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Journal Abstract Search


166 related items for PubMed ID: 19529988

  • 1. A novel SACS gene mutation in a Tunisian family.
    Bouhlal Y, El Euch-Fayeche G, Hentati F, Amouri R.
    J Mol Neurosci; 2009 Nov; 39(3):333-6. PubMed ID: 19529988
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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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  • 5. Sacsinopathies: sacsin-related ataxia.
    Takiyama Y.
    Cerebellum; 2007 Jun; 6(4):353-9. PubMed ID: 17853117
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  • 8. A phenotype without spasticity in sacsin-related ataxia.
    Shimazaki H, Takiyama Y, Sakoe K, Ando Y, Nakano I.
    Neurology; 2005 Jun 28; 64(12):2129-31. PubMed ID: 15985586
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  • 12. 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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  • 13. Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration.
    Bagaria J, Bagyinszky E, An SSA.
    Int J Mol Sci; 2022 Jan 04; 23(1):. PubMed ID: 35008978
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  • 14. A novel SACS p.Pro4154GlnfsTer20 mutation in a family with autosomal recessive spastic ataxia of Charlevoix-Saguenay.
    Samanci B, Gokalp EE, Bilgic B, Gurvit H, Artan S, Hanagasi HA.
    Neurol Sci; 2021 Jul 04; 42(7):2969-2973. PubMed ID: 33559790
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  • 15. A Novel Homozygous SACS Mutation Identified by Whole-Exome Sequencing in a Consanguineous Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
    Zeng H, Tang JG, Yang YF, Tan ZP, Tan JQ.
    Cytogenet Genome Res; 2017 Jul 04; 152(1):16-21. PubMed ID: 28658676
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  • 16. Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) - A Polish family with novel SACS mutations.
    Krygier M, Konkel A, Schinwelski M, Rydzanicz M, Walczak A, Sildatke-Bauer M, Płoski R, Sławek J.
    Neurol Neurochir Pol; 2017 Jul 04; 51(6):481-485. PubMed ID: 28843771
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  • 17. Rapid detection of the sacsin mutations causing autosomal recessive spastic ataxia of Charlevoix-Saguenay.
    Mercier J, Prévost C, Engert JC, Bouchard JP, Mathieu J, Richter A.
    Genet Test; 2001 Jul 04; 5(3):255-9. PubMed ID: 11788093
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  • 19. Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a family report from South Brazil.
    Burguêz D, Oliveira CM, Rockenbach MABC, Fussiger H, Vedolin LM, Winckler PB, Maestri MK, Finkelsztejn A, Santorelli FM, Jardim LB, Saute JAM.
    Arq Neuropsiquiatr; 2017 Jun 04; 75(6):339-344. PubMed ID: 28658401
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  • 20. Autosomal recessive spastic ataxia of Charlevoix-Saguenay caused by novel mutations in SACS gene: A report of two Chinese families.
    Wang Z, Song Y, Wang X, Li X, Xu F, Si L, Dong Y, Yao T, Zhu J, Lai H, Li W, Lin F, Huang H, Wang C.
    Neurosci Lett; 2021 May 01; 752():135831. PubMed ID: 33746006
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