(Q35031027)

5 August 2017

TSEN54 mutations cause pontocerebellar hypoplasia type 5 (English)

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pontocerebellar hypoplasia type 5

5 August 2017

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8

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4

Fred van Ruissen

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Marit B de Wissel

5

object named as

Marit B de Wissel

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5 August 2017

1

Yasmin Namavar

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5 August 2017

6

Bwee Tien Poll-The

1 reference

5 August 2017

David Chitayat

2

1 reference

5 August 2017

Peter G Barth

3

1 reference

5 August 2017

Fred van Ruissen

4

1 reference

5 August 2017

Rachel Silver

7

1 reference

5 August 2017

2 February 2011

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European Journal of Human Genetics

5 August 2017

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19

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6

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5 August 2017

724-726

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https://scigraph.springernature.com/pub.10.1038/ejhg.2011.8

5 August 2017

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cites work

Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110057

Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110057

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110057

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110057

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110057

Pontocerebellar hypoplasia type 2: a neuropathological update.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110057

Early fatal pontocerebellar hypoplasia in premature twin sisters

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110057

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110057

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

8 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2011.8

Pontocerebellar hypoplasia type 2: variability in clinical and imaging findings

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2011.8

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

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2011.8

21 January 2018

Identifiers

DOI

10.1038/EJHG.2011.8

1 reference

5 August 2017

1 reference

5 August 2017

1 reference