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Journal Abstract Search

272 related items for PubMed ID: 11951178

  • 1. Early onset of severe familial amyotrophic lateral sclerosis with a SOD-1 mutation: potential impact of CNTF as a candidate modifier gene.
    Giess R, Holtmann B, Braga M, Grimm T, Müller-Myhsok B, Toyka KV, Sendtner M.
    Am J Hum Genet; 2002 May; 70(5):1277-86. PubMed ID: 11951178
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  • 3. Familial amyotrophic lateral sclerosis/motor neurone disease (FALS): a review of current developments.
    de Belleroche J, Orrell R, King A.
    J Med Genet; 1995 Nov; 32(11):841-7. PubMed ID: 8592323
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  • 4. Ciliary neurotrophic factor null alleles are not a risk factor for Charcot-Marie-Tooth disease, hereditary neuropathy with pressure palsies and amyotrophic lateral sclerosis.
    Van Vught PW, Van Wijk J, Bradley TE, Plasmans D, Jakobs ME, Veldink JH, de Jong JM, Van den Berg LH, Baas F.
    Neuromuscul Disord; 2007 Dec; 17(11-12):964-7. PubMed ID: 17651970
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  • 6. Clinical phenotypes of a large Chinese multigenerational kindred with autosomal dominant familial ALS due to Ile149Thr SOD1 gene mutation.
    Fong GC, Kwok KH, Song YQ, Cheng TS, Ho PW, Chu AC, Kung MH, Chan KH, Mak W, Cheung RT, Ramsden DB, Ho SL.
    Amyotroph Lateral Scler; 2006 Sep; 7(3):142-9. PubMed ID: 16963403
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  • 7. Familial amyotrophic lateral sclerosis with onset in bulbar sign, benign clinical course, and Bunina bodies: a clinical, genetic, and pathological study of a Japanese family.
    Tsuchiya K, Shintani S, Nakabayashi H, Kikugawa K, Nakano R, Haga C, Nakano I, Ikeda K, Tsuji S.
    Acta Neuropathol; 2000 Dec; 100(6):603-7. PubMed ID: 11078211
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  • 8. 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
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  • 10. A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q.
    Hand CK, Khoris J, Salachas F, Gros-Louis F, Lopes AA, Mayeux-Portas V, Brewer CG, Brown RH, Meininger V, Camu W, Rouleau GA.
    Am J Hum Genet; 2002 Jan; 70(1):251-6. PubMed ID: 11706389
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  • 11. Clinical characteristics of familial amyotrophic lateral sclerosis with Cu/Zn superoxide dismutase gene mutations.
    Abe K, Aoki M, Ikeda M, Watanabe M, Hirai S, Itoyama Y.
    J Neurol Sci; 1996 Mar; 136(1-2):108-16. PubMed ID: 8815157
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  • 12. Pathophysiology of neurodegeneration in familial amyotrophic lateral sclerosis.
    Vucic S, Kiernan MC.
    Curr Mol Med; 2009 Apr; 9(3):255-72. PubMed ID: 19355908
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  • 13. 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
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  • 14. Identification of a novel Cys146X mutation of SOD1 in familial amyotrophic lateral sclerosis by whole-exome sequencing.
    Wu J, Shen E, Shi D, Sun Z, Cai T.
    Genet Med; 2012 Sep; 14(9):823-6. PubMed ID: 22595939
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  • 16. Neuropathological changes in two lines of mice carrying a transgene for mutant human Cu,Zn SOD, and in mice overexpressing wild type human SOD: a model of familial amyotrophic lateral sclerosis (FALS).
    Dal Canto MC, Gurney ME.
    Brain Res; 1995 Apr 03; 676(1):25-40. PubMed ID: 7796176
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  • 18. 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 03; 11(4):404-10. PubMed ID: 11369193
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  • 19. Transgenic mice expressing an altered murine superoxide dismutase gene provide an animal model of amyotrophic lateral sclerosis.
    Ripps ME, Huntley GW, Hof PR, Morrison JH, Gordon JW.
    Proc Natl Acad Sci U S A; 1995 Jan 31; 92(3):689-93. PubMed ID: 7846037
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