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Journal Abstract Search

261 related items for PubMed ID: 18350359

  • 1. "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]

  • 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
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  • 3. 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
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  • 6. Identification of novel senataxin mutations in Chinese patients with autosomal recessive cerebellar ataxias by targeted next-generation sequencing.
    Lu C, Zheng YC, Dong Y, Li HF.
    BMC Neurol; 2016 Sep 20; 16(1):179. PubMed ID: 27644330
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  • 8. 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 20; 9(4):295-9. PubMed ID: 18663494
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  • 9. 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
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  • 10. 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
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  • 11. Exon deletions and intragenic insertions are not rare in ataxia with oculomotor apraxia 2.
    Bernard V, Minnerop M, Bürk K, Kreuz F, Gillessen-Kaesbach G, Zühlke C.
    BMC Med Genet; 2009 Sep 11; 10():87. PubMed ID: 19744353
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  • 12. SETX (senataxin), the helicase mutated in AOA2 and ALS4, functions in autophagy regulation.
    Richard P, Feng S, Tsai YL, Li W, Rinchetti P, Muhith U, Irizarry-Cole J, Stolz K, Sanz LA, Hartono S, Hoque M, Tadesse S, Seitz H, Lotti F, Hirano M, Chédin F, Tian B, Manley JL.
    Autophagy; 2021 Aug 11; 17(8):1889-1906. PubMed ID: 32686621
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  • 13. 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 11; 72(8):1715-1723. PubMed ID: 35676594
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  • 14. 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 11; 132(Pt 10):2688-98. PubMed ID: 19696032
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  • 15. 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 11; 65(7):958-62. PubMed ID: 18625865
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  • 16. 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 11; 8(4):448-53. PubMed ID: 19727998
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  • 17. 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 11; 38(6):961-965. PubMed ID: 30642639
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  • 18. A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia.
    Nicolaou P, Georghiou A, Votsi C, Middleton LT, Zamba-Papanicolaou E, Christodoulou K.
    BMC Med Genet; 2008 Apr 14; 9():28. PubMed ID: 18405395
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  • 19. Characterization of two novel SETX mutations in AOA2 patients reveals aspects of the pathophysiological role of senataxin.
    Airoldi G, Guidarelli A, Cantoni O, Panzeri C, Vantaggiato C, Bonato S, Grazia D'Angelo M, Falcone S, De Palma C, Tonelli A, Crimella C, Bondioni S, Bresolin N, Clementi E, Bassi MT.
    Neurogenetics; 2010 Feb 14; 11(1):91-100. PubMed ID: 19593598
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  • 20. 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 14; 256(9):1555-7. PubMed ID: 19377860
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