401 related articles for article (PubMed ID: 14770181)
1. Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.
Moreira MC; Klur S; Watanabe M; Németh AH; Le Ber I; Moniz JC; Tranchant C; Aubourg P; Tazir M; Schöls 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; Guimarães J; Mendonça P; Barbot C; Coutinho P; Sequeiros J; Dürr A; Warter JM; Koenig M
Nat Genet; 2004 Mar; 36(3):225-7. PubMed ID: 14770181
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 19696032
[TBL] [Abstract][Full Text] [Related]
3. 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; 278(1-2):77-81. PubMed ID: 19141356
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 19893583
[TBL] [Abstract][Full Text] [Related]
5. Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy.
Duquette A; Roddier K; McNabb-Baltar J; Gosselin I; St-Denis A; Dicaire MJ; Loisel L; Labuda D; Marchand L; Mathieu J; Bouchard JP; Brais B
Ann Neurol; 2005 Mar; 57(3):408-14. PubMed ID: 15732101
[TBL] [Abstract][Full Text] [Related]
6. Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies.
Le Ber I; Moreira MC; Rivaud-Péchoux S; Chamayou C; Ochsner F; Kuntzer T; Tardieu M; Saïd G; Habert MO; Demarquay G; Tannier C; Beis JM; Brice A; Koenig M; Dürr A
Brain; 2003 Dec; 126(Pt 12):2761-72. PubMed ID: 14506070
[TBL] [Abstract][Full Text] [Related]
7. 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; 8():123. PubMed ID: 23941260
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 19569000
[TBL] [Abstract][Full Text] [Related]
9. Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients.
Le Ber I; Bouslam N; Rivaud-Péchoux S; Guimarães J; Benomar A; Chamayou C; Goizet C; Moreira MC; Klur S; Yahyaoui M; Agid Y; Koenig M; Stevanin G; Brice A; Dürr A
Brain; 2004 Apr; 127(Pt 4):759-67. PubMed ID: 14736755
[TBL] [Abstract][Full Text] [Related]
10. Identification of novel senataxin mutations in Chinese patients with autosomal recessive cerebellar ataxias by targeted next-generation sequencing.
Lu C; Zheng YC; Dong Y; Li HF
BMC Neurol; 2016 Sep; 16(1):179. PubMed ID: 27644330
[TBL] [Abstract][Full Text] [Related]
11. Ataxia-oculomotor apraxia 2 patients show no increased sensitivity to ionizing radiation.
Nahas SA; Duquette A; Roddier K; Gatti RA; Brais B
Neuromuscul Disord; 2007 Dec; 17(11-12):968-9. PubMed ID: 17720498
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 18625865
[TBL] [Abstract][Full Text] [Related]
13. 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; 66(10):1580-1. PubMed ID: 16717225
[TBL] [Abstract][Full Text] [Related]
14. 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; 9():28. PubMed ID: 18405395
[TBL] [Abstract][Full Text] [Related]
15. Saccharomyces cerevisiae Sen1 as a model for the study of mutations in human Senataxin that elicit cerebellar ataxia.
Chen X; Müller U; Sundling KE; Brow DA
Genetics; 2014 Oct; 198(2):577-90. PubMed ID: 25116135
[TBL] [Abstract][Full Text] [Related]
16. "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. PubMed ID: 18350359
[TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 23111195
[TBL] [Abstract][Full Text] [Related]
18. 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. PubMed ID: 24183476
[TBL] [Abstract][Full Text] [Related]
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; 18(18):3384-96. PubMed ID: 19515850
[TBL] [Abstract][Full Text] [Related]
20. Senataxin, the yeast Sen1p orthologue: characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease.
Chen YZ; Hashemi SH; Anderson SK; Huang Y; Moreira MC; Lynch DR; Glass IA; Chance PF; Bennett CL
Neurobiol Dis; 2006 Jul; 23(1):97-108. PubMed ID: 16644229
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
