-
1
-
-
84892653998
-
Neuropathological features of Japanese familial amyotrophic lateral sclerosis with p.N352S mutation in TARDBP
-
doi: 10.1111/nan.12090
-
Homma T, Nagaoka U, Kawata A, Mochizuki Y, Kawakami H, Maruyama H, Matsubara S, Komori T. Neuropathological features of Japanese familial amyotrophic lateral sclerosis with p.N352S mutation in TARDBP. Neuropathol Appl Neurobiol 2013. doi: 10.1111/nan.12090
-
(2013)
Neuropathol Appl Neurobiol
-
-
Homma, T.1
Nagaoka, U.2
Kawata, A.3
Mochizuki, Y.4
Kawakami, H.5
Maruyama, H.6
Matsubara, S.7
Komori, T.8
-
2
-
-
84865071988
-
Evidence for an oligogenic basis of amyotrophic lateral sclerosis
-
van Blitterswijk M, van Es MA, Hennekam EA, Dooijes D, van Rheenen W, Medic J, Bourque PR, Schelhaas HJ, van der Kooi AJ, de Visser M, de Bakker PI, Veldink JH, van den Berg LH. Evidence for an oligogenic basis of amyotrophic lateral sclerosis. Hum Mol Genet 2012; 21: 3776-3784
-
(2012)
Hum Mol Genet
, vol.21
, pp. 3776-3784
-
-
van Blitterswijk, M.1
van Es, M.A.2
Hennekam, E.A.3
Dooijes, D.4
van Rheenen, W.5
Medic, J.6
Bourque, P.R.7
Schelhaas, H.J.8
van der Kooi, A.J.9
de Visser, M.10
de Bakker, P.I.11
Veldink, J.H.12
van den Berg, L.H.13
-
3
-
-
84869102685
-
Genetic overlap between apparently sporadic motor neuron diseases
-
van Blitterswijk M, Vlam L, van Es MA, van der Pol WL, Hennekam EA, Dooijes D, Schelhaas HJ, van der Kooi AJ, de Visser M, Veldink JH, van den Berg LH. Genetic overlap between apparently sporadic motor neuron diseases. PLoS ONE 2012; 7: e48983
-
(2012)
PLoS ONE
, vol.7
-
-
van Blitterswijk, M.1
Vlam, L.2
van Es, M.A.3
van der Pol, W.L.4
Hennekam, E.A.5
Dooijes, D.6
Schelhaas, H.J.7
van der Kooi, A.J.8
de Visser, M.9
Veldink, J.H.10
van den Berg, L.H.11
-
4
-
-
84866766416
-
VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient
-
2950e1-2950e4
-
van Blitterswijk M, van Es MA, Koppers M, van Rheenen W, Medic J, Schelhaas HJ, van der Kooi AJ, de Visser M, Veldink JH, van den Berg LH. VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient. Neurobiol Aging 2012; 33: 2950.e1-4
-
(2012)
Neurobiol Aging
, vol.33
-
-
van Blitterswijk, M.1
van Es, M.A.2
Koppers, M.3
van Rheenen, W.4
Medic, J.5
Schelhaas, H.J.6
van der Kooi, A.J.7
de Visser, M.8
Veldink, J.H.9
van den Berg, L.H.10
-
5
-
-
84888235194
-
C9ORF72 repeat expansions in cases with previously identified pathogenic mutations
-
van Blitterswijk M, Baker MC, Dejesus-Hernandez M, Ghidoni R, Benussi L, Finger E, Hsiung GY, Kelley BJ, Murray ME, Rutherford NJ, Brown PE, Ravenscroft T, Mullen B, Ash PE, Bieniek KF, Hatanpaa KJ, Karydas A, Wood EM, Coppola G, Bigio EH, Lippa C, Strong MJ, Beach TG, Knopman DS, Huey ED, Mesulam M, Bird T, White CL 3rd, Kertesz A, Geschwind DH, Van Deerlin VM, Petersen RC, Binetti G, Miller BL, Petrucelli L, Wszolek ZK, Boylan KB, Graff-Radford NR, Mackenzie IR, Boeve BF, Dickson DW, Rademakers R. C9ORF72 repeat expansions in cases with previously identified pathogenic mutations. Neurology 2013; 81: 1332-1341
-
(2013)
Neurology
, vol.81
, pp. 1332-1341
-
-
van Blitterswijk, M.1
Baker, M.C.2
Dejesus-Hernandez, M.3
Ghidoni, R.4
Benussi, L.5
Finger, E.6
Hsiung, G.Y.7
Kelley, B.J.8
Murray, M.E.9
Rutherford, N.J.10
Brown, P.E.11
Ravenscroft, T.12
Mullen, B.13
Ash, P.E.14
Bieniek, K.F.15
Hatanpaa, K.J.16
Karydas, A.17
Wood, E.M.18
Coppola, G.19
Bigio, E.H.20
Lippa, C.21
Strong, M.J.22
Beach, T.G.23
Knopman, D.S.24
Huey, E.D.25
Mesulam, M.26
Bird, T.27
White III, C.L.28
Kertesz, A.29
Geschwind, D.H.30
Van Deerlin, V.M.31
Petersen, R.C.32
Binetti, G.33
Miller, B.L.34
Petrucelli, L.35
Wszolek, Z.K.36
Boylan, K.B.37
Graff-Radford, N.R.38
Mackenzie, I.R.39
Boeve, B.F.40
Dickson, D.W.41
Rademakers, R.42
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
-
-
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
Laaksovirta, H.8
van 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..
-
8
-
-
84858622829
-
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
-
Majounie E, Renton AE, Mok K, Dopper EG, Waite A, Rollinson S, Chio A, Restagno G, Nicolaou N, Simon-Sanchez J, van Swieten JC, Abramzon Y, Johnson JO, Sendtner M, Pamphlett R, Orrell RW, Mead S, Sidle KC, Houlden H, Rohrer JD, Morrison KE, Pall H, Talbot K, Ansorge O, Hernandez DG, Arepalli S, Sabatelli M, Mora G, Corbo M, Giannini F, Calvo A, Englund E, Borghero G, Floris GL, Remes AM, Laaksovirta H, McCluskey L, Trojanowski JQ, Van Deerlin VM, Schellenberg GD, Nalls MA, Drory VE, Lu CS, Yeh TH, Ishiura H, Takahashi Y, Tsuji S, Le Ber I, Brice A, Drepper C, Williams N, Kirby J, Shaw P, Hardy J, Tienari PJ, Heutink P, Morris HR, Pickering-Brown S, Traynor BJ. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol 2012; 11: 323-330
-
(2012)
Lancet Neurol
, vol.11
, pp. 323-330
-
-
Majounie, E.1
Renton, A.E.2
Mok, K.3
Dopper, E.G.4
Waite, A.5
Rollinson, S.6
Chio, A.7
Restagno, G.8
Nicolaou, N.9
Simon-Sanchez, J.10
van Swieten, J.C.11
Abramzon, Y.12
Johnson, J.O.13
Sendtner, M.14
Pamphlett, R.15
Orrell, R.W.16
Mead, S.17
Sidle, K.C.18
Houlden, H.19
Rohrer, J.D.20
Morrison, K.E.21
Pall, H.22
Talbot, K.23
Ansorge, O.24
Hernandez, D.G.25
Arepalli, S.26
Sabatelli, M.27
Mora, G.28
Corbo, M.29
Giannini, F.30
Calvo, A.31
Englund, E.32
Borghero, G.33
Floris, G.L.34
Remes, A.M.35
Laaksovirta, H.36
McCluskey, L.37
Trojanowski, J.Q.38
Van Deerlin, V.M.39
Schellenberg, G.D.40
Nalls, M.A.41
Drory, V.E.42
Lu, C.S.43
Yeh, T.H.44
Ishiura, H.45
Takahashi, Y.46
Tsuji, S.47
Le Ber, I.48
Brice, A.49
Drepper, C.50
Williams, N.51
Kirby, J.52
Shaw, P.53
Hardy, J.54
Tienari, P.J.55
Heutink, P.56
Morris, H.R.57
Pickering-Brown, S.58
Traynor, B.J.59
more..
-
9
-
-
84875226784
-
Japanese amyotrophic lateral sclerosis patients with GGGGCC hexanucleotide repeat expansion in C9ORF72
-
Konno T, Shiga A, Tsujino A, Sugai A, Kato T, Kanai K, Yokoseki A, Eguchi H, Kuwabara S, Nishizawa M, Takahashi H, Onodera O. Japanese amyotrophic lateral sclerosis patients with GGGGCC hexanucleotide repeat expansion in C9ORF72. J Neurol Neurosurg Psychiatry 2013; 84: 398-401
-
(2013)
J Neurol Neurosurg Psychiatry
, vol.84
, pp. 398-401
-
-
Konno, T.1
Shiga, A.2
Tsujino, A.3
Sugai, A.4
Kato, T.5
Kanai, K.6
Yokoseki, A.7
Eguchi, H.8
Kuwabara, S.9
Nishizawa, M.10
Takahashi, H.11
Onodera, O.12
-
10
-
-
84864383816
-
Analysis of C9orf72 repeat expansion in 563 Japanese patients with amyotrophic lateral sclerosis
-
2527e11-2527e16
-
Ogaki K, Li Y, Atsuta N, Tomiyama H, Funayama M, Watanabe H, Nakamura R, Yoshino H, Yato S, Tamura A, Naito Y, Taniguchi A, Fujita K, Izumi Y, Kaji R, Hattori N, Sobue G. Analysis of C9orf72 repeat expansion in 563 Japanese patients with amyotrophic lateral sclerosis. Neurobiol Aging 2012; 33: 2527.e11-6
-
(2012)
Neurobiol Aging
, vol.33
-
-
Ogaki, K.1
Li, Y.2
Atsuta, N.3
Tomiyama, H.4
Funayama, M.5
Watanabe, H.6
Nakamura, R.7
Yoshino, H.8
Yato, S.9
Tamura, A.10
Naito, Y.11
Taniguchi, A.12
Fujita, K.13
Izumi, Y.14
Kaji, R.15
Hattori, N.16
Sobue, G.17
-
11
-
-
84866058216
-
C9ORF72 repeat expansion in amyotrophic lateral sclerosis in the Kii peninsula of Japan
-
Ishiura H, Takahashi Y, Mitsui J, Yoshida S, Kihira T, Kokubo Y, Kuzuhara S, Ranum LP, Tamaoki T, Ichikawa Y, Date H, Goto J, Tsuji S. C9ORF72 repeat expansion in amyotrophic lateral sclerosis in the Kii peninsula of Japan. Arch Neurol 2012; 69: 1154-1158
-
(2012)
Arch Neurol
, vol.69
, pp. 1154-1158
-
-
Ishiura, H.1
Takahashi, Y.2
Mitsui, J.3
Yoshida, S.4
Kihira, T.5
Kokubo, Y.6
Kuzuhara, S.7
Ranum, L.P.8
Tamaoki, T.9
Ichikawa, Y.10
Date, H.11
Goto, J.12
Tsuji, S.13
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