Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia (Q21202866)

18 August 2022

Yasmin Namavar

1

Yasmin

Namavar

1 reference

18 August 2022

Peter G Barth

series ordinal

2

author given names

Peter G

author last names

Barth

1 reference

18 August 2022

Bwee Tien Poll-The

series ordinal

3

author given names

Bwee Tien

author last names

Poll-The

1 reference

Orphanet Journal of Rare Diseases

18 August 2022

language of work or name

English

0 references

publication date

12 July 2011

3 references

22 April 2019

25 April 2019

7 August 2019

3 references

22 April 2019

25 April 2019

7 August 2019

6

0 references

issue

1

0 references

page(s)

50

0 references

copyright license

Creative Commons Attribution 2.0 Generic

3 references

Europe PubMed Central

22 April 2019

Europe PubMed Central

25 April 2019

Europe PubMed Central

on focus list of Wikimedia project

7 August 2019

copyright status

copyrighted

0 references

ScienceSource

0 references

cites work

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TSEN54 mutations cause pontocerebellar hypoplasia type 5

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12 September 2017

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12 September 2017

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Mutations Disrupting Selenocysteine Formation Cause Progressive Cerebello-Cerebral Atrophy

12 September 2017

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RNA metabolism and the pathogenesis of motor neuron diseases

12 September 2017

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12 September 2017

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

12 September 2017

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12 September 2017

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12 September 2017

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12 September 2017

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tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

12 September 2017

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Aminoacyl tRNA synthetases and their connections to disease

12 September 2017

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12 September 2017

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12 September 2017

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

12 September 2017

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Pontocerebellar hypoplasia type 2: a neuropathological update.

12 September 2017

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The congenital muscular dystrophies in 2004: a century of exciting progress

12 September 2017

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12 September 2017

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12 September 2017

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12 September 2017

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12 September 2017

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12 September 2017

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12 September 2017

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

12 September 2017

1 reference

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Pontoneocerebellar hypoplasia: report of a case in a newborn and review of the literature

12 September 2017

1 reference

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Infantile olivopontocerebellar atrophy with spinal muscular atrophy (infantile OPCA + SMA).

12 September 2017

1 reference

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Inherited syndrome of microcephaly, dyskinesia and pontocerebellar hypoplasia: a systemic atrophy with early onset

12 September 2017

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Anterior horn cell disease associated with pontocerebellar hypoplasia in infants

12 September 2017

1 reference

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Hypoplasia ponto-neocerebellaris (author's transl)

12 September 2017

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

12 September 2017

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Impairment of the tRNA-splicing endonuclease subunit 54 (tsen54) gene causes neurological abnormalities and larval death in zebrafish models of pontocerebellar hypoplasia

27 September 2017

1 reference

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Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

30 May 2018

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

30 May 2018

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

30 May 2018

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

30 May 2018

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30 May 2018

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30 May 2018

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Disruption of cerebellar development: potential complication of extreme prematurity.

30 May 2018

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30 May 2018

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

30 May 2018

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Early fatal pontocerebellar hypoplasia in premature twin sisters

30 May 2018

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30 May 2018

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Pontocerebellar hypoplasia associated with respiratory-chain defects

30 May 2018

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Congenital olivopontocerebellar atrophy: report of two siblings with paleo- and neocerebellar atrophy

30 May 2018

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30 May 2018

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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

30 May 2018

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30 May 2018

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30 May 2018

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30 May 2018

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30 May 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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Pontocerebellar hypoplasia type 2: further clinical characterization and evidence of positive response of dyskinesia to levodopa.

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21 January 2018

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Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4

21 January 2018

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29 November 2018

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29 November 2018

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29 November 2018

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29 November 2018

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Predominant cerebellar volume loss as a neuroradiologic feature of pediatric respiratory chain defects.

29 November 2018

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29 November 2018

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CDG-Id in two siblings with partially different phenotypes

21 January 2018

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Pontocerebellar hypoplasia type 3 with severe vitamin A deficiency

21 January 2018

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12 December 2020

Hypoplasia ponto-neocerebellaris, with malformation of the dentate nucleus

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12 December 2020

Molecular biology. Knives, accomplices, and RNA

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12 December 2020

Spectrum of malformations of the hindbrain (cerebellum, pons, and medulla) in a cohort of children with high rate of parental consanguinity

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12 December 2020

Familial pontocerebellar hypoplasia type I with anterior horn cell disease

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12 December 2020

Pontoneocerebellar hypoplasia: definition of MR features

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12 December 2020

Extended phenotype of pontocerebellar hypoplasia with infantile spinal muscular atrophy

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12 December 2020

Cerebellar Hypoplasia in Werdnig-Hoffmann Disease

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12 December 2020

Infantile neuronal degeneration masquerading as Werdnig-Hoffmann disease

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12 December 2020

Olivopontocerebellar hypoplasia with anterior horn cell involvement (SMA) does not localize to chromosome 5q

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12 December 2020

Identifiers

DOI

10.1186/1750-1172-6-50

1 reference

0 references

1 reference

1 reference

PubMed publication ID

21749694

1 reference