| 1 | AOA2, SETX
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| Ataxia with oculomotor apraxia type 2 fibroblasts exhibit increased susceptibility to oxidative DNA damage.
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| Roda RH, Rinaldi C, Singh R, Schindler AB, Blackstone C.
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| J Clin Neurosci 21(9):1627-31. doi: 10.1016/j.jocn.2013.11.048. Epub 2014 May 6.
2014
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| 2 | AOA2, SETX
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| Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2.
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| Fogel BL, Cho E, Wahnich A, Gao F, Becherel OJ, Wang X, Fike F, Chen L, Criscuolo C, De Michele G, Filla A, Collins A, Hahn AF, Gatti RA, Konopka G, Perlman S, Lavin MF, Geschwind DH, Coppola G.
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| Hum Mol Genet 23(18):4758-69. doi: 10.1093/hmg/ddu190. Epub 2014 Apr 23.
2014
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| 3 | AOA2, SETX
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| SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein.
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| Nanetti L, Cavalieri S, Pensato V, Erbetta A, Pareyson D, Panzeri M, Zorzi G, Antozzi C, Moroni I, Gellera C, Brusco A, Mariotti C.
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| Orphanet J Rare Dis 8:123. doi: 10.1186/1750-1172-8-123.
2013
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| 4 | AOA2, SETX
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| Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia.
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| Fogel BL, Lee JY, Lane J, Wahnich A, Chan S, Huang A, Osborn GE, Klein E, Mamah C, Perlman S, Geschwind DH, Coppola G.
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| Mov Disord 27(3):442-6. doi: 10.1002/mds.24064. Epub 2012 Jan 27.
2012
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| 5 | AOA2, SETX
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| Ataxia with oculomotor apraxia type 2: a clinical and genetic study of 19 patients.
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| Tazir M, Ali-Pacha L, M'Zahem A, Delaunoy JP, Fritsch M, Nouioua S, Benhassine T, Assami S, Grid D, Vallat JM, Hamri A, Koenig M.
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| J Neurol Sci 278(1-2):77-81. Epub 2009 Jan 11.
2009
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| 6 | AOA2, SETX
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| Functional role for senataxin, defective in ataxia oculomotor apraxia type 2, in transcriptional regulation.
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| Suraweera A, Lim Y, Woods R, Birrell GW, Nasim T, Becherel OJ, Lavin MF.
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| Hum Mol Genet 18(18):3384-96. Epub 2009 Jun 10.PMID: 19515850 2009
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| 7 | AOA2, SETX
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| A novel nonsense mutation in a Japanese family with ataxia with oculomotor apraxia type 2 (AOA2).
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| Nakamura K, Yoshida K, Makishita H, Kitamura E, Hashimoto S, Ikeda S.
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| J Hum Genet 54(12):746-8. Epub 2009 Nov 6.PMID: 19893583 2009
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| 8 | SETX, AOA2
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| Ovarian failure in ataxia with oculomotor apraxia type 2.
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| Lynch DR, Braastad CD, Nagan N.
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| Am J Med Genet A 143(15):1775-7. 2007
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| 9 | AOA2, SETX
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| Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage.
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| Suraweera A, Becherel OJ, Chen P, Rundle N, Woods R, Nakamura J, Gatei M, Criscuolo C, Filla A, Chessa L, Fusser M, Epe B, Gueven N, Lavin MF.
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| J Cell Biol 177(6):969-79. Epub 2007 Jun 11.
2007
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| 10 | AOA2, SETX
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| Ataxia-oculomotor apraxia 2 patients show no increased sensitivity to ionizing radiation.
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| Nahas SA, Duquette A, Roddier K, Gatti RA, Brais B.
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| Neuromuscul Disord 17(11-12):968-9. Epub 2007 Aug 27.PMID: 17720498 2007
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| 11 | SETX, AOA2
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| Autosomal recessive ataxia with peripheral neuropathy and elevated AFP: novel mutations in SETX.
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| Asaka T, Yokoji H, Ito J, Yamaguchi K, Matsushima A.
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| Neurology 66(10):1580-1. 2006
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| 12 | AOA2, SETX
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| Novel mutations in the senataxin DNA/RNA helicase domain in ataxia with oculomotor apraxia 2.
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| Fogel BL, Perlman S.
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| Neurology 67(11):2083-4. No abstract available.
2006
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| 13 | SETX, AOA2
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| Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.
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| Moreira MC, Klur S, Watanabe M, Nemeth AH, Le Ber I, Moniz JC, Tranchant C, Aubourg P, Tazir M, Schols L, Pandolfo M, Schulz JB, Pouget J, Calvas P, Shizuka-Ikeda M, Shoji M, Tanaka M, Izatt L, Shaw CE, M'Zahem A, Dunne E, Bomont P, Benhassine T, Bouslam N, Stevanin G, Brice A, Guimaraes J, Mendonca P, Barbot C, Coutinho P, Sequeiros J, Durr A, Warter JM, Koenig M.
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| Nat Genet 36(3):225-7. Epub 2004 Feb 08. 2004
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| 14 | AOA1, AOA2
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| Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34.
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| Nemeth AH, Bochukova E, Dunne E, Huson SM, Elston J, Hannan MA, Jackson M, Chapman CJ, Taylor AM.
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| Am J Hum Genet 67(5):1320-6. 2000
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| 15 | AOA2, SCA9, SCABD1
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| Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33-34, and with hearing impairment and optic atrophy to 6p21-23.
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| Bomont P, Watanabe M, Gershoni-Barush R, Shizuka M, Tanaka M, Sugano J, Guiraud-Chaumeil C, Koenig M.
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| Eur J Hum Genet 8(12):986-90. 2000
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| 16 | AOA2
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| Familial spinocerebellar ataxia with cerebellar atrophy, peripheral neuropathy, and elevated level of serum creatine kinase, gamma-globulin, and alpha-fetoprotein.
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| Watanabe M, Sugai Y, Concannon P, Koenig M, Schmitt M, Sato M, Shizuka M, Mizushima K, Ikeda Y, Tomidokoro Y, Okamoto K, Shoji M.
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| Ann Neurol 44(2):265-9. 1998
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| 17 | AOA1, AOA2, APTX
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| Ataxia-ocular motor apraxia: a syndrome mimicking ataxia-telangiectasia.
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| Aicardi J, Barbosa C, Andermann E, Andermann F, Morcos R, Ghanem Q, Fukuyama Y, Awaya Y, Moe P.
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| Ann Neurol 24(4):497-502. 1988
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