(Q35542161)

8 August 2017

0 references

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

1 reference

8 August 2017

9

Bernard Brais

0 references

Adeline Vanderver

10

Adeline Vanderver

1 reference

8 August 2017

11

Geneviève Bernard

1 reference

8 August 2017

Sébastien Fribourg

7

0 references

Martin Teichmann

Martin Teichmann

6

0 references

Davide Tonduti

Davide Tonduti

4

0 references

Umberto Balottin

Umberto Balottin

5

0 references

author name string

Martine Tétreault

1

1 reference

8 August 2017

Karine Choquet

2

1 reference

8 August 2017

Simona Orcesi

3

1 reference

8 August 2017

Raphael Schiffmann

8

1 reference

8 August 2017

language of work or name

English

0 references

publication date

27 October 2011

1 reference

American Journal of Human Genetics

8 August 2017

published in

1 reference

8 August 2017

volume

89

1 reference

8 August 2017

issue

5

1 reference

8 August 2017

page(s)

652-655

1 reference

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

8 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=3213403

The TFIIF-like Rpc37/53 dimer lies at the center of a protein network to connect TFIIIC, Bdp1, and the RNA polymerase III active center

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213403

Neurodegenerative disorder related to AIMP1/p43 mutation is not a PMLD.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213403

Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213403

Conformational flexibility of RNA polymerase III during transcriptional elongation.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213403

Cell growth- and differentiation-dependent regulation of RNA polymerase III transcription

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213403

Magnetic resonance imaging pattern recognition in hypomyelinating disorders

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213403

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213403

New case of 4H syndrome and a review of the literature

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213403

Invited article: an MRI-based approach to the diagnosis of white matter disorders

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213403

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213403

Tissue-specific differences in human transfer RNA expression

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213403

Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213403

Leukoencephalopathy with ataxia, hypodontia, and hypomyelination.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213403

Structures of complete RNA polymerase II and its subcomplex, Rpb4/7.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213403

The latest on leukodystrophies

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213403

Rare dental peculiarities associated with the hypomyelinating leukoencephalopathy 4H syndrome/ADDH.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213403

Hypomyelination, hypogonadotropic hypogonadism, hypodontia - First Polish patient.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213403

Ataxia, Delayed Dentition and Hypomyelination: A Novel Leukoencephalopathy

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213403

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

15 November 2018

1 reference

12 December 2020

Structural biology of RNA polymerase III: subcomplex C17/25 X-ray structure and 11 subunit enzyme model

1 reference

12 December 2020

[Central hypomyelination, hypogonadotrophic hypogonadism and hypodontia: a new leukodystrophy]

1 reference

12 December 2020

A whole-genome scan in a large family with leukodystrophy and oligodontia reveals linkage to 10q22

1 reference

12 December 2020

10.1016/J.AJHG.2011.10.006

Identifiers

DOI

1 reference

8 August 2017

1 reference

8 August 2017

1 reference