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Results: 1 to 20 of 110

Similar articles for PubMed (Select 24183476)

1.

Novel SETX variants in a patient with ataxia, neuropathy, and oculomotor apraxia are associated with normal sensitivity to oxidative DNA damaging agents.

Vantaggiato C, Cantoni O, Guidarelli A, Romaniello R, Citterio A, Arrigoni F, Doneda C, Castelli M, Airoldi G, Bresolin N, Borgatti R, Bassi MT.

Brain Dev. 2014 Sep;36(8):682-9. doi: 10.1016/j.braindev.2013.10.003. Epub 2013 Oct 31.

PMID:
24183476
2.

SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein.

Nanetti L, Cavalieri S, Pensato V, Erbetta A, Pareyson D, Panzeri M, Zorzi G, Antozzi C, Moroni I, Gellera C, Brusco A, Mariotti C.

Orphanet J Rare Dis. 2013 Aug 14;8:123. doi: 10.1186/1750-1172-8-123.

3.

Characterization of two novel SETX mutations in AOA2 patients reveals aspects of the pathophysiological role of senataxin.

Airoldi G, Guidarelli A, Cantoni O, Panzeri C, Vantaggiato C, Bonato S, Grazia D'Angelo M, Falcone S, De Palma C, Tonelli A, Crimella C, Bondioni S, Bresolin N, Clementi E, Bassi MT.

Neurogenetics. 2010 Feb;11(1):91-100. doi: 10.1007/s10048-009-0206-0. Epub 2009 Jul 11.

PMID:
19593598
4.

Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.

Anheim M, Monga B, Fleury M, Charles P, Barbot C, Salih M, Delaunoy JP, Fritsch M, Arning L, Synofzik M, Schöls L, Sequeiros J, Goizet C, Marelli C, Le Ber I, Koht J, Gazulla J, De Bleecker J, Mukhtar M, Drouot N, Ali-Pacha L, Benhassine T, Chbicheb M, M'Zahem A, Hamri A, Chabrol B, Pouget J, Murphy R, Watanabe M, Coutinho P, Tazir M, Durr A, Brice A, Tranchant C, Koenig M.

Brain. 2009 Oct;132(Pt 10):2688-98. doi: 10.1093/brain/awp211. Epub 2009 Aug 20.

5.

Ovarian failure in ataxia with oculomotor apraxia type 2.

Lynch DR, Braastad CD, Nagan N.

Am J Med Genet A. 2007 Aug 1;143A(15):1775-7.

PMID:
17593543
6.

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

Criscuolo C, Chessa L, Di Giandomenico S, Mancini P, Saccà F, Grieco GS, Piane M, Barbieri F, De Michele G, Banfi S, Pierelli F, Rizzuto N, Santorelli FM, Gallosti L, Filla A, Casali C.

Neurology. 2006 Apr 25;66(8):1207-10.

PMID:
16636238
7.

Exon deletions and intragenic insertions are not rare in ataxia with oculomotor apraxia 2.

Bernard V, Minnerop M, Bürk K, Kreuz F, Gillessen-Kaesbach G, Zühlke C.

BMC Med Genet. 2009 Sep 11;10:87. doi: 10.1186/1471-2350-10-87.

8.

Ataxia with oculomotor apraxia type 2 fibroblasts exhibit increased susceptibility to oxidative DNA damage.

Roda RH, Rinaldi C, Singh R, Schindler AB, Blackstone C.

J Clin Neurosci. 2014 Sep;21(9):1627-31. doi: 10.1016/j.jocn.2013.11.048. Epub 2014 May 6.

PMID:
24814856
9.

Ataxia with oculomotor apraxia type 2: a clinical and genetic study of 19 patients.

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.

J Neurol Sci. 2009 Mar 15;278(1-2):77-81. doi: 10.1016/j.jns.2008.12.004. Epub 2009 Jan 11.

PMID:
19141356
10.

Clinical and molecular findings of ataxia with oculomotor apraxia type 2 (AOA2) in 5 Tunisian families.

Hammer MB, El Euch-Fayache G, Nehdi H, Saidi D, Nasri A, Nabli F, Bouhlal Y, Maamouri-Hicheri W, Hentati F, Amouri R.

Diagn Mol Pathol. 2012 Dec;21(4):241-5. doi: 10.1097/PDM.0b013e318257ad9a.

PMID:
23111195
11.

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.

12.

Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2.

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.

Hum Mol Genet. 2014 Sep 15;23(18):4758-69. doi: 10.1093/hmg/ddu190. Epub 2014 Apr 23.

PMID:
24760770
13.

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

Schöls L, Arning L, Schüle R, Epplen JT, Timmann D.

J Neurol. 2008 Apr;255(4):495-501. doi: 10.1007/s00415-008-0707-z. Epub 2008 Mar 20.

PMID:
18350359
14.

[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
15.

A novel nonsense mutation in a Japanese family with ataxia with oculomotor apraxia type 2 (AOA2).

Nakamura K, Yoshida K, Makishita H, Kitamura E, Hashimoto S, Ikeda S.

J Hum Genet. 2009 Dec;54(12):746-8. doi: 10.1038/jhg.2009.104. Epub 2009 Nov 6.

PMID:
19893583
16.

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

Nicolaou P, Georghiou A, Votsi C, Middleton LT, Zamba-Papanicolaou E, Christodoulou K.

BMC Med Genet. 2008 Apr 14;9:28. doi: 10.1186/1471-2350-9-28.

17.

Clinical and molecular findings of ataxia with oculomotor apraxia type 2 in 4 families.

Anheim M, Fleury MC, Franques J, Moreira MC, Delaunoy JP, Stoppa-Lyonnet D, Koenig M, Tranchant C.

Arch Neurol. 2008 Jul;65(7):958-62. doi: 10.1001/archneur.65.7.958.

PMID:
18625865
18.

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

Arning L, Schöls L, Cin H, Souquet M, Epplen JT, Timmann D.

Neurogenetics. 2008 Oct;9(4):295-9. doi: 10.1007/s10048-008-0139-z. Epub 2008 Jul 29.

PMID:
18663494
19.

Functional role for senataxin, defective in ataxia oculomotor apraxia type 2, in transcriptional regulation.

Suraweera A, Lim Y, Woods R, Birrell GW, Nasim T, Becherel OJ, Lavin MF.

Hum Mol Genet. 2009 Sep 15;18(18):3384-96. doi: 10.1093/hmg/ddp278. Epub 2009 Jun 10.

20.

A new SETX mutation producing AOA2 in two siblings.

Datta N, Hohler A.

Int J Neurosci. 2013 Sep;123(9):670-3. doi: 10.3109/00207454.2013.787616. Epub 2013 Apr 29.

PMID:
23566282
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