Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations. - Wikidata - awgldk - TriplyDB

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.

http://www.wikidata.org/entity/Q34591305

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Endocrine Aspects of 4H Leukodystrophy: A Case Report and Review of the Literature Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation Recessive Mutations in POLR3B Encoding RNA Polymerase III Subunit Causing Diffuse Hypomyelination in Patients with 4H Leukodystrophy with Polymicrogyria and Cataracts.Neurogenic bladder and neuroendocrine abnormalities in Pol III-related leukodystrophy Longitudinal follow up of a boy affected by Pol III-related leukodystrophy: a detailed phenotype description.Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy.Diffuse hypomyelination is not obligate for POLR3-related disorders.Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.Hypomyelinating leukodystrophies - a molecular insight into the white matter pathology.Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms.Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease.Reply: POLR3A variants in hereditary spastic paraplegia and ataxia.POLR3A variants in hereditary spastic paraplegia and ataxia.Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach.Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients.Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder.Phenotypic spectrum of POLR3B mutations: isolated hypogonadotropic hypogonadism without neurological or dental anomalies.A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case report.Clinical Relapses of Atypical HUS on Eculizumab: Clinical Gap for Monitoring and Individualised Therapy.Wiedemann-Rautenstrauch syndrome: A phenotype analysis.Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A.Genes underlying delayed puberty

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Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.

http://www.wikidata.org/entity/Q34591305

description

2014 nî lūn-bûn

@nan

2014 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի հոտեմբերին հրատարակված գիտական հոդված

@hy

2014年の論文

@ja

2014年論文

@yue

2014年論文

@zh-hant

2014年論文

@zh-hk

2014年論文

@zh-mo

2014年論文

@zh-tw

2014年论文

@wuu

name

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.

@en

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.

@nl

type

label

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.

@en

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.

@nl

prefLabel

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.

@en

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.

@nl

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Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.

@en

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4H Research Group

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

Amy Pizzino

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

Coriene Catsman-Berrevoets

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

Daniela Pohl

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

Erik Sistermans

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

Johan M Kros

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

Kether Guerrero

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

Marianna Bugiani

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

Marjo S van der Knaap

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

Michelle Demos

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

P2860

A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum

Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31.

Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy

Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.

Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy.

Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia

Magnetic resonance imaging pattern recognition in hypomyelinating disorders

More than hypomyelination in Pol-III disorder.

Leukoencephalopathy with ataxia, hypodontia, and hypomyelination.

Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism.

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1898-1905

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scholarly article

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10.1212/WNL.0000000000001002

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21

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83

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Sébastien Fribourg

Adeline Vanderver

Geneviève Bernard

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2014-10-22T00:00:00Z

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25339210

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4248461

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