-
1
-
-
84905041572
-
Amitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement
-
Bannwarth S., Ait-El-Mkadem S., Chaussenot A., Genin E.C., Lacas-Gervais S., Fragaki K., Berg-Alonso L., Kageyama Y., Serre V., Moore D.G., Verschueren A., Rouzier C., Le Ber I., Auge G., Cochaud C., Lespinasse F., N'Guyen K., de Septenville A., Brice A., Yu-Wai-Man P., Sesaki H., Pouget J., Paquis-Flucklinger V. Amitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement. Brain 2014, 137(Pt 8):2329-2345.
-
(2014)
Brain
, vol.137
, pp. 2329-2345
-
-
Bannwarth, S.1
Ait-El-Mkadem, S.2
Chaussenot, A.3
Genin, E.C.4
Lacas-Gervais, S.5
Fragaki, K.6
Berg-Alonso, L.7
Kageyama, Y.8
Serre, V.9
Moore, D.G.10
Verschueren, A.11
Rouzier, C.12
Le Ber, I.13
Auge, G.14
Cochaud, C.15
Lespinasse, F.16
N'Guyen, K.17
de Septenville, A.18
Brice, A.19
Yu-Wai-Man, P.20
Sesaki, H.21
Pouget, J.22
Paquis-Flucklinger, V.23
more..
-
2
-
-
65649112431
-
TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration
-
Benajiba L., Le Ber I., Camuzat A., Lacoste M., Thomas-Anterion C., Couratier P., Legallic S., Salachas F., Hannequin D., Decousus M., Lacomblez L., Guedj E., Golfier V., Camu W., Dubois B., Campion D., Meininger V., Brice A. TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration. Ann. Neurol. 2009, 65:470-473.
-
(2009)
Ann. Neurol.
, vol.65
, pp. 470-473
-
-
Benajiba, L.1
Le Ber, I.2
Camuzat, A.3
Lacoste, M.4
Thomas-Anterion, C.5
Couratier, P.6
Legallic, S.7
Salachas, F.8
Hannequin, D.9
Decousus, M.10
Lacomblez, L.11
Guedj, E.12
Golfier, V.13
Camu, W.14
Dubois, B.15
Campion, D.16
Meininger, V.17
Brice, A.18
-
3
-
-
78650645588
-
FUS mutations in frontotemporal lobar degeneration with amyotrophic lateral sclerosis
-
Broustal O., Camuzat A., Guillot-Noel L., Guy N., Millecamps S., Deffond D., Lacomblez L., Golfier V., Hannequin D., Salachas F., Camu W., Didic M., Dubois B., Meininger V., Le Ber I., Brice A. FUS mutations in frontotemporal lobar degeneration with amyotrophic lateral sclerosis. J.Alzheimers Dis. 2010, 22:765-769.
-
(2010)
J.Alzheimers Dis.
, vol.22
, pp. 765-769
-
-
Broustal, O.1
Camuzat, A.2
Guillot-Noel, L.3
Guy, N.4
Millecamps, S.5
Deffond, D.6
Lacomblez, L.7
Golfier, V.8
Hannequin, D.9
Salachas, F.10
Camu, W.11
Didic, M.12
Dubois, B.13
Meininger, V.14
Le Ber, I.15
Brice, A.16
-
4
-
-
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..
-
5
-
-
80052580969
-
Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia
-
Deng H.X., Chen W., Hong S.T., Boycott K.M., Gorrie G.H., Siddique N., Yang Y., Fecto F., Shi Y., Zhai H., Jiang H., Hirano M., Rampersaud E., Jansen G.H., Donkervoort S., Bigio E.H., Brooks B.R., Ajroud K., Sufit R.L., Haines J.L., Mugnaini E., Pericak-Vance M.A., Siddique T. Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia. Nature 2011, 477:211-215.
-
(2011)
Nature
, vol.477
, pp. 211-215
-
-
Deng, H.X.1
Chen, W.2
Hong, S.T.3
Boycott, K.M.4
Gorrie, G.H.5
Siddique, N.6
Yang, Y.7
Fecto, F.8
Shi, Y.9
Zhai, H.10
Jiang, H.11
Hirano, M.12
Rampersaud, E.13
Jansen, G.H.14
Donkervoort, S.15
Bigio, E.H.16
Brooks, B.R.17
Ajroud, K.18
Sufit, R.L.19
Haines, J.L.20
Mugnaini, E.21
Pericak-Vance, M.A.22
Siddique, T.23
more..
-
6
-
-
78649941297
-
Exome sequencing reveals VCP mutations as a cause of familial ALS
-
Johnson J.O., Mandrioli J., Benatar M., Abramzon Y., Van Deerlin V.M., Trojanowski J.Q., Gibbs J.R., Brunetti M., Gronka S., Wuu J., Ding J., McCluskey L., Martinez-Lage M., Falcone D., Hernandez D.G., Arepalli S., Chong S., Schymick J.C., Rothstein J., Landi F., Wang Y.D., Calvo A., Mora G., Sabatelli M., Monsurro M.R., Battistini S., Salvi F., Spataro R., Sola P., Borghero G., Galassi G., Scholz S.W., Taylor J.P., Restagno G., Chio A., Traynor B.J. Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron 2010, 68:857-864.
-
(2010)
Neuron
, vol.68
, pp. 857-864
-
-
Johnson, J.O.1
Mandrioli, J.2
Benatar, M.3
Abramzon, Y.4
Van Deerlin, V.M.5
Trojanowski, J.Q.6
Gibbs, J.R.7
Brunetti, M.8
Gronka, S.9
Wuu, J.10
Ding, J.11
McCluskey, L.12
Martinez-Lage, M.13
Falcone, D.14
Hernandez, D.G.15
Arepalli, S.16
Chong, S.17
Schymick, J.C.18
Rothstein, J.19
Landi, F.20
Wang, Y.D.21
Calvo, A.22
Mora, G.23
Sabatelli, M.24
Monsurro, M.R.25
Battistini, S.26
Salvi, F.27
Spataro, R.28
Sola, P.29
Borghero, G.30
Galassi, G.31
Scholz, S.W.32
Taylor, J.P.33
Restagno, G.34
Chio, A.35
Traynor, B.J.36
more..
-
7
-
-
84899644069
-
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis
-
Johnson J.O., Pioro E.P., Boehringer A., Chia R., Feit H., Renton A.E., Pliner H.A., Abramzon Y., Marangi G., Winborn B.J., Gibbs J.R., Nalls M.A., Morgan S., Shoai M., Hardy J., Pittman A., Orrell R.W., Malaspina A., Sidle K.C., Fratta P., Harms M.B., Baloh R.H., Pestronk A., Weihl C.C., Rogaeva E., Zinman L., Drory V.E., Borghero G., Mora G., Calvo A., Rothstein J.D., Drepper C., Sendtner M., Singleton A.B., Taylor J.P., Cookson M.R., Restagno G., Sabatelli M., Bowser R., Chio A., Traynor B.J. Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis. Nat. Neurosci. 2014, 17:664-666.
-
(2014)
Nat. Neurosci.
, vol.17
, pp. 664-666
-
-
Johnson, J.O.1
Pioro, E.P.2
Boehringer, A.3
Chia, R.4
Feit, H.5
Renton, A.E.6
Pliner, H.A.7
Abramzon, Y.8
Marangi, G.9
Winborn, B.J.10
Gibbs, J.R.11
Nalls, M.A.12
Morgan, S.13
Shoai, M.14
Hardy, J.15
Pittman, A.16
Orrell, R.W.17
Malaspina, A.18
Sidle, K.C.19
Fratta, P.20
Harms, M.B.21
Baloh, R.H.22
Pestronk, A.23
Weihl, C.C.24
Rogaeva, E.25
Zinman, L.26
Drory, V.E.27
Borghero, G.28
Mora, G.29
Calvo, A.30
Rothstein, J.D.31
Drepper, C.32
Sendtner, M.33
Singleton, A.B.34
Taylor, J.P.35
Cookson, M.R.36
Restagno, G.37
Sabatelli, M.38
Bowser, R.39
Chio, A.40
Traynor, B.J.41
more..
-
8
-
-
84875605133
-
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS
-
Kim H.J., Kim N.C., Wang Y.D., Scarborough E.A., Moore J., Diaz Z., MacLea K.S., Freibaum B., Li S., Molliex A., Kanagaraj A.P., Carter R., Boylan K.B., Wojtas A.M., Rademakers R., Pinkus J.L., Greenberg S.A., Trojanowski J.Q., Traynor B.J., Smith B.N., Topp S., Gkazi A.S., Miller J., Shaw C.E., Kottlors M., Kirschner J., Pestronk A., Li Y.R., Ford A.F., Gitler A.D., Benatar M., King O.D., Kimonis V.E., Ross E.D., Weihl C.C., Shorter J., Taylor J.P. Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS. Nature 2013, 495:467-473.
-
(2013)
Nature
, vol.495
, pp. 467-473
-
-
Kim, H.J.1
Kim, N.C.2
Wang, Y.D.3
Scarborough, E.A.4
Moore, J.5
Diaz, Z.6
MacLea, K.S.7
Freibaum, B.8
Li, S.9
Molliex, A.10
Kanagaraj, A.P.11
Carter, R.12
Boylan, K.B.13
Wojtas, A.M.14
Rademakers, R.15
Pinkus, J.L.16
Greenberg, S.A.17
Trojanowski, J.Q.18
Traynor, B.J.19
Smith, B.N.20
Topp, S.21
Gkazi, A.S.22
Miller, J.23
Shaw, C.E.24
Kottlors, M.25
Kirschner, J.26
Pestronk, A.27
Li, Y.R.28
Ford, A.F.29
Gitler, A.D.30
Benatar, M.31
King, O.D.32
Kimonis, V.E.33
Ross, E.D.34
Weihl, C.C.35
Shorter, J.36
Taylor, J.P.37
more..
-
9
-
-
77956850818
-
TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia
-
Mackenzie I.R., Rademakers R., Neumann M. TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia. Lancet Neurol. 2010, 9:995-1007.
-
(2010)
Lancet Neurol.
, vol.9
, pp. 995-1007
-
-
Mackenzie, I.R.1
Rademakers, R.2
Neumann, M.3
-
10
-
-
80054837386
-
Ahexanucleotide 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. Ahexanucleotide 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..
-
11
-
-
77953564663
-
Involvement of Matrin 3 and SFPQ/NONO in the DNA damage response
-
Salton M., Lerenthal Y., Wang S.Y., Chen D.J., Shiloh Y. Involvement of Matrin 3 and SFPQ/NONO in the DNA damage response. Cell Cycle 2010, 9:1568-1576.
-
(2010)
Cell Cycle
, vol.9
, pp. 1568-1576
-
-
Salton, M.1
Lerenthal, Y.2
Wang, S.Y.3
Chen, D.J.4
Shiloh, Y.5
-
12
-
-
80051726311
-
Matrin 3 binds and stabilizes mRNA
-
Salton M., Elkon R., Borodina T., Davydov A., Yaspo M.L., Halperin E., Shiloh Y. Matrin 3 binds and stabilizes mRNA. PLoS One 2011, 6:e23882.
-
(2011)
PLoS One
, vol.6
, pp. e23882
-
-
Salton, M.1
Elkon, R.2
Borodina, T.3
Davydov, A.4
Yaspo, M.L.5
Halperin, E.6
Shiloh, Y.7
-
13
-
-
64149107281
-
Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3
-
Senderek J., Garvey S.M., Krieger M., Guergueltcheva V., Urtizberea A., Roos A., Elbracht M., Stendel C., Tournev I., Mihailova V., Feit H., Tramonte J., Hedera P., Crooks K., Bergmann C., Rudnik-Schoneborn S., Zerres K., Lochmuller H., Seboun E., Weis J., Beckmann J.S., Hauser M.A., Jackson C.E. Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3. Am. J. Hum. Genet. 2009, 84:511-518.
-
(2009)
Am. J. Hum. Genet.
, vol.84
, pp. 511-518
-
-
Senderek, J.1
Garvey, S.M.2
Krieger, M.3
Guergueltcheva, V.4
Urtizberea, A.5
Roos, A.6
Elbracht, M.7
Stendel, C.8
Tournev, I.9
Mihailova, V.10
Feit, H.11
Tramonte, J.12
Hedera, P.13
Crooks, K.14
Bergmann, C.15
Rudnik-Schoneborn, S.16
Zerres, K.17
Lochmuller, H.18
Seboun, E.19
Weis, J.20
Beckmann, J.S.21
Hauser, M.A.22
Jackson, C.E.23
more..
-
14
-
-
84865235172
-
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis
-
Wu C.H., Fallini C., Ticozzi N., Keagle P.J., Sapp P.C., Piotrowska K., Lowe P., Koppers M., McKenna-Yasek D., Baron D.M., Kost J.E., Gonzalez-Perez P., Fox A.D., Adams J., Taroni F., Tiloca C., Leclerc A.L., Chafe S.C., Mangroo D., Moore M.J., Zitzewitz J.A., Xu Z.S., van den Berg L.H., Glass J.D., Siciliano G., Cirulli E.T., Goldstein D.B., Salachas F., Meininger V., Rossoll W., Ratti A., Gellera C., Bosco D.A., Bassell G.J., Silani V., Drory V.E., Brown R.H., Landers J.E. Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis. Nature 2012, 488:499-503.
-
(2012)
Nature
, vol.488
, pp. 499-503
-
-
Wu, C.H.1
Fallini, C.2
Ticozzi, N.3
Keagle, P.J.4
Sapp, P.C.5
Piotrowska, K.6
Lowe, P.7
Koppers, M.8
McKenna-Yasek, D.9
Baron, D.M.10
Kost, J.E.11
Gonzalez-Perez, P.12
Fox, A.D.13
Adams, J.14
Taroni, F.15
Tiloca, C.16
Leclerc, A.L.17
Chafe, S.C.18
Mangroo, D.19
Moore, M.J.20
Zitzewitz, J.A.21
Xu, Z.S.22
van den Berg, L.H.23
Glass, J.D.24
Siciliano, G.25
Cirulli, E.T.26
Goldstein, D.B.27
Salachas, F.28
Meininger, V.29
Rossoll, W.30
Ratti, A.31
Gellera, C.32
Bosco, D.A.33
Bassell, G.J.34
Silani, V.35
Drory, V.E.36
Brown, R.H.37
Landers, J.E.38
more..
|