(Q30986047)

28 June 2017

title

Megalencephalic leucoencephalopathy with subcortical cysts: a study of a Lebanese family and a review of the literature (English)

1 reference

28 June 2017

0 references

1 reference

Koussa S

1

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28 June 2017

Roukoz H

series ordinal

2

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28 June 2017

Rizk T

series ordinal

3

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28 June 2017

Mégarbané A

series ordinal

4

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28 June 2017

language of work or name

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1 February 2005

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28 June 2017

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28 June 2017

volume

161

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28 June 2017

issue

2

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28 June 2017

page(s)

183-191

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Vacuolating megalencephalic leukoencephalopathy in 12 Israeli patients

28 June 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0035-3787%2805%2985021-0

7 January 2021

Presence of delayed myelination and macrocephaly in the sister of a patient with vacuolating leukoencephalopathy with subcortical cysts

1 reference

https://api.crossref.org/works/10.1016%2FS0035-3787%2805%2985021-0

7 January 2021

N-acetylaspartate is an axon-specific marker of mature white matter in vivo: a biochemical and immunohistochemical study on the rat optic nerve

1 reference

https://api.crossref.org/works/10.1016%2FS0035-3787%2805%2985021-0

7 January 2021

Clinical and genetic heterogeneity in megalencephalic leukoencephalopathy with subcortical cysts (MLC).

1 reference

https://api.crossref.org/works/10.1016%2FS0035-3787%2805%2985021-0

7 January 2021

Megalencephalic leukoencephalopathy with subcortical cysts in an adult: quantitative proton MR spectroscopy and diffusion tensor MRI.

1 reference

https://api.crossref.org/works/10.1016%2FS0035-3787%2805%2985021-0

7 January 2021

[Van Der Knaap syndrome. Megalencephaly with leukodystrophy. Report of 2 cases in the same family]

1 reference

https://api.crossref.org/works/10.1016%2FS0035-3787%2805%2985021-0

7 January 2021

Severe metabolic abnormalities in the white matter of patients with vacuolating megalencephalic leukoencephalopathy with subcortical cysts. A proton MR spectroscopic imaging study

1 reference

https://api.crossref.org/works/10.1016%2FS0035-3787%2805%2985021-0

7 January 2021

Genetic leukoencephalopathies with unknown metabolic pathogenesis

1 reference

https://api.crossref.org/works/10.1016%2FS0035-3787%2805%2985021-0

7 January 2021

Leukoencephalopathy, megalencephaly, and mild clinical course. A recently individualized familial leukodystrophy. Report on five new cases.

1 reference

https://api.crossref.org/works/10.1016%2FS0035-3787%2805%2985021-0

7 January 2021

Choline containing metabolites during cell transfection: an insight into magnetic resonance spectroscopy detectable changes

1 reference

https://api.crossref.org/works/10.1016%2FS0035-3787%2805%2985021-0

7 January 2021

Megalencephaly with dysmyelination, spasticity, ataxia, seizures and distinctive neurophysiological findings in two siblings

1 reference

https://api.crossref.org/works/10.1016%2FS0035-3787%2805%2985021-0

7 January 2021

Alexander disease: a review and the gene

1 reference

https://api.crossref.org/works/10.1016%2FS0035-3787%2805%2985021-0

7 January 2021

Update on genetic disorders affecting white matter

1 reference

https://api.crossref.org/works/10.1016%2FS0035-3787%2805%2985021-0

7 January 2021

Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts

1 reference

https://api.crossref.org/works/10.1016%2FS0035-3787%2805%2985021-0

7 January 2021

Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts

1 reference

https://api.crossref.org/works/10.1016%2FS0035-3787%2805%2985021-0

7 January 2021

Cystic leukoencephalopathy in a megalencephalic child: clinical and magnetic resonance imaging/magnetic resonance spectroscopy findings.

1 reference

https://api.crossref.org/works/10.1016%2FS0035-3787%2805%2985021-0

7 January 2021

Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1

1 reference

https://api.crossref.org/works/10.1016%2FS0035-3787%2805%2985021-0

7 January 2021

Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts

1 reference

https://api.crossref.org/works/10.1016%2FS0035-3787%2805%2985021-0

7 January 2021

A case of megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease): molecular genetic study

1 reference

https://api.crossref.org/works/10.1016%2FS0035-3787%2805%2985021-0

7 January 2021

An update on the leukodsytrophies

1 reference

https://api.crossref.org/works/10.1016%2FS0035-3787%2805%2985021-0

7 January 2021

Proton MR spectroscopy demonstration of taurine peaks in megalencephalic leukoencephalopathy with cysts

1 reference

https://api.crossref.org/works/10.1016%2FS0035-3787%2805%2985021-0

7 January 2021

Megalencephalic leukodystrophy in an Asian Indian ethnic group

1 reference

https://api.crossref.org/works/10.1016%2FS0035-3787%2805%2985021-0

7 January 2021

Megalencephalic Leukoencephalopathy With Subcortical Cysts

1 reference

https://api.crossref.org/works/10.1016%2FS0035-3787%2805%2985021-0

7 January 2021

Infantile-onset megalencephalic leucoencephalopathy in two siblings.

1 reference

https://api.crossref.org/works/10.1016%2FS0035-3787%2805%2985021-0

7 January 2021

The genomic organization of the murine Mlc1 (Wkl1, KIAA0027) gene.

1 reference

https://api.crossref.org/works/10.1016%2FS0035-3787%2805%2985021-0

7 January 2021

Megalencephaly and leukodystrophy with mild clinical course: a report on 12 new cases.

1 reference

https://api.crossref.org/works/10.1016%2FS0035-3787%2805%2985021-0

7 January 2021

Neuroimaging findings in glutaric aciduria type 1

1 reference

https://api.crossref.org/works/10.1016%2FS0035-3787%2805%2985021-0

7 January 2021

Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children

1 reference

https://api.crossref.org/works/10.1016%2FS0035-3787%2805%2985021-0

7 January 2021

Histopathology of an infantile-onset spongiform leukoencephalopathy with a discrepantly mild clinical course.

1 reference

https://api.crossref.org/works/10.1016%2FS0035-3787%2805%2985021-0

7 January 2021

A new leukoencephalopathy with vanishing white matter.

1 reference

https://api.crossref.org/works/10.1016%2FS0035-3787%2805%2985021-0

7 January 2021

Defining and categorizing leukoencephalopathies of unknown origin: MR imaging approach

1 reference

https://api.crossref.org/works/10.1016%2FS0035-3787%2805%2985021-0

7 January 2021

10.1016/S0035-3787(05)85021-0

Identifiers

DOI

1 reference

release_wqix22ehl5ghligxamfaumzkja

28 June 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/wqix22ehl5ghligxamfaumzkja

24 November 2022

mapped directly with Wikidata item

1 reference