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Results: 7

1.

A novel mutation in the aprataxin (APTX) gene in an Iranian individual suffering early-onset ataxia with oculomotor apraxia type 1(AOA1) disease.

Nouri N, Nouri N, Aryani O, Kamalidehghan B, Sedghi M, Houshmand M.

Iran Biomed J. 2012;16(4):223-5.

PMID:
23183622
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit.

Yoon G, Westmacott R, Macmillan L, Quercia N, Koutsou P, Georghiou A, Christodoulou K, Banwell B.

BMJ Case Rep. 2009;2009. pii: bcr08.2008.0688. doi: 10.1136/bcr.08.2008.0688. Epub 2009 Feb 2.

PMID:
21686683
[PubMed]
Free PMC Article
3.

Aprataxin localizes to mitochondria and preserves mitochondrial function.

Sykora P, Croteau DL, Bohr VA, Wilson DM 3rd.

Proc Natl Acad Sci U S A. 2011 May 3;108(18):7437-42. doi: 10.1073/pnas.1100084108. Epub 2011 Apr 18.

PMID:
21502511
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi Arabia.

Bohlega SA, Shinwari JM, Al Sharif LJ, Khalil DS, Alkhairallah TS, Al Tassan NA.

BMC Med Genet. 2011 Feb 16;12:27. doi: 10.1186/1471-2350-12-27.

PMID:
21324166
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Autosomal recessive cerebellar ataxias.

Palau F, Espinós C.

Orphanet J Rare Dis. 2006 Nov 17;1:47. Review.

PMID:
17112370
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Disease-associated mutations inactivate AMP-lysine hydrolase activity of Aprataxin.

Seidle HF, Bieganowski P, Brenner C.

J Biol Chem. 2005 Jun 3;280(22):20927-31. Epub 2005 Mar 23.

PMID:
15790557
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

A new XRCC1-containing complex and its role in cellular survival of methyl methanesulfonate treatment.

Luo H, Chan DW, Yang T, Rodriguez M, Chen BP, Leng M, Mu JJ, Chen D, Songyang Z, Wang Y, Qin J.

Mol Cell Biol. 2004 Oct;24(19):8356-65.

PMID:
15367657
[PubMed - indexed for MEDLINE]
Free PMC Article

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