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419 related items for PubMed ID: 16319027

  • 1. A rare Cu/Zn superoxide dismutase mutation causing familial amyotrophic lateral sclerosis with variable age of onset and incomplete penetrance in China.
    Zhang H, Zhao H, Lu M, Zhang Y, Wang L, Zhang J, Ma D, Fan D.
    Amyotroph Lateral Scler Other Motor Neuron Disord; 2005 Dec; 6(4):234-8. PubMed ID: 16319027
    [Abstract] [Full Text] [Related]

  • 2. [Familial amyotrophic lateral sclerosis showing variable clinical courses with (Leu84-->Val) mutation of Cu/Zn superoxide dismutase].
    Ohnishi A, Miyazaki S, Murai Y, Ueno S, Sakai H.
    Rinsho Shinkeigaku; 1996 Mar; 36(3):485-7. PubMed ID: 8741355
    [Abstract] [Full Text] [Related]

  • 3. Variance of age at onset in a Japanese family with amyotrophic lateral sclerosis associated with a novel Cu/Zn superoxide dismutase mutation.
    Aoki M, Abe K, Houi K, Ogasawara M, Matsubara Y, Kobayashi T, Mochio S, Narisawa K, Itoyama Y.
    Ann Neurol; 1995 May; 37(5):676-9. PubMed ID: 7755363
    [Abstract] [Full Text] [Related]

  • 4. [On intra-familial clinical diversities of a familial amyotrophic lateral sclerosis with a point mutation of Cu/Zn superoxide dismutase (Asn 86-Ser].
    Maeda T, Kurahashi K, Matsunaga M, Inoue K, Inoue M.
    No To Shinkei; 1997 Sep; 49(9):847-51. PubMed ID: 9311004
    [Abstract] [Full Text] [Related]

  • 5. 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; 3(2):69-74. PubMed ID: 12215228
    [Abstract] [Full Text] [Related]

  • 6. Identification of two novel mutations in the Cu/Zn superoxide dismutase gene with familial amyotrophic lateral sclerosis: mass spectrometric and genomic analyses.
    Sato T, Yamamoto Y, Nakanishi T, Fukada K, Sugai F, Zhou Z, Okuno T, Nagano S, Hirata S, Shimizu A, Sakoda S.
    J Neurol Sci; 2004 Mar 15; 218(1-2):79-83. PubMed ID: 14759637
    [Abstract] [Full Text] [Related]

  • 7. Identification of three mutations in the Cu,Zn-superoxide dismutase (Cu,Zn-SOD) gene with familial amyotrophic lateral sclerosis: transduction of human Cu,Zn-SOD into PC12 cells by HIV-1 TAT protein basic domain.
    Chou CM, Huang CJ, Shih CM, Chen YP, Liu TP, Chen CT.
    Ann N Y Acad Sci; 2005 May 15; 1042():303-13. PubMed ID: 15965076
    [Abstract] [Full Text] [Related]

  • 8. Copper/zinc superoxide dismutase 1 and sporadic amyotrophic lateral sclerosis: analysis of 155 cases and identification of a novel insertion mutation.
    Jackson M, Al-Chalabi A, Enayat ZE, Chioza B, Leigh PN, Morrison KE.
    Ann Neurol; 1997 Nov 15; 42(5):803-7. PubMed ID: 9392581
    [Abstract] [Full Text] [Related]

  • 9. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis.
    Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hentati A, Donaldson D, Goto J, O'Regan JP, Deng HX.
    Nature; 1993 Mar 04; 362(6415):59-62. PubMed ID: 8446170
    [Abstract] [Full Text] [Related]

  • 10. Variable clinical symptoms in familial amyotrophic lateral sclerosis with a novel point mutation in the Cu/Zn superoxide dismutase gene.
    Ikeda M, Abe K, Aoki M, Sahara M, Watanabe M, Shoji M, St George-Hyslop PH, Hirai S, Itoyama Y.
    Neurology; 1995 Nov 04; 45(11):2038-42. PubMed ID: 7501156
    [Abstract] [Full Text] [Related]

  • 11. Familial amyotrophic lateral sclerosis with bulbar onset and a novel Asp101Tyr Cu/Zn superoxide dismutase gene mutation.
    Tan CF, Piao YS, Hayashi S, Obata H, Umeda Y, Sato M, Fukushima T, Nakano R, Tsuji S, Takahashi H.
    Acta Neuropathol; 2004 Oct 04; 108(4):332-6. PubMed ID: 15235802
    [Abstract] [Full Text] [Related]

  • 12. 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]

  • 13. A rare Cu/Zn superoxide dismutase mutation causing familial amyotrophic lateral sclerosis with variable age of onset, incomplete penetrance and a sensory neuropathy.
    Rezania K, Yan J, Dellefave L, Deng HX, Siddique N, Pascuzzi RT, Siddique T, Roos RP.
    Amyotroph Lateral Scler Other Motor Neuron Disord; 2003 Sep 15; 4(3):162-6. PubMed ID: 13129803
    [Abstract] [Full Text] [Related]

  • 14. Familial amyotrophic lateral sclerosis with a two base pair deletion in superoxide dismutase 1: gene multisystem degeneration with intracytoplasmic hyaline inclusions in astrocytes.
    Kato S, Shimoda M, Watanabe Y, Nakashima K, Takahashi K, Ohama E.
    J Neuropathol Exp Neurol; 1996 Oct 15; 55(10):1089-101. PubMed ID: 8858006
    [Abstract] [Full Text] [Related]

  • 15. Proteasome inhibition enhances the stability of mouse Cu/Zn superoxide dismutase with mutations linked to familial amyotrophic lateral sclerosis.
    Hoffman EK, Wilcox HM, Scott RW, Siman R.
    J Neurol Sci; 1996 Jul 15; 139(1):15-20. PubMed ID: 8836967
    [Abstract] [Full Text] [Related]

  • 16. 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 15; 7(5):599-602. PubMed ID: 10439968
    [Abstract] [Full Text] [Related]

  • 17. Molecular analyses of the Cu/Zn superoxide dismutase gene in patients with familial amyotrophic lateral sclerosis (ALS) in Japan.
    Aoki M, Abe K, Itoyama Y.
    Cell Mol Neurobiol; 1998 Dec 15; 18(6):639-47. PubMed ID: 9876871
    [Abstract] [Full Text] [Related]

  • 18. Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase.
    Andersen PM, Nilsson P, Ala-Hurula V, Keränen ML, Tarvainen I, Haltia T, Nilsson L, Binzer M, Forsgren L, Marklund SL.
    Nat Genet; 1995 May 15; 10(1):61-6. PubMed ID: 7647793
    [Abstract] [Full Text] [Related]

  • 19. Familial amyotrophic lateral sclerosis (ALS) in Japan associated with H46R mutation in Cu/Zn superoxide dismutase gene: a possible new subtype of familial ALS.
    Aoki M, Ogasawara M, Matsubara Y, Narisawa K, Nakamura S, Itoyama Y, Abe K.
    J Neurol Sci; 1994 Oct 15; 126(1):77-83. PubMed ID: 7836951
    [Abstract] [Full Text] [Related]

  • 20. [Molecular mechanism of ALS and a possible gene therapy].
    Abe K, Warita H.
    Rinsho Shinkeigaku; 1999 Jan 15; 39(1):68-9. PubMed ID: 10377808
    [Abstract] [Full Text] [Related]

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