-
1
-
-
80755133370
-
Clinical genetics of amyotrophic lateral sclerosis: what do we really know?
-
Andersen P.M., Al-Chalabi A. Clinical genetics of amyotrophic lateral sclerosis: what do we really know?. Nat. Rev. Neurology 2011, 7:603-615.
-
(2011)
Nat. Rev. Neurology
, vol.7
, pp. 603-615
-
-
Andersen, P.M.1
Al-Chalabi, A.2
-
2
-
-
84891372287
-
Estimating the inheritance of frontotemporal lobar degeneration in the Italian population
-
29. [Epub ahead of print]
-
Borroni B., Grassi M., Bianchi M., Bruni A.C., Maletta R.G., Anfossi M., Pepe D., Cagnin A., Caffarra P., Cappa S., Clerici F., Daniele A., Frisoni G.B., Galimberti D., Parnetti L., Perri R., Rainero I., Tremolizzo L., Turla M., Zanetti O., Padovani A. Estimating the inheritance of frontotemporal lobar degeneration in the Italian population. J.Alzheimers Dis 2013, 29. [Epub ahead of print].
-
(2013)
J.Alzheimers Dis
-
-
Borroni, B.1
Grassi, M.2
Bianchi, M.3
Bruni, A.C.4
Maletta, R.G.5
Anfossi, M.6
Pepe, D.7
Cagnin, A.8
Caffarra, P.9
Cappa, S.10
Clerici, F.11
Daniele, A.12
Frisoni, G.B.13
Galimberti, D.14
Parnetti, L.15
Perri, R.16
Rainero, I.17
Tremolizzo, L.18
Turla, M.19
Zanetti, O.20
Padovani, A.21
more..
-
3
-
-
0028142392
-
El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis: Subcommittee on Motor Neuron Diseases/Amyotrophic Lateral Sclerosis of the World Federation of Neurology Research Group on Neuromuscular Diseases and the El Escorial "Clinical Limits of Amyotrophic Lateral Sclerosis" Workshop Contributors
-
Brooks B.R. El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis: Subcommittee on Motor Neuron Diseases/Amyotrophic Lateral Sclerosis of the World Federation of Neurology Research Group on Neuromuscular Diseases and the El Escorial "Clinical Limits of Amyotrophic Lateral Sclerosis" Workshop Contributors. J.Neurol. Sci. 1994, 124(suppl):96-107.
-
(1994)
J.Neurol. Sci.
, vol.124
, Issue.SUPPL.
, pp. 96-107
-
-
Brooks, B.R.1
-
4
-
-
84868204382
-
Frontotemporal lobar degeneration: current knowledge and future challenges
-
Cerami C., Scarpini E., Cappa S.F., Galimberti D. Frontotemporal lobar degeneration: current knowledge and future challenges. J.Neurol. 2012, 259:2278-2286.
-
(2012)
J.Neurol.
, vol.259
, pp. 2278-2286
-
-
Cerami, C.1
Scarpini, E.2
Cappa, S.F.3
Galimberti, D.4
-
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
-
-
83555166183
-
AC9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study
-
Gijselinck I., Van Langenhove T., van der Zee J., Sleegers K., Philtjens S., Kleinberger G., Janssens J., Bettens K., Van Cauwenberghe C., Pereson S., Engelborghs S., Sieben A., De Jonghe P., Vandenberghe R., Santens P., De Bleecker J., Maes G., Baumer V., Dillen L., Joris G., Cuijt I., Corsmit E., Elinck E., Van Dongen J., Vermeulen S., Van den Broeck M., Vaerenberg C., Mattheijssens M., Peeters K., Robberecht W., Cras P., Martin J.J., De Deyn P.P., Cruts M., Van Broeckhoven C. AC9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study. Lancet Neurol. 2012, 11:54-65.
-
(2012)
Lancet Neurol.
, vol.11
, pp. 54-65
-
-
Gijselinck, I.1
Van Langenhove, T.2
van der Zee, J.3
Sleegers, K.4
Philtjens, S.5
Kleinberger, G.6
Janssens, J.7
Bettens, K.8
Van Cauwenberghe, C.9
Pereson, S.10
Engelborghs, S.11
Sieben, A.12
De Jonghe, P.13
Vandenberghe, R.14
Santens, P.15
De Bleecker, J.16
Maes, G.17
Baumer, V.18
Dillen, L.19
Joris, G.20
Cuijt, I.21
Corsmit, E.22
Elinck, E.23
Van Dongen, J.24
Vermeulen, S.25
Van den Broeck, M.26
Vaerenberg, C.27
Mattheijssens, M.28
Peeters, K.29
Robberecht, W.30
Cras, P.31
Martin, J.J.32
De Deyn, P.P.33
Cruts, M.34
Van Broeckhoven, C.35
more..
-
7
-
-
80755128213
-
Clinical diagnosis and management of amyotrophic lateral sclerosis
-
Hardiman O., van den Berg L.H., Kiernan M.C. Clinical diagnosis and management of amyotrophic lateral sclerosis. Nat. Rev. Neurology 2011, 7:639-649.
-
(2011)
Nat. Rev. Neurology
, vol.7
, pp. 639-649
-
-
Hardiman, O.1
van den Berg, L.H.2
Kiernan, M.C.3
-
8
-
-
84872361069
-
Analysis of the C9orf72 hexanucleotide repeat expansion in Korean patients with familial and sporadic amyotrophic lateral sclerosis
-
Jang J.H., Kwon M.J., Choi W.J., Oh K.W., Koh S.H., Ki C.S., Kim S.H. Analysis of the C9orf72 hexanucleotide repeat expansion in Korean patients with familial and sporadic amyotrophic lateral sclerosis. Neurobiol. Aging 2013, 34:1311.e7-1311.e9.
-
(2013)
Neurobiol. Aging
, vol.34
-
-
Jang, J.H.1
Kwon, M.J.2
Choi, W.J.3
Oh, K.W.4
Koh, S.H.5
Ki, C.S.6
Kim, S.H.7
-
9
-
-
84856958110
-
VCP mutations in familial and sporadic amyotrophic lateral sclerosis
-
Koppers M., van Blitterswijk M.M., Vlam L., Rowicka P.A., van Vught P.W., Groen E.J., Spliet W.G., Engelen-Lee J., Schelhaas H.J., de Visser M., van der Kooi A.J., van der Pol W.L., Pasterkamp R.J., Veldink J.H., van den Berg L.H. VCP mutations in familial and sporadic amyotrophic lateral sclerosis. Neurobiol. Aging 2012, 33:837.e7-837.e13.
-
(2012)
Neurobiol. Aging
, vol.33
-
-
Koppers, M.1
van Blitterswijk, M.M.2
Vlam, L.3
Rowicka, P.A.4
van Vught, P.W.5
Groen, E.J.6
Spliet, W.G.7
Engelen-Lee, J.8
Schelhaas, H.J.9
de Visser, M.10
van der Kooi, A.J.11
van der Pol, W.L.12
Pasterkamp, R.J.13
Veldink, J.H.14
van den Berg, L.H.15
-
10
-
-
79251624206
-
How common are behavioural changes in amyotrophic lateral sclerosis?
-
Lillo P., Mioshi E., Zoing M.C., Kiernan M.C., Hodges J.R. How common are behavioural changes in amyotrophic lateral sclerosis?. Amyotrophic Lateral Scler. 2011, 12:45-51.
-
(2011)
Amyotrophic Lateral Scler.
, vol.12
, pp. 45-51
-
-
Lillo, P.1
Mioshi, E.2
Zoing, M.C.3
Kiernan, M.C.4
Hodges, J.R.5
-
11
-
-
0028223015
-
Clinical and neuropathological criteria for frontotemporal dementia
-
Lund and Manchester Groups Clinical and neuropathological criteria for frontotemporal dementia. J.Neurol. Neurosurg. Psychiatry 1994, 57:416-418.
-
(1994)
J.Neurol. Neurosurg. Psychiatry
, vol.57
, pp. 416-418
-
-
Lund and Manchester Groups1
-
12
-
-
81355146748
-
Chromosome 9 ALS and FTD locus is probably derived from a single founder
-
Mok K., Traynor B.J., Schymick J., Tienari P.J., Laaksovirta H., Peuralinna T., Myllykangas L., Chio A., Shatunov A., Boeve B.F., Boxer A.L., DeJesus-Hernandez M., Mackenzie I.R., Waite A., Williams N., Morris H.R., Simon-Sanchez J., van Swieten J.C., Heutink P., Restagno G., Mora G., Morrison K.E., Shaw P.J., Rollinson P.S., Al-Chalabi A., Rademakers R., Pickering-Brown S., Orrell R.W., Nalls M.A., Hardy J. Chromosome 9 ALS and FTD locus is probably derived from a single founder. Neurobiol. Aging 2012, 33:209.e3-209.e8.
-
(2012)
Neurobiol. Aging
, vol.33
-
-
Mok, K.1
Traynor, B.J.2
Schymick, J.3
Tienari, P.J.4
Laaksovirta, H.5
Peuralinna, T.6
Myllykangas, L.7
Chio, A.8
Shatunov, A.9
Boeve, B.F.10
Boxer, A.L.11
DeJesus-Hernandez, M.12
Mackenzie, I.R.13
Waite, A.14
Williams, N.15
Morris, H.R.16
Simon-Sanchez, J.17
van Swieten, J.C.18
Heutink, P.19
Restagno, G.20
Mora, G.21
Morrison, K.E.22
Shaw, P.J.23
Rollinson, P.S.24
Al-Chalabi, A.25
Rademakers, R.26
Pickering-Brown, S.27
Orrell, R.W.28
Nalls, M.A.29
Hardy, J.30
more..
-
13
-
-
84874962380
-
The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS
-
Mori K., Weng S.M., Arzberger T., May S., Rentzsch K., Kremmer E., Schmid B., Kretzschmar H.A., Cruts M., Van Broeckhoven C., Haass C., Edbauer D. The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS. Science 2013, 339:1335-1338.
-
(2013)
Science
, vol.339
, pp. 1335-1338
-
-
Mori, K.1
Weng, S.M.2
Arzberger, T.3
May, S.4
Rentzsch, K.5
Kremmer, E.6
Schmid, B.7
Kretzschmar, H.A.8
Cruts, M.9
Van Broeckhoven, C.10
Haass, C.11
Edbauer, D.12
-
14
-
-
84864383816
-
Analysis of C9orf72 repeat expansion in 563 Japanese patients with amyotrophic lateral sclerosis
-
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.e11-2527.e16.
-
(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
-
15
-
-
39749187585
-
Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: comparison with patients with MAPT and no known mutations
-
Pickering-Brown S.M., Rollinson S., Du Plessis D., Morrison K.E., Varma A., Richardson A.M., Neary D., Snowden J.S., Mann D.M. Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: comparison with patients with MAPT and no known mutations. Brain 2008, 131:721-731.
-
(2008)
Brain
, vol.131
, pp. 721-731
-
-
Pickering-Brown, S.M.1
Rollinson, S.2
Du Plessis, D.3
Morrison, K.E.4
Varma, A.5
Richardson, A.M.6
Neary, D.7
Snowden, J.S.8
Mann, D.M.9
-
16
-
-
78751579187
-
Behavioural-variant frontotemporal dementia: diagnosis, clinical staging, and management
-
Piguet O., Hornberger M., Mioshi E., Hodges J.R. Behavioural-variant frontotemporal dementia: diagnosis, clinical staging, and management. Lancet Neurol. 2011, 10:162-172.
-
(2011)
Lancet Neurol.
, vol.10
, pp. 162-172
-
-
Piguet, O.1
Hornberger, M.2
Mioshi, E.3
Hodges, J.R.4
-
17
-
-
84875981640
-
The disease-associated r(GGGGCC)n repeat from the C9orf72 gene forms tract length-dependent uni- and multimolecular RNA G-quadruplex structures
-
Reddy K., Zamiri B., Stanley S.Y., Macgregor R.B., Pearson C.E. The disease-associated r(GGGGCC)n repeat from the C9orf72 gene forms tract length-dependent uni- and multimolecular RNA G-quadruplex structures. J.Biol. Chem. 2013, 288:9860-9866.
-
(2013)
J.Biol. Chem.
, vol.288
, pp. 9860-9866
-
-
Reddy, K.1
Zamiri, B.2
Stanley, S.Y.3
Macgregor, R.B.4
Pearson, C.E.5
-
18
-
-
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..
-
19
-
-
84863731336
-
Widespread structural and functional connectivity changes in amyotrophic lateral sclerosis: insights from advanced neuroimaging research
-
Trojsi F., Monsurro M.R., Esposito F., Tedeschi G. Widespread structural and functional connectivity changes in amyotrophic lateral sclerosis: insights from advanced neuroimaging research. Neural Plast. 2012, 2012:473538.
-
(2012)
Neural Plast.
, vol.2012
, pp. 473538
-
-
Trojsi, F.1
Monsurro, M.R.2
Esposito, F.3
Tedeschi, G.4
-
20
-
-
84863482648
-
Ahexanucleotide repeat expansion in C9ORF72 causes familial and sporadic ALS in Taiwan
-
Tsai C.P., Soong B.W., Tu P.H., Lin K.P., Fuh J.L., Tsai P.C., Lu Y.C., Lee I.H., Lee Y.C. Ahexanucleotide repeat expansion in C9ORF72 causes familial and sporadic ALS in Taiwan. Neurobiol. Aging 2012, 33:2232.e11-2232.e18.
-
(2012)
Neurobiol. Aging
, vol.33
-
-
Tsai, C.P.1
Soong, B.W.2
Tu, P.H.3
Lin, K.P.4
Fuh, J.L.5
Tsai, P.C.6
Lu, Y.C.7
Lee, I.H.8
Lee, Y.C.9
-
21
-
-
84875241102
-
Screening for C9orf72 repeat expansions in Chinese amyotrophic lateral sclerosis patients
-
Zou Z.Y., Li X.G., Liu M.S., Cui L.Y. Screening for C9orf72 repeat expansions in Chinese amyotrophic lateral sclerosis patients. Neurobiol. Aging 2013, 34:1710.e5-1710.e6.
-
(2013)
Neurobiol. Aging
, vol.34
-
-
Zou, Z.Y.1
Li, X.G.2
Liu, M.S.3
Cui, L.Y.4
|