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Journal Abstract Search

323 related items for PubMed ID: 18439928

  • 1. [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; 164(4):363-8. PubMed ID: 18439928
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. 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; 60(7):982-8. PubMed ID: 12873855
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 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
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. 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]

  • 9. Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.
    Anheim M, Monga B, Fleury M, Charles P, Barbot C, Salih M, Delaunoy JP, Fritsch M, Arning L, Synofzik M, Schöls L, Sequeiros J, Goizet C, Marelli C, Le Ber I, Koht J, Gazulla J, De Bleecker J, Mukhtar M, Drouot N, Ali-Pacha L, Benhassine T, Chbicheb M, M'Zahem A, Hamri A, Chabrol B, Pouget J, Murphy R, Watanabe M, Coutinho P, Tazir M, Durr A, Brice A, Tranchant C, Koenig M.
    Brain; 2009 Oct 28; 132(Pt 10):2688-98. PubMed ID: 19696032
    [Abstract] [Full Text] [Related]

  • 10. 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 28; 24(2):120-5. PubMed ID: 10655055
    [Abstract] [Full Text] [Related]

  • 11. 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]

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  • 13. 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 Jan 13; 51(6):481-485. PubMed ID: 28843771
    [Abstract] [Full Text] [Related]

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  • 15. 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
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series.
    Prodi E, Grisoli M, Panzeri M, Minati L, Fattori F, Erbetta A, Uziel G, D'Arrigo S, Tessa A, Ciano C, Santorelli FM, Savoiardo M, Mariotti C.
    Eur J Neurol; 2013 Jan 15; 20(1):138-46. PubMed ID: 22816526
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  • 19. 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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