-
1
-
-
84861156712
-
NIPA1 polyalanine repeat expansions are associated with amyotrophic lateral sclerosis
-
Blauw H.M., van Rheenen W., Koppers M., Van Damme P., Waibel S., Lemmens R., van Vught P.W., Meyer T., Schulte C., Gasser T., Cuppen E., Pasterkamp R.J., Robberecht W., Ludolph A.C., Veldink J.H., van den Berg L.H. NIPA1 polyalanine repeat expansions are associated with amyotrophic lateral sclerosis. Hum. Mol. Genet. 2012, 21:2497-2502.
-
(2012)
Hum. Mol. Genet.
, vol.21
, pp. 2497-2502
-
-
Blauw, H.M.1
van Rheenen, W.2
Koppers, M.3
Van Damme, P.4
Waibel, S.5
Lemmens, R.6
van Vught, P.W.7
Meyer, T.8
Schulte, C.9
Gasser, T.10
Cuppen, E.11
Pasterkamp, R.J.12
Robberecht, W.13
Ludolph, A.C.14
Veldink, J.H.15
van den Berg, L.H.16
-
2
-
-
84871347709
-
Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis
-
Conforti F.L., Spataro R., Sproviero W., Mazzei R., Cavalcanti F., Condino F., Simone I.L., Logroscino G., Patitucci A., Magariello A., Muglia M., Rodolico C., Valentino P., Bono F., Colletti T., Monsurro M.R., Gambardella A., La Bella V. Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis. Neurology 2012, 79:2315-2320.
-
(2012)
Neurology
, vol.79
, pp. 2315-2320
-
-
Conforti, F.L.1
Spataro, R.2
Sproviero, W.3
Mazzei, R.4
Cavalcanti, F.5
Condino, F.6
Simone, I.L.7
Logroscino, G.8
Patitucci, A.9
Magariello, A.10
Muglia, M.11
Rodolico, C.12
Valentino, P.13
Bono, F.14
Colletti, T.15
Monsurro, M.R.16
Gambardella, A.17
La Bella, V.18
-
4
-
-
0033816249
-
Spinocerebellar ataxia type 8: clinical features in a large family
-
Day J.W., Schut L.J., Moseley M.L., Durand A.C., Ranum L.P. Spinocerebellar ataxia type 8: clinical features in a large family. Neurology 2000, 55:649-657.
-
(2000)
Neurology
, vol.55
, pp. 649-657
-
-
Day, J.W.1
Schut, L.J.2
Moseley, M.L.3
Durand, A.C.4
Ranum, L.P.5
-
5
-
-
80054832080
-
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS
-
DeJesus-Hernandez M., Mackenzie I.R., Boeve B.F., Boxer A.L., Baker M., Rutherford N.J., Nicholson A.M., Finch N.A., Flynn H., Adamson J., Kouri N., Wojtas A., Sengdy P., Hsiung G.Y., Karydas A., Seeley W.W., Josephs K.A., Coppola G., Geschwind D.H., Wszolek Z.K., Feldman H., Knopman D.S., Petersen R.C., Miller B.L., Dickson D.W., Boylan K.B., Graff-Radford N.R., 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..
-
6
-
-
77956155218
-
Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS
-
Elden A.C., Kim H.J., Hart M.P., Chen-Plotkin A.S., Johnson B.S., Fang X., Armakola M., Geser F., Greene R., Lu M.M., Padmanabhan A., Clay-Falcone D., McCluskey L., Elman L., Juhr D., Gruber P.J., Rub U., Auburger G., Trojanowski J.Q., Lee V.M., Van Deerlin V.M., Bonini N.M., Gitler A.D. Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS. Nature 2010, 466:1069-1075.
-
(2010)
Nature
, vol.466
, pp. 1069-1075
-
-
Elden, A.C.1
Kim, H.J.2
Hart, M.P.3
Chen-Plotkin, A.S.4
Johnson, B.S.5
Fang, X.6
Armakola, M.7
Geser, F.8
Greene, R.9
Lu, M.M.10
Padmanabhan, A.11
Clay-Falcone, D.12
McCluskey, L.13
Elman, L.14
Juhr, D.15
Gruber, P.J.16
Rub, U.17
Auburger, G.18
Trojanowski, J.Q.19
Lee, V.M.20
Van Deerlin, V.M.21
Bonini, N.M.22
Gitler, A.D.23
more..
-
7
-
-
79959636879
-
Amyotrophic lateral sclerosis and spinocerebellar ataxia 2
-
Fischbeck K.H., Pulst S.M. Amyotrophic lateral sclerosis and spinocerebellar ataxia 2. Neurology 2011, 76:2050-2051.
-
(2011)
Neurology
, vol.76
, pp. 2050-2051
-
-
Fischbeck, K.H.1
Pulst, S.M.2
-
8
-
-
84860608331
-
'Costa da Morte' ataxia is spinocerebellar ataxia 36: clinical and genetic characterization
-
Garcia-Murias M., Quintans B., Arias M., Seixas A.I., Cacheiro P., Tarrio R., Pardo J., Millan M.J., Arias-Rivas S., Blanco-Arias P., Dapena D., Moreira R., Rodriguez-Trelles F., Sequeiros J., Carracedo A., Silveira I., Sobrido M.J. 'Costa da Morte' ataxia is spinocerebellar ataxia 36: clinical and genetic characterization. Brain 2012, 135:1423-1435.
-
(2012)
Brain
, vol.135
, pp. 1423-1435
-
-
Garcia-Murias, M.1
Quintans, B.2
Arias, M.3
Seixas, A.I.4
Cacheiro, P.5
Tarrio, R.6
Pardo, J.7
Millan, M.J.8
Arias-Rivas, S.9
Blanco-Arias, P.10
Dapena, D.11
Moreira, R.12
Rodriguez-Trelles, F.13
Sequeiros, J.14
Carracedo, A.15
Silveira, I.16
Sobrido, M.J.17
-
9
-
-
84861891366
-
CGG-repeat expansion in FMR1 is not associated with amyotrophic lateral sclerosis
-
1852.e1851-1852.e1853
-
Groen E.J., van Rheenen W., Koppers M., van Doormaal P.T., Vlam L., Diekstra F.P., Dooijes D., Pasterkamp R.J., van den Berg L.H., Veldink J.H. CGG-repeat expansion in FMR1 is not associated with amyotrophic lateral sclerosis. Neurobiol. Aging 2012, 33. 1852.e1851-1852.e1853.
-
(2012)
Neurobiol. Aging
, vol.33
-
-
Groen, E.J.1
van Rheenen, W.2
Koppers, M.3
van Doormaal, P.T.4
Vlam, L.5
Diekstra, F.P.6
Dooijes, D.7
Pasterkamp, R.J.8
van den Berg, L.H.9
Veldink, J.H.10
-
10
-
-
79959652226
-
Evaluating the prevalence of polyglutamine repeat expansions in amyotrophic lateral sclerosis
-
Lee T., Li Y.R., Chesi A., Hart M.P., Ramos D., Jethava N., Hosangadi D., Epstein J., Hodges B., Bonini N.M., Gitler A.D. Evaluating the prevalence of polyglutamine repeat expansions in amyotrophic lateral sclerosis. Neurology 2011, 76:2062-2065.
-
(2011)
Neurology
, vol.76
, pp. 2062-2065
-
-
Lee, T.1
Li, Y.R.2
Chesi, A.3
Hart, M.P.4
Ramos, D.5
Jethava, N.6
Hosangadi, D.7
Epstein, J.8
Hodges, B.9
Bonini, N.M.10
Gitler, A.D.11
-
11
-
-
77953536158
-
Roles of trinucleotide-repeat RNA in neurological disease and degeneration
-
Li L.B., Bonini N.M. Roles of trinucleotide-repeat RNA in neurological disease and degeneration. Trends Neurosci. 2010, 33:292-298.
-
(2010)
Trends Neurosci.
, vol.33
, pp. 292-298
-
-
Li, L.B.1
Bonini, N.M.2
-
12
-
-
84881490873
-
Converging Mechanisms in ALS and FTD: Disrupted RNA and Protein Homeostasis
-
Ling S.C., Polymenidou M., Cleveland D.W. Converging Mechanisms in ALS and FTD: Disrupted RNA and Protein Homeostasis. Neuron 2013, 79:416-438.
-
(2013)
Neuron
, vol.79
, pp. 416-438
-
-
Ling, S.C.1
Polymenidou, M.2
Cleveland, D.W.3
-
14
-
-
80054837386
-
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
-
Renton A.E., Majounie E., Waite A., Simon-Sanchez J., Rollinson S., Gibbs J.R., Schymick J.C., Laaksovirta H., van Swieten J.C., Myllykangas L., Kalimo H., Paetau A., Abramzon Y., Remes A.M., Kaganovich A., Scholz S.W., Duckworth J., Ding J., Harmer D.W., Hernandez D.G., Johnson J.O., Mok K., Ryten M., Trabzuni D., Guerreiro R.J., Orrell R.W., Neal J., Murray A., Pearson J., Jansen I.E., Sondervan D., Seelaar H., Blake D., Young K., Halliwell N., Callister J.B., Toulson G., Richardson A., Gerhard A., Snowden J., Mann D., Neary D., Nalls M.A., Peuralinna T., Jansson L., Isoviita V.M., Kaivorinne A.L., 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 J.D., Sendtner M., Drepper C., Eichler E.E., Alkan C., Abdullaev Z., Pack S.D., Dutra A., Pak E., Hardy J., Singleton A., Williams N.M., Heutink P., Pickering-Brown S., Morris H.R., Tienari P.J., Traynor B.J. 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..
-
15
-
-
77950529265
-
RNA-mediated neurodegeneration in repeat expansion disorders
-
Todd P.K., Paulson H.L. RNA-mediated neurodegeneration in repeat expansion disorders. Ann. Neurol. 2010, 67:291-300.
-
(2010)
Ann. Neurol.
, vol.67
, pp. 291-300
-
-
Todd, P.K.1
Paulson, H.L.2
|