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Journal Abstract Search

256 related items for PubMed ID: 11676987

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  • 3. 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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  • 4. 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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  • 5. 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
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  • 7. 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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  • 8. 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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  • 9. 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
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  • 11. 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 15; 35(3):725.e11-5. PubMed ID: 24094577
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  • 12. G41S SOD1 mutation: A common ancestor for six ALS Italian families with an aggressive phenotype.
    Battistini S, Ricci C, Giannini F, Calzavara S, Greco G, Del Corona A, Mancuso M, Battistini N, Siciliano G, Carrera P.
    Amyotroph Lateral Scler; 2010 Mar 15; 11(1-2):210-5. PubMed ID: 19488901
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  • 13. Further evidence that D90A-SOD1 mutation is recessively inherited in ALS patients in Italy.
    Luisa Conforti F, Sprovieri T, Mazzei R, Patitucci A, Ungaro C, Zoccolella S, Magariello A, Bella VL, Tessitore A, Tedeschi G, Simone IL, Majorana G, Valentino P, Citrigno L, Gabriele A, Bono F, Monsurrò MR, Muglia M, Quattrone A.
    Amyotroph Lateral Scler; 2009 Feb 15; 10(1):58-60. PubMed ID: 18608106
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  • 14. Lack of SOD1 gene mutations and activity alterations in two Italian families with amyotrophic lateral sclerosis.
    Gestri D, Cecchi C, Tedde A, Latorraca S, Orlacchio A, Grassi E, Massaro AM, Liguri G, St George-Hyslop PH, Sorbi S.
    Neurosci Lett; 2000 Aug 11; 289(3):157-60. PubMed ID: 10961653
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  • 15. SOD1 missense mutation in an Italian family with ALS.
    Rainero I, Pinessi L, Tsuda T, Vignocchi MG, Vaula G, Calvi L, Cerrato P, Rossi B, Bergamini L, McLachlan DR.
    Neurology; 1994 Feb 11; 44(2):347-9. PubMed ID: 8309590
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  • 16. 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 11; 3(2):69-74. PubMed ID: 12215228
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  • 17. Clustering of ALS patients in central Italy due to the occurrence of the L84F SOD1 gene mutation.
    Ceroni M, Malaspina A, Poloni TE, Alimonti D, Rognoni F, Habgood J, Imbesi F, Antonelli P, Alfonsi E, Curti D, deBelleroche J.
    Neurology; 1999 Sep 22; 53(5):1064-71. PubMed ID: 10496267
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  • 18. 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 22; 82(1):83-7. PubMed ID: 21651514
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  • 19. 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 22; 62(1):384-7. PubMed ID: 8263541
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  • 20. 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 22; 12(5):385-8. PubMed ID: 21574856
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