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Journal Abstract Search

374 related items for PubMed ID: 15079798

  • 1. [Identification of the mutation of SOD1 gene in a familial amyotrophic lateral sclerosis].
    Shi SG, Li LS, Chen KN, Liu X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2004 Apr; 21(2):149-52. PubMed ID: 15079798
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. A novel two-base mutation in the Cu/Zn superoxide dismutase gene associated with familial amyotrophic lateral sclerosis in Japan.
    Morita M, Aoki M, Abe K, Hasegawa T, Sakuma R, Onodera Y, Ichikawa N, Nishizawa M, Itoyama Y.
    Neurosci Lett; 1996 Feb 23; 205(2):79-82. PubMed ID: 8907321
    [Abstract] [Full Text] [Related]

  • 4. Identification of three novel mutations in the gene for Cu/Zn superoxide dismutase in patients with familial amyotrophic lateral sclerosis.
    Sapp PC, Rosen DR, Hosler BA, Esteban J, McKenna-Yasek D, O'Regan JP, Horvitz HR, Brown RH.
    Neuromuscul Disord; 1995 Sep 23; 5(5):353-7. PubMed ID: 7496169
    [Abstract] [Full Text] [Related]

  • 5. Superoxide dismutase mutations in an unselected cohort of Scottish amyotrophic lateral sclerosis patients.
    Jones CT, Swingler RJ, Simpson SA, Brock DJ.
    J Med Genet; 1995 Apr 23; 32(4):290-2. PubMed ID: 7643359
    [Abstract] [Full Text] [Related]

  • 6. A novel mutation (Cys6Gly) in the Cu/Zn superoxide dismutase gene associated with rapidly progressive familial amyotrophic lateral sclerosis.
    Kohno S, Takahashi Y, Miyajima H, Serizawa M, Mizoguchi K.
    Neurosci Lett; 1999 Dec 03; 276(2):135-7. PubMed ID: 10624810
    [Abstract] [Full Text] [Related]

  • 7. Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient.
    Jones CT, Shaw PJ, Chari G, Brock DJ.
    Mol Cell Probes; 1994 Aug 03; 8(4):329-30. PubMed ID: 7870076
    [Abstract] [Full Text] [Related]

  • 8. Three novel mutations and two variants in the gene for Cu/Zn superoxide dismutase in familial amyotrophic lateral sclerosis.
    Hosler BA, Nicholson GA, Sapp PC, Chin W, Orrell RW, de Belleroche JS, Esteban J, Hayward LJ, Mckenna-Yasek D, Yeung L, Cherryson AK, Dench JE, Wilton SD, Laing NG, Horvitz HR, Brown RH.
    Neuromuscul Disord; 1996 Oct 03; 6(5):361-6. PubMed ID: 8938700
    [Abstract] [Full Text] [Related]

  • 9. Copper/zinc superoxide dismutase 1 and sporadic amyotrophic lateral sclerosis: analysis of 155 cases and identification of a novel insertion mutation.
    Jackson M, Al-Chalabi A, Enayat ZE, Chioza B, Leigh PN, Morrison KE.
    Ann Neurol; 1997 Nov 03; 42(5):803-7. PubMed ID: 9392581
    [Abstract] [Full Text] [Related]

  • 10. Cu/Zn superoxide dismutase activity in familial and sporadic amyotrophic lateral sclerosis.
    Robberecht W, Sapp P, Viaene MK, Rosen D, McKenna-Yasek D, Haines J, Horvitz R, Theys P, Brown R.
    J Neurochem; 1994 Jan 03; 62(1):384-7. PubMed ID: 8263541
    [Abstract] [Full Text] [Related]

  • 11. Exon 5 encoded domain is not required for the toxic function of mutant SOD1 but essential for the dismutase activity: identification and characterization of two new SOD1 mutations associated with familial amyotrophic lateral sclerosis.
    Zu JS, Deng HX, Lo TP, Mitsumoto H, Ahmed MS, Hung WY, Cai ZJ, Tainer JA, Siddique T.
    Neurogenetics; 1997 May 03; 1(1):65-71. PubMed ID: 10735277
    [Abstract] [Full Text] [Related]

  • 12. 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 03; 12(5):385-8. PubMed ID: 21574856
    [Abstract] [Full Text] [Related]

  • 13. 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 03; 8(2):73-8. PubMed ID: 17453632
    [Abstract] [Full Text] [Related]

  • 14. Molecular analysis of the superoxide dismutase 1 gene in Spanish patients with sporadic or familial amyotrophic lateral sclerosis.
    García-Redondo A, Bustos F, Juan Y Seva B, Del Hoyo P, Jiménez S, Campos Y, Martín MA, Rubio JC, Cañadillas F, Arenas J, Esteban J.
    Muscle Nerve; 2002 Aug 03; 26(2):274-8. PubMed ID: 12210393
    [Abstract] [Full Text] [Related]

  • 15. Severe familial ALS with a novel exon 4 mutation (L106F) in the SOD1 gene.
    Battistini S, Ricci C, Lotti EM, Benigni M, Gagliardi S, Zucco R, Bondavalli M, Marcello N, Ceroni M, Cereda C.
    J Neurol Sci; 2010 Jun 15; 293(1-2):112-5. PubMed ID: 20385392
    [Abstract] [Full Text] [Related]

  • 16. Amyotrophic lateral sclerosis with mutation of the Cu/Zn superoxide dismutase gene (SOD1) in a patient with Down syndrome.
    Marucci G, Morandi L, Bartolomei I, Salvi F, Pession A, Righi A, Lauria G, Foschini MP.
    Neuromuscul Disord; 2007 Oct 15; 17(9-10):673-6. PubMed ID: 17624778
    [Abstract] [Full Text] [Related]

  • 17. Development of diabetes in a familial amyotrophic lateral sclerosis patient carrying the I113T SOD1 mutation. Case Report.
    Hamasaki H, Takeuchi Y, Masui Y, Ohta Y, Abe K, Yoshino H, Yanai H.
    Neuro Endocrinol Lett; 2015 Oct 15; 36(5):414-6. PubMed ID: 26707039
    [Abstract] [Full Text] [Related]

  • 18. A novel codon4 mutation (A4F) in the SOD1gene in familial amyotrophic lateral sclerosis.
    Baek W, Koh SH, Park JS, Kim YS, Kim HY, Kwon MJ, Ki CS, Kim SH.
    J Neurol Sci; 2011 Jul 15; 306(1-2):157-9. PubMed ID: 21496827
    [Abstract] [Full Text] [Related]

  • 19. 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
    [Abstract] [Full Text] [Related]

  • 20. A rare Cu/Zn superoxide dismutase mutation causing familial amyotrophic lateral sclerosis with variable age of onset and incomplete penetrance in China.
    Zhang H, Zhao H, Lu M, Zhang Y, Wang L, Zhang J, Ma D, Fan D.
    Amyotroph Lateral Scler Other Motor Neuron Disord; 2005 Dec 15; 6(4):234-8. PubMed ID: 16319027
    [Abstract] [Full Text] [Related]

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