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Journal Abstract Search

179 related items for PubMed ID: 16961074

  • 1. Spinocerebellar ataxia with ocular motor apraxia and DNA repair.
    Onodera O.
    Neuropathology; 2006 Aug; 26(4):361-7. PubMed ID: 16961074
    [Abstract] [Full Text] [Related]

  • 2. 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 Aug; 59(1-2):18-23. PubMed ID: 17917453
    [Abstract] [Full Text] [Related]

  • 3. 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 Aug; 685():21-33. PubMed ID: 20687492
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  • 5. Type 1 ataxia with oculomotor apraxia with aprataxin gene mutations in two American children.
    Tsao CY, Paulson G.
    J Child Neurol; 2005 Jul; 20(7):619-20. PubMed ID: 16159533
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. 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 27; 59(4):590-5. PubMed ID: 12196655
    [Abstract] [Full Text] [Related]

  • 8. 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 27; 126(Pt 12):2761-72. PubMed ID: 14506070
    [Abstract] [Full Text] [Related]

  • 9. Complex Movement Disorders in Ataxia with Oculomotor Apraxia Type 1: Beyond the Cerebellar Syndrome.
    Pedroso JL, Vale TC, da Costa SCG, Santos M, Alonso I, Barsottini OGP.
    Tremor Other Hyperkinet Mov (N Y); 2020 Oct 07; 10():39. PubMed ID: 33101765
    [Abstract] [Full Text] [Related]

  • 10. New autosomal recessive cerebellar ataxias with oculomotor apraxia.
    Le Ber I, Brice A, Dürr A.
    Curr Neurol Neurosci Rep; 2005 Sep 07; 5(5):411-7. PubMed ID: 16131425
    [Abstract] [Full Text] [Related]

  • 11. Immunological abnormalities in patients with early-onset ataxia with ocular motor apraxia and hypoalbuminemia.
    Kato T, Tamura Y, Matsumoto H, Kobayashi O, Ishiguro H, Ogawa M, Tsujikawa K, Hasegawa Y, Sakamoto M, Konagaya M, Houzen H, Takagi M, Imai K, Morio T, Yokoseki A, Onodera O, Nonoyama S.
    Clin Immunol; 2021 Aug 07; 229():108776. PubMed ID: 34118401
    [Abstract] [Full Text] [Related]

  • 12. Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi Arabia.
    Bohlega SA, Shinwari JM, Al Sharif LJ, Khalil DS, Alkhairallah TS, Al Tassan NA.
    BMC Med Genet; 2011 Feb 16; 12():27. PubMed ID: 21324166
    [Abstract] [Full Text] [Related]

  • 13. [Autosomal recessive cerebellar ataxias with oculomotor apraxia].
    Le Ber I, Rivaud-Péchoux S, Brice A, Dürr A.
    Rev Neurol (Paris); 2006 Feb 16; 162(2):177-84. PubMed ID: 16518257
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  • 15. 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]

  • 16. A subgroup of spinocerebellar ataxias defective in DNA damage responses.
    Gueven N, Chen P, Nakamura J, Becherel OJ, Kijas AW, Grattan-Smith P, Lavin MF.
    Neuroscience; 2007 Apr 14; 145(4):1418-25. PubMed ID: 17224243
    [Abstract] [Full Text] [Related]

  • 17. Atypical presentation of ataxia-oculomotor apraxia type 1.
    Shahwan A, Byrd PJ, Taylor AM, Nestor T, Ryan S, King MD.
    Dev Med Child Neurol; 2006 Jun 14; 48(6):529-32. PubMed ID: 16700949
    [Abstract] [Full Text] [Related]

  • 18. 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 14; 68(2):501-8. PubMed ID: 11170899
    [Abstract] [Full Text] [Related]

  • 19. Defective DNA repair and neurodegenerative disease.
    Rass U, Ahel I, West SC.
    Cell; 2007 Sep 21; 130(6):991-1004. PubMed ID: 17889645
    [Abstract] [Full Text] [Related]

  • 20. 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 21; 18(10):1198-200. PubMed ID: 14534929
    [Abstract] [Full Text] [Related]

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