2 NOVEL SOD1 MUTATIONS IN PATIENTS WITH FAMILIAL AMYOTROPHIC-LATERAL-SCLEROSIS

[1] Mulder D.W., Kurland L.T., Offord K.P., Beard C.M., Familial adult motor neuron disease: Amyotrophic lateral sclerosis, Neurology, 36, pp. 511-517, (1986)

[2] Siddique T., Figlewicz D.A., Pericak-Vance M.A., Haines J.L., Rouleau G., Jeffers A.J., Sapp P., Hung W.-Y., Bebout J., McKenna-Yasek D., Horvitz H.R., Gusella J.F., Brown R.H., Roses A.D., Linkage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity, N. Engl.J. Med, 324, pp. 1381-1384, (1991)

[3] Rosen D.R., Siddique T., Patterson D., Figlewicz D.A., Sapp P., Hetati A., Donaldson D., Goto J., O'Regan J.P., Deng H.-X., Rahmani Z., Krizus A., McKenna-Yasek D., Cayabyab A., Gaston S.M., Berger R., Tanzi R.E., Halperin J.J., Herzfeldt B., Van Den Bergh R., Hung W.-Y., Bird T., Deng G., Mulder D.W., Smyth C., Laing N.G., Soriano E., Pericak-Vance M.A., Haines J., Rouleau G.A., Gusella G.F., Horvitz H.R., Brown R.H., Mutations in Cu/Zn superoxide dismutase gene are associated with familial am

[4] Deng H.-X., Hentati A., Tainer J.A., Iqbal Z., Cayabyab A., Hung W.-Y., Getzoff E.D., Hu P., Herzfeldt B., Roos R.P., Warner C., Deng G., Soriano E., Smyth C., Parge H.E., Ahmed A., Roses A.D., Hallewell R.A., Paricak-Vance M.A., Siddique T., Amyotrophic lateral sclerosis and structural defects in Cu, Zn superoxide dismutase, Science, 261, pp. 1047-1051, (1993)

[5] Aoki M., Ogasawara M., Matsubara Y., Narisawa K., Nakamura S., Itoyama Y., Abe K., Mild ALS in Japan associated with novel SOD mutation, Nature Genet, 5, pp. 102-103, (1993)

[6] Bowling A.C., Schulz J.B., Brown R.H., Beal M.F., Superoxide dismutase activity, oxidative damage, and mitochondrial energy metabolism in familial and sporadic amyotrophic lateral sclerosis, J. Neurochem, 61, pp. 2322-2325, (1993)

[7] Rosen D.R., Bowling A.C., Patterson D., Usdin T.B., Sapp P., Mezey E., McKenna-Yasek D., O'Regan J., Rahmani Z., Ferrante R.J., Brownstein M.J., Kowall N.W., Beal M.F., Horvitz H.R., Brown R.H., A frequent Ala4 to Val superoxide dismutase-1 mutation is associated with a rapidly progressive familial amyotrophic lateral sclerosis, Hum. Mol. Genet, 3, pp. 981-987, (1994)

[8] Gurney M.E., Pu H.-F., Chiu A.Y., Dal Canto M.C.D., Polchow C.Y., Alexander D.D., Caliendo J., Hentati A., Kwon Y.W., Deng H.-X., Chen W.-J., Zhai P., Sufix R.C., Siddique T., Motor neuron degeneration in mice that express a human Cu, Zn superoxide dismutase mutation, Science, 264, pp. 1772-1775, (1994)

[9] Marx J., Mouse model found for ALS, Science, 264, pp. 1663-1664, (1994)

[10] Elshafey A., Lanyon W.G., Connor J.M., Identification of a new missense point mutation in exon 4 of the Cu/Zn superoxide dismutase (SOD-1) gene in a family with amytrophic lateral sclerosis, Hum. Mol. Genet, 3, pp. 363-364, (1994)

[1] Mulder D.W., Kurland L.T., Offord K.P., Beard C.M., Familial adult motor neuron disease: Amyotrophic lateral sclerosis, Neurology, 36, pp. 511-517, (1986)

[2] Siddique T., Figlewicz D.A., Pericak-Vance M.A., Haines J.L., Rouleau G., Jeffers A.J., Sapp P., Hung W.-Y., Bebout J., McKenna-Yasek D., Horvitz H.R., Gusella J.F., Brown R.H., Roses A.D., Linkage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity, N. Engl.J. Med, 324, pp. 1381-1384, (1991)

[3] Rosen D.R., Siddique T., Patterson D., Figlewicz D.A., Sapp P., Hetati A., Donaldson D., Goto J., O'Regan J.P., Deng H.-X., Rahmani Z., Krizus A., McKenna-Yasek D., Cayabyab A., Gaston S.M., Berger R., Tanzi R.E., Halperin J.J., Herzfeldt B., Van Den Bergh R., Hung W.-Y., Bird T., Deng G., Mulder D.W., Smyth C., Laing N.G., Soriano E., Pericak-Vance M.A., Haines J., Rouleau G.A., Gusella G.F., Horvitz H.R., Brown R.H., Mutations in Cu/Zn superoxide dismutase gene are associated with familial am

[4] Deng H.-X., Hentati A., Tainer J.A., Iqbal Z., Cayabyab A., Hung W.-Y., Getzoff E.D., Hu P., Herzfeldt B., Roos R.P., Warner C., Deng G., Soriano E., Smyth C., Parge H.E., Ahmed A., Roses A.D., Hallewell R.A., Paricak-Vance M.A., Siddique T., Amyotrophic lateral sclerosis and structural defects in Cu, Zn superoxide dismutase, Science, 261, pp. 1047-1051, (1993)

[5] Aoki M., Ogasawara M., Matsubara Y., Narisawa K., Nakamura S., Itoyama Y., Abe K., Mild ALS in Japan associated with novel SOD mutation, Nature Genet, 5, pp. 102-103, (1993)

[6] Bowling A.C., Schulz J.B., Brown R.H., Beal M.F., Superoxide dismutase activity, oxidative damage, and mitochondrial energy metabolism in familial and sporadic amyotrophic lateral sclerosis, J. Neurochem, 61, pp. 2322-2325, (1993)

[7] Rosen D.R., Bowling A.C., Patterson D., Usdin T.B., Sapp P., Mezey E., McKenna-Yasek D., O'Regan J., Rahmani Z., Ferrante R.J., Brownstein M.J., Kowall N.W., Beal M.F., Horvitz H.R., Brown R.H., A frequent Ala4 to Val superoxide dismutase-1 mutation is associated with a rapidly progressive familial amyotrophic lateral sclerosis, Hum. Mol. Genet, 3, pp. 981-987, (1994)

[8] Gurney M.E., Pu H.-F., Chiu A.Y., Dal Canto M.C.D., Polchow C.Y., Alexander D.D., Caliendo J., Hentati A., Kwon Y.W., Deng H.-X., Chen W.-J., Zhai P., Sufix R.C., Siddique T., Motor neuron degeneration in mice that express a human Cu, Zn superoxide dismutase mutation, Science, 264, pp. 1772-1775, (1994)

[9] Marx J., Mouse model found for ALS, Science, 264, pp. 1663-1664, (1994)

[10] Elshafey A., Lanyon W.G., Connor J.M., Identification of a new missense point mutation in exon 4 of the Cu/Zn superoxide dismutase (SOD-1) gene in a family with amytrophic lateral sclerosis, Hum. Mol. Genet, 3, pp. 363-364, (1994)