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Results: 1 to 20 of 104

1.

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
[PubMed - indexed for MEDLINE]
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.

PMID:
23941260
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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
[PubMed - indexed for MEDLINE]
4.

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
[PubMed - indexed for MEDLINE]
5.

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
[PubMed - indexed for MEDLINE]
6.

"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
[PubMed - indexed for MEDLINE]
7.

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
8.

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.

PMID:
18405395
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

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
[PubMed - indexed for MEDLINE]
10.

Ataxia with oculomotor apraxia type 2: novel mutations in six patients with juvenile age of onset and elevated serum alpha-fetoprotein.

Bernard V, Stricker S, Kreuz F, Minnerop M, Gillessen-Kaesbach G, Zühlke C.

Neuropediatrics. 2008 Dec;39(6):347-50. doi: 10.1055/s-0029-1214424. Epub 2009 Jun 30.

PMID:
19569000
[PubMed - indexed for MEDLINE]
11.

[Ataxia with oculomotor apraxia: clinical-genetic characteristics and DNA-diagnostic].

Rudenskaia GE, Kurkina MV, Zakharova EIu.

Zh Nevrol Psikhiatr Im S S Korsakova. 2012;112(10):58-63. Russian.

PMID:
23250602
[PubMed - indexed for MEDLINE]
12.

Novel mutations in ataxia telangiectasia and AOA2 associated with prolonged survival.

Davis MY, Keene CD, Swanson PD, Sheehy C, Bird TD.

J Neurol Sci. 2013 Dec 15;335(1-2):134-8. doi: 10.1016/j.jns.2013.09.014. Epub 2013 Sep 17.

PMID:
24090759
[PubMed - indexed for MEDLINE]
13.

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.

PMID:
19744353
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

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.

PMID:
19696032
[PubMed - indexed for MEDLINE]
Free Article
15.

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
[PubMed - indexed for MEDLINE]
16.

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
[PubMed - indexed for MEDLINE]
17.

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
[PubMed - indexed for MEDLINE]
18.

[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
[PubMed - indexed for MEDLINE]
19.

Autosomal recessive ataxia with peripheral neuropathy and elevated AFP: novel mutations in SETX.

Asaka T, Yokoji H, Ito J, Yamaguchi K, Matsushima A.

Neurology. 2006 May 23;66(10):1580-1.

PMID:
16717225
[PubMed - indexed for MEDLINE]
20.

A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia.

Al Tassan N, Khalil D, Shinwari J, Al Sharif L, Bavi P, Abduljaleel Z, Abu Dhaim N, Magrashi A, Bobis S, Ahmed H, Alahmed S, Bohlega S.

Hum Mutat. 2012 Feb;33(2):351-4. doi: 10.1002/humu.21650. Epub 2011 Dec 8.

PMID:
22065524
[PubMed - indexed for MEDLINE]

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