-
1
-
-
7844227669
-
Recessive amyotrophic lateral sclerosis families with the D90A SODI mutation share a common founder: Evidence for a linked protective factor
-
Al Chalabi, A., Andersen, P. M., Chioza, B., Shaw, C., Sham, P. C., Robberecht, W., Matthijs, G., Camu, W., Marklund, S. L., Forsgren, L., Rouleau, G., Laing, N. G., Hurse, P. V., Siddique, T., Leigh, P. N., & Powell, J. F. (1998) Recessive amyotrophic lateral sclerosis families with the D90A SODI mutation share a common founder: Evidence for a linked protective factor. Hum. Mol. Genet. 7, 2045-2050.
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 2045-2050
-
-
Al Chalabi, A.1
Andersen, P.M.2
Chioza, B.3
Shaw, C.4
Sham, P.C.5
Robberecht, W.6
Matthijs, G.7
Camu, W.8
Marklund, S.L.9
Forsgren, L.10
Rouleau, G.11
Laing, N.G.12
Hurse, P.V.13
Siddique, T.14
Leigh, P.N.15
Powell, J.F.16
-
2
-
-
9544236295
-
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, P. M., Forsgren, L., Binzer, M., Nilsson, P., Ala-Hurula, V., Keranen, M. L., Bergmark, L., Saarinen, A., Haltia, T., Tarvainen, I., Kinnunen, E., Udd, B., & Marklund, S. L. (1996) 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 119, 1153-1172.
-
(1996)
Brain
, vol.119
, pp. 1153-1172
-
-
Andersen, P.M.1
Forsgren, L.2
Binzer, M.3
Nilsson, P.4
Ala-Hurula, V.5
Keranen, M.L.6
Bergmark, L.7
Saarinen, A.8
Haltia, T.9
Tarvainen, I.10
Kinnunen, E.11
Udd, B.12
Marklund, S.L.13
-
3
-
-
0001477869
-
Genetics of amyotrophic lateral sclerosis: An overview
-
R. H. Brown Jr, V. Meininger, and M. Swash, Eds. Martin Dunitz, London
-
Andersen, P. M., Morita, M., & Brown, Jr, R. H. (1999) Genetics of amyotrophic lateral sclerosis: an overview. In: Amyotrophic Lateral Sclerosis (R. H. Brown Jr, V. Meininger, and M. Swash, Eds.) pp. 223-250. Martin Dunitz, London.
-
(1999)
Amyotrophic Lateral Sclerosis
, pp. 223-250
-
-
Andersen, P.M.1
Morita, M.2
Brown R.H., Jr.3
-
4
-
-
0029010496
-
Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase
-
Andersen, P. M., Nilsson, P., Ala-Hurula, V., Keranen, M. L., Tarvainen, I., Haltia, T., Nilsson, L., Binzer, M., Forsgren, L., & Marklund, S. L. (1995) Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase. Nat. Genet. 10, 61-66.
-
(1995)
Nat. 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
-
5
-
-
0031914158
-
CuZn-superoxide dismutase, extracellular superoxide dismutase, and glutathione peroxidase in blood from individuals homozygous for Asp90Ala CuZu-superoxide dismutase mutation
-
Andersen, P. M., Nilsson, P., Forsgren, L., & Marklund, S. L. (1998) CuZn-superoxide dismutase, extracellular superoxide dismutase, and glutathione peroxidase in blood from individuals homozygous for Asp90Ala CuZu-superoxide dismutase mutation. J. Neurochem. 70, 715-720.
-
(1998)
J. Neurochem.
, vol.70
, pp. 715-720
-
-
Andersen, P.M.1
Nilsson, P.2
Forsgren, L.3
Marklund, S.L.4
-
6
-
-
0030749160
-
Phenotypic heterogeneity in motor neuron disease patients with CuZn-superoxide dismutase mutations in Scandinavia
-
Andersen, P. M., Nilsson, P., Keranen, M. L., Forsgren, L., Hagglund, J., Karlsborg, M., Ronnevi, L. O., Gredal, O., & Marklund, S. L. (1997) Phenotypic heterogeneity in motor neuron disease patients with CuZn-superoxide dismutase mutations in Scandinavia. Brain 120, 1723-1737.
-
(1997)
Brain
, vol.120
, pp. 1723-1737
-
-
Andersen, P.M.1
Nilsson, P.2
Keranen, M.L.3
Forsgren, L.4
Hagglund, J.5
Karlsborg, M.6
Ronnevi, L.O.7
Gredal, O.8
Marklund, S.L.9
-
7
-
-
0034789657
-
The geographical and ethnic distribution of the D90A CuZn-SOD mutation in the Russian Federation
-
Andersen, P. M., Spitsyn, V. A., Makarov, S. V., Nilsson, L., Krav-chuk, O. I., Bychovskaya, L. S., & Marklund, S. L. The geographical and ethnic distribution of the D90A CuZn-SOD mutation in the Russian Federation. Amyotroph. Lateral Scler. Other Motor Neuron Disord. 2, 63-69. 2001.
-
(2001)
Amyotroph. Lateral Scler. Other Motor Neuron Disord.
, vol.2
, pp. 63-69
-
-
Andersen, P.M.1
Spitsyn, V.A.2
Makarov, S.V.3
Nilsson, L.4
Kravchuk, O.I.5
Bychovskaya, L.S.6
Marklund, S.L.7
-
8
-
-
0015153416
-
Superoxide dismutase: Improved assays and an assay applicable to acrylamide gels
-
Beauchamp, C. & Fridovich, I. (1971) Superoxide dismutase: improved assays and an assay applicable to acrylamide gels. Anal. Biochem. 44, 276-287.
-
(1971)
Anal. Biochem.
, vol.44
, pp. 276-287
-
-
Beauchamp, C.1
Fridovich, I.2
-
9
-
-
0015849518
-
Population studies in northern Sweden. VI. Polymorphism of superoxide dismutase
-
Beckman, G. (1973) Population studies in northern Sweden. VI. Polymorphism of superoxide dismutase. Hereditas 73, 305-310.
-
(1973)
Hereditas
, vol.73
, pp. 305-310
-
-
Beckman, G.1
-
10
-
-
0032126386
-
Axonal transport of mutant superoxide dismutase 1 and focal axonal abnormalities in the proximal axons of transgenic mice
-
Borchelt, D. R., Wong, P. C., Becher, M. W., Pardo, C. A., Lee, M. K., Xu, Z. S., Thinakaran, G., Jenkins, N. A., Copeland, N. G., Sisodia, S. S., Cleveland, D. W., Price, D. L., & Hoffman, P. N. (1998) Axonal transport of mutant superoxide dismutase 1 and focal axonal abnormalities in the proximal axons of transgenic mice. Neurobiol. Dis. 5, 27-35.
-
(1998)
Neurobiol. Dis.
, vol.5
, pp. 27-35
-
-
Borchelt, D.R.1
Wong, P.C.2
Becher, M.W.3
Pardo, C.A.4
Lee, M.K.5
Xu, Z.S.6
Thinakaran, G.7
Jenkins, N.A.8
Copeland, N.G.9
Sisodia, S.S.10
Cleveland, D.W.11
Price, D.L.12
Hoffman, P.N.13
-
11
-
-
0027359334
-
Superoxide dismutase activity, oxidative damage, and mitochondrial energy metabolism in familial and sporadic amyotrophic lateral sclerosis
-
Bowling, A. C., Schulz, J. B., Brown Jr, R. H., & Beal, M. F. (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 R.H., Jr.3
Beal, M.F.4
-
12
-
-
0028284779
-
Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation
-
Gurney, M. E., Pu, H., Chiu, A. Y., Dal Canto, M. C., Polchow, C. Y., Alexander, D. D., Caliendo, J., Hentati, A., Kwon, Y. W., Deng, H. X., Chen, W., Zhai, P., Sufit, R. L., & 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
-
13
-
-
0015953398
-
The incidence of rare alleles determining electrophoretic variants: Data on 43 enzyme loci in man
-
Harris, H., Hopkinson, D. A., & Robson, E. B. (1974) The incidence of rare alleles determining electrophoretic variants: data on 43 enzyme loci in man. Ann. Hum. Genet. 37, 237-253.
-
(1974)
Ann. Hum. Genet.
, vol.37
, pp. 237-253
-
-
Harris, H.1
Hopkinson, D.A.2
Robson, E.B.3
-
14
-
-
0029037348
-
Natural history of amyotrophic lateral sclerosis in a database population: Validation of a scoring system and a model for survival prediction
-
Haverkamp, L. J., Appel, V., & Appel, S. H. (1995) Natural history of amyotrophic lateral sclerosis in a database population: Validation of a scoring system and a model for survival prediction. Brain 118, 707-719.
-
(1995)
Brain
, vol.118
, pp. 707-719
-
-
Haverkamp, L.J.1
Appel, V.2
Appel, S.H.3
-
15
-
-
0031960868
-
Homozygosity for Asn86Ser mutation in the CuZn-superoxide dismutase gene produces a severe clinical phenotype in a juvenile onset case of familial amyotrophic lateral sclerosis
-
Hayward, C., Brock, D. J., Minns, R. A., & Swingler, R. J. (1998) Homozygosity for Asn86Ser mutation in the CuZn-superoxide dismutase gene produces a severe clinical phenotype in a juvenile onset case of familial amyotrophic lateral sclerosis. J. Med. Genet. 35, 174.
-
(1998)
J. Med. Genet.
, vol.35
, pp. 174
-
-
Hayward, C.1
Brock, D.J.2
Minns, R.A.3
Swingler, R.J.4
-
16
-
-
0030780350
-
Copper/zinc superoxide dismutase 1 and sporadic amyotrophic lateral sclerosis: Analysis of 155 cases and identification of novel insertion mutation
-
Jackson, M., Al-Chalabi, A., Enayat, Z. E., Chioza, B., Leigh, P. N., & Morrison, K. E. (1997) Copper/zinc superoxide dismutase 1 and sporadic amyotrophic lateral sclerosis: Analysis of 155 cases and identification of novel insertion mutation. Ann. Neurol. 42, 803-807.
-
(1997)
Ann. Neurol.
, vol.42
, pp. 803-807
-
-
Jackson, M.1
Al-Chalabi, A.2
Enayat, Z.E.3
Chioza, B.4
Leigh, P.N.5
Morrison, K.E.6
-
17
-
-
0034463339
-
Coexistence of dominant and recessive familial amyotrophic lateral sclerosis with the D90A Cu,Zn superoxide dismutase mutation
-
Khoris, J., Moulard, B., Briolotti, V., Hayer, M., Durieux, A., Cavelou, P. Malafosse, A., Rouleau, G. A., & Camu, W. (2000) Coexistence of dominant and recessive familial amyotrophic lateral sclerosis with the D90A Cu,Zn superoxide dismutase mutation. Eur. J. Neurol. 7, 207-211.
-
(2000)
Eur. J. Neurol.
, vol.7
, pp. 207-211
-
-
Khoris, J.1
Moulard, B.2
Briolotti, V.3
Hayer, M.4
Durieux, A.5
Cavelou, P.6
Malafosse, A.7
Rouleau, G.A.8
Camu, W.9
-
18
-
-
0030792832
-
On intra-familial clinical diversities of a familial amyotrophic lateral sclerosis with a point mutation of Cu/Zn superoxide dismutase (Asn 86-Ser)
-
Maeda, T., Kurahashi, K., Matsunaga, M., Inoue, K., & Inoue, M. (1997) On intra-familial clinical diversities of a familial amyotrophic lateral sclerosis with a point mutation of Cu/Zn superoxide dismutase (Asn 86-Ser). No To Shinkei 49, 847-851.
-
(1997)
No To Shinkei
, vol.49
, pp. 847-851
-
-
Maeda, T.1
Kurahashi, K.2
Matsunaga, M.3
Inoue, K.4
Inoue, M.5
-
19
-
-
0017089936
-
Spectrophotometric study of spontaneous disproportionation of superoxide anion radical and sensitive direct assay for superoxide dismutase
-
Marklund, S. (1976) Spectrophotometric study of spontaneous disproportionation of superoxide anion radical and sensitive direct assay for superoxide dismutase. J. Biol. Chem. 251, 7504-7507.
-
(1976)
J. Biol. Chem.
, vol.251
, pp. 7504-7507
-
-
Marklund, S.1
-
20
-
-
0030749689
-
Normal binding and reactivity of copper in mutant superoxide dismutase isolated from amyotrophic lateral sclerosis patients
-
Marklund, S. L., Andersen, P. M., Forsgren, L., Nilsson, P., Ohlsson, P. I., Wikander, G., & Oberg, A. (1997) Normal binding and reactivity of copper in mutant superoxide dismutase isolated from amyotrophic lateral sclerosis patients. J. Neurochem. 69, 675-681.
-
(1997)
J. Neurochem.
, vol.69
, pp. 675-681
-
-
Marklund, S.L.1
Andersen, P.M.2
Forsgren, L.3
Nilsson, P.4
Ohlsson, P.I.5
Wikander, G.6
Oberg, A.7
-
21
-
-
15844393658
-
Motor neurons in Cu/Zn superoxide dismutase-deficient mice develop normally but exhibit enhanced cell death after axonal injury
-
Reaume, A. G., Elliott, J. L., Hoffman, E. K., Kowall, N. W., Ferrante, R. J., Siwek, D. F., Wilcox, H. M., Flood, D. G., Beal, M. F., Brown, R. H., Jr., Scott, R. W., & Snider, W. D. (1996) Motor neurons in Cu/Zn superoxide dismutase-deficient mice develop normally but exhibit enhanced cell death after axonal injury. Nat. Genet. 13, 43-47.
-
(1996)
Nat. 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 R.H., Jr.10
Scott, R.W.11
Snider, W.D.12
-
22
-
-
0029854883
-
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, J. J., & Matthijs, G. (1996) D90A heterozygosity in the SOD1 gene is associated with familial and apparently sporadic amyotrophic lateral sclerosis. Neurology 47, 1336-1339.
-
(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
-
23
-
-
0027952571
-
Cu/Zn superoxide dismutase activity in familial and sporadic amyotrophic lateral sclerosis
-
Robberecht, W., Sapp, P., Viaene, M. K., Rosen, D., McKenna-Yasek, D., Haines, J., Horvitz, R., Theys, P., & Brown Jr, R. H. (1994) Cu/Zn superoxide dismutase activity in familial and sporadic 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 R.H., Jr.9
-
24
-
-
0035065017
-
Sporadic ALS associated with the D90A Cu,Zn superoxide dismutase mutation in Russia
-
Skvortsova, V. I., Limborska, S. A., Slominsky, P. A., Levitskaya, N. I., Levitsky, G. N., Shadrina, M. I., & Kondratyeva, E. A. (2001) Sporadic ALS associated with the D90A Cu,Zn superoxide dismutase mutation in Russia. Eur. J. Neurol. 8, 167-172.
-
(2001)
Eur. J. Neurol.
, vol.8
, pp. 167-172
-
-
Skvortsova, V.I.1
Limborska, S.A.2
Slominsky, P.A.3
Levitskaya, N.I.4
Levitsky, G.N.5
Shadrina, M.I.6
Kondratyeva, E.A.7
-
25
-
-
0027997236
-
Analysis of the functional effects of a mutation in SOD1 associated with familial amyotrophic lateral sclerosis
-
Tsuda, T., Munthasser, S., Fraser, P. E., Percy, M. E., Rainero, I., Vaula, G., Pinessi, L., Bergamini, L., Vignocchi, G., & McLachlan, D. R. (1994) Analysis of the functional effects of a mutation in SOD1 associated with familial amyotrophic lateral sclerosis. Neuron 13, 727-736.
-
(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
Pinessi, L.7
Bergamini, L.8
Vignocchi, G.9
McLachlan, D.R.10
-
26
-
-
0033753586
-
Recessively inherited amyotrophic lateral sclerosis: A German family with the D90A CuZn-SOD mutation
-
Winter, S. M., Claus, A., Oberwittler, C., Volkel, H, Wenzler, S., & Ludolph, A. C. (2000) Recessively inherited amyotrophic lateral sclerosis: a German family with the D90A CuZn-SOD mutation. J. Neurol. 247, 783-786.
-
(2000)
J. Neurol.
, vol.247
, pp. 783-786
-
-
Winter, S.M.1
Claus, A.2
Oberwittler, C.3
Volkel, H.4
Wenzler, S.5
Ludolph, A.C.6
|