Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1. (Q34520165)

2 August 2017

Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1. (English)

1 reference

megalencephalic leukoencephalopathy with subcortical cysts

2 August 2017

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1 reference

6

Gert C Scheper

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2 August 2017

1

P K Ilja Boor

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2 August 2017

Koen de Groot

2

1 reference

2 August 2017

Vlatka Mejaski-Bosnjak

3

1 reference

2 August 2017

Christiana Brenner

4

1 reference

2 August 2017

Marjo S van der Knaap

5

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2 August 2017

Jan C Pronk

7

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2 August 2017

1 June 2006

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2 August 2017

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2 August 2017

27

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2 August 2017

6

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2 August 2017

505-512

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MLC1: a novel protein in distal astroglial processes

2 August 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20332

Indian Agarwal megalencephalic leukodystrophy with cysts is caused by a common MLC1 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20332

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20332

Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20332

Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libyan Jews

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20332

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20332

7 January 2021

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20332

7 January 2021

No missense mutation of WKL1 in a subgroup of probands with schizophrenia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20332

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/10.1002%2FHUMU.20332

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20332

7 January 2021

Is the WKL1 gene associated with schizophrenia?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20332

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/10.1002%2FHUMU.20332

7 January 2021

Association of WKL1/MLC1 with catatonic schizophrenia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20332

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20332

7 January 2021

A novel polymorphism in exon 11 of the WKL1 gene, shows no association with schizophrenia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20332

7 January 2021

A missense mutation in a novel gene encoding a putative cation channel is associated with catatonic schizophrenia in a large pedigree

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20332

7 January 2021

Sequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and schizophrenia allelic disorders?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20332

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/10.1002%2FHUMU.20332

7 January 2021

The brain-specific protein MLC1 implicated in megalencephalic leukoencephalopathy with subcortical cysts is expressed in glial cells in the murine brain.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20332

7 January 2021

Megalencephalic leukodystrophy in an Asian Indian ethnic group

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20332

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20332

7 January 2021

Localization and functional analyses of the MLC1 protein involved in megalencephalic leukoencephalopathy with subcortical cysts

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20332

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20332

7 January 2021

Vacuoliting megalencephalic leukoencephalopathy with subcortical cysts, mapped to chromosome 22qtel

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20332

7 January 2021

A common mutation and a novel mutation in Japanese patients with van der Knaap disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20332

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20332

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20332

7 January 2021

MLC1 gene is associated with schizophrenia and bipolar disorder in Southern India

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20332

7 January 2021

Identifiers

DOI

10.1002/HUMU.20332

1 reference

2 August 2017

1 reference