(Q47943966)

7 February 2018

title

Homozygous EXOSC3 mutation c.92G→C, p.G31A is a founder mutation causing severe pontocerebellar hypoplasia type 1 among the Czech Roma. (English)

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7 February 2018

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Jaroslava Schwabova

1

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7 February 2018

Dana Safka Brozkova

2

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7 February 2018

Borivoj Petrak

3

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7 February 2018

Mahulena Mojzisova

4

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7 February 2018

Klara Pavlickova

5

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7 February 2018

Jana Haberlova

6

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7 February 2018

Lenka Mrazkova

7

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7 February 2018

Petra Hedvicakova

8

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7 February 2018

Ludmila Hornofova

9

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7 February 2018

Marie Kaluzova

10

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7 February 2018

Filip Fencl

11

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7 February 2018

Marcela Krutova

12

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7 February 2018

Josef Zamecnik

13

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7 February 2018

Pavel Seeman

14

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7 February 2018

publication date

25 July 2013

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7 February 2018

published in

Journal of Neurogenetics

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7 February 2018

volume

27

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7 February 2018

issue

4

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7 February 2018

page(s)

163-169

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7 February 2018

Pontocerebellar hypoplasias. An overview of a group of inherited neurodegenerative disorders with fetal onset

cites work

1 reference

https://api.crossref.org/works/10.3109%2F01677063.2013.814651

Pontocerebellar hypoplasia type 2: a neuropathological update.

21 January 2018

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https://api.crossref.org/works/10.3109%2F01677063.2013.814651

Anterior horn cell disease associated with pontocerebellar hypoplasia in infants

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F01677063.2013.814651

Severe lethal spinal muscular atrophy variant with arthrogryposis

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F01677063.2013.814651

Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F01677063.2013.814651

Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F01677063.2013.814651

Cerebellar hypoplasia in Werdnig-Hoffmann disease

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F01677063.2013.814651

Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F01677063.2013.814651

Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F01677063.2013.814651

Exclusion of the gene locus for spinal muscular atrophy on chromosome 5q in a family with infantile olivopontocerebellar atrophy (OPCA) and anterior horn cell degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F01677063.2013.814651

TSEN54 mutation in a child with pontocerebellar hypoplasia type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F01677063.2013.814651

Pontocerebellar hypoplasia type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F01677063.2013.814651

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F01677063.2013.814651

10.3109/01677063.2013.814651

21 January 2018

Identifiers

DOI

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7 February 2018

PubMed ID

23883322

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7 February 2018