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Journal Abstract Search

312 related items for PubMed ID: 28652255

  • 1. Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia.
    Inlora J, Sailani MR, Khodadadi H, Teymurinezhad A, Takahashi S, Bernstein JA, Garshasbi M, Snyder MP.
    Cold Spring Harb Mol Case Stud; 2017 Nov; 3(6):. PubMed ID: 28652255
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  • 2. 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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  • 3. Ataxia with Ocular Apraxia Type 1 (AOA1) (APTX, W279* Mutation): Neurological, Neuropsychological, and Molecular Outlining of a Heterogenous Phenotype in Four Colombian Siblings.
    Aguillon D, Vasquez D, Madrigal L, Moreno S, Hernández D, Isaza-Ruget M, Lopez JJ, Landires I, Nuñez-Samudio V, Restrepo CM, Vidal OM, Vélez JI, Arcos-Holzinger M, Lopera F, Arcos-Burgos M.
    Mol Neurobiol; 2022 Jun 16; 59(6):3845-3858. PubMed ID: 35420381
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  • 5. 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
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  • 7. 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
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  • 20. 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 15; 48(6):529-32. PubMed ID: 16700949
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