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Journal Abstract Search

94 related items for PubMed ID: 15050430

  • 1. 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]

  • 2. 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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  • 3. 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
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  • 4. I112M SOD1 mutation causes ALS with rapid progression and reduced penetrance in four Mediterranean families.
    Gamez J, Caponnetto C, Ferrera L, Syriani E, Marini V, Morales M, Bordo D, Pirro C, Garre C, Origone P.
    Amyotroph Lateral Scler; 2011 Jan 15; 12(1):70-5. PubMed ID: 20515426
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  • 5. 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 15; 26(2):274-8. PubMed ID: 12210393
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  • 6. Mutational analysis of the Cu/Zn superoxide dismutase gene in a Catalan ALS population: should all sporadic ALS cases also be screened for SOD1?
    Gamez J, Corbera-Bellalta M, Nogales G, Raguer N, García-Arumí E, Badia-Canto M, Lladó-Carbó E, Alvarez-Sabín J.
    J Neurol Sci; 2006 Aug 15; 247(1):21-8. PubMed ID: 16674979
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  • 7. 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
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  • 14. 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
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  • 15. A novel L67P SOD1 mutation in an Italian ALS patient.
    del Grande A, Luigetti M, Conte A, Mancuso I, Lattante S, Marangi G, Stipa G, Zollino M, Sabatelli M.
    Amyotroph Lateral Scler; 2011 Mar 15; 12(2):150-2. PubMed ID: 21247266
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  • 17. ALS with variable phenotypes in a six-generation family caused by leu144phe mutation in the SOD1 gene.
    Masè G, Ros S, Gemma A, Bonfigli L, Carraro N, Cazzato G, Rolfo M, Zanconati F, Sepcic J, Jurjevic A, Pirulli D, Boniotto M, Zezlina S, Crovella S, Amoroso A.
    J Neurol Sci; 2001 Oct 15; 191(1-2):11-8. PubMed ID: 11676987
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  • 19. Age dependent penetrance of three different superoxide dismutase 1 (sod 1) mutations.
    Aggarwal A, Nicholson G.
    Int J Neurosci; 2005 Aug 15; 115(8):1119-30. PubMed ID: 16040355
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