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Journal Abstract Search

174 related items for PubMed ID: 20687492

  • 21. 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 02; 3(11):1493-502. PubMed ID: 15380105
    [Abstract] [Full Text] [Related]

  • 22. Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1.
    Renaud M, Moreira MC, Ben Monga B, Rodriguez D, Debs R, Charles P, Chaouch M, Ferrat F, Laurencin C, Vercueil L, Mallaret M, M'Zahem A, Pacha LA, Tazir M, Tilikete C, Ollagnon E, Ochsner F, Kuntzer T, Jung HH, Beis JM, Netter JC, Djamshidian A, Bower M, Bottani A, Walsh R, Murphy S, Reiley T, Bieth É, Roelens F, Poll-The BT, Lourenço CM, Jardim LB, Straussberg R, Landrieu P, Roze E, Thobois S, Pouget J, Guissart C, Goizet C, Dürr A, Tranchant C, Koenig M, Anheim M.
    JAMA Neurol; 2018 Apr 01; 75(4):495-502. PubMed ID: 29356829
    [Abstract] [Full Text] [Related]

  • 23. A novel mutation of aprataxin associated with ataxia ocular apraxia type 1: phenotypical and genotypical characterization.
    Ferrarini M, Squintani G, Cavallaro T, Ferrari S, Rizzuto N, Fabrizi GM.
    J Neurol Sci; 2007 Sep 15; 260(1-2):219-24. PubMed ID: 17572444
    [Abstract] [Full Text] [Related]

  • 24. APTX acts in DNA double-strand break repair in a manner distinct from XRCC4.
    Imamura R, Saito M, Shimada M, Kobayashi J, Ishiai M, Matsumoto Y.
    J Radiat Res; 2023 May 25; 64(3):485-495. PubMed ID: 36940705
    [Abstract] [Full Text] [Related]

  • 25. Early-onset ataxia with oculomotor apraxia with a novel APTX mutation.
    Ito A, Yamagata T, Mori M, Momoi MY.
    Pediatr Neurol; 2005 Jul 25; 33(1):53-6. PubMed ID: 15876520
    [Abstract] [Full Text] [Related]

  • 26. Synergistic decrease of DNA single-strand break repair rates in mouse neural cells lacking both Tdp1 and aprataxin.
    El-Khamisy SF, Katyal S, Patel P, Ju L, McKinnon PJ, Caldecott KW.
    DNA Repair (Amst); 2009 Jun 04; 8(6):760-6. PubMed ID: 19303373
    [Abstract] [Full Text] [Related]

  • 27. Defective DNA ligation during short-patch single-strand break repair in ataxia oculomotor apraxia 1.
    Reynolds JJ, El-Khamisy SF, Katyal S, Clements P, McKinnon PJ, Caldecott KW.
    Mol Cell Biol; 2009 Mar 04; 29(5):1354-62. PubMed ID: 19103743
    [Abstract] [Full Text] [Related]

  • 28. Ataxia with oculomotor apraxia type 1 (AOA1): clinical and neuropsychological features in 2 new patients and differential diagnosis.
    D'Arrigo S, Riva D, Bulgheroni S, Chiapparini L, Castellotti B, Gellera C, Pantaleoni C.
    J Child Neurol; 2008 Aug 04; 23(8):895-900. PubMed ID: 18403580
    [Abstract] [Full Text] [Related]

  • 29. 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 12; 366(2):120-5. PubMed ID: 15276230
    [Abstract] [Full Text] [Related]

  • 30. The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin.
    Moreira MC, Barbot C, Tachi N, Kozuka N, Uchida E, Gibson T, Mendonça P, Costa M, Barros J, Yanagisawa T, Watanabe M, Ikeda Y, Aoki M, Nagata T, Coutinho P, Sequeiros J, Koenig M.
    Nat Genet; 2001 Oct 12; 29(2):189-93. PubMed ID: 11586300
    [Abstract] [Full Text] [Related]

  • 31. Aprataxin (APTX) gene mutations resembling multiple system atrophy.
    Baba Y, Uitti RJ, Boylan KB, Uehara Y, Yamada T, Farrer MJ, Couchon E, Batish SD, Wszolek ZK.
    Parkinsonism Relat Disord; 2007 Apr 12; 13(3):139-42. PubMed ID: 17049295
    [Abstract] [Full Text] [Related]

  • 32. Aprataxin, a novel protein that protects against genotoxic stress.
    Gueven N, Becherel OJ, Kijas AW, Chen P, Howe O, Rudolph JH, Gatti R, Date H, Onodera O, Taucher-Scholz G, Lavin MF.
    Hum Mol Genet; 2004 May 15; 13(10):1081-93. PubMed ID: 15044383
    [Abstract] [Full Text] [Related]

  • 33. [Molecular mechanism for spinocerebellar ataxias].
    Onodera O.
    Rinsho Shinkeigaku; 2009 Jan 15; 49(1):1-8. PubMed ID: 19227889
    [Abstract] [Full Text] [Related]

  • 34. 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 15; 20(6):523-5. PubMed ID: 15996403
    [Abstract] [Full Text] [Related]

  • 35. Generation and characterization of induced pluripotent stem cell (iPSC) line (JUCTCi002-A) from a patient with ataxia with oculomotor apraxia type 1 (AOA1) harboring a homozygous mutation in the APTX gene.
    Ababneh NA, Al-Kurdi B, Ali D, Abuarqoub D, Barham R, Alzibdeh AM, Khanfar AN, Altantawi AM, Ryalat AT, Sharrack B, Awidi A.
    Stem Cell Res; 2020 Oct 15; 48():101925. PubMed ID: 32769066
    [Abstract] [Full Text] [Related]

  • 36. 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 15; 134(Pt 5):1387-99. PubMed ID: 21486904
    [Abstract] [Full Text] [Related]

  • 37. Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1.
    van Minkelen R, Guitart M, Escofet C, Yoon G, Elfferich P, Bolman GM, van der Helm R, van de Graaf R, van den Ouweland AM.
    BMC Med Genet; 2015 Aug 19; 16():61. PubMed ID: 26285866
    [Abstract] [Full Text] [Related]

  • 38. Ataxia with oculomotor apraxia type 1 associated with mutation in the APTX gene: A case study and literature review.
    Albaradie R, Alharbi A, Alsaffar G, Alhamad B, Bashir S.
    Exp Ther Med; 2022 Dec 19; 24(6):709. PubMed ID: 36382100
    [Abstract] [Full Text] [Related]

  • 39. 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 19; 126(Pt 12):2761-72. PubMed ID: 14506070
    [Abstract] [Full Text] [Related]

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