메뉴 건너뛰기




Volumn 136, Issue 1-2, 1996, Pages 108-116

Clinical characteristics of familial amyotrophic lateral sclerosis with Cu/Zn superoxide dismutase gene mutations

Author keywords

Amyotrophic lateral sclerosis; Familial; The Cu Zn SOD gene

Indexed keywords

COPPER ZINC SUPEROXIDE DISMUTASE;

EID: 0029983886     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/0022-510X(95)00314-R     Document Type: Article
Times cited : (76)

References (16)
  • 3
    • 0028168971 scopus 로고
    • 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. and Abe, K. (1994) Familial amyotrophic lateral sclerosis (ALS) in Japan associated with H46R mutation in Cu/Zn superoxide dismutase gene: a possible new subtype of familial ALS. J. Neurol. Sci., 126: 77-83.
    • (1994) J. Neurol. Sci. , vol.126 , pp. 77-83
    • Aoki, M.1    Ogasawara, M.2    Matsubara, Y.3    Narisawa, K.4    Nakamura, S.5    Itoyama, Y.6    Abe, K.7
  • 4
    • 0027426169 scopus 로고
    • Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase
    • Deng, H.-X., Hentati, A., Tainer, J.A. et al. (1993) Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase. Science, 261: 1047-1051.
    • (1993) Science , vol.261 , pp. 1047-1051
    • Deng, H.-X.1    Hentati, A.2    Tainer, J.A.3
  • 6
    • 0028123297 scopus 로고
    • Identification of a new missense point mutation in exon 4 of the Cu/Zn superoxide dismutase (SOD-1) gene in a family with amyotrophic lateral sclerosis
    • Elshafey, A., Lanyon, W.G., Conner, J.M. (1994) Identification of a new missense point mutation in exon 4 of the Cu/Zn superoxide dismutase (SOD-1) gene in a family with amyotrophic lateral sclerosis. Hum. Mol. Genet., 3: 363-364.
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 363-364
    • Elshafey, A.1    Lanyon, W.G.2    Conner, J.M.3
  • 7
    • 0028244477 scopus 로고
    • Identification of two novel mutations and a new polymorphism in the gene for Cu/Zn superoxide dismutase in patients with amyotrophic lateral sclerosis
    • Esteban, J., Rosen, D.R., Bowling, A.C. et al. (1994) Identification of two novel mutations and a new polymorphism in the gene for Cu/Zn superoxide dismutase in patients with amyotrophic lateral sclerosis. Hum. Mol. Genet., 3: 997-998.
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 997-998
    • Esteban, J.1    Rosen, D.R.2    Bowling, A.C.3
  • 8
    • 0028001606 scopus 로고
    • Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis
    • Fieglewicz, D.A., Krizus, A., Martinoli, M.G. et al. (1994) Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis. Hum. Mol. Genet., 3: 1757-1761.
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 1757-1761
    • Fieglewicz, D.A.1    Krizus, A.2    Martinoli, M.G.3
  • 10
    • 0028284779 scopus 로고
    • Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation
    • Gurney, M.E., Pu, H., Chiu, A.Y. et al. (1994) Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation. Science, 264: 1772-1775.
    • (1994) Science , vol.264 , pp. 1772-1775
    • Gurney, M.E.1    Pu, H.2    Chiu, A.Y.3
  • 12
    • 0028132231 scopus 로고
    • A new variant Cu/Zn superoxide dismutase (Val(7) → Glu) deduced from lymphocyte mRNA sequences from Japanese patients with familial amyotrophic lateral sclerosis
    • Hirano, M., Fujii, J., Sonobe, M., Okamoto, K., Araki, H., Taniguchi, N., Ueno, S. (1994) A new variant Cu/Zn superoxide dismutase (Val(7) → Glu) deduced from lymphocyte mRNA sequences from Japanese patients with familial amyotrophic lateral sclerosis. Biochem. Biophys. Res. Commun. 204: 572-577.
    • (1994) Biochem. Biophys. Res. Commun. , vol.204 , pp. 572-577
    • Hirano, M.1    Fujii, J.2    Sonobe, M.3    Okamoto, K.4    Araki, H.5    Taniguchi, N.6    Ueno, S.7
  • 13
    • 0017182853 scopus 로고
    • Familial motor neuron disease: Evidence for at least 3 different types
    • Horton, W.A., Eldridge, R., Brody, J.A. (1976) Familial motor neuron disease: evidence for at least 3 different types. Neurology, 26: 460-465.
    • (1976) Neurology , vol.26 , pp. 460-465
    • Horton, W.A.1    Eldridge, R.2    Brody, J.A.3
  • 15
    • 0028273306 scopus 로고
    • Identification of a novel SOD1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of Ile 113 Thr in three others
    • Jones, C.T., Swingler, R.J., Brock, D.J.H. (1994) Identification of a novel SOD1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of Ile 113 Thr in three others. Hum. Mol. Genet., 3: 649-650.
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 649-650
    • Jones, C.T.1    Swingler, R.J.2    Brock, D.J.H.3
  • 16
    • 0028771134 scopus 로고
    • Leu106 → Val (CtC → GTC) mutation of superoxide dismutase-1 gene in a patient with familial amyotrophic lateral sclerosis in Japan
    • Kawamata, J., Hasegawa, H., Shimohama S., Kimura, J., Tanaka, S., Ueda, K. (1994) Leu106 → Val (CtC → GTC) mutation of superoxide dismutase-1 gene in a patient with familial amyotrophic lateral sclerosis in Japan. Lancet 343: 1501.
    • (1994) Lancet , vol.343 , pp. 1501
    • Kawamata, J.1    Hasegawa, H.2    Shimohama, S.3    Kimura, J.4    Tanaka, S.5    Ueda, K.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.