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361 related items for PubMed ID: 10655055

  • 1. ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF.
    Engert JC, Bérubé P, Mercier J, Doré C, Lepage P, Ge B, Bouchard JP, Mathieu J, Melançon SB, Schalling M, Lander ES, Morgan K, Hudson TJ, Richter A.
    Nat Genet; 2000 Feb; 24(2):120-5. PubMed ID: 10655055
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  • 4. Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): high-resolution physical and transcript map of the candidate region in chromosome region 13q11.
    Engert JC, Doré C, Mercier J, Ge B, Bétard C, Rioux JD, Owen C, Bérubé P, Devon K, Birren B, Melançon SB, Morgan K, Hudson TJ, Richter A.
    Genomics; 1999 Dec 01; 62(2):156-64. PubMed ID: 10610707
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  • 5. Sacsin-related ataxia (ARSACS): expanding the genotype upstream from the gigantic exon.
    Ouyang Y, Takiyama Y, Sakoe K, Shimazaki H, Ogawa T, Nagano S, Yamamoto Y, Nakano I.
    Neurology; 2006 Apr 11; 66(7):1103-4. PubMed ID: 16606928
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  • 6. 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 Apr 11; 10(1):17-25. PubMed ID: 8472930
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  • 7. 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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  • 9. Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11.
    Richter A, Rioux JD, Bouchard JP, Mercier J, Mathieu J, Ge B, Poirier J, Julien D, Gyapay G, Weissenbach J, Hudson TJ, Melançon SB, Morgan K.
    Am J Hum Genet; 1999 Mar 15; 64(3):768-75. PubMed ID: 10053011
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  • 10. Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey.
    Richter AM, Ozgul RK, Poisson VC, Topaloglu H.
    Neurogenetics; 2004 Sep 15; 5(3):165-70. PubMed ID: 15156359
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  • 11. Sacsinopathies: sacsin-related ataxia.
    Takiyama Y.
    Cerebellum; 2007 Sep 15; 6(4):353-9. PubMed ID: 17853117
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  • 12. [Autosomal recessive spastic ataxia of Charlevoix-Saguenay: study of a family and review of the literature].
    Anheim M, Chaigne D, Fleury M, Santorelli FM, De Sèze J, Durr A, Brice A, Koenig M, Tranchant C.
    Rev Neurol (Paris); 2008 Apr 15; 164(4):363-8. PubMed ID: 18439928
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  • 14. 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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  • 15. A novel SACS gene mutation in a Tunisian family.
    Bouhlal Y, El Euch-Fayeche G, Hentati F, Amouri R.
    J Mol Neurosci; 2009 Nov 04; 39(3):333-6. PubMed ID: 19529988
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  • 16. Mutations in SACS cause atypical and late-onset forms of ARSACS.
    Baets J, Deconinck T, Smets K, Goossens D, Van den Bergh P, Dahan K, Schmedding E, Santens P, Rasic VM, Van Damme P, Robberecht W, De Meirleir L, Michielsens B, Del-Favero J, Jordanova A, De Jonghe P.
    Neurology; 2010 Sep 28; 75(13):1181-8. PubMed ID: 20876471
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  • 17. Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type.
    Grieco GS, Malandrini A, Comanducci G, Leuzzi V, Valoppi M, Tessa A, Palmeri S, Benedetti L, Pierallini A, Gambelli S, Federico A, Pierelli F, Bertini E, Casali C, Santorelli FM.
    Neurology; 2004 Jan 13; 62(1):103-6. PubMed ID: 14718707
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  • 18. 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 13; 16(9):1050-4. PubMed ID: 18398442
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