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

14 October 2017

title

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

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14 October 2017

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Ingeborg Krägeloh-Mann

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Ingeborg Krägeloh-Mann

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11

Lina Basel-Vanagaite

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Fred van Ruissen

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Fred van Ruissen

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Paul R Kasher

3

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Rudolf Korinthenberg

Rudolf Korinthenberg

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Yasmin Namavar

1

Yasmin Namavar

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Bwee Tien Poll-The

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5

Knut Brockmann

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Peter G Barth

2

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Günther Bernert

6

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Karin Writzl

7

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Karen Ventura

8

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Edith Y Cheng

9

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Donna M Ferriero

10

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Veerle R C Eggens

12

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Linda De Meirleir

14

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Mary King

15

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John M Graham

16

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Arpad von Moers

17

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Nine Knoers

18

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Laszlo Sztriha

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PCH Consortium

21

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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

volume

134

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14 October 2017

issue

Pt 1

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14 October 2017

page(s)

143-156

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

14 October 2017

cites work

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

21 January 2018

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Pontocerebellar hypoplasia--how many types?

21 January 2018

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Pontocerebellar hypoplasia type 2: a neuropathological update.

21 January 2018

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

21 January 2018

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tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

21 January 2018

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

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

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

21 January 2018

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Anterior horn cell disease associated with pontocerebellar hypoplasia in infants

21 January 2018

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

21 January 2018

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

21 January 2018

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Cerebellar hypoplasia in Werdnig-Hoffmann disease

21 January 2018

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Aminoacyl tRNA synthetases and their connections to disease

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

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Diagnostic criteria and genetics of the PEHO syndrome

21 January 2018

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Congenital disorder of glycosylation type Ia presenting with hydrops fetalis

21 January 2018

1 reference

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21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWQ287

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14 October 2017

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