(Q37457288)

20 August 2017

Aberrant splicing of the senataxin gene in a patient with ataxia with oculomotor apraxia type 2 (English)

1 reference

20 August 2017

1 reference

1 reference

Brent L Fogel

1

1 reference

20 August 2017

Ji Yong Lee

series ordinal

2

1 reference

20 August 2017

Susan Perlman

series ordinal

3

1 reference

20 August 2017

1 December 2009

1 reference

20 August 2017

1 reference

20 August 2017

8

1 reference

20 August 2017

4

1 reference

20 August 2017

448-453

1 reference

https://scigraph.springernature.com/pub.10.1007/s12311-009-0130-8

20 August 2017

0 references

cites work

ASTD: The Alternative Splicing and Transcript Diversity database

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788137

A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788137

Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788137

Clinical features and molecular genetics of autosomal recessive cerebellar ataxias

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788137

Diagnosis, epidemiology, and genetics of the polycystic ovary syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788137

Autosomal recessive ataxia with peripheral neuropathy and elevated AFP: novel mutations in SETX.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788137

Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788137

Multiple protein/protein and protein/RNA interactions suggest roles for yeast DNA/RNA helicase Sen1p in transcription, transcription-coupled DNA repair and RNA processing

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788137

DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788137

Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788137

Senataxin, the yeast Sen1p orthologue: characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788137

Ataxia with oculomotor apraxia type 2: a clinical and genetic study of 19 patients

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788137

A novel mutation in the senataxin gene identified in a Chinese patient with sporadic amyotrophic lateral sclerosis.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788137

Identification and characterisation of a large senataxin (SETX) gene duplication in ataxia with ocular apraxia type 2 (AOA2).

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788137

"Pseudodominant inheritance" of ataxia with ocular apraxia type 2 (AOA2).

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788137

Novel mutations in the senataxin DNA/RNA helicase domain in ataxia with oculomotor apraxia 2.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788137

Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788137

Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788137

Phylogenomic resources at the UCSC Genome Browser

2 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS12311-009-0130-8

Ovarian failure in ataxia with oculomotor apraxia type 2

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19727998

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

[Statistical analysis of DNA sequences nearby splicing sites]

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19727998

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Clinical and Molecular Findings of Ataxia With Oculomotor Apraxia Type 2 in 4 Families

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19727998

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S12311-009-0130-8

1 reference

20 August 2017

1 reference

20 August 2017

PubMed publication ID

19727998

1 reference