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Journal Abstract Search

374 related items for PubMed ID: 20460594

  • 1. 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; 81(5):572-7. PubMed ID: 20460594
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  • 2. SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations.
    Millecamps S, Salachas F, Cazeneuve C, Gordon P, Bricka B, Camuzat A, Guillot-Noël L, Russaouen O, Bruneteau G, Pradat PF, Le Forestier N, Vandenberghe N, Danel-Brunaud V, Guy N, Thauvin-Robinet C, Lacomblez L, Couratier P, Hannequin D, Seilhean D, Le Ber I, Corcia P, Camu W, Brice A, Rouleau G, LeGuern E, Meininger V.
    J Med Genet; 2010 Aug; 47(8):554-60. PubMed ID: 20577002
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  • 3. DNA sequence analysis of the conserved region around the SOD1 gene locus in recessively inherited ALS.
    Broom WJ, Johnson DV, Garber M, Andersen PM, Lennon N, Landers J, Nusbaum C, Russ C, Brown RH.
    Neurosci Lett; 2009 Sep 29; 463(1):64-9. PubMed ID: 19596401
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  • 4. Compound heterozygous D90A and D96N SOD1 mutations in a recessive amyotrophic lateral sclerosis family.
    Hand CK, Mayeux-Portas V, Khoris J, Briolotti V, Clavelou P, Camu W, Rouleau GA.
    Ann Neurol; 2001 Feb 29; 49(2):267-71. PubMed ID: 11220750
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  • 5. Coexistence of dominant and recessive familial amyotrophic lateral sclerosis with the D90A Cu,Zn superoxide dismutase mutation within the same country.
    Khoris J, Moulard B, Briolotti V, Hayer M, Durieux A, Clavelou P, Malafosse A, Rouleau GA, Camu W.
    Eur J Neurol; 2000 Mar 29; 7(2):207-11. PubMed ID: 10809943
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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. 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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  • 8. 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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  • 10. D90A-SOD1 mediated amyotrophic lateral sclerosis: a single founder for all cases with evidence for a Cis-acting disease modifier in the recessive haplotype.
    Parton MJ, Broom W, Andersen PM, Al-Chalabi A, Nigel Leigh P, Powell JF, Shaw CE, D90A SOD1 ALS Consortium.
    Hum Mutat; 2002 Dec 15; 20(6):473. PubMed ID: 12442272
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  • 11. The human G93A SOD1 phenotype closely resembles sporadic amyotrophic lateral sclerosis.
    Synofzik M, Fernández-Santiago R, Maetzler W, Schöls L, Andersen PM.
    J Neurol Neurosurg Psychiatry; 2010 Jul 15; 81(7):764-7. PubMed ID: 20176600
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  • 12. 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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  • 16. ALS patients with mutations in the SOD1 gene have an unique metabolomic profile in the cerebrospinal fluid compared with ALS patients without mutations.
    Wuolikainen A, Andersen PM, Moritz T, Marklund SL, Antti H.
    Mol Genet Metab; 2012 Mar 15; 105(3):472-8. PubMed ID: 22264771
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  • 17. 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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  • 18. Preserved slow conducting corticomotoneuronal projections in amyotrophic lateral sclerosis with autosomal recessive D90A CuZn-superoxide dismutase mutation.
    Weber M, Eisen A, Stewart HG, Andersen PM.
    Brain; 2000 Jul 15; 123 ( Pt 7)():1505-15. PubMed ID: 10869061
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  • 19. 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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  • 20. Superoxide dismutase in amyotrophic lateral sclerosis patients homozygous for the D90A mutation.
    Jonsson PA, Graffmo KS, Andersen PM, Marklund SL, Brännström T.
    Neurobiol Dis; 2009 Dec 15; 36(3):421-4. PubMed ID: 19703565
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