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Journal Abstract Search

232 related items for PubMed ID: 23111195

  • 1. 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; 21(4):241-5. PubMed ID: 23111195
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. 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]

  • 4. 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 15; 132(Pt 10):2688-98. PubMed ID: 19696032
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. 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 16; 65(7):958-62. PubMed ID: 18625865
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 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. 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]

  • 10. 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]

  • 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. Novel SETX variants in a patient with ataxia, neuropathy, and oculomotor apraxia are associated with normal sensitivity to oxidative DNA damaging agents.
    Vantaggiato C, Cantoni O, Guidarelli A, Romaniello R, Citterio A, Arrigoni F, Doneda C, Castelli M, Airoldi G, Bresolin N, Borgatti R, Bassi MT.
    Brain Dev; 2014 Sep 14; 36(8):682-9. PubMed ID: 24183476
    [Abstract] [Full Text] [Related]

  • 13. Two novel mutations of the SETX gene and ataxia with oculomotor apraxia type 2.
    Pera J, Lechner S, Biskup S, Strach M, Grodzicki T, Slowik A.
    Clin Neurol Neurosurg; 2015 Jan 14; 128():44-6. PubMed ID: 25462094
    [No Abstract] [Full Text] [Related]

  • 14. Ataxia with oculomotor apraxia type 2 caused by a novel homozygous mutation in SETX gene, and literature review.
    Chen S, Du J, Jiang H, Zhao W, Wang N, Ying A, Li J, Chen S, Shen B, Zhou Y.
    Front Mol Neurosci; 2022 Jan 14; 15():1019974. PubMed ID: 36438189
    [Abstract] [Full Text] [Related]

  • 15. Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia.
    El Euch-Fayache G, Lalani I, Amouri R, Turki I, Ouahchi K, Hung WY, Belal S, Siddique T, Hentati F.
    Arch Neurol; 2003 Jul 14; 60(7):982-8. PubMed ID: 12873855
    [Abstract] [Full Text] [Related]

  • 16. Unique Ataxia-Oculomotor Apraxia 2 (AOA2) in Israel with Novel Variants, Atypical Late Presentation, and Possible Identification of a Poison Exon.
    Ponger P, Kurolap A, Lerer I, Dagan J, Chai Gadot C, Mory A, Wilnai Y, Oniashvili N, Giladi N, Gurevich T, Meiner V, Lossos A, Baris Feldman H.
    J Mol Neurosci; 2022 Aug 14; 72(8):1715-1723. PubMed ID: 35676594
    [Abstract] [Full Text] [Related]

  • 17. SETX gene novel mutations in a non-French Canadian with ataxia-oculomotor apraxia type 2.
    Ghrooda S, Borys A, Spriggs E, Hegde M, Mhanni A.
    Parkinsonism Relat Disord; 2012 Jun 14; 18(5):700-1. PubMed ID: 22341623
    [No Abstract] [Full Text] [Related]

  • 18. 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]

  • 19. 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 25; 9(4):295-9. PubMed ID: 18663494
    [Abstract] [Full Text] [Related]

  • 20. "Pseudodominant inheritance" of ataxia with ocular apraxia type 2 (AOA2).
    Schöls L, Arning L, Schüle R, Epplen JT, Timmann D.
    J Neurol; 2008 Apr 25; 255(4):495-501. PubMed ID: 18350359
    [Abstract] [Full Text] [Related]

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