(Q36099205)

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Megalencephalic leukoencephalopathy with subcortical cysts in two siblings owing to two novel mutations: case reports and review of the literature

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Europe PubMed Central

PubMed publication ID

12 August 2017

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Europe PubMed Central

Megalencephalic leukoencephalopathy with subcortical cysts in two siblings owing to two novel mutations: case reports and review of the literature (English)

1 reference

Europe PubMed Central

PubMed publication ID

12 August 2017

megalencephalic leukoencephalopathy with subcortical cysts

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1 reference

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inferred from title

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author name string

Rosario Maria S Riel-Romero

1

1 reference

Europe PubMed Central

PubMed publication ID

12 August 2017

Charles D Smith

2

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Europe PubMed Central

PubMed publication ID

12 August 2017

Anjana L Pettigrew

3

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Europe PubMed Central

PubMed publication ID

12 August 2017

publication date

1 March 2005

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Europe PubMed Central

PubMed publication ID

12 August 2017

Journal of Child Neurology

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Europe PubMed Central

PubMed publication ID

12 August 2017

20

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Europe PubMed Central

PubMed publication ID

12 August 2017

3

1 reference

Europe PubMed Central

PubMed publication ID

12 August 2017

230-234

1 reference

Europe PubMed Central

PubMed publication ID

12 August 2017

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

1 reference

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Vacuolating megalencephalic leukoencephalopathy in 12 Israeli patients

1 reference

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

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Partial seizures in leukoencephalopathy with swelling and a discrepantly mild clinical course

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Slowly progressive cystic leukoencephalopathy with megalencephaly in a Japanese boy.

1 reference

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

1 reference

https://api.crossref.org/works/10.1177%2F088307380502000301

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Megalencephalic leukodystrophy in an Asian Indian ethnic group

1 reference

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

1 reference

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Vacuolating leukoencephalopathy with subcortical cysts with late onset athetotic movements.

1 reference

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

1 reference

https://api.crossref.org/works/10.1177%2F088307380502000301

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Leukoencephalopathy with a mild clinical course: a case report.

1 reference

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Siblings with cystic leukoencephalopathy and megalencephaly.

1 reference

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Epilepsy in vacuolating megalencephalic leukoencephalopathy with subcortical cysts

1 reference

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

1 reference

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21 January 2018

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

1 reference

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

1 reference

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Leukoencephalopathy With Vanishing White Matter: From Magnetic Resonance Imaging Pattern to Five Genes

1 reference

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

1 reference

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

1 reference

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

1 reference

https://api.crossref.org/works/10.1177%2F088307380502000301

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1177%2F088307380502000301

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1177%2F088307380502000301

21 January 2018

Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts

1 reference

https://api.crossref.org/works/10.1177%2F088307380502000301

21 January 2018

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/10.1177%2F088307380502000301

21 January 2018

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

1 reference

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21 January 2018

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https://api.fatcat.wiki/v0/release/6z3l6lstqbdx5dt72ojipz4d7m

30 July 2022

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https://api.fatcat.wiki/v0/release/6z3l6lstqbdx5dt72ojipz4d7m

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