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Journal Abstract Search

149 related items for PubMed ID: 31291898

  • 21. Autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) associated with progressive cognitive and behavioral deterioration.
    Walker LA, Bourque P, Smith AM, Warman Chardon J.
    Neuropsychology; 2017 Mar; 31(3):292-303. PubMed ID: 27869457
    [Abstract] [Full Text] [Related]

  • 22. Late-onset autosomal recessive cerebellar ataxia and neuropathy with a novel splicing mutation in the ATM gene.
    Shimazaki H, Kobayashi J, Sugaya R, Nakano I, Fujimoto S.
    J Integr Neurosci; 2020 Mar 30; 19(1):125-129. PubMed ID: 32259893
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  • 23. Clinical and genetic epidemiological study of 16q22.1-linked autosomal dominant cerebellar ataxia in western Japan.
    Hayashi M, Adachi Y, Mori M, Nakano T, Nakashima K.
    Acta Neurol Scand; 2007 Aug 30; 116(2):123-7. PubMed ID: 17661799
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  • 24. 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 30; 86(4):335-41. PubMed ID: 24102492
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  • 25. The natural history of degenerative ataxia: a retrospective study in 466 patients.
    Klockgether T, Lüdtke R, Kramer B, Abele M, Bürk K, Schöls L, Riess O, Laccone F, Boesch S, Lopes-Cendes I, Brice A, Inzelberg R, Zilber N, Dichgans J.
    Brain; 1998 Apr 30; 121 ( Pt 4)():589-600. PubMed ID: 9577387
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  • 26. Spinocerebellar ataxia type 28 (SCA28) is an uncommon cause of dominant ataxia among Chinese kindreds.
    Jia D, Tang B, Chen Z, Shi Y, Sun Z, Zhang L, Wang J, Xia K, Jiang H.
    Int J Neurosci; 2012 Oct 30; 122(10):560-2. PubMed ID: 22563911
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  • 27. 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 30; 3(6):. PubMed ID: 28652255
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  • 28. Severity and progression rate of cerebellar ataxia in 16q-linked autosomal dominant cerebellar ataxia (16q-ADCA) in the endemic Nagano Area of Japan.
    Yoshida K, Shimizu Y, Morita H, Okano T, Sakai H, Ohata T, Matsumoto N, Nakamura K, Tazawa K, Ohara S, Tabata K, Inoue A, Sato S, Shimojima Y, Hattori T, Ushiyama M, Ikeda S.
    Cerebellum; 2009 Mar 30; 8(1):46-51. PubMed ID: 18855094
    [Abstract] [Full Text] [Related]

  • 29. Clinical and molecular genetic study in seven Japanese families with spinocerebellar ataxia type 6.
    Nagai Y, Azuma T, Funauchi M, Fujita M, Umi M, Hirano M, Matsubara T, Ueno S.
    J Neurol Sci; 1998 Apr 15; 157(1):52-9. PubMed ID: 9600677
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  • 32. [Clinico-genetic study of type I spinocerebelllar ataxia].
    Svetel M, Culjković B, Sternić N, Dragasević B, Stojković I, Romac S, Kostić VS.
    Srp Arh Celok Lek; 1999 Apr 15; 127(5-6):157-62. PubMed ID: 10500422
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  • 34. A Novel Variant in CWF19L1 Gene in a Family with Late-Onset Autosomal Recessive Cerebellar Ataxia 17.
    Algahtani H, Shirah B, Almatrafi S, Al-Qahtani MH, Abdulkareem AA, Naseer MI.
    Neurol Res; 2021 Feb 15; 43(2):141-147. PubMed ID: 33012273
    [Abstract] [Full Text] [Related]

  • 35. Identification of IFRD1 variant in a Han Chinese family with autosomal dominant hereditary spastic paraplegia associated with peripheral neuropathy and ataxia.
    Lin P, Zhang D, Xu G, Yan C.
    J Hum Genet; 2018 Apr 15; 63(4):521-524. PubMed ID: 29362493
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  • 36. Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene.
    Wiethoff S, Bettencourt C, Paudel R, Madon P, Liu YT, Hersheson J, Wadia N, Desai J, Houlden H.
    Cerebellum; 2017 Feb 15; 16(1):262-267. PubMed ID: 26995604
    [Abstract] [Full Text] [Related]

  • 37. Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1.
    Gispert S, Twells R, Orozco G, Brice A, Weber J, Heredero L, Scheufler K, Riley B, Allotey R, Nothers C.
    Nat Genet; 1993 Jul 15; 4(3):295-9. PubMed ID: 8358438
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  • 38. Search for the chromosomal location of autosomal dominant cerebellar ataxia from Holguin, Cuba: exclusion from candidate regions on chromosome 4 and 11q.
    Gispert S, Nothers C, Orozco G, Auburger G.
    Hum Hered; 1993 Jul 15; 43(1):12-20. PubMed ID: 8514320
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