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Journal Abstract Search

302 related items for PubMed ID: 21877919

  • 1. 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; 13(1):132-6. PubMed ID: 21877919
    [Abstract] [Full Text] [Related]

  • 2. 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 Jan; 11(1-2):210-5. PubMed ID: 19488901
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 4. 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 15; 13(1):149-54. PubMed ID: 22185396
    [Abstract] [Full Text] [Related]

  • 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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  • 7. 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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  • 9. 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
    [Abstract] [Full Text] [Related]

  • 10. 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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  • 12. 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
    [Abstract] [Full Text] [Related]

  • 13. Familial ALS in Germany: origin of the R115G SOD1 mutation by a founder effect.
    Niemann S, Joos H, Meyer T, Vielhaber S, Reuner U, Gleichmann M, Dengler R, Müller U.
    J Neurol Neurosurg Psychiatry; 2004 Aug 15; 75(8):1186-8. PubMed ID: 15258228
    [Abstract] [Full Text] [Related]

  • 14. 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]

  • 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. Respiratory onset in an ALS family with L144F SOD1 mutation.
    Corcia P, Petiot P, Stevic Z, Vourc'h P, Morales R, Gordon PH, Pageot N, Andres C, Camu W.
    J Neurol Neurosurg Psychiatry; 2011 Jul 15; 82(7):747-9. PubMed ID: 20562451
    [Abstract] [Full Text] [Related]

  • 17. 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
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  • 18. 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
    [Abstract] [Full Text] [Related]

  • 19. 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]

  • 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 15; 12(5):385-8. PubMed ID: 21574856
    [Abstract] [Full Text] [Related]

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