-
1
-
-
41449118875
-
Diagnosis and management of motor neurone disease
-
McDermott CJ, Shaw PJ. Diagnosis and management of motor neurone disease. BMJ 2008; 336: 658-662
-
(2008)
BMJ
, vol.336
, pp. 658-662
-
-
McDermott, C.J.1
Shaw, P.J.2
-
2
-
-
41149180753
-
TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis
-
Sreedharan J, Blair IP, Tripathi VB, Hu X, Vance C, Rogelj B, Ackerley S, Durnall JC, Williams KL, Buratti E, Baralle F, de Belleroche J, Mitchell JD, Leigh PN, Al-Chalabi A, Miller CC, Nicholson G, Shaw CE. TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science 2008; 319: 1668-1672
-
(2008)
Science
, vol.319
, pp. 1668-1672
-
-
Sreedharan, J.1
Blair, I.P.2
Tripathi, V.B.3
Hu, X.4
Vance, C.5
Rogelj, B.6
Ackerley, S.7
Durnall, J.C.8
Williams, K.L.9
Buratti, E.10
de Baralle, F.11
Belleroche, J.12
Mitchell, J.D.13
Leigh, P.N.14
Al-Chalabi, A.15
Miller, C.C.16
Nicholson, G.17
Shaw, C.E.18
-
3
-
-
61349156118
-
Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis
-
Kwiatkowski TJ Jr, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P, de Jong PJ, Yoshinaga Y, Haines JL, Pericak-Vance MA, Yan J, Ticozzi N, Siddique T, McKenna-Yasek D, Sapp PC, Horvitz HR, Landers JE, Brown RH Jr. 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 Jr, 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
de Cortelli, P.14
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 Jr, R.H.26
more..
-
4
-
-
61349162349
-
Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6
-
Vance C, Rogelj B, Hortobagyi T, De Vos KJ, Nishimura AL, Sreedharan J, Hu X, Smith B, Ruddy D, Wright P, Ganesalingam J, Williams KL, Tripathi V, Al-Saraj S, Al-Chalabi A, Leigh PN, Blair I, Nicholson G, de Belleroche J, Gallo JM, Miller CC, Shaw CE. 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
Hortobagyi, 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.17
de Nicholson, G.18
Belleroche, J.19
Gallo, J.M.20
Miller, C.C.21
Shaw, C.E.22
more..
-
5
-
-
80054837386
-
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
-
Renton AE, Majounie E, Waite A, Simon-Sanchez J, Rollinson S, Gibbs JR, Schymick JC, Laaksovirta H, van Swieten JC, Myllykangas L, Kalimo H, Paetau A, Abramzon Y, Remes AM, Kaganovich A, Scholz SW, Duckworth J, Ding J, Harmer DW, Hernandez DG, Johnson JO, Mok K, Ryten M, Trabzuni D, Guerreiro RJ, Orrell RW, Neal J, Murray A, Pearson J, Jansen IE, Sondervan D, Seelaar H, Blake D, Young K, Halliwell N, Callister JB, Toulson G, Richardson A, Gerhard A, Snowden J, Mann D, Neary D, Nalls MA, Peuralinna T, Jansson L, Isoviita VM, Kaivorinne AL, Holtta-Vuori M, Ikonen E, Sulkava R, Benatar M, Wuu J, Chio A, Restagno G, Borghero G, Sabatelli M, Heckerman D, Rogaeva E, Zinman L, Rothstein JD, Sendtner M, Drepper C, Eichler EE, Alkan C, Abdullaev Z, Pack SD, Dutra A, Pak E, Hardy J, Singleton A, Williams NM, Heutink P, Pickering-Brown S, Morris HR, Tienari PJ, Traynor BJ. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 2011; 72: 257-268
-
(2011)
Neuron
, vol.72
, pp. 257-268
-
-
Renton, A.E.1
Majounie, E.2
Waite, A.3
Simon-Sanchez, J.4
Rollinson, S.5
Gibbs, J.R.6
Schymick, J.C.7
van Laaksovirta, H.8
Swieten, J.C.9
Myllykangas, L.10
Kalimo, H.11
Paetau, A.12
Abramzon, Y.13
Remes, A.M.14
Kaganovich, A.15
Scholz, S.W.16
Duckworth, J.17
Ding, J.18
Harmer, D.W.19
Hernandez, D.G.20
Johnson, J.O.21
Mok, K.22
Ryten, M.23
Trabzuni, D.24
Guerreiro, R.J.25
Orrell, R.W.26
Neal, J.27
Murray, A.28
Pearson, J.29
Jansen, I.E.30
Sondervan, D.31
Seelaar, H.32
Blake, D.33
Young, K.34
Halliwell, N.35
Callister, J.B.36
Toulson, G.37
Richardson, A.38
Gerhard, A.39
Snowden, J.40
Mann, D.41
Neary, D.42
Nalls, M.A.43
Peuralinna, T.44
Jansson, L.45
Isoviita, V.M.46
Kaivorinne, A.L.47
Holtta-Vuori, M.48
Ikonen, E.49
Sulkava, R.50
Benatar, M.51
Wuu, J.52
Chio, A.53
Restagno, G.54
Borghero, G.55
Sabatelli, M.56
Heckerman, D.57
Rogaeva, E.58
Zinman, L.59
Rothstein, J.D.60
Sendtner, M.61
Drepper, C.62
Eichler, E.E.63
Alkan, C.64
Abdullaev, Z.65
Pack, S.D.66
Dutra, A.67
Pak, E.68
Hardy, J.69
Singleton, A.70
Williams, N.M.71
Heutink, P.72
Pickering-Brown, S.73
Morris, H.R.74
Tienari, P.J.75
Traynor, B.J.76
more..
-
6
-
-
80054832080
-
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS
-
Dejesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, Nicholson AM, Finch NA, Flynn H, Adamson J, Kouri N, Wojtas A, Sengdy P, Hsiung GY, Karydas A, Seeley WW, Josephs KA, Coppola G, Geschwind DH, Wszolek ZK, Feldman H, Knopman DS, Petersen RC, Miller BL, Dickson DW, Boylan KB, Graff-Radford NR, Rademakers R. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 2011; 72: 245-256
-
(2011)
Neuron
, vol.72
, pp. 245-256
-
-
Dejesus-Hernandez, M.1
Mackenzie, I.R.2
Boeve, B.F.3
Boxer, A.L.4
Baker, M.5
Rutherford, N.J.6
Nicholson, A.M.7
Finch, N.A.8
Flynn, H.9
Adamson, J.10
Kouri, N.11
Wojtas, A.12
Sengdy, P.13
Hsiung, G.Y.14
Karydas, A.15
Seeley, W.W.16
Josephs, K.A.17
Coppola, G.18
Geschwind, D.H.19
Wszolek, Z.K.20
Feldman, H.21
Knopman, D.S.22
Petersen, R.C.23
Miller, B.L.24
Dickson, D.W.25
Boylan, K.B.26
Graff-Radford, N.R.27
Rademakers, R.28
more..
-
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 A, Donaldson D, Goto J, O'Regan JP, Deng HX, Rahmani Z, Krizus A, McKenna-Yasek D, Cayabyab A, Gaston SM, Berger R, Tanzi RE, Halperin JJ, Herzfeldt B, Van den Bergh R, Hunt W, 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 Jr. 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-Yasek, D.13
Cayabyab, A.14
Gaston, S.M.15
Berger, R.16
Tanzi, R.E.17
Halperin, J.J.18
Herzfeldt, B.19
Van Den Bergh, R.20
Hunt, W.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
-
-
8844263662
-
A novel candidate region for ALS on chromosome 14q11.2
-
Greenway MJ, Alexander MD, Ennis S, Traynor BJ, Corr B, Frost E, Green A, Hardiman O. A novel candidate region for ALS on chromosome 14q11.2. Neurology 2004; 63: 1936-1938
-
(2004)
Neurology
, vol.63
, pp. 1936-1938
-
-
Greenway, M.J.1
Alexander, M.D.2
Ennis, S.3
Traynor, B.J.4
Corr, B.5
Frost, E.6
Green, A.7
Hardiman, O.8
-
9
-
-
33645422711
-
ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis
-
Greenway MJ, Andersen PM, Russ C, Ennis S, Cashman S, Donaghy C, Patterson V, Swingler R, Kieran D, Prehn J, Morrison KE, Green A, Acharya KR, Brown RH Jr, 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 Jr, R.H.14
Hardiman, O.15
-
10
-
-
35248844678
-
Angiogenin loss-of-function mutations in amyotrophic lateral sclerosis
-
Wu D, Yu W, Kishikawa H, Folkerth RD, Iafrate AJ, Shen Y, Xin W, Sims K, Hu GF. Angiogenin loss-of-function mutations in amyotrophic lateral sclerosis. Ann Neurol 2007; 62: 609-617
-
(2007)
Ann Neurol
, vol.62
, pp. 609-617
-
-
Wu, D.1
Yu, W.2
Kishikawa, H.3
Folkerth, R.D.4
Iafrate, A.J.5
Shen, Y.6
Xin, W.7
Sims, K.8
Hu, G.F.9
-
11
-
-
38649105800
-
Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis
-
Gellera C, Colombrita C, Ticozzi N, Castellotti B, Bragato C, Ratti A, Taroni F, Silani V. Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis. Neurogenetics 2008; 9: 33-40
-
(2008)
Neurogenetics
, vol.9
, pp. 33-40
-
-
Gellera, C.1
Colombrita, C.2
Ticozzi, N.3
Castellotti, B.4
Bragato, C.5
Ratti, A.6
Taroni, F.7
Silani, V.8
-
12
-
-
34249940140
-
Variations in the coding and regulatory sequences of the angiogenin (ANG) gene are not associated to ALS (amyotrophic lateral sclerosis) in the Italian population
-
Corrado L, Battistini S, Penco S, Bergamaschi L, Testa L, Ricci C, Giannini F, Greco G, Patrosso MC, Pileggi S, Causarano R, Mazzini L, Momigliano-Richiardi P, D'Alfonso S. Variations in the coding and regulatory sequences of the angiogenin (ANG) gene are not associated to ALS (amyotrophic lateral sclerosis) in the Italian population. J Neurol Sci 2007; 258: 123-127
-
(2007)
J Neurol Sci
, vol.258
, pp. 123-127
-
-
Corrado, L.1
Battistini, S.2
Penco, S.3
Bergamaschi, L.4
Testa, L.5
Ricci, C.6
Giannini, F.7
Greco, G.8
Patrosso, M.C.9
Pileggi, S.10
Causarano, R.11
Mazzini, L.12
Momigliano-Richiardi, P.13
D'Alfonso, S.14
-
13
-
-
59649128986
-
A case of ALS-FTD in a large FALS pedigree with a K17I ANG mutation
-
van Es MA, Diekstra FP, Veldink JH, Baas F, Bourque PR, Schelhaas HJ, Strengman E, Hennekam EA, Lindhout D, Ophoff RA, van den Berg LH. A case of ALS-FTD in a large FALS pedigree with a K17I ANG mutation. Neurology 2009; 72: 287-288
-
(2009)
Neurology
, vol.72
, pp. 287-288
-
-
Van Es, M.A.1
Diekstra, F.P.2
Veldink, J.H.3
Baas, F.4
Bourque, P.R.5
Schelhaas, H.J.6
Strengman, E.7
Hennekam, E.A.8
Lindhout, D.9
Van Den Ophoff, R.A.10
Berg, L.H.11
-
14
-
-
37549038185
-
Absence of angiogenic genes modification in Italian ALS patients
-
Del Bo R, Scarlato M, Ghezzi S, Martinelli-Boneschi F, Corti S, Locatelli F, Santoro D, Prelle A, Briani C, Nardini M, Siciliano G, Mancuso M, Murri L, Bresolin N, Comi GP. Absence of angiogenic genes modification in Italian ALS patients. Neurobiol Aging 2008; 29: 314-316
-
(2008)
Neurobiol Aging
, vol.29
, pp. 314-316
-
-
Del Bo, R.1
Scarlato, M.2
Ghezzi, S.3
Martinelli-Boneschi, F.4
Corti, S.5
Locatelli, F.6
Santoro, D.7
Prelle, A.8
Briani, C.9
Nardini, M.10
Siciliano, G.11
Mancuso, M.12
Murri, L.13
Bresolin, N.14
Comi, G.P.15
-
15
-
-
38649097173
-
A novel Angiogenin gene mutation in a sporadic patient with amyotrophic lateral sclerosis from southern Italy
-
Conforti FL, Sprovieri T, Mazzei R, Ungaro C, La Bella V, Tessitore A, Patitucci A, Magariello A, Gabriele AL, Tedeschi G, Simone IL, Majorana G, Valentino P, Condino F, Bono F, Monsurro MR, Muglia M, Quattrone A. A novel Angiogenin gene mutation in a sporadic patient with amyotrophic lateral sclerosis from southern Italy. Neuromuscul Disord 2008; 18: 68-70
-
(2008)
Neuromuscul Disord
, vol.18
, pp. 68-70
-
-
Conforti, F.L.1
Sprovieri, T.2
Mazzei, R.3
Ungaro, C.4
La Bella, V.5
Tessitore, A.6
Patitucci, A.7
Magariello, A.8
Gabriele, A.L.9
Tedeschi, G.10
Simone, I.L.11
Majorana, G.12
Valentino, P.13
Condino, F.14
Bono, F.15
Monsurro, M.R.16
Muglia, M.17
Quattrone, A.18
-
16
-
-
68449084458
-
Identification of novel angiogenin (ANG) gene missense variants in German patients with amyotrophic lateral sclerosis
-
Fernandez-Santiago R, Hoenig S, Lichtner P, Sperfeld AD, Sharma M, Berg D, Weichenrieder O, Illig T, Eger K, Meyer T, Anneser J, Munch 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
-
-
Fernandez-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
Munch, C.12
Zierz, S.13
Gasser, T.14
Ludolph, A.15
-
17
-
-
54049119245
-
Mutations of the ANG gene in French patients with sporadic amyotrophic lateral sclerosis
-
Paubel A, Violette J, Amy M, Praline J, Meininger V, Camu W, Corcia P, Andres CR, Vourc'h P. Mutations of the ANG gene in French patients with sporadic amyotrophic lateral sclerosis. Arch Neurol 2008; 65: 1333-1336
-
(2008)
Arch Neurol
, vol.65
, pp. 1333-1336
-
-
Paubel, A.1
Violette, J.2
Amy, M.3
Praline, J.4
Meininger, V.5
Camu, W.6
Corcia, P.7
Andres, C.R.8
Vourc'h, P.9
-
18
-
-
84255163614
-
Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis
-
van Es MA, Schelhaas HJ, van Vught PW, Ticozzi N, Andersen PM, Groen EJ, Schulte C, Blauw HM, Koppers M, Diekstra F, Fumoto K, LeClerc AL, Keagle P, Bloem BR, Scheffer H, van Nuenen BF, van Blitterswijk M, van Rheenen W, Wills AM, Lowe P, Hu GF, Yu W, Kishikawa H, Wu D, Folkerth RD, Mariani C, Goldwurm S, Pezzoli G, Van Damme P, Lemmens R, Dahlberg C, Birve A, Fernandez-Santiago R, Waibel S, Klein C, Weber M, van der Kooi AJ, de Visser M, Verbaan D, van Hilten JJ, Heutink P, Hennekam EA, Cuppen E, Berg D, Brown RH Jr, Silani V, Gasser T, Ludolph AC, Robberecht W, Ophoff RA, Veldink JH, Pasterkamp RJ, de Bakker PI, Landers JE, van de Warrenburg BP, van den Berg LH. Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis. Ann Neurol 2011; 70: 964-973
-
(2011)
Ann Neurol
, vol.70
, pp. 964-973
-
-
van Es, M.A.1
van Schelhaas, H.J.2
Vught, P.W.3
Ticozzi, N.4
Andersen, P.M.5
Groen, E.J.6
Schulte, C.7
Blauw, H.M.8
Koppers, M.9
Diekstra, F.10
Fumoto, K.11
LeClerc, A.L.12
Keagle, P.13
Bloem, B.R.14
van Scheffer, H.15
van Nuenen, B.F.16
van Blitterswijk, M.17
Rheenen, W.18
Wills, A.M.19
Lowe, P.20
Hu, G.F.21
Yu, W.22
Kishikawa, H.23
Wu, D.24
Folkerth, R.D.25
Mariani, C.26
Goldwurm, S.27
Pezzoli, G.28
Van Damme, P.29
Lemmens, R.30
Dahlberg, C.31
Birve, A.32
Fernandez-Santiago, R.33
Waibel, S.34
Klein, C.35
Van Der Weber, M.36
De Kooi, A.J.37
Visser, M.38
van Verbaan, D.39
Hilten, J.J.40
Heutink, P.41
Hennekam, E.A.42
Cuppen, E.43
Berg, D.44
Brown Jr, R.H.45
Silani, V.46
Gasser, T.47
Ludolph, A.C.48
Robberecht, W.49
Ophoff, R.A.50
Veldink, J.H.51
De Pasterkamp, R.J.52
Bakker, P.I.53
Van De Landers, J.E.54
Van Den Warrenburg, B.P.55
Berg, L.H.56
more..
-
19
-
-
54349107187
-
Targeting angiogenin in therapy of amyotropic lateral sclerosis
-
Kishikawa H, Wu D, Hu GF. Targeting angiogenin in therapy of amyotropic lateral sclerosis. Expert Opin Ther Targets 2008; 12: 1229-1242
-
(2008)
Expert Opin Ther Targets
, vol.12
, pp. 1229-1242
-
-
Kishikawa, H.1
Wu, D.2
Hu, G.F.3
-
20
-
-
13944277097
-
Angiogenin is translocated to the nucleus of HeLa cells and is involved in ribosomal RNA transcription and cell proliferation
-
Tsuji T, Sun Y, Kishimoto K, Olson KA, Liu S, Hirukawa S, Hu GF. Angiogenin is translocated to the nucleus of HeLa cells and is involved in ribosomal RNA transcription and cell proliferation. Cancer Res 2005; 65: 1352-1360
-
(2005)
Cancer Res
, vol.65
, pp. 1352-1360
-
-
Tsuji, T.1
Sun, Y.2
Kishimoto, K.3
Olson, K.A.4
Liu, S.5
Hirukawa, S.6
Hu, G.F.7
-
21
-
-
65249129859
-
Angiogenin cleaves tRNA and promotes stress-induced translational repression
-
Yamasaki S, Ivanov P, Hu GF, Anderson P. Angiogenin cleaves tRNA and promotes stress-induced translational repression. J Cell Biol 2009; 185: 35-42
-
(2009)
J Cell Biol
, vol.185
, pp. 35-42
-
-
Yamasaki, S.1
Ivanov, P.2
Hu, G.F.3
Anderson, P.4
-
22
-
-
58149373936
-
Control of motoneuron survival by angiogenin
-
Kieran D, Sebastia J, Greenway MJ, King MA, Connaughton D, Concannon CG, Fenner B, Hardiman O, Prehn JH. Control of motoneuron survival by angiogenin. J Neurosci 2008; 28: 14056-14061
-
(2008)
J Neurosci
, vol.28
, pp. 14056-14061
-
-
Kieran, D.1
Sebastia, J.2
Greenway, M.J.3
King, M.A.4
Connaughton, D.5
Concannon, C.G.6
Fenner, B.7
Hardiman, O.8
Prehn, J.H.9
-
23
-
-
69949186725
-
Accumulation of TDP-43 and alpha-actin in an amyotrophic lateral sclerosis patient with the K17I ANG mutation
-
Seilhean D, Cazeneuve C, Thuries V, Russaouen O, Millecamps S, Salachas F, Meininger V, Leguern E, Duyckaerts C. Accumulation of TDP-43 and alpha-actin in an amyotrophic lateral sclerosis patient with the K17I ANG mutation. Acta Neuropathol (Berl) 2009; 118: 561-573
-
(2009)
Acta Neuropathol (Berl)
, vol.118
, pp. 561-573
-
-
Seilhean, D.1
Cazeneuve, C.2
Thuries, V.3
Russaouen, O.4
Millecamps, S.5
Salachas, F.6
Meininger, V.7
Leguern, E.8
Duyckaerts, C.9
-
24
-
-
0043122919
-
SIFT: predicting amino acid changes that affect protein function
-
Ng PC, Henikoff S. SIFT: predicting amino acid changes that affect protein function. Nucleic Acids Res 2003; 31: 3812-3814
-
(2003)
Nucleic Acids Res
, vol.31
, pp. 3812-3814
-
-
Ng, P.C.1
Henikoff, S.2
-
25
-
-
84857054634
-
Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72
-
Cooper-Knock J, Hewitt C, Highley JR, Brockington A, Milano A, Man S, Martindale J, Hartley J, Walsh T, Gelsthorpe C, Baxter L, Forster G, Fox M, Bury J, Mok K, McDermott CJ, Traynor BJ, Kirby J, Wharton SB, Ince PG, Hardy J, Shaw PJ. Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72. Brain 2012; 135: 751-764
-
(2012)
Brain
, vol.135
, pp. 751-764
-
-
Cooper-Knock, J.1
Hewitt, C.2
Highley, J.R.3
Brockington, A.4
Milano, A.5
Man, S.6
Martindale, J.7
Hartley, J.8
Walsh, T.9
Gelsthorpe, C.10
Baxter, L.11
Forster, G.12
Fox, M.13
Bury, J.14
Mok, K.15
McDermott, C.J.16
Traynor, B.J.17
Kirby, J.18
Wharton, S.B.19
Ince, P.G.20
Hardy, J.21
Shaw, P.J.22
more..
-
26
-
-
84866600630
-
An MND/ALS phenotype associated with C9orf72 repeat expansion: abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline
-
Troakes C, Maekawa S, Wijesekera L, Rogelj B, Siklos L, Bell C, Smith B, Newhouse S, Vance C, Johnson L, Hortobagyi T, Shatunov A, Al-Chalabi A, Leigh N, Shaw CE, King A, Al-Sarraj S. An MND/ALS phenotype associated with C9orf72 repeat expansion: abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline. Neuropathology 2011; 32: 505-514
-
(2011)
Neuropathology
, vol.32
, pp. 505-514
-
-
Troakes, C.1
Maekawa, S.2
Wijesekera, L.3
Rogelj, B.4
Siklos, L.5
Bell, C.6
Smith, B.7
Newhouse, S.8
Vance, C.9
Johnson, L.10
Hortobagyi, T.11
Shatunov, A.12
Al-Chalabi, A.13
Leigh, N.14
Shaw, C.E.15
King, A.16
Al-Sarraj, S.17
-
27
-
-
82355180826
-
p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS
-
Al-Sarraj S, King A, Troakes C, Smith B, Maekawa S, Bodi I, Rogelj B, Al-Chalabi A, Hortobagyi T, Shaw CE. p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS. Acta Neuropathol (Berl) 2011; 122: 691-702
-
(2011)
Acta Neuropathol (Berl)
, vol.122
, pp. 691-702
-
-
Al-Sarraj, S.1
King, A.2
Troakes, C.3
Smith, B.4
Maekawa, S.5
Bodi, I.6
Rogelj, B.7
Al-Chalabi, A.8
Hortobagyi, T.9
Shaw, C.E.10
-
28
-
-
82355180849
-
Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72
-
Murray ME, Dejesus-Hernandez M, Rutherford NJ, Baker M, Duara R, Graff-Radford NR, Wszolek ZK, Ferman TJ, Josephs KA, Boylan KB, Rademakers R, Dickson DW. Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72. Acta Neuropathol (Berl) 2011; 122: 673-690
-
(2011)
Acta Neuropathol (Berl)
, vol.122
, pp. 673-690
-
-
Murray, M.E.1
Dejesus-Hernandez, M.2
Rutherford, N.J.3
Baker, M.4
Duara, R.5
Graff-Radford, N.R.6
Wszolek, Z.K.7
Ferman, T.J.8
Josephs, K.A.9
Boylan, K.B.10
Rademakers, R.11
Dickson, D.W.12
-
29
-
-
79959763071
-
Keeping up with genetic discoveries in amyotrophic lateral sclerosis: the ALSoD and ALSGene databases
-
Lill CM, Abel O, Bertram L, Al-Chalabi A. Keeping up with genetic discoveries in amyotrophic lateral sclerosis: the ALSoD and ALSGene databases. Amyotroph Lateral Scler 2011; 12: 238-249
-
(2011)
Amyotroph Lateral Scler
, vol.12
, pp. 238-249
-
-
Lill, C.M.1
Abel, O.2
Bertram, L.3
Al-Chalabi, A.4
-
30
-
-
3242736666
-
Amyotrophic lateral sclerosis with neuronal intranuclear protein inclusions
-
Seilhean D, Takahashi J, El Hachimi KH, Fujigasaki H, Lebre AS, Biancalana V, Durr A, Salachas F, Hogenhuis J, de The H, Hauw JJ, Meininger V, Brice A, Duyckaerts C. Amyotrophic lateral sclerosis with neuronal intranuclear protein inclusions. Acta Neuropathol (Berl) 2004; 108: 81-87
-
(2004)
Acta Neuropathol (Berl)
, vol.108
, pp. 81-87
-
-
Seilhean, D.1
Takahashi, J.2
El Hachimi, K.H.3
Fujigasaki, H.4
Lebre, A.S.5
Biancalana, V.6
Durr, A.7
Salachas, F.8
de Hogenhuis, J.9
The, H.10
Hauw, J.J.11
Meininger, V.12
Brice, A.13
Duyckaerts, C.14
-
31
-
-
1842789629
-
Expression of ubiquitin-binding protein p62 in ubiquitin-immunoreactive intraneuronal inclusions in amyotrophic lateral sclerosis with dementia: analysis of five autopsy cases with broad clinicopathological spectrum
-
Nakano T, Nakaso K, Nakashima K, Ohama E. Expression of ubiquitin-binding protein p62 in ubiquitin-immunoreactive intraneuronal inclusions in amyotrophic lateral sclerosis with dementia: analysis of five autopsy cases with broad clinicopathological spectrum. Acta Neuropathol (Berl) 2004; 107: 359-364
-
(2004)
Acta Neuropathol (Berl)
, vol.107
, pp. 359-364
-
-
Nakano, T.1
Nakaso, K.2
Nakashima, K.3
Ohama, E.4
-
32
-
-
0032713608
-
Accumulation of neurofilaments and SOD1-immunoreactive products in a patient with familial amyotrophic lateral sclerosis with I113T SOD1 mutation
-
Kokubo Y, Kuzuhara S, Narita Y, Kikugawa K, Nakano R, Inuzuka T, Tsuji S, Watanabe M, Miyazaki T, Murayama S, Ihara Y. Accumulation of neurofilaments and SOD1-immunoreactive products in a patient with familial amyotrophic lateral sclerosis with I113T SOD1 mutation. Arch Neurol 1999; 56: 1506-1508
-
(1999)
Arch Neurol
, vol.56
, pp. 1506-1508
-
-
Kokubo, Y.1
Kuzuhara, S.2
Narita, Y.3
Kikugawa, K.4
Nakano, R.5
Inuzuka, T.6
Tsuji, S.7
Watanabe, M.8
Miyazaki, T.9
Murayama, S.10
Ihara, Y.11
-
33
-
-
77952107930
-
Multiple system degeneration with basophilic inclusions in Japanese ALS patients with FUS mutation
-
Tateishi T, Hokonohara T, Yamasaki R, Miura S, Kikuchi H, Iwaki A, Tashiro H, Furuya H, Nagara Y, Ohyagi Y, Nukina N, Iwaki T, Fukumaki Y, Kira J. Multiple system degeneration with basophilic inclusions in Japanese ALS patients with FUS mutation. Acta Neuropathol (Berl) 2010; 119: 355-364
-
(2010)
Acta Neuropathol (Berl)
, vol.119
, pp. 355-364
-
-
Tateishi, T.1
Hokonohara, T.2
Yamasaki, R.3
Miura, S.4
Kikuchi, H.5
Iwaki, A.6
Tashiro, H.7
Furuya, H.8
Nagara, Y.9
Ohyagi, Y.10
Nukina, N.11
Iwaki, T.12
Fukumaki, Y.13
Kira, J.14
-
34
-
-
33749632259
-
Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
-
Neumann M, Sampathu DM, Kwong LK, Truax AC, Micsenyi MC, Chou TT, Bruce J, Schuck T, Grossman M, Clark CM, McCluskey LF, Miller BL, Masliah E, Mackenzie IR, Feldman H, Feiden W, Kretzschmar HA, Trojanowski JQ, Lee VM. Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 2006; 314: 130-133
-
(2006)
Science
, vol.314
, pp. 130-133
-
-
Neumann, M.1
Sampathu, D.M.2
Kwong, L.K.3
Truax, A.C.4
Micsenyi, M.C.5
Chou, T.T.6
Bruce, J.7
Schuck, T.8
Grossman, M.9
Clark, C.M.10
McCluskey, L.F.11
Miller, B.L.12
Masliah, E.13
Mackenzie, I.R.14
Feldman, H.15
Feiden, W.16
Kretzschmar, H.A.17
Trojanowski, J.Q.18
Lee, V.M.19
-
35
-
-
34249946466
-
Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations
-
Mackenzie IR, Bigio EH, Ince PG, Geser F, Neumann M, Cairns NJ, Kwong LK, Forman MS, Ravits J, Stewart H, Eisen A, McClusky L, Kretzschmar HA, Monoranu CM, Highley JR, Kirby J, Siddique T, Shaw PJ, Lee VM, Trojanowski JQ. Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations. Ann Neurol 2007; 61: 427-434
-
(2007)
Ann Neurol
, vol.61
, pp. 427-434
-
-
Mackenzie, I.R.1
Bigio, E.H.2
Ince, P.G.3
Geser, F.4
Neumann, M.5
Cairns, N.J.6
Kwong, L.K.7
Forman, M.S.8
Ravits, J.9
Stewart, H.10
Eisen, A.11
McClusky, L.12
Kretzschmar, H.A.13
Monoranu, C.M.14
Highley, J.R.15
Kirby, J.16
Siddique, T.17
Shaw, P.J.18
Lee, V.M.19
Trojanowski, J.Q.20
more..
-
36
-
-
77950902239
-
Novel FUS mutations and pathology in familial and sporadic amyotrophic lateral sclerosis
-
Hewitt C, Kirby J, Highley JR, Hartley J, Hibberd R, Hollinger H, Williams T, Ince PG, McDermott CJ, Shaw PJ. Novel FUS 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.4
Hibberd, R.5
Hollinger, H.6
Williams, T.7
Ince, P.G.8
McDermott, C.J.9
Shaw, P.J.10
-
37
-
-
0141987860
-
The ubiquitin proteasome system in neurodegenerative diseases: sometimes the chicken, sometimes the egg
-
Ciechanover A, Brundin P. The ubiquitin proteasome system in neurodegenerative diseases: sometimes the chicken, sometimes the egg. Neuron 2003; 40: 427-446
-
(2003)
Neuron
, vol.40
, pp. 427-446
-
-
Ciechanover, A.1
Brundin, P.2
-
38
-
-
77649269011
-
TDP-43 transgenic mice develop spastic paralysis and neuronal inclusions characteristic of ALS and frontotemporal lobar degeneration
-
Wils H, Kleinberger G, Janssens J, Pereson S, Joris G, Cuijt I, Smits V, Ceuterick-de Groote C, Van Broeckhoven C, Kumar-Singh S. TDP-43 transgenic mice develop spastic paralysis and neuronal inclusions characteristic of ALS and frontotemporal lobar degeneration. Proc Natl Acad Sci U S A 2010; 107: 3858-3863
-
(2010)
Proc Natl Acad Sci U S A
, vol.107
, pp. 3858-3863
-
-
Wils, H.1
Kleinberger, G.2
Janssens, J.3
Pereson, S.4
Joris, G.5
Cuijt, I.6
Smits, V.7
Ceuterick-de Groote, C.8
Van Broeckhoven, C.9
Kumar-Singh, S.10
-
39
-
-
35448983646
-
Characterization of human angiogenin variants implicated in amyotrophic lateral sclerosis
-
Crabtree B, Thiyagarajan N, Prior SH, Wilson P, Iyer S, Ferns T, Shapiro R, Brew K, Subramanian V, Acharya KR. Characterization of human angiogenin variants implicated in amyotrophic lateral sclerosis. Biochemistry 2007; 46: 11810-11818
-
(2007)
Biochemistry
, vol.46
, pp. 11810-11818
-
-
Crabtree, B.1
Thiyagarajan, N.2
Prior, S.H.3
Wilson, P.4
Iyer, S.5
Ferns, T.6
Shapiro, R.7
Brew, K.8
Subramanian, V.9
Acharya, K.R.10
-
40
-
-
37549019664
-
Human angiogenin is a neuroprotective factor and amyotrophic lateral sclerosis associated angiogenin variants affect neurite extension/pathfinding and survival of motor neurons
-
Subramanian V, Crabtree B, Acharya KR. Human angiogenin is a neuroprotective factor and amyotrophic lateral sclerosis associated angiogenin variants affect neurite extension/pathfinding and survival of motor neurons. Hum Mol Genet 2008; 17: 130-149
-
(2008)
Hum Mol Genet
, vol.17
, pp. 130-149
-
-
Subramanian, V.1
Crabtree, B.2
Acharya, K.R.3
-
41
-
-
78651282742
-
A neuroprotective role for angiogenin in models of Parkinson's disease
-
Steidinger TU, Standaert DG, Yacoubian TA. A neuroprotective role for angiogenin in models of Parkinson's disease. J Neurochem 2011; 116: 334-341
-
(2011)
J Neurochem
, vol.116
, pp. 334-341
-
-
Steidinger, T.U.1
Standaert, D.G.2
Yacoubian, T.A.3
-
42
-
-
79551690481
-
Phosphatase and tensin homologue/protein kinase B pathway linked to motor neuron survival in human superoxide dismutase 1-related amyotrophic lateral sclerosis
-
Kirby J, Ning K, Ferraiuolo L, Heath PR, Ismail A, Kuo SW, Valori CF, Cox L, Sharrack B, Wharton SB, Ince PG, Shaw PJ, Azzouz M. Phosphatase and tensin homologue/protein kinase B pathway linked to motor neuron survival in human superoxide dismutase 1-related amyotrophic lateral sclerosis. Brain 2011; 134: 506-517
-
(2011)
Brain
, vol.134
, pp. 506-517
-
-
Kirby, J.1
Ning, K.2
Ferraiuolo, L.3
Heath, P.R.4
Ismail, A.5
Kuo, S.W.6
Valori, C.F.7
Cox, L.8
Sharrack, B.9
Wharton, S.B.10
Ince, P.G.11
Shaw, P.J.12
Azzouz, M.13
-
43
-
-
62149141328
-
Rethinking ALS: the FUS about TDP-43
-
Lagier-Tourenne C, Cleveland DW. 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
|