Clinical and genetic characterization of leukoencephalopathies in adults. - Wikidata - wikimedia - TriplyDB

Clinical and genetic characterization of leukoencephalopathies in adults.

Clinical and genetic characterization of leukoencephalopathies in adults.

http://www.wikidata.org/entity/Q33603852

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'Leukodystrophy-like' phenotype in children with myelin oligodendrocyte glycoprotein antibody-associated disease.Mendelian adult-onset leukodystrophy genes in Alzheimer's disease: critical influence of CSF1R and NOTCH3.

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P2860

Clinical and genetic characterization of leukoencephalopathies in adults.

http://www.wikidata.org/entity/Q33603852

description

2017 nî lūn-bûn

@nan

2017 թուականի Մարտին հրատարակուած գիտական յօդուած

@hyw

2017 թվականի մարտին հրատարակված գիտական հոդված

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2017年の論文

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2017年論文

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2017年論文

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2017年論文

@zh-hk

2017年論文

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2017年論文

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2017年论文

@wuu

name

Clinical and genetic characterization of leukoencephalopathies in adults.

@ast

Clinical and genetic characterization of leukoencephalopathies in adults.

@en

type

label

Clinical and genetic characterization of leukoencephalopathies in adults.

@ast

Clinical and genetic characterization of leukoencephalopathies in adults.

@en

prefLabel

Clinical and genetic characterization of leukoencephalopathies in adults.

@ast

Clinical and genetic characterization of leukoencephalopathies in adults.

@en

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Clinical and genetic characterization of leukoencephalopathies in adults.

@en

P2093

Anderson Rodrigues Brandão de Paiva

http://www.w3.org/2001/XMLSchema#string

Brian Herron

http://www.w3.org/2001/XMLSchema#string

Catherine J Mummery

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David S Lynch

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Deborah Hughes

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Elaine Murphy

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Fernando Freua

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Fernando Kok

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Henry Houlden

http://www.w3.org/2001/XMLSchema#string

Indran Davagnanam

http://www.w3.org/2001/XMLSchema#string

P2860

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

Novel (ovario) leukodystrophy related to AARS2 mutations

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Case definition and classification of leukodystrophies and leukoencephalopathies.

A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies

Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids.

Quantifying the carrier female phenotype in Pelizaeus-Merzbacher disease.

Whole exome sequencing in patients with white matter abnormalities.

Analysis of Mutations in AARS2 in a Series of CSF1R-Negative Patients With Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia.

P304

1204-1211

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scholarly article

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10.1093/BRAIN/AWX045

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5

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140

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Jason D. Warren

Alexander M Rossor

Enrico Bugiardini

Jonathan M Schott

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2017-03-02T00:00:00Z

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28334938

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5405235

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