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Journal Abstract Search

136 related items for PubMed ID: 13129803

  • 1. A rare Cu/Zn superoxide dismutase mutation causing familial amyotrophic lateral sclerosis with variable age of onset, incomplete penetrance and a sensory neuropathy.
    Rezania K, Yan J, Dellefave L, Deng HX, Siddique N, Pascuzzi RT, Siddique T, Roos RP.
    Amyotroph Lateral Scler Other Motor Neuron Disord; 2003 Sep; 4(3):162-6. PubMed ID: 13129803
    [Abstract] [Full Text] [Related]

  • 2. 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; 6(4):234-8. PubMed ID: 16319027
    [Abstract] [Full Text] [Related]

  • 3. 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; 8(2):73-8. PubMed ID: 17453632
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  • 4. 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; 62(1):384-7. PubMed ID: 8263541
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  • 5. A frequent ala 4 to val superoxide dismutase-1 mutation is associated with a rapidly progressive familial amyotrophic lateral sclerosis.
    Rosen DR, Bowling AC, Patterson D, Usdin TB, Sapp P, Mezey E, McKenna-Yasek D, O'Regan J, Rahmani Z, Ferrante RJ.
    Hum Mol Genet; 1994 Jun; 3(6):981-7. PubMed ID: 7951249
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  • 6. 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
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  • 7. A novel exon 3 mutation (D76V) in the SOD1 gene associated with slowly progressive ALS.
    Segovia-Silvestre T, Andreu AL, Vives-Bauza C, Garcia-Arumi E, Cervera C, Gamez J.
    Amyotroph Lateral Scler Other Motor Neuron Disord; 2002 Jun 15; 3(2):69-74. PubMed ID: 12215228
    [Abstract] [Full Text] [Related]

  • 8. SOD1 mutations in amyotrophic lateral sclerosis. Results from a multicenter Italian study.
    Battistini S, Giannini F, Greco G, Bibbò G, Ferrera L, Marini V, Causarano R, Casula M, Lando G, Patrosso MC, Caponnetto C, Origone P, Marocchi A, Del Corona A, Siciliano G, Carrera P, Mascia V, Giagheddu M, Carcassi C, Orrù S, Garrè C, Penco S.
    J Neurol; 2005 Jul 15; 252(7):782-8. PubMed ID: 15789135
    [Abstract] [Full Text] [Related]

  • 9. Clinical characteristics of familial amyotrophic lateral sclerosis with Cu/Zn superoxide dismutase gene mutations.
    Abe K, Aoki M, Ikeda M, Watanabe M, Hirai S, Itoyama Y.
    J Neurol Sci; 1996 Mar 15; 136(1-2):108-16. PubMed ID: 8815157
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  • 10. A novel exon 5 mutation (N139H) in the SOD1 gene in a Spanish family associated with incomplete penetrance.
    Nogales-Gadea G, Garcia-Arumi E, Andreu AL, Cervera C, Gamez J.
    J Neurol Sci; 2004 Apr 15; 219(1-2):1-6. PubMed ID: 15050430
    [Abstract] [Full Text] [Related]

  • 11. Variance of age at onset in a Japanese family with amyotrophic lateral sclerosis associated with a novel Cu/Zn superoxide dismutase mutation.
    Aoki M, Abe K, Houi K, Ogasawara M, Matsubara Y, Kobayashi T, Mochio S, Narisawa K, Itoyama Y.
    Ann Neurol; 1995 May 15; 37(5):676-9. PubMed ID: 7755363
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  • 17. 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
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  • 18. 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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  • 20. [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 15; 21(2):149-52. PubMed ID: 15079798
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