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Journal Abstract Search

197 related items for PubMed ID: 16421146

  • 1. A novel sacsin mutation in a Japanese woman showing clinical uniformity of autosomal recessive spastic ataxia of Charlevoix-Saguenay.
    Okawa S, Sugawara M, Watanabe S, Imota T, Toyoshima I.
    J Neurol Neurosurg Psychiatry; 2006 Feb; 77(2):280-2. PubMed ID: 16421146
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  • 4. Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): novel compound heterozygous mutations in the SACS gene.
    Kamada S, Okawa S, Imota T, Sugawara M, Toyoshima I.
    J Neurol; 2008 Jun; 255(6):803-6. PubMed ID: 18484239
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  • 7. A novel mutation in SACS gene in a family from southern Italy.
    Criscuolo C, Banfi S, Orio M, Gasparini P, Monticelli A, Scarano V, Santorelli FM, Perretti A, Santoro L, De Michele G, Filla A.
    Neurology; 2004 Jan 13; 62(1):100-2. PubMed ID: 14718706
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  • 12. Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay without Spasticity.
    Aida I, Ozawa T, Fujinaka H, Goto K, Ohta K, Nakajima T.
    Intern Med; 2021 Dec 15; 60(24):3963-3967. PubMed ID: 34121011
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  • 17. Identification of a SACS gene missense mutation in ARSACS.
    Ogawa T, Takiyama Y, Sakoe K, Mori K, Namekawa M, Shimazaki H, Nakano I, Nishizawa M.
    Neurology; 2004 Jan 13; 62(1):107-9. PubMed ID: 14718708
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  • 20. Retinal and pontine striations: neurodiagnostic signs of autosomal recessive spastic ataxia of Charlevoix-Saguenay.
    Leavitt JA, Singer W, Brown WL, Pulido JS, Brodsky MC.
    J Neuroophthalmol; 2014 Dec 13; 34(4):369-71. PubMed ID: 25237835
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