(Q34169108)

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Pontocerebellar hypoplasia: review of classification and genetics, and exclusion of several genes known to be important for cerebellar development.

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Europe PubMed Central

PubMed publication ID

31 July 2017

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Europe PubMed Central

Pontocerebellar hypoplasia: review of classification and genetics, and exclusion of several genes known to be important for cerebellar development. (English)

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Europe PubMed Central

PubMed publication ID

31 July 2017

object named as

Millan S Patel

5

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Huda Y Zoghbi

9

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author name string

Stephen M Maricich

1

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Europe PubMed Central

PubMed publication ID

31 July 2017

Kaashif A Aqeeb

2

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Europe PubMed Central

PubMed publication ID

31 July 2017

Yalda Moayedi

3

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Europe PubMed Central

PubMed publication ID

31 July 2017

Erin L Mathes

4

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Europe PubMed Central

PubMed publication ID

31 July 2017

David Chitayat

6

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Europe PubMed Central

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31 July 2017

Gilles Lyon

7

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31 July 2017

Jules G Leroy

8

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31 July 2017

publication date

1 March 2011

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31 July 2017

Journal of Child Neurology

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31 July 2017

26

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31 July 2017

3

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31 July 2017

288-294

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Europe PubMed Central

PubMed publication ID

31 July 2017

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

1 reference

https://api.crossref.org/works/10.1177%2F0883073810380047

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1177%2F0883073810380047

21 January 2018

Identification of two novel human putative serine/threonine kinases, VRK1 and VRK2, with structural similarity to vaccinia virus B1R kinase

1 reference

https://api.crossref.org/works/10.1177%2F0883073810380047

21 January 2018

Pontocerebellar hypoplasia type 2: a neuropathological update.

1 reference

https://api.crossref.org/works/10.1177%2F0883073810380047

21 January 2018

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

1 reference

https://api.crossref.org/works/10.1177%2F0883073810380047

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1177%2F0883073810380047

21 January 2018

Progress on pontocerebellar hypoplasia

1 reference

https://api.crossref.org/works/10.1177%2F0883073810380047

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1177%2F0883073810380047

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1177%2F0883073810380047

21 January 2018

A role for Gbx2 in repression of Otx2 and positioning the mid/hindbrain organizer

1 reference

https://api.crossref.org/works/10.1177%2F0883073810380047

21 January 2018

The midbrain-hindbrain phenotype of Wnt-1-/Wnt-1- mice results from stepwise deletion of engrailed-expressing cells by 9.5 days postcoitum.

1 reference

https://api.crossref.org/works/10.1177%2F0883073810380047

21 January 2018

The Engrailed homeobox genes determine the different foliation patterns in the vermis and hemispheres of the mammalian cerebellum

1 reference

https://api.crossref.org/works/10.1177%2F0883073810380047

21 January 2018

Subtle Cerebellar Phenotype in Mice Homozygous for a Targeted Deletion of the En-2 Homeobox

1 reference

https://api.crossref.org/works/10.1177%2F0883073810380047

21 January 2018

Engrailed homeobox genes determine the organization of Purkinje cell sagittal stripe gene expression in the adult cerebellum

1 reference

https://api.crossref.org/works/10.1177%2F0883073810380047

21 January 2018

Math1 expression redefines the rhombic lip derivatives and reveals novel lineages within the brainstem and cerebellum

1 reference

https://api.crossref.org/works/10.1177%2F0883073810380047

21 January 2018

Ptf1a, a bHLH transcriptional gene, defines GABAergic neuronal fates in cerebellum

1 reference

https://api.crossref.org/works/10.1177%2F0883073810380047

21 January 2018

Mutations in PTF1A cause pancreatic and cerebellar agenesis

1 reference

https://api.crossref.org/works/10.1177%2F0883073810380047

21 January 2018

Barhl1 regulates migration and survival of cerebellar granule cells by controlling expression of the neurotrophin-3 gene

1 reference

https://api.crossref.org/works/10.1177%2F0883073810380047

21 January 2018

Congenital pontocerebellar atrophy and telencephalic defects in three siblings: a new subtype

1 reference

https://api.crossref.org/works/10.1177%2F0883073810380047

21 January 2018

Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice

1 reference

https://api.crossref.org/works/10.1177%2F0883073810380047

21 January 2018

Heterozygous mutations of OTX2 cause severe ocular malformations

1 reference

https://api.crossref.org/works/10.1177%2F0883073810380047

21 January 2018

Support for the homeobox transcription factor gene ENGRAILED 2 as an autism spectrum disorder susceptibility locus

1 reference

https://api.crossref.org/works/10.1177%2F0883073810380047

21 January 2018

Association of the homeobox transcription factor, ENGRAILED 2, 3, with autism spectrum disorder

1 reference

https://api.crossref.org/works/10.1177%2F0883073810380047

21 January 2018

Genetic mutation in pontocerebellar hypoplasia.

1 reference

https://api.crossref.org/works/10.1177%2F0883073810380047

21 January 2018

Agenesis of the corpus callosum: genetic, developmental and functional aspects of connectivity.

1 reference

https://api.crossref.org/works/10.1177%2F0883073810380047

21 January 2018

Analysis of genotype-phenotype correlations in human holoprosencephaly

1 reference

https://api.crossref.org/works/10.1177%2F0883073810380047

21 January 2018

Identifiers

10.1177/0883073810380047

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

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