(Q39506544)

12 September 2017

title

Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement (English)

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12 September 2017

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9

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12 September 2017

Stefan J Siira

2

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Bharti Morar

object named as

Bharti Morar

8

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Aleksandra Filipovska

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Aleksandra Filipovska

16

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Luba Kalaydjieva

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object named as

Luba Kalaydjieva

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12 September 2017

Dimitar N Azmanov

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12 September 2017

Teodora Chamova

3

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12 September 2017

Ara Kaprelyan

4

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12 September 2017

Velina Guergueltcheva

5

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12 September 2017

Anne-Marie J Shearwood

6

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12 September 2017

Ganqiang Liu

7

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12 September 2017

Michael Bynevelt

10

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12 September 2017

Margarita Grudkova

11

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12 September 2017

Zdravko Kamenov

12

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12 September 2017

Vassil Svechtarov

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12 September 2017

Ivailo Tournev

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12 September 2017

language of work or name

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9 August 2016

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12 September 2017

published in

Human Molecular Genetics

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12 September 2017

volume

25

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12 September 2017

issue

19

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12 September 2017

page(s)

4302-4314

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

12 September 2017

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Transcription by RNA polymerase III: more complex than we thought

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

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Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1.

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

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Diffuse central hypomyelination presenting as 4H syndrome caused by compound heterozygous mutations in POLR3A encoding the catalytic subunit of polymerase III.

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21 January 2018

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21 January 2018

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

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

Identifiers

DOI

10.1093/HMG/DDW263

1 reference

12 September 2017

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