-
1
-
-
0022443737
-
Familial adult motor neuron disease: Amyotrophic lateral sclerosis
-
Mulder DW, Kurland LT, Offord KP and Beard CM. (1986) Familial adult motor neuron disease: Amyotrophic lateral sclerosis. Neurology 36: 511-517.
-
(1986)
Neurology
, vol.36
, pp. 511-517
-
-
Mulder, D.W.1
Kurland, L.T.2
Offord, K.P.3
Beard, C.M.4
-
2
-
-
0020392683
-
Familial motor neuron disease
-
Howland LP (ed.) Raven Press, New York
-
Emery AEH and Holloway S. (1982) Familial motor neuron disease. In: Howland LP (ed.) Human Motor Neuron Diseases. Raven Press, New York, pp. 139-147.
-
(1982)
Human Motor Neuron Diseases
, pp. 139-147
-
-
Emery, A.E.H.1
Holloway, S.2
-
3
-
-
0024334904
-
Linkage analysis in familial amyotrophic lateral sclerosis
-
Siddique T, Pericak-Vance MA, Brooks BR et al. (1989) Linkage analysis in familial amyotrophic lateral sclerosis. Neurology 39: 919-925.
-
(1989)
Neurology
, vol.39
, pp. 919-925
-
-
Siddique, T.1
Pericak-Vance, M.A.2
Brooks, B.R.3
-
4
-
-
0021809173
-
Amyolrophic lateral sclerosis: Part I. Clinical features, pathology and ethical issues in management
-
Dan R and Bradley WG. (1985) Amyolrophic lateral sclerosis: Part I. Clinical features, pathology and ethical issues in management. Ann. Neurol. 18: 271-280.
-
(1985)
Ann. Neurol.
, vol.18
, pp. 271-280
-
-
Dan, R.1
Bradley, W.G.2
-
6
-
-
0026655942
-
Intrafamilial heterogeneity in hereditary motor neuron disease
-
Applebaum JS, Roos RP, Salazar-Grueso EF et al. (1992) Intrafamilial heterogeneity in hereditary motor neuron disease. Neurology 42: 1488-1492.
-
(1992)
Neurology
, vol.42
, pp. 1488-1492
-
-
Applebaum, J.S.1
Roos, R.P.2
Salazar-Grueso, E.F.3
-
7
-
-
0027401203
-
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, Donaldson D, Goto J, OÕRegan JP, Deng HX, Rahmani Z, Krizus A, McKenna-Yasek D, Cayabyab A, Gaston S, Berger M, Tanzi RE, Halperin JJ, Herzfeldt B, Van den Bergh R, Hung WY, Bird T, Deng G, Mulder DW, Smyth C, Laing NG, Soriano E, Pericak-Vance MA, Haines J, Rouleau GA, Gusella JS, Horvitz HR and Brown RH, Jr. (1993) Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 362: 59-62.
-
(1993)
Nature
, vol.362
, pp. 59-62
-
-
Rosen, D.R.1
Siddique, T.2
Patterson, D.3
Figlewicz, D.A.4
Sapp, P.5
Hentati6
Donaldson, D.7
Goto, J.8
OÕregan, J.P.9
Deng, H.X.10
Rahmani, Z.11
Krizus, A.12
McKenna-Yasek, D.13
Cayabyab, A.14
Gaston, S.15
Berger, M.16
Tanzi, R.E.17
Halperin, J.J.18
Herzfeldt, B.19
Van Den Bergh, R.20
Hung, W.Y.21
Bird, T.22
Deng, G.23
Mulder, D.W.24
Smyth, C.25
Laing, N.G.26
Soriano, E.27
Pericak-Vance, M.A.28
Haines, J.29
Rouleau, G.A.30
Gusella, J.S.31
Horvitz, H.R.32
Brown Jr., R.H.33
more..
-
8
-
-
0027426169
-
Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase
-
Deng H., Hentati A, Tainer JA, Iqbal Z, Cayabyab A, Hung WY, Getzoff ED, Ping H, Herzfeldt B, Roos RP, Warner C, Deng G, Soriano E, Smyth C, Parge HE, Ahmed A, Roses AD, Hallewell RA, Pericak-Vance MA and Siddique T. (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.1
Hentati, A.2
Tainer, J.A.3
Iqbal, Z.4
Cayabyab, A.5
Hung, W.Y.6
Getzoff, E.D.7
Ping, H.8
Herzfeldt, B.9
Roos, R.P.10
Warner, C.11
Deng, G.12
Soriano, E.13
Smyth, C.14
Parge, H.E.15
Ahmed, A.16
Roses, A.D.17
Hallewell, R.A.18
Pericak-Vance, M.A.19
Siddique, T.20
more..
-
9
-
-
12044249765
-
Lineage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic locus heterogeneity
-
Siddique T, Figlewicz DA, Pericak-Vance MA, Haines JL, Rouleau G, Jeffers AJ, Sapp P, Hung WY, Bebout J, McKenna-Yasek D, Deng G, Horvitz HR, Gusella JF, Brown RH, Jr., Roses AD and Collaborators (1991) Lineage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic locus heterogeneity. N. Engl. J. Med. 324: 1381-1384.
-
(1991)
N. Engl. J. Med.
, vol.324
, pp. 1381-1384
-
-
Siddique, T.1
Figlewicz, D.A.2
Pericak-Vance, M.A.3
Haines, J.L.4
Rouleau, G.5
Jeffers, A.J.6
Sapp, P.7
Hung, W.Y.8
Bebout, J.9
McKenna-Yasek, D.10
Deng, G.11
Horvitz, H.R.12
Gusella, J.F.13
Brown Jr., R.H.14
Roses, A.D.15
-
10
-
-
0020374498
-
Determination and analysis of the 2 A-structure of copper, zinc superoxide dismutase
-
Tainer JA, Getzoff ED, Beem KM, Richardson JS and Richardson DC. (1982) Determination and analysis of the 2 A-structure of copper, zinc superoxide dismutase. J. Mol. Biol. 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
-
11
-
-
0024411652
-
Evolution of Cu/Zn superoxide dismutase and the β-barrel structural motif
-
Getzoff ED, Tainer JA, Stempien MM, Bell GI and Hallewell RA. (1989) Evolution of Cu/Zn superoxide dismutase and the β-barrel structural motif. Proteins 5: 322-336.
-
(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
-
12
-
-
0015501473
-
A direct demonstration of the catalytic action of superoxide dismutase through the use of pulse radiolysis
-
Klug D, Rabani J and Fridovich I. (1972) A direct demonstration of the catalytic action of superoxide dismutase through the use of pulse radiolysis. J. Biol. Chem. 247: 4839.
-
(1972)
J. Biol. Chem.
, vol.247
, pp. 4839
-
-
Klug, D.1
Rabani, J.2
Fridovich, I.3
-
13
-
-
0016414528
-
Superoxide dismutases
-
Fridovich I (1975) Superoxide dismutases. Annu. Rev. Biochem. 44: 147-159.
-
(1975)
Annu. Rev. Biochem.
, vol.44
, pp. 147-159
-
-
Fridovich, I.1
-
14
-
-
0025285382
-
Copper, zinc superoxide dismutase catalyzes hydroxyl radical production from hydrogen peroxide
-
Yim MB, Chock PB and Stadtman ER (1990) Copper, zinc superoxide dismutase catalyzes hydroxyl radical production from hydrogen peroxide. Proc. Natl Acad. Sci. USA 87: 5006-5010.
-
(1990)
Proc. Natl Acad. Sci. USA
, vol.87
, pp. 5006-5010
-
-
Yim, M.B.1
Chock, P.B.2
Stadtman, E.R.3
-
15
-
-
0027456505
-
Enzymatic function of Cu,Zn superoxide dismutase as a free radical generator
-
Yim MB, Chock P and Stadtman ER. (1993) Enzymatic function of Cu,Zn superoxide dismutase as a free radical generator. J.Biol.Chem. 268: 4099-4150.
-
(1993)
J.Biol.Chem.
, vol.268
, pp. 4099-4150
-
-
Yim, M.B.1
Chock, P.2
Stadtman, E.R.3
-
16
-
-
0015511160
-
Interaction of hydrogen peroxide with superoxide dismutase from erythrocyte
-
Symonyan MA and Nalbandyan RN (1972) Interaction of hydrogen peroxide with superoxide dismutase from erythrocyte. FEBS Lett. 28: 22-24.
-
(1972)
FEBS Lett.
, vol.28
, pp. 22-24
-
-
Symonyan, M.A.1
Nalbandyan, R.N.2
-
17
-
-
0029048169
-
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, Horvitz HR and Brown RH Jr. (1995) Identification of three novel mutations in the gene for Cu/Zn superoxide dismutase in patients with familial amyotrophic lateral sclerosis. Neuromuscular Dis. 5: 353-357.
-
(1995)
Neuromuscular Dis.
, 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
Horvitz, H.R.7
Brown Jr., R.H.8
-
18
-
-
0029003428
-
Two novel SOD1 mutations in patients with familial amyotrophic lateral sclerosis
-
Deng HX, Tainer JA, Mitsumoto H, Ohnishi A, He X, Hung WY, Zhao Y, Juneja T, Hentati A and Siddique T. (1995) Two novel SOD1 mutations in patients with familial amyotrophic lateral sclerosis. Hum. Mol. Genet. 4: 1113-1116.
-
(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
Zhao, Y.7
Juneja, T.8
Hentati, A.9
Siddique, T.10
-
19
-
-
0029066863
-
The D90A mutation results in a polymorphism of Cu,Zn superoxide dismutase that is prevalent in northern Sweden and Finland
-
Sjalander A, Beckman G, Deng HX et al. (1995) The D90A mutation results in a polymorphism of Cu,Zn superoxide dismutase that is prevalent in northern Sweden and Finland. Hum. Mol. Genet. 4: 1105-1108.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1105-1108
-
-
Sjalander, A.1
Beckman, G.2
Deng, H.X.3
-
20
-
-
0027359334
-
Superoxide dismutase activity, oxidative damage and mitochondrial energy metabolism in familial and sporadic amyotrophic lateral sclerosis
-
Bowling AC, Schulz JB, Brown RH, Jr. and Beal MF. (1993) Superoxide dismutase activity, oxidative damage and mitochondrial energy metabolism in familial and sporadic amyotrophic lateral sclerosis. J. Neurochem. 61: 2322-2325.
-
(1993)
J. Neurochem.
, vol.61
, pp. 2322-2325
-
-
Bowling, A.C.1
Schulz, J.B.2
Brown Jr., R.H.3
Beal, M.F.4
-
21
-
-
0027952571
-
Cu/Zn superoxide dismutase, activity in sporadic and familial amyotrophic lateral sclerosis
-
Robberecht W, Sapp P, Viaene, MK, Rosen D, McKenna-Yasek D, Haines J, Horvitz R, Theys P and Brown RH, Jr. (1994). Cu/Zn superoxide dismutase, activity in sporadic and familial amyotrophic lateral sclerosis. J. Neurochem. 62: 384-387.
-
(1994)
J. Neurochem.
, vol.62
, pp. 384-387
-
-
Robberecht, W.1
Sapp, P.2
Viaene, M.K.3
Rosen, D.4
McKenna-Yasek, D.5
Haines, J.6
Horvitz, R.7
Theys, P.8
Brown Jr., R.H.9
-
22
-
-
0029010496
-
Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in Cu/Zn-superoxide dismutase
-
Andersen PM, Nilsson P, Ala-Hurula V, Keranen ML, Tarvainen I, Haltia T, Nilsson L, Binzer M, Forsgren L and Marklund SL. (1995) Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in Cu/Zn-superoxide dismutase. Nature Genet. 10: 61-66.
-
(1995)
Nature Genet.
, vol.10
, pp. 61-66
-
-
Andersen, P.M.1
Nilsson, P.2
Ala-Hurula, V.3
Keranen, M.L.4
Tarvainen, I.5
Haltia, T.6
Nilsson, L.7
Binzer, M.8
Forsgren, L.9
Marklund, S.L.10
-
23
-
-
0027965073
-
Superoxide dismutase 1 with mutations linked to familial amyotrophic lateral sclerosis possesses significant activity
-
Borchelt DR, Lee MK, Slunt HS et al. (1994) Superoxide dismutase 1 with mutations linked to familial amyotrophic lateral sclerosis possesses significant activity. Proc. Natl Acad. Sci. USA 91: 8292-8296.
-
(1994)
Proc. Natl Acad. Sci. USA
, vol.91
, pp. 8292-8296
-
-
Borchelt, D.R.1
Lee, M.K.2
Slunt, H.S.3
-
24
-
-
0028813380
-
Superoxide dismutase 1 subunits with mutations linked to familial amyotrophic lateral sclerosis do not affect wild type subunit function
-
Borchelt DR, Guarnieri M, Wong PC et al. (1995) Superoxide dismutase 1 subunits with mutations linked to familial amyotrophic lateral sclerosis do not affect wild type subunit function. J. Biol. Chem. 270: 3234-3242.
-
(1995)
J. Biol. Chem.
, vol.270
, pp. 3234-3242
-
-
Borchelt, D.R.1
Guarnieri, M.2
Wong, P.C.3
-
25
-
-
0028915976
-
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 and Borchelt DR et al. (1995) 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 92: 3024-302.
-
(1995)
Proc. Natl Acad. Sci. USA
, vol.92
, pp. 3024-3302
-
-
Rabizadeh, S.1
Gralla, E.B.2
Borchelt, D.R.3
-
26
-
-
0029050058
-
Subunit-destabilizing mutations in Drosophila copper/zinc superoxide dismutase: Neuropathology and a model of dimer disequilibrium
-
Phillips JP, Tainer JA, Getzoff ED et al. (1995) Subunit-destabilizing mutations in Drosophila copper/zinc superoxide dismutase: Neuropathology and a model of dimer disequilibrium. Proc. Natl Acad. Sci. USA 92: 8574-8578.
-
(1995)
Proc. Natl Acad. Sci. USA
, vol.92
, pp. 8574-8578
-
-
Phillips, J.P.1
Tainer, J.A.2
Getzoff, E.D.3
-
27
-
-
0029005002
-
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 et al. (1995) Variance of age at onset in a Japanese family with amyotrophic lateral sclerosis associated with a novel Cu/Zn superoxide dismutase mutation. Ann. Neurol. 37: 676-679.
-
(1995)
Ann. Neurol.
, vol.37
, pp. 676-679
-
-
Aoki, M.1
Abe, K.2
Houi, K.3
-
28
-
-
9544235102
-
Prognosis in familial ALS: Progression and survival in patients with E100G and A4V mutations in Cu,Zn superoxide dismutase
-
in press
-
Juneja T, Pericak-Vance M, Laing NG, Dave S and Siddique T. (1996) Prognosis in familial ALS: progression and survival in patients with E100G and A4V mutations in Cu,Zn superoxide dismutase. Neurology (in press).
-
(1996)
Neurology
-
-
Juneja, T.1
Pericak-Vance, M.2
Laing, N.G.3
Dave, S.4
Siddique, T.5
-
29
-
-
0015745726
-
A rare homozygous phenotype of superoxide dismutase, SOD 2
-
Beckman G, Beckman L and Nilsson L-O. (1973) A rare homozygous phenotype of superoxide dismutase, SOD 2. Hereditas 75, 138-139.
-
(1973)
Hereditas
, vol.75
, pp. 138-139
-
-
Beckman, G.1
Beckman, L.2
Nilsson, L.-O.3
-
30
-
-
0028334717
-
Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35
-
Hentati A, Bejaoui K, Pericak-Vance MA et al. (1994) Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35. Nature Genet. 7: 425-428.
-
(1994)
Nature Genet.
, vol.7
, pp. 425-428
-
-
Hentati, A.1
Bejaoui, K.2
Pericak-Vance, M.A.3
-
31
-
-
0025237394
-
Hereditary motor system diseases (chronic juvenile amyotrophic lateral sclerosis). Conditions combing a bilateral pyramidal syndrome with limb and bulbar amyotrophy
-
Ben Hamida M, Hentati F and Ben Hamida C. (1990) Hereditary motor system diseases (chronic juvenile amyotrophic lateral sclerosis). Conditions combing a bilateral pyramidal syndrome with limb and bulbar amyotrophy. Brain 113: 347-363.
-
(1990)
Brain
, vol.113
, pp. 347-363
-
-
Ben Hamida, M.1
Hentati, F.2
Ben Hamida, C.3
-
32
-
-
0028073692
-
Localization of disinhibition-dementia-parkinsonism-amyotrophy complex to 17q21-22
-
Wilhelmsen KC, Lynch T, Pavlou E et al. (1994) Localization of disinhibition-dementia-parkinsonism-amyotrophy complex to 17q21-22. Am. J. Hum. Genet. 55: 1159-1165.
-
(1994)
Am. J. Hum. Genet.
, vol.55
, pp. 1159-1165
-
-
Wilhelmsen, K.C.1
Lynch, T.2
Pavlou, E.3
-
33
-
-
0028284779
-
Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation
-
Gurney ME., Pu H, Chiu AY, Dal Canto MC, Polchow CY, Alexander DD, Caliendo J, Hentati A, Kwon YW, Deng HX, Chen W, Zhai P, Sufit RL and Siddique T. (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
Dal Canto, M.C.4
Polchow, C.Y.5
Alexander, D.D.6
Caliendo, J.7
Hentati, A.8
Kwon, Y.W.9
Deng, H.X.10
Chen, W.11
Zhai, P.12
Sufit, R.L.13
Siddique, T.14
-
34
-
-
0028888945
-
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 and Gordon JW. (1995) Transgenic mice expressing an altered murine superoxide dismutase gene provide an animal model of amyotrophic lateral sclerosis. Proc. Natl Acad. Sci. USA 92: 689-693.
-
(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
-
35
-
-
0029053881
-
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 et al. (1995) An adverse property of a familial ALS-linked SOD1 mutation causes motor neuron disease characterized by vacuolar degeneration of mitochondria. Neuron 14: 1105-1116.
-
(1995)
Neuron
, vol.14
, pp. 1105-1116
-
-
Wong, P.C.1
Pardo, C.A.2
Borchelt, D.R.3
-
36
-
-
0028670876
-
Mutant mice, Cu,Zn superoxide dismutase and motor neuron degeneration
-
McCord JM (1994) Mutant mice, Cu,Zn superoxide dismutase and motor neuron degeneration. Science 266: 1586-1587.
-
(1994)
Science
, vol.266
, pp. 1586-1587
-
-
McCord, J.M.1
-
37
-
-
0028933344
-
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 lateral sclerosis(FALS)
-
Dal Canto MC and Gurney ME (1995) 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 lateral sclerosis(FALS). Brain Res. 676: 25-40.
-
(1995)
Brain Res.
, vol.676
, pp. 25-40
-
-
Dal Canto, M.C.1
Gurney, M.E.2
-
38
-
-
0027946294
-
The development of central nervous system pathology in a murine transgenic model of human amyotrophic lateral sclerosis
-
Dal Canto MC and Gurney ME (1994) The development of central nervous system pathology in a murine transgenic model of human amyotrophic lateral sclerosis. Am. J. Pathol. 145: 1271-1279.
-
(1994)
Am. J. Pathol.
, vol.145
, pp. 1271-1279
-
-
Dal Canto, M.C.1
Gurney, M.E.2
-
39
-
-
0023444192
-
Transgenic mice with increased Cu/Zn-superoxide dismutase activity: Animal model of dosage effects in Down syndrome
-
Epstein CJ, Avraham KB, Lovett M, Smith S, Elroy-Stein O, Rotman G, Bry C and Groner Y. (1987) Transgenic mice with increased Cu/Zn-superoxide dismutase activity: animal model of dosage effects in Down syndrome. Proc. Natl Acad. Sci. USA 84: 8044-8048.
-
(1987)
Proc. Natl Acad. Sci. USA
, vol.84
, pp. 8044-8048
-
-
Epstein, C.J.1
Avraham, K.B.2
Lovett, M.3
Smith, S.4
Elroy-Stein, O.5
Rotman, G.6
Bry, C.7
Groner, Y.8
-
40
-
-
15844393658
-
Motor neurons in Cu/Zn superoxide dismutase-deficient mice develop normally but exhibit enhanced cell death after axonal injury
-
Reaume AG, Elliott JL, Hoffman EK, Kowall NW, Ferrante RJ, Siwek DF, Wilcox HM, Flood DG, Beal MF, Brown RH Jr, Scott RW and Snider WD. (1996) Motor neurons in Cu/Zn superoxide dismutase-deficient mice develop normally but exhibit enhanced cell death after axonal injury. Nature Genet. 13: 43-47.
-
(1996)
Nature Genet.
, vol.13
, pp. 43-47
-
-
Reaume, A.G.1
Elliott, J.L.2
Hoffman, E.K.3
Kowall, N.W.4
Ferrante, R.J.5
Siwek, D.F.6
Wilcox, H.M.7
Flood, D.G.8
Beal, M.F.9
Brown Jr., R.H.10
Scott, R.W.11
Snider, W.D.12
-
41
-
-
0029671220
-
Altered reactivity of superoxide dismutase in familial amyotrophic lateral sclerosis
-
Wiedau-Pazos M, Goto JJ, Rabizadeh S, Gralla EB, Roe JA and Lee MK. (1996) Altered reactivity of superoxide dismutase in familial amyotrophic lateral sclerosis. Science 271: 515-518
-
(1996)
Science
, vol.271
, pp. 515-518
-
-
Wiedau-Pazos, M.1
Goto, J.J.2
Rabizadeh, S.3
Gralla, E.B.4
Roe, J.A.5
Lee, M.K.6
-
42
-
-
0030050727
-
Benefit of vitamin e rigole and gabapentin in a transgenic model of familial amyotrophic lateral sclerosis
-
Gurney ME, Cutting FB, Zhai P, Doble A, Taylor CP, Andrus PK and Hall ED. (1996) Benefit of vitamin E rigole and gabapentin in a transgenic model of familial amyotrophic lateral sclerosis. Ann. Neurol. 39: 147-157.
-
(1996)
Ann. Neurol.
, vol.39
, pp. 147-157
-
-
Gurney, M.E.1
Cutting, F.B.2
Zhai, P.3
Doble, A.4
Taylor, C.P.5
Andrus, P.K.6
Hall, E.D.7
-
43
-
-
0029927679
-
Intense SOD1 immunoreactivity in intracytoplasmic hyaline inclusion of familial ALS with posterior column involvement
-
Shibata N, Hirano A, Kobayashi M, Siddique T, Kato T and Asayama K. (1996) Intense SOD1 immunoreactivity in intracytoplasmic hyaline inclusion of familial ALS with posterior column involvement. J. Neuropathol. Exp. Neurol. 55: 481-490.
-
(1996)
J. Neuropathol. Exp. Neurol.
, vol.55
, pp. 481-490
-
-
Shibata, N.1
Hirano, A.2
Kobayashi, M.3
Siddique, T.4
Kato, T.5
Asayama, K.6
-
44
-
-
0027293275
-
ALS, SOD and peroxynitrite
-
Beckman JS, Carson M, Smith CD and Koppenol WH. (1993) ALS, SOD and peroxynitrite. Nature 364: 584.
-
(1993)
Nature
, vol.364
, pp. 584
-
-
Beckman, J.S.1
Carson, M.2
Smith, C.D.3
Koppenol, W.H.4
-
45
-
-
0023905988
-
Zinc alters excitatory amino acid neurotoxicity on cortical neurons
-
Koh JY and Choi DW. (1988) Zinc alters excitatory amino acid neurotoxicity on cortical neurons. J. Neurosci. 8: 2164-2171.
-
(1988)
J. Neurosci.
, vol.8
, pp. 2164-2171
-
-
Koh, J.Y.1
Choi, D.W.2
-
46
-
-
0010415251
-
The neurotoxicity of copper
-
Bondy SC and Prasad KN, eds, Boca Raton, Florida: CRC Press
-
Scheinberg H. (1988) The neurotoxicity of copper. In: Metal Neurotoxicity (Bondy SC and Prasad KN, eds), pp.55-60. Boca Raton, Florida: CRC Press.
-
(1988)
Metal Neurotoxicity
, pp. 55-60
-
-
Scheinberg, H.1
-
47
-
-
0029400840
-
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 and Itoyama Y. (1995) 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)
Neurology
, vol.45
, pp. 2038-2042
-
-
Ikeda, M.1
Abe, K.2
Aoki, M.3
Sahara, M.4
Watanabe, M.5
Shoji, M.6
St George-Hyslop, P.H.7
Hirai, S.8
Itoyama, Y.9
-
48
-
-
0028956222
-
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, Shoji M, Hirai S and Itoyama Y. (1995) A novel point mutation in the Cu/Zn superoxide dismutase gene in a patient with familial amyotrophic lateral sclerosis. Hum. Mol. Genet. 4: 491-492.
-
(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
Shoji, M.7
Hirai, S.8
Itoyama, Y.9
-
49
-
-
0029005002
-
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 and Itoyama Y. (1995) Variance of age at onset in a Japanese family with amyotrophic lateral sclerosis associated with a novel Cu/Zn superoxide dismutase mutation. Ann. Neurol. 37: 676-679.
-
(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
Mochio, S.7
Narisawa, K.8
Itoyama, Y.9
-
50
-
-
0028601342
-
Autosomal dominant amyotrophic lateral sclerosis: A novel mutation in the Cu/Zn superoxide dismutase-1 gene
-
Kostrzewa M, Burck-Lehmann U and Muller U. (1994) Autosomal dominant amyotrophic lateral sclerosis: a novel mutation in the Cu/Zn superoxide dismutase-1 gene. Hum. Mol. Genet. 3: 2261-2262.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 2261-2262
-
-
Kostrzewa, M.1
Burck-Lehmann, U.2
Muller, U.3
-
51
-
-
0027944708
-
Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient
-
Jones CT, Shaw PJ, Chari G and Brock DJ. (1994) Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient. Mol. Cell. Probes 8: 329-330.
-
(1994)
Mol. Cell. Probes
, vol.8
, pp. 329-330
-
-
Jones, C.T.1
Shaw, P.J.2
Chari, G.3
Brock, D.J.4
-
52
-
-
0028106044
-
Familial amyotrophic lateral sclerosis with a mutation in the Cu/Zn superoxide dismutase gene
-
Takahashi H, Makifuchi T, Nakano R, Sato S, Inuzuka T, Sakimura K, Mishina M, Honma Y, Tsuji S and Ikuta F. (1994) Familial amyotrophic lateral sclerosis with a mutation in the Cu/Zn superoxide dismutase gene. Acta Neuropathol. 88: 185-188.
-
(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
Mishina, M.7
Honma, Y.8
Tsuji, S.9
Ikuta, F.10
-
53
-
-
0028132231
-
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 M, Okamoto K, Araki H, Taniguchi N and Ueno S. (1994) 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. 204: 572-577.
-
(1994)
Biochem. Biophys. Res. Commun.
, vol.204
, pp. 572-577
-
-
Hirano, M.1
Fujii, J.2
Nagai, Y.3
Sonobe, M.4
Okamoto, K.5
Araki, H.6
Taniguchi, N.7
Ueno, S.8
-
54
-
-
0028771134
-
KLeu106→Val (CTC→GTC) mutation of superoxide dismutase-1 gene in patient with familial amyotrophic lateral sclerosis in Japan
-
L106V
-
Kawamata J, Hasegawa H, Shimohama S, Kimura J, Tanaka S and Ueda (1994) KLeu106→Val (CTC→GTC) mutation of superoxide dismutase-1 gene in patient with familial amyotrophic lateral sclerosis in Japan. Lancet 343: 1501(L106V).
-
(1994)
Lancet
, vol.343
, pp. 1501
-
-
Kawamata, J.1
Hasegawa, H.2
Shimohama, S.3
Kimura, J.4
Tanaka, S.5
Ueda6
-
55
-
-
0028123297
-
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 WG and Connor JM. (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
Connor, J.M.3
-
56
-
-
0028204413
-
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, Ikuta F, Honma Y, Fujii J, Taniguchi N et al. (1994) A novel mutation in Cu/Zn superoxide dismutase gene in Japanese familial amyotrophic lateral sclerosis. Biochem. Biophys. Res. Commun. 200: 695-703.
-
(1994)
Biochem. 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
Ikuta, F.7
Honma, Y.8
Fujii, J.9
Taniguchi, N.10
-
58
-
-
0347033767
-
Deletion and point mutations in superoxide dismutase-1 gene in amyotrophic lateral sclerosis
-
Tokyo, Japan (abstract)
-
Kawanata J, Shimohama S, Hasegawa H et al. (1995) Deletion and point mutations in superoxide dismutase-1 gene in amyotrophic lateral sclerosis. Eleventh TMIN International Symposium, Tokyo, Japan (abstract).
-
(1995)
Eleventh TMIN International Symposium
-
-
Kawanata, J.1
Shimohama, S.2
Hasegawa, H.3
-
59
-
-
0028273306
-
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 and Brock DJ. (1994) 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. 3: 649-650.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 649-650
-
-
Jones, C.T.1
Swingler, R.J.2
Brock, D.J.3
-
60
-
-
0347664546
-
A previously undescribed mutation in the SODI gene in a French family with atypical ALS
-
Dublin, Ireland (abstract)
-
Moulard B, Camu W, Brice A et al. (1995) A previously undescribed mutation in the SODI gene in a French family with atypical ALS. 6th International Symposium on ALS/MND. Dublin, Ireland (abstract).
-
(1995)
6th International Symposium on ALS/MND
-
-
Moulard, B.1
Camu, W.2
Brice, A.3
-
61
-
-
0027452090
-
Mild ALS in Japan associated with novel SOD mutation
-
Aoki M, Ogasawara M, Matsubara Y, Narisawa K, Nakamura S, Itoyama Y and Abe K. (1993) Mild ALS in Japan associated with novel SOD mutation. Nature Genet. 5: 323-324.
-
(1993)
Nature Genet.
, vol.5
, pp. 323-324
-
-
Aoki, M.1
Ogasawara, M.2
Matsubara, Y.3
Narisawa, K.4
Nakamura, S.5
Itoyama, Y.6
Abe, K.7
-
62
-
-
0346693234
-
Functional and structural correlates of 12 superoxide dismutase-1 mutations in UK families with amyotrophic lateral sclerosis
-
Dublin, Ireland (abstract)
-
De Belleroche J, Orrell R, Marklund S et al. (1995) Functional and structural correlates of 12 superoxide dismutase-1 mutations in UK families with amyotrophic lateral sclerosis. 6th International Symposium of ALS/MND. Dublin, Ireland (abstract).
-
(1995)
6th International Symposium of ALS/MND
-
-
De Belleroche, J.1
Orrell, R.2
Marklund, S.3
-
63
-
-
0028244477
-
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, Beal MF, Horvitz HR and Brown RH, Jr. (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
Sapp, P.4
McKenna-Yasek, D.5
O'Regan, J.P.6
Beal, M.F.7
Horvitz, H.R.8
Brown Jr., R.H.9
-
64
-
-
0028601342
-
Autosomal dominant amyotrophic lateral sclerosis: A novel mutation in the Cu/Zn superoxide dismutase-1 gene
-
Kostrzewa M, Burck-Lehmann U and Muller U. (1994) Autosomal dominant amyotrophic lateral sclerosis: a novel mutation in the Cu/Zn superoxide dismutase-1 gene. Hum. Mol. Genet. 3: 2261-2262.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 2261-2262
-
-
Kostrzewa, M.1
Burck-Lehmann, U.2
Muller, U.3
-
65
-
-
0028918944
-
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, Dib M, Meininger V, Brown RH and Rouleau GA. (1995) Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis. Am. J. Hum. Genet. 56: 592-596.
-
(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
Dib, M.7
Meininger, V.8
Brown, R.H.9
Rouleau, G.A.10
-
66
-
-
0029020394
-
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 and Takahashi K. (1995) Abnormality of Cu/Zn superoxide dismutase (SOD1) activity in Japanese familial amyotrophic lateral sclerosis with two base pair deletion in the SOD1 gene. Neurology 45: 1019-1020.
-
(1995)
Neurology
, vol.45
, pp. 1019-1020
-
-
Nakashima, K.1
Watanabe, Y.2
Kuno, N.3
Nanba, E.4
Takahashi, K.5
-
67
-
-
0029036463
-
An improved protocol for the analysis of SOD1 gene mutations and a new mutation in exon 4
-
Yulug IG, Katsanis N, de Belleroche J, Collinge J and Fisher EM. (1995) An improved protocol for the analysis of SOD1 gene mutations and a new mutation in exon 4. Hum. Mol. Genet. 4: 1101-1114.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1101-1114
-
-
Yulug, I.G.1
Katsanis, N.2
De Belleroche, J.3
Collinge, J.4
Fisher, E.M.5
-
68
-
-
0347033766
-
A survey of Cu/Zn superoxide dismutase mutations in 70 UK families with familial amyotrophic lateral sclerosis: Clinical correlations
-
Heidelberg, Germany (abstract)
-
De Belleroche J, Orrell RW, Habgood J, Gardiner and Greenwood J. (1996) A survey of Cu/Zn superoxide dismutase mutations in 70 UK families with familial amyotrophic lateral sclerosis: clinical correlations. HUGO'S Human Genome Meeting. Heidelberg, Germany (abstract).
-
(1996)
HUGO'S Human Genome Meeting
-
-
De Belleroche, J.1
Orrell, R.W.2
Habgood, J.3
Gardiner4
Greenwood, J.5
|