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Journal Abstract Search

192 related items for PubMed ID: 19685200

  • 21. Familial amyotrophic lateral sclerosis with a novel G85S mutation of superoxide dismutase 1 gene: clinical features of lower motor neuron disease.
    Takazawa T, Ikeda K, Hirayama T, Kawabe K, Nakamura Y, Ito H, Kano O, Yoshii Y, Tanaka F, Sobue G, Iwasaki Y.
    Intern Med; 2010; 49(2):183-6. PubMed ID: 20075587
    [Abstract] [Full Text] [Related]

  • 22. Slowly progressive motor neuron disease with multi-system involvement related to p.E121G SOD1 mutation.
    Taieb G, Polge A, Juntas-Morales R, Pageot N, Lumbroso S, Mouzat K, Camu W.
    Amyotroph Lateral Scler Frontotemporal Degener; 2017 May; 18(3-4):296-297. PubMed ID: 27892702
    [Abstract] [Full Text] [Related]

  • 23. Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder: evidence for a linked protective factor.
    Al-Chalabi A, Andersen PM, Chioza B, Shaw C, Sham PC, Robberecht W, Matthijs G, Camu W, Marklund SL, Forsgren L, Rouleau G, Laing NG, Hurse PV, Siddique T, Leigh PN, Powell JF.
    Hum Mol Genet; 1998 Dec; 7(13):2045-50. PubMed ID: 9817920
    [Abstract] [Full Text] [Related]

  • 24. 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; 7(2):207-11. PubMed ID: 10809943
    [Abstract] [Full Text] [Related]

  • 25. Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations.
    Gellera C, Castellotti B, Riggio MC, Silani V, Morandi L, Testa D, Casali C, Taroni F, Di Donato S, Zeviani M, Mariotti C.
    Neuromuscul Disord; 2001 May; 11(4):404-10. PubMed ID: 11369193
    [Abstract] [Full Text] [Related]

  • 26. A novel SOD1 mutation in a young amyotrophic lateral sclerosis patient with a very slowly progressive clinical course.
    Georgoulopoulou E, Gellera C, Bragato C, Sola P, Chiari A, Bernabei C, Mandrioli J.
    Muscle Nerve; 2010 Oct; 42(4):596-7. PubMed ID: 20740631
    [Abstract] [Full Text] [Related]

  • 27. Diffusion tensor imaging in sporadic and familial (D90A SOD1) forms of amyotrophic lateral sclerosis.
    Stanton BR, Shinhmar D, Turner MR, Williams VC, Williams SC, Blain CR, Giampietro VP, Catani M, Leigh PN, Andersen PM, Simmons A.
    Arch Neurol; 2009 Jan; 66(1):109-15. PubMed ID: 19139308
    [Abstract] [Full Text] [Related]

  • 28. Recessively inherited amyotrophic lateral sclerosis: a Germany family with the D90A CuZn-SOD mutation.
    Winter SM, Claus A, Oberwittler C, Völkel H, Wenzler S, Ludolph AC.
    J Neurol; 2000 Oct; 247(10):783-6. PubMed ID: 11127534
    [Abstract] [Full Text] [Related]

  • 29. A novel codon4 mutation (A4F) in the SOD1gene in familial amyotrophic lateral sclerosis.
    Baek W, Koh SH, Park JS, Kim YS, Kim HY, Kwon MJ, Ki CS, Kim SH.
    J Neurol Sci; 2011 Jul 15; 306(1-2):157-9. PubMed ID: 21496827
    [Abstract] [Full Text] [Related]

  • 30. Limited corticospinal tract involvement in amyotrophic lateral sclerosis subjects with the A4V mutation in the copper/zinc superoxide dismutase gene.
    Cudkowicz ME, McKenna-Yasek D, Chen C, Hedley-Whyte ET, Brown RH.
    Ann Neurol; 1998 Jun 15; 43(6):703-10. PubMed ID: 9629839
    [Abstract] [Full Text] [Related]

  • 31. A novel p.E121G heterozygous missense mutation of SOD1 in an apparently sporadic ALS case with a 14-year course.
    Canosa A, Calvo A, Moglia C, Barberis M, Brunetti M, Cammarosano S, Manera U, Ilardi A, Restagno G, Chiò A.
    Amyotroph Lateral Scler Frontotemporal Degener; 2015 Mar 15; 16(1-2):127-8. PubMed ID: 25299943
    [Abstract] [Full Text] [Related]

  • 32. A novel SOD1 gene mutation in a Korean family with amyotrophic lateral sclerosis.
    Kim NH, Kim HJ, Kim M, Lee KW.
    J Neurol Sci; 2003 Jan 15; 206(1):65-9. PubMed ID: 12480087
    [Abstract] [Full Text] [Related]

  • 33. A Novel Variant in Superoxide Dismutase 1 Gene (p.V119M) in Als Patients with Pure Lower Motor Neuron Presentation.
    Ricci C, Giannini F, Riolo G, Bocci S, Casali S, Battistini S.
    Genes (Basel); 2021 Sep 29; 12(10):. PubMed ID: 34680939
    [Abstract] [Full Text] [Related]

  • 34. Motor system abnormalities in heterozygous relatives of a D90A homozygous CuZn-SOD ALS patient of finnish extraction.
    Mezei M, Andersen PM, Stewart H, Weber M, Eisen A.
    J Neurol Sci; 1999 Oct 31; 169(1-2):49-55. PubMed ID: 10540007
    [Abstract] [Full Text] [Related]

  • 35. Genetics of ALS in Italian families.
    Gellera C.
    Amyotroph Lateral Scler Other Motor Neuron Disord; 2001 Mar 31; 2 Suppl 1():S43-6. PubMed ID: 11465924
    [Abstract] [Full Text] [Related]

  • 36. 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 31; 81(5):572-7. PubMed ID: 20460594
    [Abstract] [Full Text] [Related]

  • 37. Novel SOD1 mutation p.V31A identified with a slowly progressive form of amyotrophic lateral sclerosis.
    Dangoumau A, Verschueren A, Hammouche E, Papon MA, Blasco H, Cherpi-Antar C, Pouget J, Corcia P, Andres CR, Vourc'h P.
    Neurobiol Aging; 2014 Jan 31; 35(1):266.e1-4. PubMed ID: 23954173
    [Abstract] [Full Text] [Related]

  • 38. 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]

  • 39. Large-scale SOD1 mutation screening provides evidence for genetic heterogeneity in amyotrophic lateral sclerosis.
    van Es MA, Dahlberg C, Birve A, Veldink JH, van den Berg LH, Andersen PM.
    J Neurol Neurosurg Psychiatry; 2010 May 15; 81(5):562-6. PubMed ID: 19965850
    [Abstract] [Full Text] [Related]

  • 40. The physiological basis of conduction slowing in ALS patients homozygous for the D90A CuZn-SOD mutation.
    Weber M, Eisen A, Stewart HG, Andersen PM, Hirota N.
    Muscle Nerve; 2001 Jan 15; 24(1):89-97. PubMed ID: 11150970
    [Abstract] [Full Text] [Related]

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