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Journal Abstract Search

187 related items for PubMed ID: 15486997

  • 1. Sacsin-related autosomal recessive ataxia without prominent retinal myelinated fibers in Japan.
    Hara K, Onodera O, Endo M, Kondo H, Shiota H, Miki K, Tanimoto N, Kimura T, Nishizawa M.
    Mov Disord; 2005 Mar; 20(3):380-2. PubMed ID: 15486997
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. [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 28; 164(4):363-8. PubMed ID: 18439928
    [Abstract] [Full Text] [Related]

  • 5. Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia.
    El Euch-Fayache G, Lalani I, Amouri R, Turki I, Ouahchi K, Hung WY, Belal S, Siddique T, Hentati F.
    Arch Neurol; 2003 Jul 28; 60(7):982-8. PubMed ID: 12873855
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. 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
    [Abstract] [Full Text] [Related]

  • 9. Sacsin-related ataxia with neither retinal hypermyelination nor spasticity.
    Hara K, Shimbo J, Nozaki H, Kikugawa K, Onodera O, Nishizawa M.
    Mov Disord; 2007 Jul 15; 22(9):1362-3. PubMed ID: 17516465
    [No Abstract] [Full Text] [Related]

  • 10. 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
    [Abstract] [Full Text] [Related]

  • 11. Autosomal recessive spastic ataxia of Charlevoix-Saguenay: compound heterozygotes for nonsense mutations of the SACS gene.
    Narayanan V, Rice SG, Olfers SS, Sivakumar K.
    J Child Neurol; 2011 Dec 13; 26(12):1585-9. PubMed ID: 21745802
    [Abstract] [Full Text] [Related]

  • 12. Autosomal recessive spastic ataxia of Charlevoix-Saguenay.
    Takiyama Y.
    Neuropathology; 2006 Aug 13; 26(4):368-75. PubMed ID: 16961075
    [Abstract] [Full Text] [Related]

  • 13. 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 13; 24(2):120-5. PubMed ID: 10655055
    [Abstract] [Full Text] [Related]

  • 14. Pseudodominant inheritance of spastic ataxia of Charlevoix-Saguenay.
    Terracciano A, Foulds NC, Ditchfield A, Bunyan DJ, Crolla JA, Huang S, Santorelli FM, Hammans SR.
    Neurology; 2010 Apr 06; 74(14):1152-4. PubMed ID: 20368637
    [No Abstract] [Full Text] [Related]

  • 15. 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 06; 255(6):803-6. PubMed ID: 18484239
    [Abstract] [Full Text] [Related]

  • 16. 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 06; 37(1):107-10. PubMed ID: 17683082
    [Abstract] [Full Text] [Related]

  • 17. Sacsinopathies: sacsin-related ataxia.
    Takiyama Y.
    Cerebellum; 2007 Jan 06; 6(4):353-9. PubMed ID: 17853117
    [Abstract] [Full Text] [Related]

  • 18. Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia.
    Criscuolo C, Saccà F, De Michele G, Mancini P, Combarros O, Infante J, Garcia A, Banfi S, Filla A, Berciano J.
    Mov Disord; 2005 Oct 06; 20(10):1358-61. PubMed ID: 16007637
    [Abstract] [Full Text] [Related]

  • 19. 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 06; 32(3):142-6. PubMed ID: 11521210
    [Abstract] [Full Text] [Related]

  • 20. 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
    [Abstract] [Full Text] [Related]

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