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Items: 1 to 20 of 21

1.

The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin.

Moreira MC, Barbot C, Tachi N, Kozuka N, Uchida E, Gibson T, Mendonça P, Costa M, Barros J, Yanagisawa T, Watanabe M, Ikeda Y, Aoki M, Nagata T, Coutinho P, Sequeiros J, Koenig M.

Nat Genet. 2001 Oct;29(2):189-93.

PMID:
11586300
2.

Short-patch single-strand break repair in ataxia oculomotor apraxia-1.

Reynolds JJ, El-Khamisy SF, Caldecott KW.

Biochem Soc Trans. 2009 Jun;37(Pt 3):577-81. doi: 10.1042/BST0370577. Review.

PMID:
19442253
3.

Spinocerebellar ataxia with ocular motor apraxia and DNA repair.

Onodera O.

Neuropathology. 2006 Aug;26(4):361-7. Review.

PMID:
16961074
4.

Defective DNA repair and neurodegenerative disease.

Rass U, Ahel I, West SC.

Cell. 2007 Sep 21;130(6):991-1004. Review.

5.

Early-onset ataxia with ocular motor apraxia and hypoalbuminemia/ataxia with oculomotor apraxia 1.

Tada M, Yokoseki A, Sato T, Makifuchi T, Onodera O.

Adv Exp Med Biol. 2010;685:21-33. Review.

PMID:
20687492
6.

Ataxia-telangiectasia, an evolving phenotype.

Chun HH, Gatti RA.

DNA Repair (Amst). 2004 Aug-Sep;3(8-9):1187-96. Review.

PMID:
15279807
7.

[Molecular genetics of inherited neuropathies].

Takashima H.

Rinsho Shinkeigaku. 2006 Jan;46(1):1-18. Review. Japanese.

PMID:
16541790
8.

[Autosomal recessive cerebellar ataxias with oculomotor apraxia].

Le Ber I, Rivaud-Péchoux S, Brice A, Dürr A.

Rev Neurol (Paris). 2006 Feb;162(2):177-84. Review. French.

PMID:
16518257
9.

[Clinical features and molecular genetics of autosomal recessive spinocerebellar degenerations].

Tsuji S.

Rinsho Shinkeigaku. 2004 Nov;44(11):785-7. Review. Japanese.

PMID:
15651291
10.

[Molecular mechanism for spinocerebellar ataxias].

Onodera O.

Rinsho Shinkeigaku. 2009 Nov;49(11):750-2. Review. Japanese.

PMID:
20030201
11.

Neurological disorders associated with DNA strand-break processing enzymes.

Jiang B, Glover JN, Weinfeld M.

Mech Ageing Dev. 2017 Jan;161(Pt A):130-140. doi: 10.1016/j.mad.2016.07.009. Epub 2016 Jul 25. Review.

12.

[Autosomal recessive cerebellar ataxias. Their classification, genetic features and pathophysiology].

Espinós-Armero C, González-Cabo P, Palau-Martínez F.

Rev Neurol. 2005 Oct 1-15;41(7):409-22. Review. Spanish.

13.

New autosomal recessive cerebellar ataxias with oculomotor apraxia.

Le Ber I, Brice A, Dürr A.

Curr Neurol Neurosci Rep. 2005 Sep;5(5):411-7. Review.

PMID:
16131425
14.

[Autosomal recessive cerebellar ataxias].

Anheim M.

Rev Neurol (Paris). 2011 May;167(5):372-84. doi: 10.1016/j.neurol.2010.07.021. Epub 2010 Nov 17. Review. French.

PMID:
21087783
15.

DNA single-strand break repair and spinocerebellar ataxia.

Caldecott KW.

Cell. 2003 Jan 10;112(1):7-10. Review.

16.

Molecular underpinnings of Aprataxin RNA/DNA deadenylase function and dysfunction in neurological disease.

Schellenberg MJ, Tumbale PP, Williams RS.

Prog Biophys Mol Biol. 2015 Mar;117(2-3):157-165. doi: 10.1016/j.pbiomolbio.2015.01.007. Epub 2015 Jan 29. Review.

17.

Hit proteins, mitochondria and cancer.

Martin J, St-Pierre MV, Dufour JF.

Biochim Biophys Acta. 2011 Jun;1807(6):626-32. doi: 10.1016/j.bbabio.2011.02.001. Epub 2011 Mar 1. Review.

18.

More Than Ataxia: Hyperkinetic Movement Disorders in Childhood Autosomal Recessive Ataxia Syndromes.

Pearson TS.

Tremor Other Hyperkinet Mov (N Y). 2016 Jul 16;6:368. doi: 10.7916/D8H70FSS. eCollection 2016. Review.

19.

[Histidine triad protein superfamily--biological function and enzymatic activity].

Krakowiak A, Fryc I.

Postepy Biochem. 2012;58(3):302-13. Review. Polish.

PMID:
23373416
20.

Autosomal recessive cerebellar ataxias with oculomotor apraxia.

Le Ber I, Dürr A, Brice A.

Handb Clin Neurol. 2012;103:333-41. doi: 10.1016/B978-0-444-51892-7.00020-6. Review. No abstract available.

PMID:
21827898

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