Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia (Q41936197)

14 October 2017

Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia (English)

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14 October 2017

22

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14 October 2017

23

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14 October 2017

Ingeborg Krägeloh-Mann

13

Ingeborg Krägeloh-Mann

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14 October 2017

11

Lina Basel-Vanagaite

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Fred van Ruissen

4

Fred van Ruissen

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14 October 2017

Paul R Kasher

3

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Rudolf Korinthenberg

Rudolf Korinthenberg

20

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Yasmin Namavar

1

Yasmin Namavar

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14 October 2017

24

Bwee Tien Poll-The

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14 October 2017

5

Knut Brockmann

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14 October 2017

Peter G Barth

2

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14 October 2017

Günther Bernert

6

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14 October 2017

Karin Writzl

7

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14 October 2017

Karen Ventura

8

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14 October 2017

Edith Y Cheng

9

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14 October 2017

Donna M Ferriero

10

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14 October 2017

Veerle R C Eggens

12

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14 October 2017

Linda De Meirleir

14

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14 October 2017

Mary King

15

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14 October 2017

John M Graham

16

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14 October 2017

Arpad von Moers

17

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14 October 2017

Nine Knoers

18

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14 October 2017

Laszlo Sztriha

19

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14 October 2017

PCH Consortium

21

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14 October 2017

language of work or name

English

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publication date

15 October 2010

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14 October 2017

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14 October 2017

134

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14 October 2017

143-156

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14 October 2017

Pt 1

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Fatal infantile encephalopathy with olivopontocerebellar hypoplasia and micrencephaly. Report of three siblings

14 October 2017

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ287

The role of aminoacyl-tRNA synthetases in genetic diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ287

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ287

Pontocerebellar hypoplasia--how many types?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ287

Pontocerebellar hypoplasia type 2: a neuropathological update.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ287

The syndrome of autosomal recessive pontocerebellar hypoplasia, microcephaly, and extrapyramidal dyskinesia (pontocerebellar hypoplasia type 2): compiled data from 10 pedigrees

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ287

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ287

Congenital disorder of glycosylation type Id: clinical phenotype, molecular analysis, prenatal diagnosis, and glycosylation of fetal proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ287

Pontocerebellar hypoplasia type III (CLAM): extended phenotype and novel molecular findings

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ287

Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ287

Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): is prenatal diagnosis possible?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ287

Anterior horn cell disease associated with pontocerebellar hypoplasia in infants

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ287

Disrupted cerebellar development in preterm infants is associated with impaired neurodevelopmental outcome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ287

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ287

Cerebellar hypoplasia in Werdnig-Hoffmann disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ287

Aminoacyl tRNA synthetases and their connections to disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ287

Severe, fetal-onset form of olivopontocerebellar hypoplasia in three sibs: PCH type 5?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ287

Identification of a human endonuclease complex reveals a link between tRNA splicing and pre-mRNA 3' end formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ287

A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ287

Pontocerebellar hypoplasia type 6: A British case with PEHO-like features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ287

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/10.1093%2FBRAIN%2FAWQ287

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ287

An active dominant mutation of glycyl-tRNA synthetase causes neuropathy in a Charcot-Marie-Tooth 2D mouse model

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ287

Diagnostic criteria and genetics of the PEHO syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ287

Congenital disorder of glycosylation type Ia presenting with hydrops fetalis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ287

21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWQ287

1 reference

14 October 2017

1 reference