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Volumn 42, Issue 2, 2002, Pages 175-177

Different clinical phenotypes of siblings with familial amyotrophic lateral sclerosis showing Cys146Arg point mutation of superoxide dismutase 1 gene

Author keywords

Cys146Arg; Familial amyotrophic lateral sclerosis; Point mutation; Superoxide dismutase gene

Indexed keywords

SUPEROXIDE DISMUTASE;

EID: 0036462835     PISSN: 0009918X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (7)

References (10)
  • 1
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    • Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
    • Rosen DR, Siddique T, Patterson D, et al: Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 362:59-62, 1993
    • (1993) Nature , vol.362 , pp. 59-62
    • Rosen, D.R.1    Siddique, T.2    Patterson, D.3
  • 3
    • 0000994658 scopus 로고    scopus 로고
    • Molecular pathological studies of familial amyotrophic lateral sclerosis
    • Murayama S, Namba E, Nishiyama K, et al: Molecular pathological studies of familial amyotrophic lateral sclerosis. Neuropathology 17 (Suppl):219, 1997
    • (1997) Neuropathology , vol.17 , Issue.SUPPL. , pp. 219
    • Murayama, S.1    Namba, E.2    Nishiyama, K.3
  • 4
    • 0030450004 scopus 로고    scopus 로고
    • Cu/Zn superoxide dismutase gene mutation in amyotrophic lateral sclerosis: Correlation between genotype and clinical features
    • Radunovic A, Leigh PN: Cu/Zn superoxide dismutase gene mutation in amyotrophic lateral sclerosis: Correlation between genotype and clinical features. J Neurol Neurosurg Psychiatry 61:565-572, 1996
    • (1996) J Neurol Neurosurg Psychiatry , vol.61 , pp. 565-572
    • Radunovic, A.1    Leigh, P.N.2
  • 5
    • 0028204413 scopus 로고
    • A novel mutation in Cu/Zn superoxide dismutase gene in Japanese familial amyotrophic lateral sclerosis
    • Nakano R, Sato S, Inuzuka T, et al: A novel mutation in Cu/Zn superoxide dismutase gene in Japanese familial amyotrophic lateral sclerosis. Biochem Biophys Res Comm 200:695-703, 1994
    • (1994) Biochem Biophys Res Comm , vol.200 , pp. 695-703
    • Nakano, R.1    Sato, S.2    Inuzuka, T.3
  • 8
    • 0029080304 scopus 로고
    • Familial amyotrophic lateral sclerosis with a point mutation of SOD1: Intrafamilial heterogeneity of disease duration associated with neurofibrillary tangles
    • Orrell R, King AW, Hilton DA, et al: Familial amyotrophic lateral sclerosis with a point mutation of SOD1: Intrafamilial heterogeneity of disease duration associated with neurofibrillary tangles. J Neurol Neurosurg Psychiatry: 266-270, 1995
    • (1995) J Neurol Neurosurg Psychiatry , pp. 266-270
    • Orrell, R.1    King, A.W.2    Hilton, D.A.3
  • 9
    • 0029400840 scopus 로고
    • 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, et al: Variable clinical symptoms in familial amyotrophic lateral sclerosis with a novel point mutation in the Cu/Zn superoxide dismutase gene. Neurology 45:2038-2042, 1995
    • (1995) Neurology , vol.45 , pp. 2038-2042
    • Ikeda, M.1    Abe, K.2    Aoki, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.