(Q47983772)

English

Ataxia oculomotor apraxia type 2: course over 27 years and a novel stop mutation in the senataxin gene.

scientific article published on 18 April 2009

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scholarly article

1 reference

Europe PubMed Central

7 February 2018

http://europepmc.org/abstract/MED/19377860

Ataxia oculomotor apraxia type 2: course over 27 years and a novel stop mutation in the senataxin gene. (English)

1 reference

Europe PubMed Central

7 February 2018

http://europepmc.org/abstract/MED/19377860

1 reference

based on heuristic

inferred from title

author name string

Tobias Haack

1

1 reference

Europe PubMed Central

7 February 2018

http://europepmc.org/abstract/MED/19377860

Douglas Friday

2

1 reference

Europe PubMed Central

7 February 2018

http://europepmc.org/abstract/MED/19377860

Andreas Bender

3

1 reference

Europe PubMed Central

7 February 2018

http://europepmc.org/abstract/MED/19377860

Arndt Rolfs

4

1 reference

Europe PubMed Central

7 February 2018

http://europepmc.org/abstract/MED/19377860

Thomas Klopstock

5

1 reference

Europe PubMed Central

7 February 2018

http://europepmc.org/abstract/MED/19377860

publication date

18 April 2009

1 reference

Europe PubMed Central

7 February 2018

http://europepmc.org/abstract/MED/19377860

Journal of Neurology

1 reference

Europe PubMed Central

7 February 2018

http://europepmc.org/abstract/MED/19377860

256

1 reference

Europe PubMed Central

7 February 2018

http://europepmc.org/abstract/MED/19377860

9

1 reference

Europe PubMed Central

7 February 2018

http://europepmc.org/abstract/MED/19377860

1555-1557

1 reference

Europe PubMed Central

7 February 2018

http://europepmc.org/abstract/MED/19377860

https://scigraph.springernature.com/pub.10.1007/s00415-009-5133-3

0 references

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19377860

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19377860

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19377860

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19377860

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19377860

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19377860

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial spinocerebellar ataxia with cerebellar atrophy, peripheral neuropathy, and elevated level of serum creatine kinase, gamma-globulin, and alpha-fetoprotein

1 reference

https://pubmed.ncbi.nlm.nih.gov/19377860

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19377860

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ovarian failure in ataxia with oculomotor apraxia type 2

1 reference

https://pubmed.ncbi.nlm.nih.gov/19377860

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19377860

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/19377860

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00415-009-5133-3

1 reference

Europe PubMed Central

7 February 2018

http://europepmc.org/abstract/MED/19377860

release_2ed4dr5uqfdgrpkvzbctlvay2u

0 references

1 reference

Europe PubMed Central

7 February 2018

http://europepmc.org/abstract/MED/19377860

ResearchGate publication ID

0 references

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