209 related articles for article (PubMed ID: 17720498)
41. Clinical and Genetic Characterization of Brazilian Patients with Ataxia and Oculomotor Apraxia.
da Costa SCG; Rezende Filho FM; de Freitas JL; de Assis Pereira Matos PCA; Della-Ripa B; França MC; Marques W; Santos M; Cronemberger IVB; Vale TC; Kok F; Alonso I; Pedroso JL; Barsottini OGP
Mov Disord; 2022 Jun; 37(6):1309-1316. PubMed ID: 35426160
[TBL] [Abstract][Full Text] [Related]
42. Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene.
Date H; Onodera O; Tanaka H; Iwabuchi K; Uekawa K; Igarashi S; Koike R; Hiroi T; Yuasa T; Awaya Y; Sakai T; Takahashi T; Nagatomo H; Sekijima Y; Kawachi I; Takiyama Y; Nishizawa M; Fukuhara N; Saito K; Sugano S; Tsuji S
Nat Genet; 2001 Oct; 29(2):184-8. PubMed ID: 11586299
[TBL] [Abstract][Full Text] [Related]
43. Ovarian failure in ataxia with oculomotor apraxia type 2.
Lynch DR; Braastad CD; Nagan N
Am J Med Genet A; 2007 Aug; 143A(15):1775-7. PubMed ID: 17593543
[TBL] [Abstract][Full Text] [Related]
44. Aberrant splicing of the senataxin gene in a patient with ataxia with oculomotor apraxia type 2.
Fogel BL; Lee JY; Perlman S
Cerebellum; 2009 Dec; 8(4):448-53. PubMed ID: 19727998
[TBL] [Abstract][Full Text] [Related]
45. Severe generalized dystonia as a presentation of a patient with aprataxin gene mutation.
Sekijima Y; Hashimoto T; Onodera O; Date H; Okano T; Naito K; Tsuji S; Ikeda S
Mov Disord; 2003 Oct; 18(10):1198-200. PubMed ID: 14534929
[TBL] [Abstract][Full Text] [Related]
46. Novel splice variants increase molecular diversity of aprataxin, the gene responsible for early-onset ataxia with ocular motor apraxia and hypoalbuminemia.
Hirano M; Nishiwaki T; Kariya S; Furiya Y; Kawahara M; Ueno S
Neurosci Lett; 2004 Aug; 366(2):120-5. PubMed ID: 15276230
[TBL] [Abstract][Full Text] [Related]
47. Sensorimotor neuronopathy in ataxia with oculomotor apraxia type 2.
Gazulla J; Benavente I; López-Fraile IP; Modrego P; Koenig M
Muscle Nerve; 2009 Sep; 40(3):481-5. PubMed ID: 19618424
[TBL] [Abstract][Full Text] [Related]
48. Familial cognitive impairment with ataxia with oculomotor apraxia.
Mahajnah M; Basel-Vanagaite L; Inbar D; Kornreich L; Weitz R; Straussberg R
J Child Neurol; 2005 Jun; 20(6):523-5. PubMed ID: 15996403
[TBL] [Abstract][Full Text] [Related]
49. Germ cell arrest associated with aSETX mutation in ataxia oculomotor apraxia type 2.
Catford SR; O'Bryan MK; McLachlan RI; Delatycki MB; Rombauts L
Reprod Biomed Online; 2019 Jun; 38(6):961-965. PubMed ID: 30642639
[TBL] [Abstract][Full Text] [Related]
50. 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; 23(18):4758-69. PubMed ID: 24760770
[TBL] [Abstract][Full Text] [Related]
51. Exome analysis reveals a Japanese family with spinocerebellar ataxia, autosomal recessive 1.
Ichikawa Y; Ishiura H; Mitsui J; Takahashi Y; Kobayashi S; Takuma H; Kanazawa I; Doi K; Yoshimura J; Morishita S; Goto J; Tsuji S
J Neurol Sci; 2013 Aug; 331(1-2):158-60. PubMed ID: 23786967
[TBL] [Abstract][Full Text] [Related]
52. Ataxia telangiectasia presenting as an extrapyramidal movement disorder and ocular motor apraxia without overt telangiectasia.
Churchyard A; Stell R; Mastaglia FL
Clin Exp Neurol; 1991; 28():90-6. PubMed ID: 1726561
[TBL] [Abstract][Full Text] [Related]
53. 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; 10():87. PubMed ID: 19744353
[TBL] [Abstract][Full Text] [Related]
54. 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. PubMed ID: 19593598
[TBL] [Abstract][Full Text] [Related]
55. Integrated genome and transcriptome analyses reveal the mechanism of genome instability in ataxia with oculomotor apraxia 2.
Kanagaraj R; Mitter R; Kantidakis T; Edwards MM; Benitez A; Chakravarty P; Fu B; Becherel O; Yang F; Lavin MF; Koren A; Stewart A; West SC
Proc Natl Acad Sci U S A; 2022 Jan; 119(4):. PubMed ID: 35042798
[TBL] [Abstract][Full Text] [Related]
56. Short-patch single-strand break repair in ataxia oculomotor apraxia-1.
Reynolds JJ; El-Khamisy SF; Caldecott KW
Biochem Soc Trans; 2009 Jun; 37(Pt 3):577-81. PubMed ID: 19442253
[TBL] [Abstract][Full Text] [Related]
57. 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. PubMed ID: 18663494
[TBL] [Abstract][Full Text] [Related]
58. Chromosomal radiosensitivity in two cell lineages derived from clinically radiosensitive cancer patients.
Sprung CN; Chao M; Leong T; McKay MJ
Clin Cancer Res; 2005 Sep; 11(17):6352-8. PubMed ID: 16144940
[TBL] [Abstract][Full Text] [Related]
59. Heterozygous deletion in exon 6 of
Kinkar JS; Jameel PZ; Kumawat BL; Kalbhor P
BMJ Case Rep; 2021 Jun; 14(6):. PubMed ID: 34193451
[TBL] [Abstract][Full Text] [Related]
60. Phenotypic variability of aprataxin gene mutations.
Tranchant C; Fleury M; Moreira MC; Koenig M; Warter JM
Neurology; 2003 Mar; 60(5):868-70. PubMed ID: 12629250
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]