(Q45226643)

11 December 2017

title

Congenital muscular dystrophy in Arab children (English)

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congenital muscular dystrophy

11 December 2017

main subject

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Yousif K R Habeeb

1

1 reference

11 December 2017

Maliha A Al-Bloushi

2

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11 December 2017

Eman S Al-Jumah

3

1 reference

11 December 2017

Thomas M De Souza

4

1 reference

11 December 2017

Allie Moosa

5

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11 December 2017

publication date

1 May 2006

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Journal of Child Neurology

11 December 2017

published in

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11 December 2017

volume

21

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11 December 2017

issue

5

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11 December 2017

page(s)

400-405

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

11 December 2017

cites work

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210050701

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210050701

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210050701

Merosin-positive congenital muscular dystrophy with mental retardation, microcephaly and central nervous system abnormalities unlinked to the Fukuyama muscular dystrophy and muscular-eye-brain loci: report of three siblings

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210050701

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210050701

Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210050701

Cognitive abilities in children with congenital muscular dystrophy: correlation with brain MRI and merosin status.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210050701

Variable clinical phenotype in merosin-deficient congenital muscular dystrophy associated with differential immunolabelling of two fragments of the laminin alpha 2 chain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210050701

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210050701

Magnetic resonance imaging in classification of congenital muscular dystrophies with brain abnormalities.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210050701

Congenital muscular dystrophy, white-matter abnormalities, and neuronal migration disorders: the expanding concept

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210050701

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210050701

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210050701

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210050701

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210050701

Sequential study of central and peripheral nervous system involvement in an infant with merosin-deficient congenital muscular dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210050701

Dysmyelinating sensory-motor neuropathy in merosin-deficient congenital muscular dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210050701

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210050701

Severe progressive form of congenital muscular dystrophy with calf pseudohypertrophy, macroglossia and respiratory insufficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210050701

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210050701

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210050701

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210050701

10.1177/08830738060210050701

21 January 2018

Identifiers

DOI

0 references

1 reference