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Journal Abstract Search

329 related items for PubMed ID: 11521210

  • 1. Autosomal recessive spastic ataxia of Charlevoix-Saguenay in two unrelated Turkish families.
    Gücüyener K, Ozgül K, Paternotte C, Erdem H, Prud'homme JF, Ozgüç M, Topaloğlu H.
    Neuropediatrics; 2001 Jun; 32(3):142-6. PubMed ID: 11521210
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  • 4. A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33-34.
    Thiffault I, Rioux MF, Tetreault M, Jarry J, Loiselle L, Poirier J, Gros-Louis F, Mathieu J, Vanasse M, Rouleau GA, Bouchard JP, Lesage J, Brais B.
    Brain; 2006 Sep; 129(Pt 9):2332-40. PubMed ID: 16672289
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  • 5. Novel compound heterozygous mutations in sacsin-related ataxia.
    Yamamoto Y, Hiraoka K, Araki M, Nagano S, Shimazaki H, Takiyama Y, Sakoda S.
    J Neurol Sci; 2005 Dec 15; 239(1):101-4. PubMed ID: 16198375
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  • 6. Neurophysiological study in a Spanish family with recessive spastic ataxia of Charlevoix-Saguenay.
    García A, Criscuolo C, de Michele G, Berciano J.
    Muscle Nerve; 2008 Jan 15; 37(1):107-10. PubMed ID: 17683082
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  • 8. Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview.
    Bouhlal Y, Amouri R, El Euch-Fayeche G, Hentati F.
    Parkinsonism Relat Disord; 2011 Jul 15; 17(6):418-22. PubMed ID: 21450511
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  • 10. Novel SACS mutation in a Belgian family with sacsin-related ataxia.
    Ouyang Y, Segers K, Bouquiaux O, Wang FC, Janin N, Andris C, Shimazaki H, Sakoe K, Nakano I, Takiyama Y.
    J Neurol Sci; 2008 Jan 15; 264(1-2):73-6. PubMed ID: 17716690
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  • 11. Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33-34, and with hearing impairment and optic atrophy to 6p21-23.
    Bomont P, Watanabe M, Gershoni-Barush R, Shizuka M, Tanaka M, Sugano J, Guiraud-Chaumeil C, Koenig M.
    Eur J Hum Genet; 2000 Dec 15; 8(12):986-90. PubMed ID: 11175288
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  • 13. A novel genomic disorder: a deletion of the SACS gene leading to spastic ataxia of Charlevoix-Saguenay.
    Breckpot J, Takiyama Y, Thienpont B, Van Vooren S, Vermeesch JR, Ortibus E, Devriendt K.
    Eur J Hum Genet; 2008 Sep 15; 16(9):1050-4. PubMed ID: 18398442
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  • 17. Further clinical and genetic characterization of SPG11: hereditary spastic paraplegia with thin corpus callosum.
    Olmez A, Uyanik G, Ozgül RK, Gross C, Cirak S, Elibol B, Anlar B, Winner B, Hehr U, Topaloglu H, Winkler J.
    Neuropediatrics; 2006 Apr 15; 37(2):59-66. PubMed ID: 16773502
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  • 18. Novel compound heterozygous mutations of the SACS gene in autosomal recessive spastic ataxia of Charlevoix-Saguenay.
    Haga R, Miki Y, Funamizu Y, Kon T, Suzuki C, Ueno T, Nishijima H, Arai A, Tomiyama M, Shimazaki H, Takiyama Y, Baba M.
    Clin Neurol Neurosurg; 2012 Jul 15; 114(6):746-7. PubMed ID: 22209141
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  • 20. Genetic epidemiology of autosomal recessive spastic ataxia of Charlevoix-Saguenay in northeastern Quebec.
    De Braekeleer M, Giasson F, Mathieu J, Roy M, Bouchard JP, Morgan K.
    Genet Epidemiol; 1993 Jul 15; 10(1):17-25. PubMed ID: 8472930
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