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Journal Abstract Search

237 related items for PubMed ID: 23786967

  • 21. Disruption of Spermatogenesis and Infertility in Ataxia with Oculomotor Apraxia Type 2 (AOA2).
    Becherel OJ, Fogel BL, Zeitlin SI, Samaratunga H, Greaney J, Homer H, Lavin MF.
    Cerebellum; 2019 Jun; 18(3):448-456. PubMed ID: 30778901
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  • 22. Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology.
    Craigen WJ, Graham BH, Wong LJ, Scaglia F, Lewis RA, Bonnen PE.
    BMC Med Genet; 2013 Aug 16; 14():83. PubMed ID: 23947751
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  • 23. [Clinical features and molecular genetics of autosomal recessive spinocerebellar degenerations].
    Tsuji S.
    Rinsho Shinkeigaku; 2004 Nov 16; 44(11):785-7. PubMed ID: 15651291
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  • 26. 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 16; 33(2):351-4. PubMed ID: 22065524
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  • 29. Novel mutations in typical and atypical genetic loci through exome sequencing in autosomal recessive cerebellar ataxia families.
    Faruq M, Narang A, Kumari R, Pandey R, Garg A, Behari M, Dash D, Srivastava AK, Mukerji M.
    Clin Genet; 2014 Oct 16; 86(4):335-41. PubMed ID: 24102492
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  • 31. 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 16; 57(3):408-14. PubMed ID: 15732101
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  • 33. Identification of a new homozygous frameshift insertion mutation in the SIL1 gene in 3 Japanese patients with Marinesco-Sjögren syndrome.
    Eriguchi M, Mizuta H, Kurohara K, Fujitake J, Kuroda Y.
    J Neurol Sci; 2008 Jul 15; 270(1-2):197-200. PubMed ID: 18395226
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  • 34. Role of senataxin in DNA damage and telomeric stability.
    De Amicis A, Piane M, Ferrari F, Fanciulli M, Delia D, Chessa L.
    DNA Repair (Amst); 2011 Feb 07; 10(2):199-209. PubMed ID: 21112256
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  • 38. 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 07; 11(1):91-100. PubMed ID: 19593598
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  • 39. Senataxin, the yeast Sen1p orthologue: characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease.
    Chen YZ, Hashemi SH, Anderson SK, Huang Y, Moreira MC, Lynch DR, Glass IA, Chance PF, Bennett CL.
    Neurobiol Dis; 2006 Jul 07; 23(1):97-108. PubMed ID: 16644229
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  • 40. Heterozygous deletion in exon 6 of STEX gene causing ataxia with oculomotor apraxia type 2 (AOA-2) with ovarian failure.
    Kinkar JS, Jameel PZ, Kumawat BL, Kalbhor P.
    BMJ Case Rep; 2021 Jun 30; 14(6):. PubMed ID: 34193451
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