208 related articles for article (PubMed ID: 17720498)
1. 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]
2. 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]
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. 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]
6. Early-onset ataxia with oculomotor apraxia with a novel APTX mutation.
Ito A; Yamagata T; Mori M; Momoi MY
Pediatr Neurol; 2005 Jul; 33(1):53-6. PubMed ID: 15876520
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. Ataxia oculomotor apraxia type 2: course over 27 years and a novel stop mutation in the senataxin gene.
Haack T; Friday D; Bender A; Rolfs A; Klopstock T
J Neurol; 2009 Sep; 256(9):1555-7. PubMed ID: 19377860
[No Abstract] [Full Text] [Related]
10. 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]
11. 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]
12. Ataxia-oculomotor apraxia syndrome.
Gascon GG; Abdo N; Sigut D; Hemidan A; Hannan MA
J Child Neurol; 1995 Mar; 10(2):118-22. PubMed ID: 7782601
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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. PubMed ID: 22065524
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Novel mutations in the senataxin DNA/RNA helicase domain in ataxia with oculomotor apraxia 2.
Fogel BL; Perlman S
Neurology; 2006 Dec; 67(11):2083-4. PubMed ID: 17159128
[No Abstract] [Full Text] [Related]
17. Radiosensitivity of ataxia-telangiectasia, X-linked agammaglobulinemia, and related syndromes using a modified colony survival assay.
Huo YK; Wang Z; Hong JH; Chessa L; McBride WH; Perlman SL; Gatti RA
Cancer Res; 1994 May; 54(10):2544-7. PubMed ID: 8168076
[TBL] [Abstract][Full Text] [Related]
18. Ataxia-telangiectasia, an evolving phenotype.
Chun HH; Gatti RA
DNA Repair (Amst); 2004; 3(8-9):1187-96. PubMed ID: 15279807
[TBL] [Abstract][Full Text] [Related]
19. Genotype-phenotype correlations in early onset ataxia with ocular motor apraxia and hypoalbuminaemia.
Yokoseki A; Ishihara T; Koyama A; Shiga A; Yamada M; Suzuki C; Sekijima Y; Maruta K; Tsuchiya M; Date H; Sato T; Tada M; Ikeuchi T; Tsuji S; Nishizawa M; Onodera O
Brain; 2011 May; 134(Pt 5):1387-99. PubMed ID: 21486904
[TBL] [Abstract][Full Text] [Related]
20. Ataxia with oculomotor apraxia.
Liu W; Narayanan V
Semin Pediatr Neurol; 2008 Dec; 15(4):216-20. PubMed ID: 19073331
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
