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Volumn 120, Issue 10, 1997, Pages 1723-1737

Phenotypic heterogeneity in motor neuron disease patients with CuZn-superoxide dismutase mutations in Scandinavia

Author keywords

Amyotrophic lateral sclerosis; Asp76Tyr CuZn SOD mutation; Asp90Ala CuZn SOD mutation; Progressive bulbar palsy

Indexed keywords

COPPER ZINC SUPEROXIDE DISMUTASE;

EID: 0030749160     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/120.10.1723     Document Type: Article
Times cited : (262)

References (88)
  • 1
    • 0029010496 scopus 로고
    • Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase
    • Andersen PM, Nilsson P, Ala-Hurula V, Keränen M-L, Tarvainen I, Haltia T, et al. Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase. Nat Genet 1995; 10: 61-6.
    • (1995) Nat Genet , vol.10 , pp. 61-66
    • Andersen, P.M.1    Nilsson, P.2    Ala-Hurula, V.3    Keränen, M.-L.4    Tarvainen, I.5    Haltia, T.6
  • 2
    • 9544236295 scopus 로고    scopus 로고
    • Autosomal recessive adult-onset amyotrophic lateral sclerosis associated with homozygosity for Asp90Ala CuZn-superoxide dismutase mutation. A clinical and genealogical study of 36 patients
    • Andersen PM, Forsgren L, Binzer M, Nilsson P, Ala-Hurula V, Keränen M-L, et al. Autosomal recessive adult-onset amyotrophic lateral sclerosis associated with homozygosity for Asp90Ala CuZn-superoxide dismutase mutation. A clinical and genealogical study of 36 patients. Brain 1996; 119: 1153-72.
    • (1996) Brain , vol.119 , pp. 1153-1172
    • Andersen, P.M.1    Forsgren, L.2    Binzer, M.3    Nilsson, P.4    Ala-Hurula, V.5    Keränen, M.-L.6
  • 3
    • 0027452090 scopus 로고
    • Mild ALS in Japan associated with novel SOD mutation
    • published erratum appears in Nat Genet 1994; 6: 225
    • Aoki M, Ogasawara M, Matsubara Y, Narisawa K, Nakamura S, Itoyama Y, et al. Mild ALS in Japan associated with novel SOD mutation [letter] [published erratum appears in Nat Genet 1994; 6: 225]. Nat Genet 1993; 5: 323-4.
    • (1993) Nat Genet , vol.5 , pp. 323-324
    • Aoki, M.1    Ogasawara, M.2    Matsubara, Y.3    Narisawa, K.4    Nakamura, S.5    Itoyama, Y.6
  • 4
    • 0029005002 scopus 로고
    • 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, et al. Variance of age at onset in a Japanese family with amyotrophic lateral sclerosis associated with a novel Cu/Zn Superoxide dismutase mutation. Ann Neurol 1995; 37: 676-9.
    • (1995) Ann Neurol , vol.37 , pp. 676-679
    • Aoki, M.1    Abe, K.2    Houi, K.3    Ogasawara, M.4    Matsubara, Y.5    Kobayashi, T.6
  • 5
    • 0003119862 scopus 로고
    • Researches sur une maladie non encore décrite du système musculaire (atrophie musculaire progressive)
    • Aran FA. Researches sur une maladie non encore décrite du système musculaire (atrophie musculaire progressive). Arch Gén Méd 1850; 24; 4-35, 172-214.
    • (1850) Arch Gén Méd , vol.24 , pp. 4-35
    • Aran, F.A.1
  • 6
    • 0020079794 scopus 로고
    • Regular involvement of Clarke's nucleus in sporadic amyotrophic lateral sclerosis
    • Averback P, Crocker P. Regular involvement of Clarke's nucleus in sporadic amyotrophic lateral sclerosis. Arch Neurol 1982; 39; 155-6.
    • (1982) Arch Neurol , vol.39 , pp. 155-156
    • Averback, P.1    Crocker, P.2
  • 7
    • 0015849518 scopus 로고
    • Population studies in northern Sweden. VI. Polymorphism of Superoxide dismutase
    • Beckman G. Population studies in northern Sweden. VI. Polymorphism of Superoxide dismutase. Hereditas 1973; 73: 305-10.
    • (1973) Hereditas , vol.73 , pp. 305-310
    • Beckman, G.1
  • 9
    • 0030993978 scopus 로고    scopus 로고
    • A novel SOD1 mutation in an Austrian family with amyotrophic lateral sclerosis
    • Bereznai B, Winkler A, Borasio GD, Gasser T. A novel SOD1 mutation in an Austrian family with amyotrophic lateral sclerosis. Neuromuscul Disord 1997; 7: 113-6.
    • (1997) Neuromuscul Disord , vol.7 , pp. 113-116
    • Bereznai, B.1    Winkler, A.2    Borasio, G.D.3    Gasser, T.4
  • 10
    • 0027965073 scopus 로고
    • Superoxide dismutase 1 with mutations linked to familial amyotrophic lateral sclerosis possesses significant activity
    • Borchelt DR, Lee MK, Slunt HS, Guarnieri M, Xu Z-S, Wong PC, et al. Superoxide dismutase 1 with mutations linked to familial amyotrophic lateral sclerosis possesses significant activity. Proc Natl Acad Sci USA 1994; 91: 8292-6.
    • (1994) Proc Natl Acad Sci USA , vol.91 , pp. 8292-8296
    • Borchelt, D.R.1    Lee, M.K.2    Slunt, H.S.3    Guarnieri, M.4    Xu, Z.-S.5    Wong, P.C.6
  • 11
    • 0028228085 scopus 로고
    • Conserved patterns in the Cu,Zn superoxide dismutase family
    • Bordo D, Djinovic K, Bolognesi M. Conserved patterns in the Cu,Zn superoxide dismutase family. J Mol Biol 1994; 238: 366-86.
    • (1994) J Mol Biol , vol.238 , pp. 366-386
    • Bordo, D.1    Djinovic, K.2    Bolognesi, M.3
  • 13
    • 0028142392 scopus 로고
    • El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis. Subcommittee on Motor Neuron Diseases/Amyotrophic Lateral Sclerosis of the World Federation of Neurology Research Group on Neuromuscular Diseases and the El Escorial 'Clinical limits of amyotrophic lateral sclerosis' workshop contributors
    • Brooks BR. El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis. Subcommittee on Motor Neuron Diseases/Amyotrophic Lateral Sclerosis of the World Federation of Neurology Research Group on Neuromuscular Diseases and the El Escorial 'Clinical limits of amyotrophic lateral sclerosis' workshop contributors. J Neurol Sci 1994; 124 Suppl: 96-107.
    • (1994) J Neurol Sci , vol.124 , Issue.SUPPL. , pp. 96-107
    • Brooks, B.R.1
  • 14
    • 0028987929 scopus 로고
    • Superoxide dismutase (glu100-→gly) in a family with inherited motor neuron disease: Detection of mutant superoxide dismutase activity and the presence of heterodimers
    • Calder VL, Domigan NM, George PM, Donaldson IM, Winterbourn CC. Superoxide dismutase (glu100-→gly) in a family with inherited motor neuron disease: detection of mutant superoxide dismutase activity and the presence of heterodimers. Neurosci Lett 1995; 189: 143-6.
    • (1995) Neurosci Lett , vol.189 , pp. 143-146
    • Calder, V.L.1    Domigan, N.M.2    George, P.M.3    Donaldson, I.M.4    Winterbourn, C.C.5
  • 15
    • 1842350593 scopus 로고
    • Series 2. [Sigerson G, translator and editor]. London: New Sydenham Society
    • Charcot JM. Lectures on the diseases of the nervous system, Vol. 2, Series 2. [Sigerson G, translator and editor]. London: New Sydenham Society, 1881: 195-7.
    • (1881) Lectures on the Diseases of the Nervous System , vol.2 , pp. 195-197
    • Charcot, J.M.1
  • 16
    • 0000280462 scopus 로고
    • Deux cas d'atrophie musculaire progressive avec lésions de la substance grise et des faisceaux antéro-latéraux de la moelle épinière
    • Charcot JM, Joffroy A. Deux cas d'atrophie musculaire progressive avec lésions de la substance grise et des faisceaux antéro-latéraux de la moelle épinière. Arch Physiol Norm Path 1869; 2: 744-60.
    • (1869) Arch Physiol Norm Path , vol.2 , pp. 744-760
    • Charcot, J.M.1    Joffroy, A.2
  • 17
    • 0027426169 scopus 로고
    • Amyotrophic lateral sclerosis and structural defects in CuZn superoxide dismutase
    • Deng H-X, Hentati A, Tainer JA, Iqbal Z, Cayabyab A, Hung W-Y, et al. Amyotrophic lateral sclerosis and structural defects in CuZn superoxide dismutase [see comments]. Science 1993; 261: 1047-51. Comment in: Science 1993; 261: 986.
    • (1993) Science , vol.261 , pp. 1047-1051
    • Deng, H.-X.1    Hentati, A.2    Tainer, J.A.3    Iqbal, Z.4    Cayabyab, A.5    Hung, W.-Y.6
  • 18
    • 0027486893 scopus 로고
    • Deng H-X, Hentati A, Tainer JA, Iqbal Z, Cayabyab A, Hung W-Y, et al. Amyotrophic lateral sclerosis and structural defects in CuZn superoxide dismutase [see comments]. Science 1993; 261: 1047-51. Comment in: Science 1993; 261: 986.
    • (1993) Science , vol.261 , pp. 986
  • 19
    • 0029003428 scopus 로고
    • Two novel SODI mutations in patients with familial amyotrophic lateral sclerosis
    • Deng H-X, Tainer JA, Mitsumoto H, Ohnishi A, He X, Hung W-Y, et al. Two novel SODI mutations in patients with familial amyotrophic lateral sclerosis. Hum Mol Genet 1995; 4: 1113-6.
    • (1995) Hum Mol Genet , vol.4 , pp. 1113-1116
    • Deng, H.-X.1    Tainer, J.A.2    Mitsumoto, H.3    Ohnishi, A.4    He, X.5    Hung, W.-Y.6
  • 20
    • 0038803549 scopus 로고
    • Paralysie musculaire progressive de la langue, du voile du palais et des lèvres: Affection non encore décrite comme espèce morbide distincte
    • Duchenne GBA. Paralysie musculaire progressive de la langue, du voile du palais et des lèvres: affection non encore décrite comme espèce morbide distincte. Arch Gen Med 1860; 16: 283-96, 431-45.
    • (1860) Arch Gen Med , vol.16 , pp. 283-296
    • Duchenne, G.B.A.1
  • 21
    • 0028123297 scopus 로고
    • Identification of a new missense mutation in exon 4 of the Cu/Zn Superoxide dismutase (SOD-1) gene in a family with amyotrophic lateral sclerosis
    • Elshafey A, Lanyon WG, Connor JM. Identification of a new missense mutation in exon 4 of the Cu/Zn Superoxide dismutase (SOD-1) gene in a family with amyotrophic lateral sclerosis. Hum Mol Genet 1994; 3: 363-4.
    • (1994) Hum Mol Genet , vol.3 , pp. 363-364
    • Elshafey, A.1    Lanyon, W.G.2    Connor, J.M.3
  • 22
    • 0029047111 scopus 로고
    • Two novel mutations in the gene for copper zinc Superoxide dismutase in UK families with amyotrophic lateral sclerosis
    • Enayat ZE, Orrell RW, Claus A, Ludolph A, Bachus R, Brockmüller J, et al. Two novel mutations in the gene for copper zinc Superoxide dismutase in UK families with amyotrophic lateral sclerosis. Hum Mol Genet 1995; 4: 1239-40.
    • (1995) Hum Mol Genet , vol.4 , pp. 1239-1240
    • Enayat, Z.E.1    Orrell, R.W.2    Claus, A.3    Ludolph, A.4    Bachus, R.5    Brockmüller, J.6
  • 23
    • 13344257516 scopus 로고
    • An inherited disease similar to amyotrophic lateral sclerosis with a pattern of posterior column involvement. An intermediate form?
    • Engel WK, Kurland LT, Klatzo I. An inherited disease similar to amyotrophic lateral sclerosis with a pattern of posterior column involvement. An intermediate form? Brain 1959; 82: 203-20.
    • (1959) Brain , vol.82 , pp. 203-220
    • Engel, W.K.1    Kurland, L.T.2    Klatzo, I.3
  • 24
    • 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 DR, Bowling AC, Sapp P, McKenna-Yasek D, O'Regan JP, et al. 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 1994; 3: 997-8.
    • (1994) Hum Mol Genet , vol.3 , pp. 997-998
    • Esteban, J.1    Rosen, D.R.2    Bowling, A.C.3    Sapp, P.4    McKenna-Yasek, D.5    O'Regan, J.P.6
  • 26
    • 0025272583 scopus 로고
    • Association between Alzheimer disease and amyotrophic lateral sclerosis?
    • Frecker MF, Fraser FC, Andermann E, Pryse-Phillips WEM. Association between Alzheimer disease and amyotrophic lateral sclerosis? [see comments]. Can J Neurol Sci 1990; 17: 12-4. Comment in: Can J Neurol Sci 1990; 17: 352.
    • (1990) Can J Neurol Sci , vol.17 , pp. 12-14
    • Frecker, M.F.1    Fraser, F.C.2    Andermann, E.3    Pryse-Phillips, W.E.M.4
  • 27
    • 0025195904 scopus 로고
    • Frecker MF, Fraser FC, Andermann E, Pryse-Phillips WEM. Association between Alzheimer disease and amyotrophic lateral sclerosis? [see comments]. Can J Neurol Sci 1990; 17: 12-4. Comment in: Can J Neurol Sci 1990; 17: 352.
    • (1990) Can J Neurol Sci , vol.17 , pp. 352
  • 28
    • 0024411652 scopus 로고
    • Evolution of CuZn Superoxide dismutase and the Greek key β-barrel structural motif
    • published erratum appears in Proteins 1990; 8: 398-9
    • Getzoff ED, Tainer JA, Stempien MM, Bell GI, Hallewell RA. Evolution of CuZn Superoxide dismutase and the Greek key β-barrel structural motif [published erratum appears in Proteins 1990; 8: 398-9]. Proteins 1989; 5: 322-36.
    • (1989) Proteins , vol.5 , pp. 322-336
    • Getzoff, E.D.1    Tainer, J.A.2    Stempien, M.M.3    Bell, G.I.4    Hallewell, R.A.5
  • 30
    • 0025950676 scopus 로고
    • Motor neuron disease and dementia reported among 13 members of a single family
    • Gunnarsson L-G, Dahlbom K, Strandman E. Motor neuron disease and dementia reported among 13 members of a single family. Acta Neurol Scand 1991; 84: 429-33.
    • (1991) Acta Neurol Scand , vol.84 , pp. 429-433
    • Gunnarsson, L.-G.1    Dahlbom, K.2    Strandman, E.3
  • 31
    • 0028284779 scopus 로고
    • Motor neuron degeneration in mice that express a human CuZn Superoxide dismutase mutation
    • published erratum appears in Science 1995; 269: 149
    • Gurney ME, Pu H, Chiu AY, Dal Canto MC, Polchow CY, Alexander DD, et al. Motor neuron degeneration in mice that express a human CuZn Superoxide dismutase mutation [see comments] [published erratum appears in Science 1995; 269: 149]. Science 1994; 264: 1772-5. Comment in: Science 1994; 264: 1663-4, Comment in: Science 1994; 266: 1586-7.
    • (1994) Science , vol.264 , pp. 1772-1775
    • Gurney, M.E.1    Pu, H.2    Chiu, A.Y.3    Dal Canto, M.C.4    Polchow, C.Y.5    Alexander, D.D.6
  • 32
    • 0028242704 scopus 로고
    • Gurney ME, Pu H, Chiu AY, Dal Canto MC, Polchow CY, Alexander DD, et al. Motor neuron degeneration in mice that express a human CuZn Superoxide dismutase mutation [see comments] [published erratum appears in Science 1995; 269: 149]. Science 1994; 264: 1772-5. Comment in: Science 1994; 264: 1663-4, Comment in: Science 1994; 266: 1586-7.
    • (1994) Science , vol.264 , pp. 1663-1664
  • 33
    • 0028670876 scopus 로고
    • Gurney ME, Pu H, Chiu AY, Dal Canto MC, Polchow CY, Alexander DD, et al. Motor neuron degeneration in mice that express a human CuZn Superoxide dismutase mutation [see comments] [published erratum appears in Science 1995; 269: 149]. Science 1994; 264: 1772-5. Comment in: Science 1994; 264: 1663-4, Comment in: Science 1994; 266: 1586-7.
    • (1994) Science , vol.266 , pp. 1586-1587
  • 34
    • 1842402352 scopus 로고    scopus 로고
    • A 4-bp insertion in the CuZn-superoxide dismutase gene associated with familial amyotrophic lateral sclerosis
    • In press
    • Hansen C, Gredal O, Werdelin L, Andersen PM, Marklund SL, Nilsson P, et al. A 4-bp insertion in the CuZn-superoxide dismutase gene associated with familial amyotrophic lateral sclerosis. Hum Mutat 1997. In press.
    • (1997) Hum Mutat
    • Hansen, C.1    Gredal, O.2    Werdelin, L.3    Andersen, P.M.4    Marklund, S.L.5    Nilsson, P.6
  • 35
    • 0029037348 scopus 로고
    • Natural history of amyotrophic lateral sclerosis in a database population
    • Haverkamp LJ, Appel V, Appel SH. Natural history of amyotrophic lateral sclerosis in a database population. Brain 1995; 118: 707-19.
    • (1995) Brain , vol.118 , pp. 707-719
    • Haverkamp, L.J.1    Appel, V.2    Appel, S.H.3
  • 36
    • 0014063240 scopus 로고
    • Familial amyotrophic lateral sclerosis. A subgroup characterized by posterior and spinocerebellar tract involvement and hyaline inclusions in the anterior horn cells
    • Hirano A, Kurland LT, Sayre GP. Familial amyotrophic lateral sclerosis. A subgroup characterized by posterior and spinocerebellar tract involvement and hyaline inclusions in the anterior horn cells. Arch Neurol 1967; 16: 232-43.
    • (1967) Arch Neurol , vol.16 , pp. 232-243
    • Hirano, A.1    Kurland, L.T.2    Sayre, G.P.3
  • 37
    • 0028132231 scopus 로고
    • A new variant Cu/Zn Superoxide dismutase (Val7-→Glu) deduced from lymphocyte mRNA sequences from Japanese patients with familial amyotrophic lateral sclerosis
    • Hirano M, Fujii J, Nagai Y, Sonobe K, Okamoto K, Araki H, et al. A new variant Cu/Zn Superoxide dismutase (Val7-→Glu) deduced from lymphocyte mRNA sequences from Japanese patients with familial amyotrophic lateral sclerosis. Biochem Biophys Res Commun 1994; 204: 572-7.
    • (1994) Biochem Biophys Res Commun , vol.204 , pp. 572-577
    • Hirano, M.1    Fujii, J.2    Nagai, Y.3    Sonobe, K.4    Okamoto, K.5    Araki, H.6
  • 38
    • 0017182853 scopus 로고
    • Familial motor neuron disease. Evidence for at least three different types
    • Horton WA, Eldridge R, Brody JA. Familial motor neuron disease. Evidence for at least three different types. Neurology 1976; 26: 460-5.
    • (1976) Neurology , vol.26 , pp. 460-465
    • Horton, W.A.1    Eldridge, R.2    Brody, J.A.3
  • 39
    • 0343537868 scopus 로고    scopus 로고
    • Three novel mutations and two variants in the gene for Cu/Zn Superoxide dismutase in familial amyotrophic lateral sclerosis
    • Hosler BA, Nicholson GA, Sapp PC, Chin W, Orrell RW, de Belleroche JS, et al. Three novel mutations and two variants in the gene for Cu/Zn Superoxide dismutase in familial amyotrophic lateral sclerosis. Neuromuscul Disord 1996; 6: 361-6.
    • (1996) Neuromuscul Disord , vol.6 , pp. 361-366
    • Hosler, B.A.1    Nicholson, G.A.2    Sapp, P.C.3    Chin, W.4    Orrell, R.W.5    De Belleroche, J.S.6
  • 40
    • 0019850528 scopus 로고
    • Amyotrophic lateral sclerosis and its association with dementia, parkinsonism and other neurologial disorders: A review
    • Hudson AJ. Amyotrophic lateral sclerosis and its association with dementia, parkinsonism and other neurologial disorders: a review. [Review]. Brain 1981; 104: 217-47.
    • (1981) Brain , vol.104 , pp. 217-247
    • Hudson, A.J.1
  • 41
    • 0028956222 scopus 로고
    • A novel point mutation in the Cu/Zn Superoxide dismutase gene in a patient with familial amyotrophic lateral sclerosis
    • Ikeda M, Abe K, Aoki M, Ogasawara M, Kameya T, Watanabe M, et al. A novel point mutation in the Cu/Zn Superoxide dismutase gene in a patient with familial amyotrophic lateral sclerosis. Hum Mol Genet 1995a; 4: 491-2.
    • (1995) Hum Mol Genet , vol.4 , pp. 491-492
    • Ikeda, M.1    Abe, K.2    Aoki, M.3    Ogasawara, M.4    Kameya, T.5    Watanabe, M.6
  • 42
    • 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, Sahara M, Watanabe M, Shoji M, et al. Variable clinical symptoms in familial amyotrophic lateral sclerosis with a novel point mutation in the Cu/Zn Superoxide dismutase gene. Neurology 1995b; 45: 2038-42.
    • (1995) Neurology , vol.45 , pp. 2038-2042
    • Ikeda, M.1    Abe, K.2    Aoki, M.3    Sahara, M.4    Watanabe, M.5    Shoji, M.6
  • 43
    • 0029792449 scopus 로고    scopus 로고
    • Familial amyotrophic lateral sclerosis with a mutation in exon 4 of the Cu/Zn superoxide dismutase gene: Pathological and immunocytochemical changes
    • Berl
    • Ince PG, Shaw PJ, Slade JY, Jones C, Hudgson P. Familial amyotrophic lateral sclerosis with a mutation in exon 4 of the Cu/Zn superoxide dismutase gene: pathological and immunocytochemical changes. Acta Neuropathol (Berl) 1996; 92: 395-403.
    • (1996) Acta Neuropathol , vol.92 , pp. 395-403
    • Ince, P.G.1    Shaw, P.J.2    Slade, J.Y.3    Jones, C.4    Hudgson, P.5
  • 45
    • 0028273306 scopus 로고
    • Identification of a novel SOD1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of Ile113Thr in three others
    • Jones CT, Swingler RJ, Brock DJH. Identification of a novel SOD1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of Ile113Thr in three others. Hum Mol Genet 1994a; 3: 649-50.
    • (1994) Hum Mol Genet , vol.3 , pp. 649-650
    • Jones, C.T.1    Swingler, R.J.2    Brock, D.J.H.3
  • 46
    • 0027944708 scopus 로고
    • Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient
    • Jones CT, Shaw PJ, Chari G, Brock DJH. Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient. Mol Cell Probes 1994b; 8: 329-30.
    • (1994) Mol Cell Probes , vol.8 , pp. 329-330
    • Jones, C.T.1    Shaw, P.J.2    Chari, G.3    Brock, D.J.H.4
  • 47
    • 0028916910 scopus 로고
    • Superoxide dismutase mutations in an unselected cohort of Scottish amyotrophic lateral sclerosis patients
    • Jones CT, Swingler RJ, Simpson SA, Brock DJH. Superoxide dismutase mutations in an unselected cohort of Scottish amyotrophic lateral sclerosis patients. J Med Genet 1995; 32: 290-2.
    • (1995) J Med Genet , vol.32 , pp. 290-292
    • Jones, C.T.1    Swingler, R.J.2    Simpson, S.A.3    Brock, D.J.H.4
  • 51
    • 0029881099 scopus 로고    scopus 로고
    • Skin involvement in amyotrophic lateral sclerosis
    • Kolde G, Bachus R, Ludolph AC. Skin involvement in amyotrophic lateral sclerosis. Lancet 1996; 347: 1226-7.
    • (1996) Lancet , vol.347 , pp. 1226-1227
    • Kolde, G.1    Bachus, R.2    Ludolph, A.C.3
  • 52
    • 0028601342 scopus 로고
    • Autosomal dominant amyotrophic lateral sclerosis: A novel mutation in the Cu/Zn Superoxide dismutase-1 gene
    • Kostrzewa M, Burck-Lehmann, Müller U. Autosomal dominant amyotrophic lateral sclerosis: a novel mutation in the Cu/Zn Superoxide dismutase-1 gene. Hum Mol Genet 1994; 3: 2261-2.
    • (1994) Hum Mol Genet , vol.3 , pp. 2261-2262
    • Kostrzewa, M.1    Burck-Lehmann2    Müller, U.3
  • 53
    • 0029977273 scopus 로고    scopus 로고
    • Superoxide dismutase 1: Identification of a novel mutation in a case of familial amyotrophic lateral sclerosis
    • Kostrzewa M, Damian MS, Müller U. Superoxide dismutase 1: identification of a novel mutation in a case of familial amyotrophic lateral sclerosis. Hum Genet 1996; 98: 48-50.
    • (1996) Hum Genet , vol.98 , pp. 48-50
    • Kostrzewa, M.1    Damian, M.S.2    Müller, U.3
  • 54
    • 0017762928 scopus 로고
    • Motor neuron disease. Prognosis and epidemiology
    • Kristensen O, Melgaard B. Motor neuron disease. Prognosis and epidemiology. Acta Neurol Scand 1977; 56: 299-308.
    • (1977) Acta Neurol Scand , vol.56 , pp. 299-308
    • Kristensen, O.1    Melgaard, B.2
  • 55
    • 0017089936 scopus 로고
    • Spectrophotometric study of spontaneous disproportionation of Superoxide anion radical and sensitive direct assay for Superoxide dismutase
    • Marklund S. Spectrophotometric study of spontaneous disproportionation of Superoxide anion radical and sensitive direct assay for Superoxide dismutase. J Biol Chem 1976; 251: 7504-7.
    • (1976) J Biol Chem , vol.251 , pp. 7504-7507
    • Marklund, S.1
  • 56
    • 84987232523 scopus 로고
    • Direct assay with potassium Superoxide
    • Greenwald RA editor. Boca Raton (FL): CRC Press
    • Marklund SL. Direct assay with potassium Superoxide. In: Greenwald RA editor. Handbook of methods for oxygen radical research. Boca Raton (FL): CRC Press, 1985: 249-55.
    • (1985) Handbook of Methods for Oxygen Radical Research , pp. 249-255
    • Marklund, S.L.1
  • 57
    • 0030052392 scopus 로고    scopus 로고
    • A novel two-base mutation in the Cu/Zn Superoxide dismutase gene associated with familial amyotrophic lateral sclerosis in Japan
    • Morita M, Aoki M, Abe K, Hasegawa T, Sakuma R, Onodera Y, et al. A novel two-base mutation in the Cu/Zn Superoxide dismutase gene associated with familial amyotrophic lateral sclerosis in Japan. Neurosci Lett 1996; 205: 79-82.
    • (1996) Neurosci Lett , vol.205 , pp. 79-82
    • Morita, M.1    Aoki, M.2    Abe, K.3    Hasegawa, T.4    Sakuma, R.5    Onodera, Y.6
  • 59
    • 0028204413 scopus 로고
    • A novel mutation in Cu/Zn Superoxide dismutase gene in Japanese familial amyotrophic lateral sclerosis
    • Nakano R, Sato S, Inuzuka T, Sakimura K, Mishina M, Takahashi H, et al. A novel mutation in Cu/Zn Superoxide dismutase gene in Japanese familial amyotrophic lateral sclerosis. Bichem Biophys Res Commun 1994; 200: 695-703.
    • (1994) Bichem Biophys Res Commun , vol.200 , pp. 695-703
    • Nakano, R.1    Sato, S.2    Inuzuka, T.3    Sakimura, K.4    Mishina, M.5    Takahashi, H.6
  • 60
    • 0029020394 scopus 로고
    • Abnormality of Cu/Zn Superoxide dismutase (SOD1) activity in Japanese familial amyotrophic lateral sclerosis with two base pair deletion in the SOD1 gene
    • Nakashima K, Watanabe Y, Kuno N, Nanba E, Takahashi K. Abnormality of Cu/Zn Superoxide dismutase (SOD1) activity in Japanese familial amyotrophic lateral sclerosis with two base pair deletion in the SOD1 gene. Neurology 1995; 45: 1019-20.
    • (1995) Neurology , vol.45 , pp. 1019-1020
    • Nakashima, K.1    Watanabe, Y.2    Kuno, N.3    Nanba, E.4    Takahashi, K.5
  • 61
    • 0015436884 scopus 로고
    • The Finnish population structure. A genetic and genealogical study
    • Nevanlinna HR. The Finnish population structure. A genetic and genealogical study. Hereditas 1972; 71: 195-236.
    • (1972) Hereditas , vol.71 , pp. 195-236
    • Nevanlinna, H.R.1
  • 63
    • 0028811152 scopus 로고
    • Orrell R, de Belleroche J, Marklund S, Bowe F, Hallewell R. A novel SOD mutant and ALS [letter] [see comments]. Nature 1995a; 374: 504-5. Comment in: Nature 1995; 378: 342-3.
    • (1995) Nature , vol.378 , pp. 342-343
  • 64
    • 0029080304 scopus 로고
    • Familial amyotrophic lateral sclerosis with a point mutation of SOD-1: Intrafamilial heterogeneity of disease duration associated with neurofibrillary tangles
    • Orrell RW, King AW, Hilton DA, Campbell MJ, Lane RJM, Belleroche JS. Familial amyotrophic lateral sclerosis with a point mutation of SOD-1: intrafamilial heterogeneity of disease duration associated with neurofibrillary tangles. J Neurol Neurosurg Psychiatry 1995b; 59: 266-70.
    • (1995) J Neurol Neurosurg Psychiatry , vol.59 , pp. 266-270
    • Orrell, R.W.1    King, A.W.2    Hilton, D.A.3    Campbell, M.J.4    Lane, R.J.M.5    Belleroche, J.S.6
  • 65
    • 0030945491 scopus 로고    scopus 로고
    • Clinical and functional investigation of 10 missense mutations and a novel frameshift insertion mutation of the gene for copper-zinc Superoxide dismutase in UK families with amyotrophic lateral sclerosis
    • Orrell RW, Habgood JJ, Gardiner I, King AW, Bowe FA, Hallewell RA, et al. Clinical and functional investigation of 10 missense mutations and a novel frameshift insertion mutation of the gene for copper-zinc Superoxide dismutase in UK families with amyotrophic lateral sclerosis. Neurology 1997a; 48: 746-51.
    • (1997) Neurology , vol.48 , pp. 746-751
    • Orrell, R.W.1    Habgood, J.J.2    Gardiner, I.3    King, A.W.4    Bowe, F.A.5    Hallewell, R.A.6
  • 67
    • 0028067985 scopus 로고
    • A two basepair deletion in the SOD1 gene causes familial amyotrophic lateral sclerosis
    • Pramatarova A, Goto J, Nanba E, Nakashima K, Takahashi K, Takagi A, et al. A two basepair deletion in the SOD1 gene causes familial amyotrophic lateral sclerosis. Hum Mol Genet 1994; 3: 2061-2.
    • (1994) Hum Mol Genet , vol.3 , pp. 2061-2062
    • Pramatarova, A.1    Goto, J.2    Nanba, E.3    Nakashima, K.4    Takahashi, K.5    Takagi, A.6
  • 68
    • 0028918944 scopus 로고
    • Identification of new mutations in the Cu/Zn Superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis
    • Pramatarova A, Figlewicz DA, Krizus A, Han FY, Ceballos-Picot I, Nicole A, et al. Identification of new mutations in the Cu/Zn Superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis. Am J Hum Genet 1995; 56: 592-6.
    • (1995) Am J Hum Genet , vol.56 , pp. 592-596
    • Pramatarova, A.1    Figlewicz, D.A.2    Krizus, A.3    Han, F.Y.4    Ceballos-Picot, I.5    Nicole, A.6
  • 69
    • 0028915976 scopus 로고
    • Mutations associated with amyotrophic lateral sclerosis convert Superoxide dismutase from an antiapoptotic gene to a proapoptotic gene: Studies in yeast and neural cells
    • Rabizadeh S, Gralla EB, Borchelt DR, Gwinn R, Valentine JS, Sisodia S, et al. Mutations associated with amyotrophic lateral sclerosis convert Superoxide dismutase from an antiapoptotic gene to a proapoptotic gene: studies in yeast and neural cells. Proc Natl Acad Sci USA 1995; 92: 3024-8.
    • (1995) Proc Natl Acad Sci USA , vol.92 , pp. 3024-3028
    • Rabizadeh, S.1    Gralla, E.B.2    Borchelt, D.R.3    Gwinn, R.4    Valentine, J.S.5    Sisodia, S.6
  • 70
    • 0030450004 scopus 로고    scopus 로고
    • Cu/Zn Superoxide dismutase gene mutations in amyotrophic lateral sclerosis. Correlation between genotype and clinical features
    • Radunovic A, Leigh PN. Cu/Zn Superoxide dismutase gene mutations in amyotrophic lateral sclerosis. correlation between genotype and clinical features. [Review]. J Neurol Neurosurg Psychiatry 1996; 61: 565-72.
    • (1996) J Neurol Neurosurg Psychiatry , vol.61 , pp. 565-572
    • Radunovic, A.1    Leigh, P.N.2
  • 71
    • 0028888945 scopus 로고
    • 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. Transgenic mice expressing an altered murine Superoxide dismutase gene provide an animal model of amyotrophic lateral sclerosis. Proc Natl Acad Sci USA 1995; 92: 689-93.
    • (1995) Proc Natl Acad Sci USA , vol.92 , pp. 689-693
    • Ripps, M.E.1    Huntley, G.W.2    Hof, P.R.3    Morrison, J.H.4    Gordon, J.W.5
  • 72
    • 0029854883 scopus 로고    scopus 로고
    • D90A heterozygosity in the SOD1 gene is associated with familial and apparently sporadic amyotrophic lateral sclerosis
    • Robberecht W, Aguirre T, Van den Bosch L, Tilkin P, Cassiman JJ, Matthijs G. D90A heterozygosity in the SOD1 gene is associated with familial and apparently sporadic amyotrophic lateral sclerosis. Neurology 1996; 47: 1336-9.
    • (1996) Neurology , vol.47 , pp. 1336-1339
    • Robberecht, W.1    Aguirre, T.2    Van Den Bosch, L.3    Tilkin, P.4    Cassiman, J.J.5    Matthijs, G.6
  • 73
    • 0017330502 scopus 로고
    • Studies on epidemiological, clinical, and etiological aspects of ALS disease in Sardinia, Southern Italy
    • Rosati G, Pinna L, Granieri E, Aiello I, Tola R, Agnetti V, et al. Studies on epidemiological, clinical, and etiological aspects of ALS disease in Sardinia, Southern Italy. Acta Neurol Scand 1977; 55: 231-44.
    • (1977) Acta Neurol Scand , vol.55 , pp. 231-244
    • Rosati, G.1    Pinna, L.2    Granieri, E.3    Aiello, I.4    Tola, R.5    Agnetti, V.6
  • 74
    • 0027401203 scopus 로고
    • Mutations in Cu/Zn Superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
    • published erratum appears in Nature 1993; 364: 362 [see comments]
    • Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hentati, A et al. Mutations in Cu/Zn Superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis [published erratum appears in Nature 1993; 364: 362] [see comments]. Nature 1993; 362: 59-62. Comment in: Nature 1993; 362: 20-1.
    • (1993) Nature , vol.362 , pp. 59-62
    • Rosen, D.R.1    Siddique, T.2    Patterson, D.3    Figlewicz, D.A.4    Sapp, P.5    Hentati, A.6
  • 75
    • 0345046828 scopus 로고
    • Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hentati, A et al. Mutations in Cu/Zn Superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis [published erratum appears in Nature 1993; 364: 362] [see comments]. Nature 1993; 362: 59-62. Comment in: Nature 1993; 362: 20-1.
    • (1993) Nature , vol.362 , pp. 20-21
  • 76
    • 0028343223 scopus 로고
    • A frequent ala 4 to val Superoxide dismutase-1 mutation is associated with a rapidly progressive familial amyotrophic lateral sclerosis
    • Rosen DR, Bowling AC, Patterson D, Usdin TB, Sapp P, Mezey E, et al. A frequent ala 4 to val Superoxide dismutase-1 mutation is associated with a rapidly progressive familial amyotrophic lateral sclerosis. Hum Mol Genet 1994; 3: 981-7.
    • (1994) Hum Mol Genet , vol.3 , pp. 981-987
    • Rosen, D.R.1    Bowling, A.C.2    Patterson, D.3    Usdin, T.B.4    Sapp, P.5    Mezey, E.6
  • 77
    • 0029048169 scopus 로고
    • Identification of three novel mutations in the gene for Cu/Zn Superoxide dismutase in patients with familial amyotrophic lateral sclerosis
    • Sapp PC, Rosen DR, Hosler BA, Esteban J, McKenna-Yasek D, O'Regan JP, et al. Identification of three novel mutations in the gene for Cu/Zn Superoxide dismutase in patients with familial amyotrophic lateral sclerosis. Neuromuscul Disord 1995; 5: 353-7.
    • (1995) Neuromuscul Disord , vol.5 , pp. 353-357
    • Sapp, P.C.1    Rosen, D.R.2    Hosler, B.A.3    Esteban, J.4    McKenna-Yasek, D.5    O'Regan, J.P.6
  • 78
    • 0027193630 scopus 로고
    • The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions
    • Sheffield VC, Beck JS, Kwitek AE, Sandstrom DW, Stone EM. The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions. Genomics 1993; 16: 325-32.
    • (1993) Genomics , vol.16 , pp. 325-332
    • Sheffield, V.C.1    Beck, J.S.2    Kwitek, A.E.3    Sandstrom, D.W.4    Stone, E.M.5
  • 79
    • 0029927679 scopus 로고    scopus 로고
    • Intense Superoxide dismutase-1 immunoreactivity in intracytoplasmic hyaline inclusions of familial amyotrophic lateral sclerosis with posterior column involvement
    • Shibata N, Hirano A, Kobayashi M, Siddique T, Deng H-X, Hung W-Y, et al. Intense Superoxide dismutase-1 immunoreactivity in intracytoplasmic hyaline inclusions of familial amyotrophic lateral sclerosis with posterior column involvement. J Neuropathol Exp Neurol 1996; 55: 481-90.
    • (1996) J Neuropathol Exp Neurol , vol.55 , pp. 481-490
    • Shibata, N.1    Hirano, A.2    Kobayashi, M.3    Siddique, T.4    Deng, H.-X.5    Hung, W.-Y.6
  • 80
    • 0029808008 scopus 로고    scopus 로고
    • Molecular genetic basis of familial ALS
    • Siddique T, Nijhawan D, Hentati A. Molecular genetic basis of familial ALS. [Review]. Neurology 1996; 47 (4 Suppl 2): S27-35.
    • (1996) Neurology , vol.47 , Issue.4 SUPPL. 2
    • Siddique, T.1    Nijhawan, D.2    Hentati, A.3
  • 81
    • 0028598738 scopus 로고
    • 'Sporadic' motoneuron disease due to familial SOD1 mutation with low penetrance
    • Suthers G, Laing N, Wilton S, Dorosz S, Waddy H. 'Sporadic' motoneuron disease due to familial SOD1 mutation with low penetrance [letter]. Lancet 1994; 344: 1773.
    • (1994) Lancet , vol.344 , pp. 1773
    • Suthers, G.1    Laing, N.2    Wilton, S.3    Dorosz, S.4    Waddy, H.5
  • 82
    • 0023872487 scopus 로고
    • Preclinical and subclinical events in motor neuron disease
    • Swash M, Ingram D. Preclinical and subclinical events in motor neuron disease. J Neurol Neurosurg Psychiatry 1988; 51: 165-8.
    • (1988) J Neurol Neurosurg Psychiatry , vol.51 , pp. 165-168
    • Swash, M.1    Ingram, D.2
  • 83
    • 0020374498 scopus 로고
    • Determination and analysis of the 2 Å structure of copper, zinc Superoxide dismutase
    • Tainer JA, Getzoff ED, Beem KM, Richardson JS, Richardson DC. Determination and analysis of the 2 Å structure of copper, zinc Superoxide dismutase. J Mol Biol 1982; 160: 181-217.
    • (1982) J Mol Biol , vol.160 , pp. 181-217
    • Tainer, J.A.1    Getzoff, E.D.2    Beem, K.M.3    Richardson, J.S.4    Richardson, D.C.5
  • 84
    • 0028106044 scopus 로고
    • Familial amyotrophic lateral sclerosis with a mutation in the Cu/Zn Superoxide dismutase gene
    • Berl
    • Takahashi H, Makifuchi T, Nakano R, Sato S, Inuzuka T, Sakimura K, et al. Familial amyotrophic lateral sclerosis with a mutation in the Cu/Zn Superoxide dismutase gene. Acta Neuropathol (Berl) 1994; 88: 185-8.
    • (1994) Acta Neuropathol , vol.88 , pp. 185-188
    • Takahashi, H.1    Makifuchi, T.2    Nakano, R.3    Sato, S.4    Inuzuka, T.5    Sakimura, K.6
  • 85
    • 0027997236 scopus 로고
    • Analysis of the functional effects of a mutation in SOD1 associated with familial amyotrophic lateral sclerosis
    • Tsuda T, Munthasser S, Fraser PE, Percy ME, Rainero I, Vaula G, et al. Analysis of the functional effects of a mutation in SOD1 associated with familial amyotrophic lateral sclerosis. Neuron 1994; 13: 727-36.
    • (1994) Neuron , vol.13 , pp. 727-736
    • Tsuda, T.1    Munthasser, S.2    Fraser, P.E.3    Percy, M.E.4    Rainero, I.5    Vaula, G.6
  • 86
    • 16944364061 scopus 로고    scopus 로고
    • A novel missense point mutation (S134N) of the Cu/Zn Superoxide dismutase gene in a patient with familial motor neuron disease
    • Watanabe M, Aoki M, Abe K, Shoji M, Iizuka T, Ikeda Y, et al. A novel missense point mutation (S134N) of the Cu/Zn Superoxide dismutase gene in a patient with familial motor neuron disease. Hum Mutat 1997; 9: 69-71.
    • (1997) Hum Mutat , vol.9 , pp. 69-71
    • Watanabe, M.1    Aoki, M.2    Abe, K.3    Shoji, M.4    Iizuka, T.5    Ikeda, Y.6
  • 87
    • 0029053881 scopus 로고
    • An adverse property of a familial ALS-linked SOD1 mutation causes motor neuron disease characterized by vacuolar degeneration of mitochondria
    • Wong PC, Pardo CA, Borchelt DR, Lee MK, Copeland NG, Jenkins NA, et al. An adverse property of a familial ALS-linked SOD1 mutation causes motor neuron disease characterized by vacuolar degeneration of mitochondria. Neuron 1995; 14: 1105-16.
    • (1995) Neuron , vol.14 , pp. 1105-1116
    • Wong, P.C.1    Pardo, C.A.2    Borchelt, D.R.3    Lee, M.K.4    Copeland, N.G.5    Jenkins, N.A.6
  • 88
    • 0029036463 scopus 로고
    • An improved protocol for the analysis of SOD1 gene mutations, and a new mutation in exon 4
    • published erratum appears in Hum Mol Genet 1995; 4: 1474
    • Yulug IG, Katsanis N, de Belleroche J, Collinge J, Fisher EMC. An improved protocol for the analysis of SOD1 gene mutations, and a new mutation in exon 4 [published erratum appears in Hum Mol Genet 1995; 4: 1474]. Hum Mol Genet 1995; 4: 1101-4.
    • (1995) Hum Mol Genet , vol.4 , pp. 1101-1104
    • Yulug, I.G.1    Katsanis, N.2    De Belleroche, J.3    Collinge, J.4    Fisher, E.M.C.5


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