(Q34591305)

3 August 2017

title

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations (English)

1 reference

3 August 2017

5

Bernard Brais

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Adeline Vanderver

2

object named as

Adeline Vanderver

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3 August 2017

21

Geneviève Bernard

1 reference

3 August 2017

Sébastien Fribourg

15

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Nicole I Wolf

object named as

Nicole I Wolf

1

0 references

Marianna Bugiani

6

object named as

Marianna Bugiani

1 reference

3 August 2017

19

Kether Guerrero

1 reference

3 August 2017

author name string

Rosalina M L van Spaendonk

3

1 reference

3 August 2017

Raphael Schiffmann

4

1 reference

3 August 2017

Erik Sistermans

7

1 reference

3 August 2017

Coriene Catsman-Berrevoets

8

1 reference

3 August 2017

Johan M Kros

9

1 reference

3 August 2017

Pedro Soares Pinto

10

1 reference

3 August 2017

Daniela Pohl

11

1 reference

3 August 2017

Sandya Tirupathi

12

1 reference

3 August 2017

Petter Strømme

13

1 reference

3 August 2017

Ton de Grauw

14

1 reference

3 August 2017

Michelle Demos

16

1 reference

3 August 2017

Amy Pizzino

17

1 reference

3 August 2017

Sakkubai Naidu

18

1 reference

3 August 2017

Marjo S van der Knaap

20

1 reference

3 August 2017

4H Research Group

22

1 reference

3 August 2017

language of work or name

English

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publication date

22 October 2014

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3 August 2017

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3 August 2017

volume

83

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3 August 2017

issue

21

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3 August 2017

page(s)

1898-1905

1 reference

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

3 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4248461

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4248461

More than hypomyelination in Pol-III disorder

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4248461

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4248461

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4248461

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4248461

Magnetic resonance imaging pattern recognition in hypomyelinating disorders

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4248461

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4248461

Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4248461

Leukoencephalopathy with ataxia, hypodontia, and hypomyelination.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4248461

Brain magnetic resonance imaging (MRI) pattern recognition in Pol III-related leukodystrophies.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4248461

Different patterns of cerebellar abnormality and hypomyelination between POLR3A and POLR3B mutations.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4248461

Cerebellar hypoplasia-endosteal sclerosis: a long term follow-up.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4248461

Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4248461

Ataxia, Delayed Dentition and Hypomyelination: A Novel Leukoencephalopathy

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4248461

Defining and categorizing leukoencephalopathies of unknown origin: MR imaging approach

9 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25339210

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1212/WNL.0000000000001002

1 reference

3 August 2017

1 reference

3 August 2017

1 reference