(Q49029790)

English

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

scientific article published on 29 July 2008

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scholarly article

1 reference

Europe PubMed Central

17 February 2018

http://europepmc.org/abstract/MED/18663494

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

1 reference

Europe PubMed Central

17 February 2018

http://europepmc.org/abstract/MED/18663494

gene duplication

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

Joerg T. Epplen

5

1 reference

Europe PubMed Central

17 February 2018

http://europepmc.org/abstract/MED/18663494

2

object named as

Ludger Schöls

1 reference

Europe PubMed Central

17 February 2018

http://europepmc.org/abstract/MED/18663494

6

object named as

Dagmar Timmann

1 reference

Europe PubMed Central

17 February 2018

http://europepmc.org/abstract/MED/18663494

author name string

Larissa Arning

1

1 reference

Europe PubMed Central

17 February 2018

http://europepmc.org/abstract/MED/18663494

Huriye Cin

3

1 reference

Europe PubMed Central

17 February 2018

http://europepmc.org/abstract/MED/18663494

Manfred Souquet

4

1 reference

Europe PubMed Central

17 February 2018

http://europepmc.org/abstract/MED/18663494

publication date

29 July 2008

1 reference

Europe PubMed Central

17 February 2018

http://europepmc.org/abstract/MED/18663494

1 reference

Europe PubMed Central

17 February 2018

http://europepmc.org/abstract/MED/18663494

9

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Europe PubMed Central

17 February 2018

http://europepmc.org/abstract/MED/18663494

4

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Europe PubMed Central

17 February 2018

http://europepmc.org/abstract/MED/18663494

295-299

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Europe PubMed Central

17 February 2018

http://europepmc.org/abstract/MED/18663494

https://scigraph.springernature.com/pub.10.1007/s10048-008-0139-z

0 references

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/18663494

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/18663494

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18663494

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/18663494

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/18663494

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies

1 reference

https://pubmed.ncbi.nlm.nih.gov/18663494

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/18663494

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/18663494

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder

1 reference

https://pubmed.ncbi.nlm.nih.gov/18663494

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of newly identified low copy AluYj subfamily.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18663494

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ataxia telangiectasia in the British Isles: the clinical and laboratory features of 70 affected individuals

1 reference

https://pubmed.ncbi.nlm.nih.gov/18663494

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spinocerebellar ataxia with ocular motor apraxia and DNA repair.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18663494

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10048-008-0139-Z

1 reference

Europe PubMed Central

17 February 2018

http://europepmc.org/abstract/MED/18663494

1 reference

Europe PubMed Central

17 February 2018

http://europepmc.org/abstract/MED/18663494

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