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Journal Abstract Search

142 related items for PubMed ID: 19377860

  • 1. Ataxia oculomotor apraxia type 2: course over 27 years and a novel stop mutation in the senataxin gene.
    Haack T, Friday D, Bender A, Rolfs A, Klopstock T.
    J Neurol; 2009 Sep; 256(9):1555-7. PubMed ID: 19377860
    [No Abstract] [Full Text] [Related]

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

  • 3. 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; 17(11-12):968-9. PubMed ID: 17720498
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. 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 25; 54(12):746-8. PubMed ID: 19893583
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. 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 15; 8(4):448-53. PubMed ID: 19727998
    [Abstract] [Full Text] [Related]

  • 8. Novel mutations in the senataxin DNA/RNA helicase domain in ataxia with oculomotor apraxia 2.
    Fogel BL, Perlman S.
    Neurology; 2006 Dec 12; 67(11):2083-4. PubMed ID: 17159128
    [No Abstract] [Full Text] [Related]

  • 9. 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 12; 9(4):295-9. PubMed ID: 18663494
    [Abstract] [Full Text] [Related]

  • 10. 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 15; 23(18):4758-69. PubMed ID: 24760770
    [Abstract] [Full Text] [Related]

  • 11. Type 1 ataxia with oculomotor apraxia with aprataxin gene mutations in two American children.
    Tsao CY, Paulson G.
    J Child Neurol; 2005 Jul 15; 20(7):619-20. PubMed ID: 16159533
    [Abstract] [Full Text] [Related]

  • 12. 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]

  • 13. 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 15; 38(6):961-965. PubMed ID: 30642639
    [Abstract] [Full Text] [Related]

  • 14. A case of an African American man with ataxia and oculomotor apraxia 2.
    Trikamji B, Parziale N, Rafiei N, Freundlich R, Mishra S.
    J Clin Neuromuscul Dis; 2014 Sep 15; 16(1):43-6. PubMed ID: 25137517
    [No Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. Exploring the Pathogenicity of SETX I1942T Variant in Ataxia with Oculomotor Apraxia Type 2 Through Segregation Analysis.
    Ros-Arlanzón P, Serrano-Serrano B, Aledo-Sala C, Guevara-Dalrymple N, Martí-Martínez S.
    Mov Disord Clin Pract; 2024 Aug 14; 11(8):1041-1043. PubMed ID: 38817201
    [No Abstract] [Full Text] [Related]

  • 17. 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 14; 57(3):408-14. PubMed ID: 15732101
    [Abstract] [Full Text] [Related]

  • 18. 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 25; 119(4):. PubMed ID: 35042798
    [Abstract] [Full Text] [Related]

  • 19. 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 25; 68(2):501-8. PubMed ID: 11170899
    [Abstract] [Full Text] [Related]

  • 20. 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 25; 132(Pt 10):2688-98. PubMed ID: 19696032
    [Abstract] [Full Text] [Related]

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