(Q36833519)

16 August 2017

Diffuse hypomyelination is not obligate for POLR3-related disorders (English)

1 reference

16 August 2017

6

Katrin Õunap

1 reference

16 August 2017

18

Adeline Vanderver

1 reference

16 August 2017

21

Geneviève Bernard

1 reference

16 August 2017

Sander Pajusalu

7

0 references

Nicole I Wolf

object named as

Nicole I Wolf

20

0 references

Dagmar Timmann

10

object named as

Dagmar Timmann

1 reference

16 August 2017

11

Hanna Mierzewska

1 reference

16 August 2017

1

Roberta La Piana

1 reference

16 August 2017

4

Kether Guerrero

1 reference

16 August 2017

Ferdy K Cayami

2

1 reference

16 August 2017

Luan T Tran

3

1 reference

16 August 2017

Rosalina van Spaendonk

5

1 reference

16 August 2017

Tobias Haack

8

1 reference

16 August 2017

Evangeline Wassmer

9

1 reference

16 August 2017

Bwee T Poll-Thé

12

1 reference

16 August 2017

Chirag Patel

13

1 reference

16 August 2017

Helen Cox

14

1 reference

16 August 2017

Tahir Atik

15

1 reference

16 August 2017

Huseyin Onay

16

1 reference

16 August 2017

Ferda Ozkınay

17

1 reference

16 August 2017

Marjo S van der Knaap

19

1 reference

16 August 2017

language of work or name

English

0 references

publication date

30 March 2016

1 reference

16 August 2017

5

1 reference

based on heuristic

inferred from page(s)

published in

Neurology

1 reference

16 August 2017

86

1 reference

16 August 2017

17

1 reference

16 August 2017

1622-1626

1 reference

Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.

16 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4844237

Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4844237

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4844237

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4844237

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4844237

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4844237

Magnetic resonance imaging pattern recognition in hypomyelinating disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4844237

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4844237

A method and server for predicting damaging missense mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4844237

Predicting deleterious amino acid substitutions

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4844237

Interaction of proteins with the mRNA for ribosomal protein L1 in Xenopus: structural characterization of in vivo complexes and identification of proteins that bind in vitro to its 5'UTR.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4844237

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4844237

Leukoencephalopathy with ataxia, hypodontia, and hypomyelination.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4844237

A regulatory cis element and a specific binding factor involved in the mitogenic control of murine ribosomal protein L32 translation

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4844237

POLR3A and POLR3B Mutations in Unclassified Hypomyelination.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4844237

MutationTaster2: mutation prediction for the deep-sequencing age.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4844237

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

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4844237

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

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4844237

Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4844237

Ataxia, Delayed Dentition and Hypomyelination: A Novel Leukoencephalopathy

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4844237

Leukodystrophy associated with oligodontia in a large inbred family: fortuitous association or new entity?

4 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27029625

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1212/WNL.0000000000002612

1 reference

16 August 2017

1 reference

16 August 2017

PubMed publication ID

27029625

1 reference