-
1
-
-
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 A, Donaldson D, Goto J, O'Regan JP, Deng HX, Rahmani Z, Krizus A, McKenna-Yasec D, Cayabyab A, Gaston SM, Berger R, Tanzi RE, Halperin JJ, Herzfeldt B, Ven 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, Brown RH: Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 1993, 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
Hentati, A.6
Donaldson, D.7
Goto, J.8
O'Regan, J.P.9
Deng, H.X.10
Rahmani, Z.11
Krizus, A.12
McKenna-Yasec, D.13
Cayabyab, A.14
Gaston, S.M.15
Berger, R.16
Tanzi, R.E.17
Halperin, J.J.18
Herzfeldt, B.19
Ven 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, R.H.33
more..
-
2
-
-
0031057003
-
Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis
-
Cudkowicz ME, McKenna-Yasek D, Sapp PE, Chin W, Geller B, Hayden DL, Schoenfeld DA, Hosler BA, Horvitz HR, Brown RH: Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis. Ann Neurol 1997, 41:210-221.
-
(1997)
Ann Neurol
, vol.41
, pp. 210-221
-
-
Cudkowicz, M.E.1
McKenna-Yasek, D.2
Sapp, P.E.3
Chin, W.4
Geller, B.5
Hayden, D.L.6
Schoenfeld, D.A.7
Hosler, B.A.8
Horvitz, H.R.9
Brown, R.H.10
-
3
-
-
2442658908
-
Chance, DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)
-
Chen YZ, Bennett CL, Huynh HM, Blair IP, Puls I, Irobi J, Dierick I, Abel A, Kennerson ML, Rabin BA, Nicholson GA, Auer-Grumbach M, Wagner K, De Jonghe P, Griffin JW, Fischbeck KH, Timmerman V, Cornblath DR, Chance PF: Chance, DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). Am J Hum Genet 2004, 74:1128-1135.
-
(2004)
Am J Hum Genet
, vol.74
, pp. 1128-1135
-
-
Chen, Y.Z.1
Bennett, C.L.2
Huynh, H.M.3
Blair, I.P.4
Puls, I.5
Irobi, J.6
Dierick, I.7
Abel, A.8
Kennerson, M.L.9
Rabin, B.A.10
Nicholson, G.A.11
Auer-Grumbach, M.12
Wagner, K.13
De Jonghe, P.14
Griffin, J.W.15
Fischbeck, K.H.16
Timmerman, V.17
Cornblath, D.R.18
Chance, P.F.19
-
4
-
-
0034785509
-
The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis
-
Yang Y, Hentati A, Deng HX, Dabbagh O, Sasaki T, Hirano M, Hung WY, Ouahchi K, Yan J, Azim AC, Cole N, Gascon G, Yagmour A, Ben-Hamida M, Pericak-Vance M, Hentati F, Siddique T: The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. Nat Genet 2001, 29:160-165.
-
(2001)
Nat Genet
, vol.29
, pp. 160-165
-
-
Yang, Y.1
Hentati, A.2
Deng, H.X.3
Dabbagh, O.4
Sasaki, T.5
Hirano, M.6
Hung, W.Y.7
Ouahchi, K.8
Yan, J.9
Azim, A.C.10
Cole, N.11
Gascon, G.12
Yagmour, A.13
Ben-Hamida, M.14
Pericak-Vance, M.15
Hentati, F.16
Siddique, T.17
-
5
-
-
84872268846
-
-
Website title [http://www.alsod.org]
-
-
-
-
6
-
-
0347385145
-
Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis
-
Hand CK, Devon RS, Gros-Louis F, Rochefort D, Khoris J, Meininger V, Bouchard JP, Camu W, Hayden MR, Rouleau GA: Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis. Arch Neurol 2003, 60:1768-1771.
-
(2003)
Arch Neurol
, vol.60
, pp. 1768-1771
-
-
Hand, C.K.1
Devon, R.S.2
Gros-Louis, F.3
Rochefort, D.4
Khoris, J.5
Meininger, V.6
Bouchard, J.P.7
Camu, W.8
Hayden, M.R.9
Rouleau, G.A.10
-
8
-
-
0035957312
-
Homozygous deletion of the survival motor neuron 2 gene is a prognostic factor in sporadic ALS
-
Veldink JH, van den Berg LH, Cobben JM, Stulp RP, De Jong JM, Vogels OJ, Baas F, Wokke JH, Scheffer H: Homozygous deletion of the survival motor neuron 2 gene is a prognostic factor in sporadic ALS. Neurology 2001, 56:749-752.
-
(2001)
Neurology
, vol.56
, pp. 749-752
-
-
Veldink, J.H.1
Van Den Berg, L.H.2
Cobben, J.M.3
Stulp, R.P.4
De Jong, J.M.5
Vogels, O.J.6
Baas, F.7
Wokke, J.H.8
Scheffer, H.9
-
9
-
-
0030034545
-
SOD1 mutations associated with accumulation of neurofilaments in amyotrophic lateral sclerosis
-
Rouleau GA, Clark AW, Rooke K, Pramatarova A, Krizus A, Suchowersky O, Julien JP, Figlewicz D: SOD1 mutations associated with accumulation of neurofilaments in amyotrophic lateral sclerosis. Ann Neurol 1996, 39:128-131.
-
(1996)
Ann Neurol
, vol.39
, pp. 128-131
-
-
Rouleau, G.A.1
Clark, A.W.2
Rooke, K.3
Pramatarova, A.4
Krizus, A.5
Suchowersky, O.6
Julien, J.P.7
Figlewicz, D.8
-
10
-
-
0041903805
-
VEGF is a modifier of amyotrophic lateral sclerosis in mice and humans and protects motoneurons against ischemic death
-
Lambrechts D, Storkebaum E, Morimoto M, Del-Favero J, Desmet F, Marklund SL, Wyns S, Thijs V, Andersson J, van Marion I, Al-Chalabi A, Bornes S, Musson R, Hansen V, Beckman L, Adolfsson R, Pall HS, Prats H, Vermeire S, Rutgeerts P, Katayama S, Awata T, Leigh N, Lang-Lazdunski L, Dewerchin M, Shaw C, Moons L, Vlietinck R, Morrison KE, Robberecht W, Van Broeckhoven C, Collen D, Andersen PM, Carmeliet P: VEGF is a modifier of amyotrophic lateral sclerosis in mice and humans and protects motoneurons against ischemic death. Nat Genet 2003, 34:383-394.
-
(2003)
Nat Genet
, vol.34
, pp. 383-394
-
-
Lambrechts, D.1
Storkebaum, E.2
Morimoto, M.3
Del-Favero, J.4
Desmet, F.5
Marklund, S.L.6
Wyns, S.7
Thijs, V.8
Andersson, J.9
Van Marion, I.10
Al-Chalabi, A.11
Bornes, S.12
Musson, R.13
Hansen, V.14
Beckman, L.15
Adolfsson, R.16
Pall, H.S.17
Prats, H.18
Vermeire, S.19
Rutgeerts, P.20
Katayama, S.21
Awata, T.22
Leigh, N.23
Lang-Lazdunski, L.24
Dewerchin, M.25
Shaw, C.26
Moons, L.27
Vlietinck, R.28
Morrison, K.E.29
Robberecht, W.30
Van Broeckhoven, C.31
Collen, D.32
Andersen, P.M.33
Carmeliet, P.34
more..
-
11
-
-
1542378930
-
RNA editing and the death of motor neurons: There is a glutamate-receptor defect in patients with amyotrophic lateral sclerosis
-
Kawahara Y, Ito K, Sun H, Aizawa H, Kanazawa I, Kwak S: RNA editing and the death of motor neurons: there is a glutamate-receptor defect in patients with amyotrophic lateral sclerosis. Nature 2004:427-801.
-
(2004)
Nature
, pp. 427-801
-
-
Kawahara, Y.1
Ito, K.2
Sun, H.3
Aizawa, H.4
Kanazawa, I.5
Kwak, S.6
-
12
-
-
0035885774
-
Association of APOE ε4 allele with survival in amyotrophic lateral sclerosis
-
Drory VE, Birnbaum M, Korczyn AD, Chapman J: Association of APOE ε4 allele with survival in amyotrophic lateral sclerosis. J Neurol Sci 2001, 190:17-20.
-
(2001)
J Neurol Sci
, vol.190
, pp. 17-20
-
-
Drory, V.E.1
Birnbaum, M.2
Korczyn, A.D.3
Chapman, J.4
-
13
-
-
0042975395
-
Amyotrophic lateral sclerosis, lead, and genetic susceptibility: Polymorphisms in the delta-aminolevulinic acid dehydratase and vitamin D receptor genes
-
Kamel F, Umbach DM, Lehman TA, Park LP, Munsat TL, Shefner JM, Sandler DP, Hu H, Taylor JA: Amyotrophic lateral sclerosis, lead, and genetic susceptibility: polymorphisms in the delta-aminolevulinic acid dehydratase and vitamin D receptor genes. Environ Health Perspect 2003, 111:1335-1339.
-
(2003)
Environ Health Perspect
, vol.111
, pp. 1335-1339
-
-
Kamel, F.1
Umbach, D.M.2
Lehman, T.A.3
Park, L.P.4
Munsat, T.L.5
Shefner, J.M.6
Sandler, D.P.7
Hu, H.8
Taylor, J.A.9
-
14
-
-
0035036119
-
Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: Identification of three novel missense mutations
-
Gellera C, Castellotti B, Riggio MC, Silani V, Morandi L, Testa D, Casali C, Taroni F, Di Donato S, Zeviani M, Mariotti C: Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations. Neuromuscul Disord 2001, 11:404-410.
-
(2001)
Neuromuscul Disord
, vol.11
, pp. 404-410
-
-
Gellera, C.1
Castellotti, B.2
Riggio, M.C.3
Silani, V.4
Morandi, L.5
Testa, D.6
Casali, C.7
Taroni, F.8
Di Donato, S.9
Zeviani, M.10
Mariotti, C.11
-
15
-
-
22144446302
-
Penco SOD1 mutations in amyotrophic lateral sclerosis. Results from a multicenter Italian study
-
Battistini S, Giannini F, Greco G, Bibbo G, Ferrera L, Marini V, Causarano R, Casula M, Lando G, Patrosso MC, Caponnetto C, Origone P, Marocchi A, Del Corona A, Siciliano G, Carrera P, Mascia V, Giagheddu M, Carcassi C, Orru S, Garre C: Penco SOD1 mutations in amyotrophic lateral sclerosis. Results from a multicenter Italian study. J Neurol 2005, 252:782-788.
-
(2005)
J Neurol
, vol.252
, pp. 782-788
-
-
Battistini, S.1
Giannini, F.2
Greco, G.3
Bibbo, G.4
Ferrera, L.5
Marini, V.6
Causarano, R.7
Casula, M.8
Lando, G.9
Patrosso, M.C.10
Caponnetto, C.11
Origone, P.12
Marocchi, A.13
Del Corona, A.14
Siciliano, G.15
Carrera, P.16
Mascia, V.17
Giagheddu, M.18
Carcassi, C.19
Orru, S.20
Garre, C.21
more..
-
16
-
-
6344257200
-
A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis
-
Nishimura AL, Mitne-Neto M, Silva HC, Richieri-Costa A, Middleton S, Cascio D, Kok F, Oliveira JR, Gillingwater T, Webb J, Skehel P, Zatz M: A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. Am J Hum Genet 2004, 75:822-831.
-
(2004)
Am J Hum Genet
, vol.75
, pp. 822-831
-
-
Nishimura, A.L.1
Mitne-Neto, M.2
Silva, H.C.3
Richieri-Costa, A.4
Middleton, S.5
Cascio, D.6
Kok, F.7
Oliveira, J.R.8
Gillingwater, T.9
Webb, J.10
Skehel, P.11
Zatz, M.12
-
17
-
-
0034574407
-
El Escorial revisited: Revised criteria for the diagnosis of amyotrophic lateral sclerosis
-
World Federation of Neurology Research Group on Motor Neuron Diseases
-
Brooks BR, Miller RG, Swash M, Munsat TL: World Federation of Neurology Research Group on Motor Neuron Diseases. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord 2000, 1:293-299.
-
(2000)
Amyotroph Lateral Scler Other Motor Neuron Disord
, vol.1
, pp. 293-299
-
-
Brooks, B.R.1
Miller, R.G.2
Swash, M.3
Munsat, T.L.4
-
18
-
-
84872263070
-
-
Website title [http://www.ncbi.nlm.nih.gov/SNP]
-
-
-
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