-
1
-
-
0029983886
-
Clinical characteristics of familial amyotrophic lateral sclerosis with Cu/Zn superoxide dismutase gene mutations
-
Abe K., Aoki M., Ikeda M., Watanabe M., Hirai S., Itoyama Y. Clinical characteristics of familial amyotrophic lateral sclerosis with Cu/Zn superoxide dismutase gene mutations. J. Neurol. Sci. 1996, 136:108-116.
-
(1996)
J. Neurol. Sci.
, vol.136
, pp. 108-116
-
-
Abe, K.1
Aoki, M.2
Ikeda, M.3
Watanabe, M.4
Hirai, S.5
Itoyama, Y.6
-
2
-
-
0032796004
-
Mutational analysis of the Cu/Zn superoxide dismutase gene in 23 familial and 69 sporadic cases of amyotrophic lateral sclerosis in Belgium
-
Aguirre T., Matthijs G., Robberecht W., Tilkin P., Cassiman J.J. Mutational analysis of the Cu/Zn superoxide dismutase gene in 23 familial and 69 sporadic cases of amyotrophic lateral sclerosis in Belgium. Eur. J. Hum. Genet. 1999, 7:599-602.
-
(1999)
Eur. J. Hum. Genet.
, vol.7
, pp. 599-602
-
-
Aguirre, T.1
Matthijs, G.2
Robberecht, W.3
Tilkin, P.4
Cassiman, J.J.5
-
3
-
-
31544466502
-
Amyotrophic lateral sclerosis associated with mutations in the CuZn superoxide dismutase gene
-
Andersen P.M. Amyotrophic lateral sclerosis associated with mutations in the CuZn superoxide dismutase gene. Curr. Neurol. Neurosci. Rep. 2006, 6:37-46.
-
(2006)
Curr. Neurol. Neurosci. Rep.
, vol.6
, pp. 37-46
-
-
Andersen, P.M.1
-
4
-
-
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. Phenotypic heterogeneity in motor neuron disease patients with CuZn-superoxide dismutase mutations in Scandinavia. Brain 1997, 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
-
5
-
-
0038446777
-
Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes
-
Andersen P.M., Sims K.B., Xin W.W., Kiely R., O'Neill G., Ravits J., Pioro E., Harati Y., Brower R.D., Levine J.S., Heinicke H.U., Seltzer W., Boss M., Brown R.H. Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes. Amyotroph. Lateral Scler. Other Mot. Neuron Disord. 2003, 4:62-73.
-
(2003)
Amyotroph. Lateral Scler. Other Mot. Neuron Disord.
, vol.4
, pp. 62-73
-
-
Andersen, P.M.1
Sims, K.B.2
Xin, W.W.3
Kiely, R.4
O'Neill, G.5
Ravits, J.6
Pioro, E.7
Harati, Y.8
Brower, R.D.9
Levine, J.S.10
Heinicke, H.U.11
Seltzer, W.12
Boss, M.13
Brown, R.H.14
-
6
-
-
79958771485
-
A novel codon4 mutation (A4F) in the SOD1gene in familial amyotrophic lateral sclerosis
-
Baek W., Koh S.H., Park J.S., Kim Y.S., Kim H.Y., Kwon M.J., Ki C.S., Kim S.H. A novel codon4 mutation (A4F) in the SOD1gene in familial amyotrophic lateral sclerosis. J. Neurol. Sci. 2011, 306:157-159.
-
(2011)
J. Neurol. Sci.
, vol.306
, pp. 157-159
-
-
Baek, W.1
Koh, S.H.2
Park, J.S.3
Kim, Y.S.4
Kim, H.Y.5
Kwon, M.J.6
Ki, C.S.7
Kim, S.H.8
-
7
-
-
0034574407
-
El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis
-
Brooks B.R., Miller R.G., Swash M., Munsat T.L. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph. Lateral Scler. Other Mot. Neuron Disord. 2000, 1:293-299.
-
(2000)
Amyotroph. Lateral Scler. Other Mot. Neuron Disord.
, vol.1
, pp. 293-299
-
-
Brooks, B.R.1
Miller, R.G.2
Swash, M.3
Munsat, T.L.4
-
8
-
-
79955774490
-
Rate of familial amyotrophic lateral sclerosis: a systematic review and meta-analysis
-
Byrne S., Walsh C., Lynch C., Bede P., Elamin M., Kenna K., McLaughlin R., Hardiman O. Rate of familial amyotrophic lateral sclerosis: a systematic review and meta-analysis. J. Neurol. Neurosurg. Psychiatry. 2011, 82:623-627.
-
(2011)
J. Neurol. Neurosurg. Psychiatry.
, vol.82
, pp. 623-627
-
-
Byrne, S.1
Walsh, C.2
Lynch, C.3
Bede, P.4
Elamin, M.5
Kenna, K.6
McLaughlin, R.7
Hardiman, O.8
-
9
-
-
0032769571
-
Genetics of familial ALS and consequences for diagnosis. French ALS Research Group
-
Camu W., Khoris J., Moulard B., Salachas F., Briolotti V., Rouleau G.A., Meininger V. Genetics of familial ALS and consequences for diagnosis. French ALS Research Group. J. Neurol. Sci. 1999, 165(Suppl 1):S21-S26.
-
(1999)
J. Neurol. Sci.
, vol.165
, Issue.SUPPL. 1
-
-
Camu, W.1
Khoris, J.2
Moulard, B.3
Salachas, F.4
Briolotti, V.5
Rouleau, G.A.6
Meininger, V.7
-
10
-
-
67349155310
-
Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation
-
ITALSGEN Consortium
-
Chiò A., Restagno G., Brunetti M., Ossola I., Calvo A., Mora G., Sabatelli M., Monsurrò M.R., Battistini S., Mandrioli J., Salvi F., Spataro R., Schymick J., Traynor B.J., La Bella V. Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation. Neurobiol. Aging 2009, 30:1272-1275. ITALSGEN Consortium.
-
(2009)
Neurobiol. Aging
, vol.30
, pp. 1272-1275
-
-
Chiò, A.1
Restagno, G.2
Brunetti, M.3
Ossola, I.4
Calvo, A.5
Mora, G.6
Sabatelli, M.7
Monsurrò, M.R.8
Battistini, S.9
Mandrioli, J.10
Salvi, F.11
Spataro, R.12
Schymick, J.13
Traynor, B.J.14
La Bella, V.15
-
11
-
-
40349102131
-
Prevalence of SOD1 mutations in the Italian ALS population
-
Chiò A., Traynor B.J., Lombardo F., Fimognari M., Calvo A., Ghiglione P., Mutani R., Restagno G. Prevalence of SOD1 mutations in the Italian ALS population. Neurology 2008, 70:533-537.
-
(2008)
Neurology
, vol.70
, pp. 533-537
-
-
Chiò, A.1
Traynor, B.J.2
Lombardo, F.3
Fimognari, M.4
Calvo, A.5
Ghiglione, P.6
Mutani, R.7
Restagno, G.8
-
12
-
-
77949760219
-
Mutations of FUS gene in sporadic amyotrophic lateral sclerosis
-
Corrado L., Del Bo R., Castellotti B., Ratti A., Cereda C., Penco S., Sorarù G., Carlomagno Y., Ghezzi S., Pensato V., Colombrita C., Gagliardi S., Cozzi L., Orsetti V., Mancuso M., Siciliano G., Mazzini L., Comi G.P., Gellera C., Ceroni M., D'Alfonso S., Silani V. Mutations of FUS gene in sporadic amyotrophic lateral sclerosis. J. Med. Genet. 2010, 47:190-194.
-
(2010)
J. Med. Genet.
, vol.47
, pp. 190-194
-
-
Corrado, L.1
Del Bo, R.2
Castellotti, B.3
Ratti, A.4
Cereda, C.5
Penco, S.6
Sorarù, G.7
Carlomagno, Y.8
Ghezzi, S.9
Pensato, V.10
Colombrita, C.11
Gagliardi, S.12
Cozzi, L.13
Orsetti, V.14
Mancuso, M.15
Siciliano, G.16
Mazzini, L.17
Comi, G.P.18
Gellera, C.19
Ceroni, M.20
D'Alfonso, S.21
Silani, V.22
more..
-
13
-
-
52649137926
-
Screening of hypoxia-inducible genes in sporadic ALS
-
Cronin S., Greenway M.J., Andersen P.M., Hardiman O. Screening of hypoxia-inducible genes in sporadic ALS. Amyotroph. Lateral Scler. 2008, 9:299-305.
-
(2008)
Amyotroph. Lateral Scler.
, vol.9
, pp. 299-305
-
-
Cronin, S.1
Greenway, M.J.2
Andersen, P.M.3
Hardiman, O.4
-
14
-
-
0031057003
-
Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis
-
Cudkowicz M.E., McKenna-Yasek D., Sapp P.E., Chin W., Geller B., Hayden D.L., Schoenfeld D.A., Hosler B.A., Horvitz H.R., Brown R.H. 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
-
15
-
-
42549146696
-
SOD1 gene mutations in ALS patients from British Columbia, Canada: clinical features, neurophysiology and ethical issues in management
-
Eisen A., Mezei M.M., Stewart H.G., Fabros M., Gibson G., Andersen P.M. SOD1 gene mutations in ALS patients from British Columbia, Canada: clinical features, neurophysiology and ethical issues in management. Amyotroph. Lateral Scler. 2008, 9:108-119.
-
(2008)
Amyotroph. Lateral Scler.
, vol.9
, pp. 108-119
-
-
Eisen, A.1
Mezei, M.M.2
Stewart, H.G.3
Fabros, M.4
Gibson, G.5
Andersen, P.M.6
-
16
-
-
68449084458
-
Identification of novel Angiogenin (ANG) gene missense variants in German patients with amyotrophic lateral sclerosis
-
Fernández-Santiago R., Hoenig S., Lichtner P., Sperfeld A.D., Sharma M., Berg D., Weichenrieder O., Illig T., Eger K., Meyer T., Anneser J., Münch C., Zierz S., Gasser T., Ludolph A. Identification of novel Angiogenin (ANG) gene missense variants in German patients with amyotrophic lateral sclerosis. J. Neurol. 2009, 256:1337-1342.
-
(2009)
J. Neurol.
, vol.256
, pp. 1337-1342
-
-
Fernández-Santiago, R.1
Hoenig, S.2
Lichtner, P.3
Sperfeld, A.D.4
Sharma, M.5
Berg, D.6
Weichenrieder, O.7
Illig, T.8
Eger, K.9
Meyer, T.10
Anneser, J.11
Münch, C.12
Zierz, S.13
Gasser, T.14
Ludolph, A.15
-
17
-
-
33746303958
-
Mutational analysis of the Cu/Zn superoxide dismutase gene in a Catalan ALS population: should all sporadic ALS cases also be screened for SOD1?
-
Gamez J., Corbera-Bellalta M., Nogales G., Raguer N., García-Arumí E., Badia-Canto M., Lladó-Carbó E., Alvarez-Sabín J. Mutational analysis of the Cu/Zn superoxide dismutase gene in a Catalan ALS population: should all sporadic ALS cases also be screened for SOD1?. J. Neurol. Sci. 2006, 247:21-28.
-
(2006)
J. Neurol. Sci.
, vol.247
, pp. 21-28
-
-
Gamez, J.1
Corbera-Bellalta, M.2
Nogales, G.3
Raguer, N.4
García-Arumí, E.5
Badia-Canto, M.6
Lladó-Carbó, E.7
Alvarez-Sabín, J.8
-
18
-
-
33645422711
-
ANG mutations segregate with familial and "sporadic" amyotrophic lateral sclerosis
-
Greenway M.J., Andersen P.M., Russ C., Ennis S., Cashman S., Donaghy C., Patterson V., Swingler R., Kieran D., Prehn J., Morrison K.E., Green A., Acharya K.R., Brown R.H., Hardiman O. ANG mutations segregate with familial and "sporadic" amyotrophic lateral sclerosis. Nat. Genet. 2006, 38:411-413.
-
(2006)
Nat. Genet.
, vol.38
, pp. 411-413
-
-
Greenway, M.J.1
Andersen, P.M.2
Russ, C.3
Ennis, S.4
Cashman, S.5
Donaghy, C.6
Patterson, V.7
Swingler, R.8
Kieran, D.9
Prehn, J.10
Morrison, K.E.11
Green, A.12
Acharya, K.R.13
Brown, R.H.14
Hardiman, O.15
-
19
-
-
48749087900
-
TDP-43 is not a common cause of sporadic amyotrophic lateral sclerosis
-
Guerreiro R.J., Schymick J.C., Crews C., Singleton A., Hardy J., Traynor B.J. TDP-43 is not a common cause of sporadic amyotrophic lateral sclerosis. PLoS One 2008, 3:e2450.
-
(2008)
PLoS One
, vol.3
-
-
Guerreiro, R.J.1
Schymick, J.C.2
Crews, C.3
Singleton, A.4
Hardy, J.5
Traynor, B.J.6
-
20
-
-
77950902239
-
Novel FUS/TLS mutations and pathology in familial and sporadic amyotrophic lateral sclerosis
-
Hewitt C., Kirby J., Highley J.R., Hartley J.A., Hibberd R., Hollinger H.C., Williams T.L., Ince P.G., McDermott C.J., Shaw P.J. Novel FUS/TLS mutations and pathology in familial and sporadic amyotrophic lateral sclerosis. Arch. Neurol. 2010, 67:455-461.
-
(2010)
Arch. Neurol.
, vol.67
, pp. 455-461
-
-
Hewitt, C.1
Kirby, J.2
Highley, J.R.3
Hartley, J.A.4
Hibberd, R.5
Hollinger, H.C.6
Williams, T.L.7
Ince, P.G.8
McDermott, C.J.9
Shaw, P.J.10
-
21
-
-
0028916910
-
Superoxide dismutase mutations in an unselected cohort of Scottish amyotrophic lateral sclerosis patients
-
Jones C.T., Swingler R.J., Simpson S.A., Brock D.J. Superoxide dismutase mutations in an unselected cohort of Scottish amyotrophic lateral sclerosis patients. J. Med. Genet. 1995, 32:290-292.
-
(1995)
J. Med. Genet.
, vol.32
, pp. 290-292
-
-
Jones, C.T.1
Swingler, R.J.2
Simpson, S.A.3
Brock, D.J.4
-
22
-
-
42649120983
-
TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis
-
Kabashi E., Valdmanis P.N., Dion P., Spiegelman D., McConkey B.J., Vande Velde C., Bouchard J.P., Lacomblez L., Pochigaeva K., Salachas F., Pradat P.F., Camu W., Meininger V., Dupre N., Rouleau G.A. TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. Nat. Genet. 2008, 40:572-574.
-
(2008)
Nat. Genet.
, vol.40
, pp. 572-574
-
-
Kabashi, E.1
Valdmanis, P.N.2
Dion, P.3
Spiegelman, D.4
McConkey, B.J.5
Vande Velde, C.6
Bouchard, J.P.7
Lacomblez, L.8
Pochigaeva, K.9
Salachas, F.10
Pradat, P.F.11
Camu, W.12
Meininger, V.13
Dupre, N.14
Rouleau, G.A.15
-
23
-
-
34247222180
-
Clinical characteristics of familial amyotrophic lateral sclerosis with a Phe20Cys mutation in the SOD1 gene in a Korean family
-
Kim H.Y., Ki C.S., Koh S.H., Park K.H., Sunwoo I.N., Kim S.H. Clinical characteristics of familial amyotrophic lateral sclerosis with a Phe20Cys mutation in the SOD1 gene in a Korean family. Amyotroph. Lateral Scler. 2007, 8:73-78.
-
(2007)
Amyotroph. Lateral Scler.
, vol.8
, pp. 73-78
-
-
Kim, H.Y.1
Ki, C.S.2
Koh, S.H.3
Park, K.H.4
Sunwoo, I.N.5
Kim, S.H.6
-
24
-
-
0037437678
-
A novel SOD1 gene mutation in a Korean family with amyotrophic lateral sclerosis
-
Kim N.H., Kim H.J., Kim M., Lee K.W. A novel SOD1 gene mutation in a Korean family with amyotrophic lateral sclerosis. J. Neurol. Sci. 2003, 206:65-69.
-
(2003)
J. Neurol. Sci.
, vol.206
, pp. 65-69
-
-
Kim, N.H.1
Kim, H.J.2
Kim, M.3
Lee, K.W.4
-
25
-
-
68149165614
-
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
-
Kumar P., Henikoff S., Ng P.C. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat. Protoc. 2009, 4:1073-1081.
-
(2009)
Nat. Protoc.
, vol.4
, pp. 1073-1081
-
-
Kumar, P.1
Henikoff, S.2
Ng, P.C.3
-
26
-
-
61349156118
-
Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis
-
Kwiatkowski T.J., Bosco D.A., Leclerc A.L., Tamrazian E., Vanderburg C.R., Russ C., Davis A., Gilchrist J., Kasarskis E.J., Munsat T., Valdmanis P., Rouleau G.A., Hosler B.A., Cortelli P., de Jong P.J., Yoshinaga Y., Haines J.L., Pericak-Vance M.A., Yan J., Ticozzi N., Siddique T., McKenna-Yasek D., Sapp P.C., Horvitz H.R., Landers J.E., Brown R.H. Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science 2009, 323:1205-1208.
-
(2009)
Science
, vol.323
, pp. 1205-1208
-
-
Kwiatkowski, T.J.1
Bosco, D.A.2
Leclerc, A.L.3
Tamrazian, E.4
Vanderburg, C.R.5
Russ, C.6
Davis, A.7
Gilchrist, J.8
Kasarskis, E.J.9
Munsat, T.10
Valdmanis, P.11
Rouleau, G.A.12
Hosler, B.A.13
Cortelli, P.14
de Jong, P.J.15
Yoshinaga, Y.16
Haines, J.L.17
Pericak-Vance, M.A.18
Yan, J.19
Ticozzi, N.20
Siddique, T.21
McKenna-Yasek, D.22
Sapp, P.C.23
Horvitz, H.R.24
Landers, J.E.25
Brown, R.H.26
more..
-
27
-
-
62149141328
-
Rethinking ALS: the FUS about TDP-43
-
Lagier-Tourenne C., Cleveland D.W. Rethinking ALS: the FUS about TDP-43. Cell 2009, 136:1001-1004.
-
(2009)
Cell
, vol.136
, pp. 1001-1004
-
-
Lagier-Tourenne, C.1
Cleveland, D.W.2
-
28
-
-
77950612903
-
Incidence of amyotrophic lateral sclerosis in Europe
-
Logroscino G., Traynor B.J., Hardiman O., Chio A., Mitchell D., Swingler R.J., Millul A., Benn E., Beghi E. Incidence of amyotrophic lateral sclerosis in Europe. J. Neurol. Neurosurg. Psychiatry 2010, 81:385-390.
-
(2010)
J. Neurol. Neurosurg. Psychiatry
, vol.81
, pp. 385-390
-
-
Logroscino, G.1
Traynor, B.J.2
Hardiman, O.3
Chio, A.4
Mitchell, D.5
Swingler, R.J.6
Millul, A.7
Benn, E.8
Beghi, E.9
-
29
-
-
77952419246
-
Mutations of optineurin in amyotrophic lateral sclerosis
-
Maruyama H., Morino H., Ito H., Izumi Y., Kato H., Watanabe Y., Kinoshita Y., Kamada M., Nodera H., Suzuki H., Komure O., Matsuura S., Kobatake K., Morimoto N., Abe K., Suzuki N., Aoki M., Kawata A., Hirai T., Kato T., Ogasawara K., Hirano A., Takumi T., Kusaka H., Hagiwara K., Kaji R., Kawakami H. Mutations of optineurin in amyotrophic lateral sclerosis. Nature 2010, 465:223-226.
-
(2010)
Nature
, vol.465
, pp. 223-226
-
-
Maruyama, H.1
Morino, H.2
Ito, H.3
Izumi, Y.4
Kato, H.5
Watanabe, Y.6
Kinoshita, Y.7
Kamada, M.8
Nodera, H.9
Suzuki, H.10
Komure, O.11
Matsuura, S.12
Kobatake, K.13
Morimoto, N.14
Abe, K.15
Suzuki, N.16
Aoki, M.17
Kawata, A.18
Hirai, T.19
Kato, T.20
Ogasawara, K.21
Hirano, A.22
Takumi, T.23
Kusaka, H.24
Hagiwara, K.25
Kaji, R.26
Kawakami, H.27
more..
-
30
-
-
17144362174
-
Automated splicing mutation analysis by information theory
-
Nalla V.K., Rogan P.K. Automated splicing mutation analysis by information theory. Hum. Mutat. 2005, 25:334-342.
-
(2005)
Hum. Mutat.
, vol.25
, pp. 334-342
-
-
Nalla, V.K.1
Rogan, P.K.2
-
31
-
-
3442899724
-
Familial ALS in Germany: origin of the R115G SOD1 mutation by a founder effect
-
Niemann S., Joos H., Meyer T., Vielhaber S., Reuner U., Gleichmann M., Dengler R., Muller U. Familial ALS in Germany: origin of the R115G SOD1 mutation by a founder effect. J. Neurol. Neurosurg. Psychiatry 2004, 75:1186-1188.
-
(2004)
J. Neurol. Neurosurg. Psychiatry
, vol.75
, pp. 1186-1188
-
-
Niemann, S.1
Joos, H.2
Meyer, T.3
Vielhaber, S.4
Reuner, U.5
Gleichmann, M.6
Dengler, R.7
Muller, U.8
-
32
-
-
0027164824
-
Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
-
Rosen D.R. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 1993, 364:362.
-
(1993)
Nature
, vol.364
, pp. 362
-
-
Rosen, D.R.1
-
33
-
-
0027401203
-
Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
-
Rosen D.R., Siddique T., Patterson D., Figlewicz D.A., Sapp P., Hentati A., Donaldson D., Goto J., O'Regan J.P., Deng H.X., et al. 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
-
35
-
-
67049108824
-
Age and founder effect of SOD1 A4V mutation causing ALS
-
Saeed M., Yang Y., Deng H.X., Hung W.Y., Siddique N., Dellefave L., Gellera C., Andersen P.M., Siddique T. Age and founder effect of SOD1 A4V mutation causing ALS. Neurology 2009, 72:1634-1639.
-
(2009)
Neurology
, vol.72
, pp. 1634-1639
-
-
Saeed, M.1
Yang, Y.2
Deng, H.X.3
Hung, W.Y.4
Siddique, N.5
Dellefave, L.6
Gellera, C.7
Andersen, P.M.8
Siddique, T.9
-
36
-
-
10744228077
-
Identification of two novel mutations in the Cu/Zn superoxide dismutase gene with familial amyotrophic lateral sclerosis: mass spectrometric and genomic analyses
-
Sato T., Yamamoto Y., Nakanishi T., Fukada K., Sugai F., Zhou Z., Okuno T., Nagano S., Hirata S., Shimizu A., Sakoda S. Identification of two novel mutations in the Cu/Zn superoxide dismutase gene with familial amyotrophic lateral sclerosis: mass spectrometric and genomic analyses. J. Neurol. Sci. 2004, 218:79-83.
-
(2004)
J. Neurol. Sci.
, vol.218
, pp. 79-83
-
-
Sato, T.1
Yamamoto, Y.2
Nakanishi, T.3
Fukada, K.4
Sugai, F.5
Zhou, Z.6
Okuno, T.7
Nagano, S.8
Hirata, S.9
Shimizu, A.10
Sakoda, S.11
-
37
-
-
0031936175
-
Mutations in all five exons of SOD-1 may cause ALS
-
Shaw C.E., Enayat Z.E., Chioza B.A., Al-Chalabi A., Radunovic A., Powell J.F., Leigh P.N. Mutations in all five exons of SOD-1 may cause ALS. Ann. Neurol. 1998, 43:390-394.
-
(1998)
Ann. Neurol.
, vol.43
, pp. 390-394
-
-
Shaw, C.E.1
Enayat, Z.E.2
Chioza, B.A.3
Al-Chalabi, A.4
Radunovic, A.5
Powell, J.F.6
Leigh, P.N.7
-
38
-
-
80051570216
-
Screening for OPTN mutations in amyotrophic lateral sclerosis in a mainly Caucasian population
-
e1929-e1910
-
Sugihara K., Maruyama H., Kamada M., Morino H., Kawakami H. Screening for OPTN mutations in amyotrophic lateral sclerosis in a mainly Caucasian population. Neurobiol. Aging 2011, 32. e1929-e1910.
-
(2011)
Neurobiol. Aging
, vol.32
-
-
Sugihara, K.1
Maruyama, H.2
Kamada, M.3
Morino, H.4
Kawakami, H.5
-
39
-
-
0035869223
-
Prediction of deleterious human alleles
-
Sunyaev S., Ramensky V., Koch I., Lathe W., Kondrashov A.S., Bork P. Prediction of deleterious human alleles. Hum. Mol. Genet. 2001, 10:591-597.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 591-597
-
-
Sunyaev, S.1
Ramensky, V.2
Koch, I.3
Lathe, W.4
Kondrashov, A.S.5
Bork, P.6
-
40
-
-
0141742293
-
PANTHER: a library of protein families and subfamilies indexed by function
-
Thomas P.D., Campbell M.J., Kejariwal A., Mi H., Karlak B., Daverman R., Diemer K., Muruganujan A., Narechania A. PANTHER: a library of protein families and subfamilies indexed by function. Genome Res. 2003, 13:2129-2141.
-
(2003)
Genome Res.
, vol.13
, pp. 2129-2141
-
-
Thomas, P.D.1
Campbell, M.J.2
Kejariwal, A.3
Mi, H.4
Karlak, B.5
Daverman, R.6
Diemer, K.7
Muruganujan, A.8
Narechania, A.9
-
41
-
-
79952840023
-
Genetics of familial Amyotrophic lateral sclerosis
-
Ticozzi N., Tiloca C., Morelli C., Colombrita C., Poletti B., Doretti A., Maderna L., Messina S., Ratti A., Silani V. Genetics of familial Amyotrophic lateral sclerosis. Arch. Ital. Biol. 2011, 149:65-82.
-
(2011)
Arch. Ital. Biol.
, vol.149
, pp. 65-82
-
-
Ticozzi, N.1
Tiloca, C.2
Morelli, C.3
Colombrita, C.4
Poletti, B.5
Doretti, A.6
Maderna, L.7
Messina, S.8
Ratti, A.9
Silani, V.10
-
43
-
-
41949100148
-
TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis
-
Van Deerlin V.M., Leverenz J.B., Bekris L.M., Bird T.D., Yuan W., Elman L.B., Clay D., Wood E.M., Chen-Plotkin A.S., Martinez-Lage M., Steinbart E., McCluskey L., Grossman M., Neumann M., Wu I.L., Yang W.S., Kalb R., Galasko D.R., Montine T.J., Trojanowski J.Q., Lee V.M., Schellenberg G.D., Yu C.E. TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis. Lancet Neurol. 2008, 7:409-416.
-
(2008)
Lancet Neurol.
, vol.7
, pp. 409-416
-
-
Van Deerlin, V.M.1
Leverenz, J.B.2
Bekris, L.M.3
Bird, T.D.4
Yuan, W.5
Elman, L.B.6
Clay, D.7
Wood, E.M.8
Chen-Plotkin, A.S.9
Martinez-Lage, M.10
Steinbart, E.11
McCluskey, L.12
Grossman, M.13
Neumann, M.14
Wu, I.L.15
Yang, W.S.16
Kalb, R.17
Galasko, D.R.18
Montine, T.J.19
Trojanowski, J.Q.20
Lee, V.M.21
Schellenberg, G.D.22
Yu, C.E.23
more..
-
44
-
-
77952555551
-
Large-scale SOD1 mutation screening provides evidence for genetic heterogeneity in amyotrophic lateral sclerosis
-
van Es M.A., Dahlberg C., Birve A., Veldink J.H., van den Berg L.H., Andersen P.M. Large-scale SOD1 mutation screening provides evidence for genetic heterogeneity in amyotrophic lateral sclerosis. J. Neurol. Neurosurg. Psychiatry 2010, 81:562-566.
-
(2010)
J. Neurol. Neurosurg. Psychiatry
, vol.81
, pp. 562-566
-
-
van Es, M.A.1
Dahlberg, C.2
Birve, A.3
Veldink, J.H.4
van den Berg, L.H.5
Andersen, P.M.6
-
45
-
-
76349115779
-
Genetic contribution of FUS to frontotemporal lobar degeneration
-
Van Langenhove T., van der Zee J., Sleegers K., Engelborghs S., Vandenberghe R., Gijselinck I., Van den Broeck M., Mattheijssens M., Peeters K., De Deyn P.P., Cruts M., Van Broeckhoven C. Genetic contribution of FUS to frontotemporal lobar degeneration. Neurology 2010, 74:366-371.
-
(2010)
Neurology
, vol.74
, pp. 366-371
-
-
Van Langenhove, T.1
van der Zee, J.2
Sleegers, K.3
Engelborghs, S.4
Vandenberghe, R.5
Gijselinck, I.6
Van den Broeck, M.7
Mattheijssens, M.8
Peeters, K.9
De Deyn, P.P.10
Cruts, M.11
Van Broeckhoven, C.12
-
46
-
-
61349162349
-
Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6
-
Vance C., Rogelj B., Hortobágyi T., De Vos K.J., Nishimura A.L., Sreedharan J., Hu X., Smith B., Ruddy D., Wright P., Ganesalingam J., Williams K.L., Tripathi V., Al-Saraj S., Al-Chalabi A., Leigh P.N., Blair I.P., Nicholson G., de Belleroche J., Gallo J.M., Miller C.C., Shaw C.E. Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science 2009, 323:1208-1211.
-
(2009)
Science
, vol.323
, pp. 1208-1211
-
-
Vance, C.1
Rogelj, B.2
Hortobágyi, T.3
De Vos, K.J.4
Nishimura, A.L.5
Sreedharan, J.6
Hu, X.7
Smith, B.8
Ruddy, D.9
Wright, P.10
Ganesalingam, J.11
Williams, K.L.12
Tripathi, V.13
Al-Saraj, S.14
Al-Chalabi, A.15
Leigh, P.N.16
Blair, I.P.17
Nicholson, G.18
de Belleroche, J.19
Gallo, J.M.20
Miller, C.C.21
Shaw, C.E.22
more..
-
47
-
-
55849141905
-
Cataloging coding sequence variations in human genome databases
-
Won H.H., Kim H.J., Lee K.A., Kim J.W. Cataloging coding sequence variations in human genome databases. PLoS One 2008, 3:e3575.
-
(2008)
PLoS One
, vol.3
-
-
Won, H.H.1
Kim, H.J.2
Lee, K.A.3
Kim, J.W.4
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