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Journal Abstract Search

385 related items for PubMed ID: 24094577

  • 1. Identification of a novel missense (C7W) mutation of SOD1 in a large familial amyotrophic lateral sclerosis pedigree.
    Wang Z, Cai W, Cui F, Cai T, Chen Z, Mao F, Teng H, Chen L, Wang J, Sun Z, Huang X, Yu P.
    Neurobiol Aging; 2014 Mar; 35(3):725.e11-5. PubMed ID: 24094577
    [Abstract] [Full Text] [Related]

  • 2. A novel T137A SOD1 mutation in an Italian family with two subjects affected by amyotrophic lateral sclerosis.
    Visani M, de Biase D, Bartolomei I, Plasmati R, Morandi L, Cenacchi G, Salvi F, Pession A.
    Amyotroph Lateral Scler; 2011 Sep; 12(5):385-8. PubMed ID: 21574856
    [Abstract] [Full Text] [Related]

  • 3. A novel SOD1 mutation in amyotrophic lateral sclerosis with a distinct clinical phenotype.
    Hu J, Chen K, Ni B, Li L, Chen G, Shi S.
    Amyotroph Lateral Scler; 2012 Jan; 13(1):149-54. PubMed ID: 22185396
    [Abstract] [Full Text] [Related]

  • 4. The p.E22G mutation in the Cu/Zn superoxide-dismutase gene predicts a long survival time: clinical and genetic characterization of a seven-generation ALS1 Spanish pedigree.
    Syriani E, Morales M, Gamez J.
    J Neurol Sci; 2009 Oct 15; 285(1-2):46-53. PubMed ID: 19524271
    [Abstract] [Full Text] [Related]

  • 5. Four familial ALS pedigrees discordant for two SOD1 mutations: are all SOD1 mutations pathogenic?
    Felbecker A, Camu W, Valdmanis PN, Sperfeld AD, Waibel S, Steinbach P, Rouleau GA, Ludolph AC, Andersen PM.
    J Neurol Neurosurg Psychiatry; 2010 May 15; 81(5):572-7. PubMed ID: 20460594
    [Abstract] [Full Text] [Related]

  • 6. Clinical heterogeneity in Italian patients with amyotrophic lateral sclerosis.
    Piaceri I, Del Mastio M, Tedde A, Bagnoli S, Latorraca S, Massaro F, Paganini M, Corrado A, Sorbi S, Nacmias B.
    Clin Genet; 2012 Jul 15; 82(1):83-7. PubMed ID: 21651514
    [Abstract] [Full Text] [Related]

  • 7. An ALS case with a novel D90N-SOD1 heterozygous missense mutation.
    Calvo A, Ilardi A, Moglia C, Canosa A, Carrara G, Valentini C, Ossola I, Brunetti M, Restagno G, Chiò A.
    Amyotroph Lateral Scler; 2012 Jun 15; 13(4):393-5. PubMed ID: 22632444
    [Abstract] [Full Text] [Related]

  • 8. Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes.
    Millecamps S, Boillée S, Le Ber I, Seilhean D, Teyssou E, Giraudeau M, Moigneu C, Vandenberghe N, Danel-Brunaud V, Corcia P, Pradat PF, Le Forestier N, Lacomblez L, Bruneteau G, Camu W, Brice A, Cazeneuve C, Leguern E, Meininger V, Salachas F.
    J Med Genet; 2012 Apr 15; 49(4):258-63. PubMed ID: 22499346
    [Abstract] [Full Text] [Related]

  • 9. Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations.
    Gellera C, Castellotti B, Riggio MC, Silani V, Morandi L, Testa D, Casali C, Taroni F, Di Donato S, Zeviani M, Mariotti C.
    Neuromuscul Disord; 2001 May 15; 11(4):404-10. PubMed ID: 11369193
    [Abstract] [Full Text] [Related]

  • 10. Amyotrophic lateral sclerosis: a new missense mutation in the SOD1 gene.
    Tortelli R, Conforti FL, Cortese R, D'Errico E, Distaso E, Mazzei R, Ungaro C, Magariello A, Gambardella A, Logroscino G, Simone IL.
    Neurobiol Aging; 2013 Jun 15; 34(6):1709.e3-5. PubMed ID: 23182243
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  • 14. Recurrent G41S mutation in Cu/Zn superoxide dismutase gene (SOD1) causing familial amyotrophic lateral sclerosis in a large Polish family.
    Berdyński M, Kuźma-Kozakiewicz M, Ricci C, Kubiszewska J, Millecamps S, Salachas F, Łusakowska A, Carrera P, Meininger V, Battistini S, Kwieciński H, Zekanowski C.
    Amyotroph Lateral Scler; 2012 Jan 15; 13(1):132-6. PubMed ID: 21877919
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  • 17. [Familial amyotrophic lateral sclerosis and mutations in the Cu/Zn superoxide dismutase gene].
    Nakano R.
    Rinsho Shinkeigaku; 1995 Dec 15; 35(12):1546-8. PubMed ID: 8752459
    [Abstract] [Full Text] [Related]

  • 18. A novel ALS SOD1 C6S mutation with implications for aggregation related toxicity and genetic counseling.
    Brotherton T, Polak M, Kelly C, Birve A, Andersen P, Marklund SL, Glass JD.
    Amyotroph Lateral Scler; 2011 May 15; 12(3):215-9. PubMed ID: 21073275
    [Abstract] [Full Text] [Related]

  • 19. Clinical characteristics of familial amyotrophic lateral sclerosis with a Phe20Cys mutation in the SOD1 gene in a Korean family.
    Kim HY, Ki CS, Koh SH, Park KH, Sunwoo IN, Kim SH.
    Amyotroph Lateral Scler; 2007 Apr 15; 8(2):73-8. PubMed ID: 17453632
    [Abstract] [Full Text] [Related]

  • 20. Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis.
    Kamada M, Maruyama H, Tanaka E, Morino H, Wate R, Ito H, Kusaka H, Kawano Y, Miki T, Nodera H, Izumi Y, Kaji R, Kawakami H.
    J Neurol Sci; 2009 Sep 15; 284(1-2):69-71. PubMed ID: 19411082
    [Abstract] [Full Text] [Related]

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