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226 related items for PubMed ID: 19893583

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. 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
    [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 15; 278(1-2):77-81. PubMed ID: 19141356
    [Abstract] [Full Text] [Related]

  • 4. 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 15; 65(7):958-62. PubMed ID: 18625865
    [Abstract] [Full Text] [Related]

  • 5. Clinical and molecular findings of ataxia with oculomotor apraxia type 2 (AOA2) in 5 Tunisian families.
    Hammer MB, El Euch-Fayache G, Nehdi H, Saidi D, Nasri A, Nabli F, Bouhlal Y, Maamouri-Hicheri W, Hentati F, Amouri R.
    Diagn Mol Pathol; 2012 Dec 15; 21(4):241-5. PubMed ID: 23111195
    [Abstract] [Full Text] [Related]

  • 6. "Pseudodominant inheritance" of ataxia with ocular apraxia type 2 (AOA2).
    Schöls L, Arning L, Schüle R, Epplen JT, Timmann D.
    J Neurol; 2008 Apr 15; 255(4):495-501. PubMed ID: 18350359
    [Abstract] [Full Text] [Related]

  • 7. 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 15; 127(Pt 4):759-67. PubMed ID: 14736755
    [Abstract] [Full Text] [Related]

  • 8. 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 23; 66(10):1580-1. PubMed ID: 16717225
    [Abstract] [Full Text] [Related]

  • 9. 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 23; 57(3):408-14. PubMed ID: 15732101
    [Abstract] [Full Text] [Related]

  • 10. SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein.
    Nanetti L, Cavalieri S, Pensato V, Erbetta A, Pareyson D, Panzeri M, Zorzi G, Antozzi C, Moroni I, Gellera C, Brusco A, Mariotti C.
    Orphanet J Rare Dis; 2013 Aug 14; 8():123. PubMed ID: 23941260
    [Abstract] [Full Text] [Related]

  • 11. 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 14; 39(6):347-50. PubMed ID: 19569000
    [Abstract] [Full Text] [Related]

  • 12. 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 14; 36(3):225-7. PubMed ID: 14770181
    [Abstract] [Full Text] [Related]

  • 13. 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 14; 33(2):351-4. PubMed ID: 22065524
    [Abstract] [Full Text] [Related]

  • 14. Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study.
    Criscuolo C, Chessa L, Di Giandomenico S, Mancini P, Saccà F, Grieco GS, Piane M, Barbieri F, De Michele G, Banfi S, Pierelli F, Rizzuto N, Santorelli FM, Gallosti L, Filla A, Casali C.
    Neurology; 2006 Apr 25; 66(8):1207-10. PubMed ID: 16636238
    [Abstract] [Full Text] [Related]

  • 15. Sensory neuronopathy in ataxia with oculomotor apraxia type 2.
    Gazulla J, Benavente I, López-Fraile IP, Tordesillas C, Modrego P, Alonso I, Pinto-Basto J.
    J Neurol Sci; 2010 Nov 15; 298(1-2):118-20. PubMed ID: 20869730
    [Abstract] [Full Text] [Related]

  • 16. 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 15; 331(1-2):158-60. PubMed ID: 23786967
    [Abstract] [Full Text] [Related]

  • 17. 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 15; 17(11-12):968-9. PubMed ID: 17720498
    [Abstract] [Full Text] [Related]

  • 18. 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 15; 126(Pt 12):2761-72. PubMed ID: 14506070
    [Abstract] [Full Text] [Related]

  • 19. 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]

  • 20. 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 Feb 16; 59(1-2):18-23. PubMed ID: 17917453
    [Abstract] [Full Text] [Related]

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