(Q33327787)

25 July 2017

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

1 reference

autosomal recessive cerebellar ataxia

25 July 2017

0 references

Paschalis Nicolaou

1

0 references

Kyproula Christodoulou

object named as

Kyproula Christodoulou

6

0 references

author name string

Anthi Georghiou

2

1 reference

25 July 2017

Christina Votsi

3

1 reference

25 July 2017

Lefkos T Middleton

4

1 reference

25 July 2017

Eleni Zamba-Papanicolaou

5

1 reference

25 July 2017

14 April 2008

1 reference

25 July 2017

1 reference

25 July 2017

9

1 reference

25 July 2017

28

1 reference

https://scigraph.springernature.com/pub.10.1186/1471-2350-9-28

25 July 2017

0 references

cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2330029

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2330029

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2330029

Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2330029

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2330029

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2330029

Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2330029

The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2330029

Classification of the hereditary ataxias and paraplegias

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2330029

Multilocus linkage analysis in humans: detection of linkage and estimation of recombination

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2330029

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

21 June 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-9-28

Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33-34, and with hearing impairment and optic atrophy to 6p21-23.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-9-28

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-9-28

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-9-28

In cis autosomal dominant mutation of Senataxin associated with tremor/ataxia syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-9-28

Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-9-28

Ovarian failure in ataxia with oculomotor apraxia type 2

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18405395

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Friedreich's ataxia in Kathikas-Arodhes, Cyprus

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18405395

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1471-2350-9-28

1 reference

Dimensions Publication ID

25 July 2017

0 references

1 reference

25 July 2017

1 reference