201 related articles for article (PubMed ID: 29356829)
21. Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations.
Shimazaki H; Takiyama Y; Sakoe K; Ikeguchi K; Niijima K; Kaneko J; Namekawa M; Ogawa T; Date H; Tsuji S; Nakano I; Nishizawa M
Neurology; 2002 Aug; 59(4):590-5. PubMed ID: 12196655
[TBL] [Abstract][Full Text] [Related]
22. Early-onset ataxia with ocular motor apraxia and hypoalbuminemia/ataxia with oculomotor apraxia 1.
Tada M; Yokoseki A; Sato T; Makifuchi T; Onodera O
Adv Exp Med Biol; 2010; 685():21-33. PubMed ID: 20687492
[TBL] [Abstract][Full Text] [Related]
23. [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. PubMed ID: 23250602
[TBL] [Abstract][Full Text] [Related]
24. 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]
25. Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity.
Moreira MC; Barbot C; Tachi N; Kozuka N; Mendonça P; Barros J; Coutinho P; Sequeiros J; Koenig M
Am J Hum Genet; 2001 Feb; 68(2):501-8. PubMed ID: 11170899
[TBL] [Abstract][Full Text] [Related]
26. 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]
27. [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. PubMed ID: 16518257
[TBL] [Abstract][Full Text] [Related]
28. [Mutation of the aprataxin gene presenting with Charcot-Marie-Tooth-like neuropathy and cerebellar ataxia].
Ochsner F; Le Ber I; Said G; Moreira MC; Michel P; Koenig M; Dürr A; Brice A; Kuntzer T
Rev Neurol (Paris); 2005 Mar; 161(3):331-6. PubMed ID: 15800456
[TBL] [Abstract][Full Text] [Related]
29. Aprataxin gene mutations in Tunisian families.
Amouri R; Moreira MC; Zouari M; El Euch G; Barhoumi C; Kefi M; Belal S; Koenig M; Hentati F
Neurology; 2004 Sep; 63(5):928-9. PubMed ID: 15365154
[TBL] [Abstract][Full Text] [Related]
30. Purkinje cell loss in the cerebellar flocculus in patients with ataxia with ocular motor apraxia type 1/early-onset ataxia with ocular motor apraxia and hypoalbuminemia.
Sugawara M; Wada C; Okawa S; Kobayashi M; Sageshima M; Imota T; Toyoshima I
Eur Neurol; 2008; 59(1-2):18-23. PubMed ID: 17917453
[TBL] [Abstract][Full Text] [Related]
31. 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]
32. 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]
33. 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]
34. A novel nonsense mutation in the APTX gene associated with delayed DNA single-strand break removal fails to enhance sensitivity to different genotoxic agents.
Crimella C; Cantoni O; Guidarelli A; Vantaggiato C; Martinuzzi A; Fiorani M; Azzolini C; Orso G; Bresolin N; Bassi MT
Hum Mutat; 2011 Apr; 32(4):E2118-33. PubMed ID: 21412945
[TBL] [Abstract][Full Text] [Related]
35. The ataxia-oculomotor apraxia 1 gene product has a role distinct from ATM and interacts with the DNA strand break repair proteins XRCC1 and XRCC4.
Clements PM; Breslin C; Deeks ED; Byrd PJ; Ju L; Bieganowski P; Brenner C; Moreira MC; Taylor AM; Caldecott KW
DNA Repair (Amst); 2004 Nov; 3(11):1493-502. PubMed ID: 15380105
[TBL] [Abstract][Full Text] [Related]
36. 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]
37. Aprataxin mutations are a rare cause of early onset ataxia in Germany.
Habeck M; Zühlke C; Bentele KH; Unkelbach S; Kress W; Bürk K; Schwinger E; Hellenbroich Y
J Neurol; 2004 May; 251(5):591-4. PubMed ID: 15164193
[TBL] [Abstract][Full Text] [Related]
38. Aprataxin, causative gene product for EAOH/AOA1, repairs DNA single-strand breaks with damaged 3'-phosphate and 3'-phosphoglycolate ends.
Takahashi T; Tada M; Igarashi S; Koyama A; Date H; Yokoseki A; Shiga A; Yoshida Y; Tsuji S; Nishizawa M; Onodera O
Nucleic Acids Res; 2007; 35(11):3797-809. PubMed ID: 17519253
[TBL] [Abstract][Full Text] [Related]
39. New autosomal recessive cerebellar ataxias with oculomotor apraxia.
Le Ber I; Brice A; Dürr A
Curr Neurol Neurosci Rep; 2005 Sep; 5(5):411-7. PubMed ID: 16131425
[TBL] [Abstract][Full Text] [Related]
40.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Previous] [Next] [New Search]