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Journal Abstract Search

173 related items for PubMed ID: 20184519

  • 1. D90A-SOD1 mutation in ALS: The first report of heterozygous Italian patients and unusual findings.
    Giannini F, Battistini S, Mancuso M, Greco G, Ricci C, Volpi N, Del Corona A, Piazza S, Siciliano G.
    Amyotroph Lateral Scler; 2010; 11(1-2):216-9. PubMed ID: 20184519
    [Abstract] [Full Text] [Related]

  • 2. 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; 10(1):58-60. PubMed ID: 18608106
    [Abstract] [Full Text] [Related]

  • 3. 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; 49(2):267-71. PubMed ID: 11220750
    [Abstract] [Full Text] [Related]

  • 4. Heterozygous D90A-SOD1 mutation in an Italian ALS patient with atypical presentation.
    Origone P, Caponnetto C, Mascolo M, Mandich P.
    Amyotroph Lateral Scler; 2009 Feb; 10(5-6):492. PubMed ID: 19922148
    [No Abstract] [Full Text] [Related]

  • 5. Heterozygous D90A-SOD1 mutation in a patient with facial onset sensory motor neuronopathy (FOSMN) syndrome: a bridge to amyotrophic lateral sclerosis.
    Dalla Bella E, Rigamonti A, Mantero V, Morbin M, Saccucci S, Gellera C, Mora G, Lauria G.
    J Neurol Neurosurg Psychiatry; 2014 Sep; 85(9):1009-11. PubMed ID: 24591457
    [Abstract] [Full Text] [Related]

  • 6. Genetics of ALS in Italian families.
    Gellera C.
    Amyotroph Lateral Scler Other Motor Neuron Disord; 2001 Mar; 2 Suppl 1():S43-6. PubMed ID: 11465924
    [Abstract] [Full Text] [Related]

  • 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; 252(7):782-8. PubMed ID: 15789135
    [Abstract] [Full Text] [Related]

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

  • 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; 20(6):473. PubMed ID: 12442272
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. Variants in candidate ALS modifier genes linked to Cu/Zn superoxide dismutase do not explain divergent survival phenotypes.
    Broom WJ, Russ C, Sapp PC, McKenna-Yasek D, Hosler BA, Andersen PM, Brown RH.
    Neurosci Lett; 2006 Jan 09; 392(1-2):52-7. PubMed ID: 16174551
    [Abstract] [Full Text] [Related]

  • 13. [Peculiarities of sporadic motor neuron disease associated with D90A and G12R mutations in Russian population].
    Skvortsova VI, Limborskaia SA, Slominskiĭ PA, Levitskiĭ GN, Levitskaia NI, Shadrina MI, Kondrat'eva EA, Brusov OS, Lysko AI, Karakhan VB, Alekhin AV, Serdiuk AV.
    Zh Nevrol Psikhiatr Im S S Korsakova; 2003 Jan 09; 103(11):46-52. PubMed ID: 14681966
    [Abstract] [Full Text] [Related]

  • 14. Sporadic ALS associated with the D90A Cu,Zn superoxide dismutase mutation in Russia.
    Skvortsova VI, Limborska SA, Slominsky PA, Levitskaya NI, Levitsky GN, Shadrina MI, Kondratyeva EA.
    Eur J Neurol; 2001 Mar 09; 8(2):167-72. PubMed ID: 11284995
    [Abstract] [Full Text] [Related]

  • 15. 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 09; 7(2):207-11. PubMed ID: 10809943
    [Abstract] [Full Text] [Related]

  • 16. 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 09; 36(3):421-4. PubMed ID: 19703565
    [Abstract] [Full Text] [Related]

  • 17. A screening for superoxide dismutase-1 D90A mutation in Italian patients with sporadic amyotrophic lateral sclerosis.
    Mancuso M, Filosto M, Naini A, Rocchi A, Del Corona A, Sartucci F, Siciliano G, Murri L.
    Amyotroph Lateral Scler Other Motor Neuron Disord; 2002 Dec 09; 3(4):215-8. PubMed ID: 12710511
    [Abstract] [Full Text] [Related]

  • 18. 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 09; 105(3):472-8. PubMed ID: 22264771
    [Abstract] [Full Text] [Related]

  • 19. Mutational analysis of the Cu/Zn superoxide dismutase gene in 23 familial and 69 sporadic cases of amyotrophic lateral sclerosis in Belgium.
    Aguirre T, Matthijs G, Robberecht W, Tilkin P, Cassiman JJ.
    Eur J Hum Genet; 1999 Jul 09; 7(5):599-602. PubMed ID: 10439968
    [Abstract] [Full Text] [Related]

  • 20. D90A heterozygosity in the SOD1 gene is associated with familial and apparently sporadic amyotrophic lateral sclerosis.
    Robberecht W, Aguirre T, Van den Bosch L, Tilkin P, Cassiman JJ, Matthijs G.
    Neurology; 1996 Nov 09; 47(5):1336-9. PubMed ID: 8909456
    [Abstract] [Full Text] [Related]

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