018

Yetük M

5

1 reference

7 February 2018

Afşin IE

6

1 reference

7 February 2018

Cağlar M

7

1 reference

7 February 2018

Kale G

8

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7 February 2018

publication date

1 May 1998

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7 February 2018

published in

Neuromuscular Disorders

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7 February 2018

volume

8

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7 February 2018

issue

3-4

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7 February 2018

page(s)

169-174

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7 February 2018

Congenital Muscular Dystrophy: A Clinico-Pathological and Follow-Up Study of 15 Patients

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900013-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900013-3

7 January 2021

Congenital muscular dystrophy: a clinicopathologic report of 24 cases

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900013-3

7 January 2021

Diagnostic criteria for Walker-Warburg syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900013-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900013-3

7 January 2021

Congenital muscular dystrophy associated with familial junctional epidermolysis bullosa letalis

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900013-3

7 January 2021

A case of Ullrich's disease (Kongenitale, Atonisch-Sklerotische Muskeldystrophie)

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900013-3

7 January 2021

Analysis of "pure" congenital muscular dystrophies in thirty-eight cases. How different is the classical type 1 from the occidental type cerebromuscular dystrophy?

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900013-3

7 January 2021

Expression of laminin subunits in congenital muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900013-3

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%2898%2900013-3

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%2900013-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900013-3

7 January 2021

Mild congenital muscular dystrophy in two patients with an internally deleted laminin alpha2-chain

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900013-3

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%2900013-3

7 January 2021

Abnormal localization of laminin subunits in muscular dystrophies

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900013-3

7 January 2021

Muscle-eye-brain disease: a neuropathological study

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900013-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900013-3

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%2900013-3

7 January 2021

Laminin-alpha 2 chain (merosin M) is preserved in the Walker-Warburg syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900013-3

7 January 2021

A comprehensive genetic map of the human genome based on 5,264 microsatellites

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900013-3

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%2900013-3

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%2900013-3

7 January 2021

Congenital muscular dystrophy with severe retrocollis and mental retardation: a report of two siblings

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900013-3

7 January 2021

10.1016/S0960-8966(98)00013-3

Identifiers

DOI

1 reference

7 February 2018

1 reference

7 February 2018