-
1
-
-
77951640946
-
Amethod and server for predicting damaging missense mutations
-
Adzhubei I.A., Schmidt S., Peshkin L., Ramensky V.E., Gerasimova A., Bork P., Kondrashov A.S., Sunyaev S.R. Amethod and server for predicting damaging missense mutations. Nat. Methods 2010, 7:248-249.
-
(2010)
Nat. Methods
, vol.7
, pp. 248-249
-
-
Adzhubei, I.A.1
Schmidt, S.2
Peshkin, L.3
Ramensky, V.E.4
Gerasimova, A.5
Bork, P.6
Kondrashov, A.S.7
Sunyaev, S.R.8
-
2
-
-
33746919083
-
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17
-
Baker M., Mackenzie I.R., Pickering-Brown S.M., Gass J., Rademakers R., Lindholm C., Snowden J., Adamson J., Sadovnick A.D., Rollinson S., Cannon A., Dwosh E., Neary D., Melquist S., Richardson A., Dickson D., Berger Z., Eriksen J., Robinson T., Zehr C., Dickey C.A., Crook R., McGowan E., Mann D., Boeve B., Feldman H., Hutton M. Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature 2006, 442:916-919.
-
(2006)
Nature
, vol.442
, pp. 916-919
-
-
Baker, M.1
Mackenzie, I.R.2
Pickering-Brown, S.M.3
Gass, J.4
Rademakers, R.5
Lindholm, C.6
Snowden, J.7
Adamson, J.8
Sadovnick, A.D.9
Rollinson, S.10
Cannon, A.11
Dwosh, E.12
Neary, D.13
Melquist, S.14
Richardson, A.15
Dickson, D.16
Berger, Z.17
Eriksen, J.18
Robinson, T.19
Zehr, C.20
Dickey, C.A.21
Crook, R.22
McGowan, E.23
Mann, D.24
Boeve, B.25
Feldman, H.26
Hutton, M.27
more..
-
3
-
-
65649112431
-
TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration
-
French Clinical and Genetic Research Network on Frontotemporal Lobar Degeneration/Frontotemporal Lobar Degeneration with Motoneuron Disease.
-
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. French Clinical and Genetic Research Network on Frontotemporal Lobar Degeneration/Frontotemporal Lobar Degeneration with Motoneuron Disease.
-
(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
-
4
-
-
42249085980
-
Refining frontotemporal dementia with parkinsonism linked to chromosome 17: introducing FTDP-17 (MAPT) and FTDP-17 (PGRN)
-
Boeve B.F., Hutton M. Refining frontotemporal dementia with parkinsonism linked to chromosome 17: introducing FTDP-17 (MAPT) and FTDP-17 (PGRN). Arch. Neurol. 2008, 65:460-464.
-
(2008)
Arch. Neurol.
, vol.65
, pp. 460-464
-
-
Boeve, B.F.1
Hutton, M.2
-
5
-
-
84857050135
-
Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study
-
Byrne S., Elamin M., Bede P., Shatunov A., Walsh C., Corr B., Heverin M., Jordan N., Kenna K., Lynch C., McLaughlin R.L., Iyer P.M., O'Brien C., Phukan J., Wynne B., Bokde A.L., Bradley D.G., Pender N., Al-Chalabi A., Hardiman O. Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study. Lancet Neurol. 2012, 11:232-240.
-
(2012)
Lancet Neurol.
, vol.11
, pp. 232-240
-
-
Byrne, S.1
Elamin, M.2
Bede, P.3
Shatunov, A.4
Walsh, C.5
Corr, B.6
Heverin, M.7
Jordan, N.8
Kenna, K.9
Lynch, C.10
McLaughlin, R.L.11
Iyer, P.M.12
O'Brien, C.13
Phukan, J.14
Wynne, B.15
Bokde, A.L.16
Bradley, D.G.17
Pender, N.18
Al-Chalabi, A.19
Hardiman, O.20
more..
-
6
-
-
84857522741
-
Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72
-
Chiò A., Borghero G., Restagno G., Mora G., Drepper C., Traynor B.J., Sendtner M., Brunetti M., Ossola I., Calvo A., Pugliatti M., Sotgiu M.A., Murru M.R., Marrosu M.G., Marrosu F., Marinou K., Mandrioli J., Sola P., Caponnetto C., Mancardi G., Mandich P., La Bella V., Spataro R., Conte A., Monsurrò M.R., Tedeschi G., Pisano F., Bartolomei I., Salvi F., Lauria Pinter G., Simone I., Logroscino G., Gambardella A., Quattrone A., Lunetta C., Volanti P., Zollino M., Penco S., Battistini S., Renton A.E., Majounie E., Abramzon Y., Conforti F.L., Giannini F., Corbo M., Sabatelli M., consortium I. Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72. Brain 2012, 135(Pt 3):784-793.
-
(2012)
Brain
, vol.135
, Issue.PART 3
, pp. 784-793
-
-
Chiò, A.1
Borghero, G.2
Restagno, G.3
Mora, G.4
Drepper, C.5
Traynor, B.J.6
Sendtner, M.7
Brunetti, M.8
Ossola, I.9
Calvo, A.10
Pugliatti, M.11
Sotgiu, M.A.12
Murru, M.R.13
Marrosu, M.G.14
Marrosu, F.15
Marinou, K.16
Mandrioli, J.17
Sola, P.18
Caponnetto, C.19
Mancardi, G.20
Mandich, P.21
La Bella, V.22
Spataro, R.23
Conte, A.24
Monsurrò, M.R.25
Tedeschi, G.26
Pisano, F.27
Bartolomei, I.28
Salvi, F.29
Lauria Pinter, G.30
Simone, I.31
Logroscino, G.32
Gambardella, A.33
Quattrone, A.34
Lunetta, C.35
Volanti, P.36
Zollino, M.37
Penco, S.38
Battistini, S.39
Renton, A.E.40
Majounie, E.41
Abramzon, Y.42
Conforti, F.L.43
Giannini, F.44
Corbo, M.45
Sabatelli, M.46
consortium, I.47
more..
-
7
-
-
84857054634
-
Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72
-
Cooper-Knock J., Hewitt C., Highley J.R., 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 C.J., Traynor B.J., Kirby J., Wharton S.B., Ince P.G., Hardy J., Shaw P.J. Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72. Brain 2012, 135(Pt 3):751-764.
-
(2012)
Brain
, vol.135
, Issue.PART 3
, 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..
-
8
-
-
33746910649
-
Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21
-
Cruts M., Gijselinck I., van der Zee J., Engelborghs S., Wils H., Pirici D., Rademakers R., Vandenberghe R., Dermaut B., Martin J.J., van Duijn C., Peeters K., Sciot R., Santens P., De Pooter T., Mattheijssens M., Van den Broeck M., Cuijt I., Vennekens K., De Deyn P.P., Kumar-Singh S., Van Broeckhoven C. Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. Nature 2006, 442:920-924.
-
(2006)
Nature
, vol.442
, pp. 920-924
-
-
Cruts, M.1
Gijselinck, I.2
van der Zee, J.3
Engelborghs, S.4
Wils, H.5
Pirici, D.6
Rademakers, R.7
Vandenberghe, R.8
Dermaut, B.9
Martin, J.J.10
van Duijn, C.11
Peeters, K.12
Sciot, R.13
Santens, P.14
De Pooter, T.15
Mattheijssens, M.16
Van den Broeck, M.17
Cuijt, I.18
Vennekens, K.19
De Deyn, P.P.20
Kumar-Singh, S.21
Van Broeckhoven, C.22
more..
-
9
-
-
84866125769
-
C9orf72 hexanucleotide repeat expansions as the causative mutation for chromosome 9p21-linked amyotrophic lateral sclerosis and frontotemporal dementia
-
Daoud H., Suhail H., Sabbagh M., Belzil V., Szuto A., Dionne-Laporte A., Khoris J., Camu W., Salachas F., Meininger V., Mathieu J., Strong M., Dion P.A., Rouleau G.A. C9orf72 hexanucleotide repeat expansions as the causative mutation for chromosome 9p21-linked amyotrophic lateral sclerosis and frontotemporal dementia. Arch. Neurol. 2012, 69:1159-1163.
-
(2012)
Arch. Neurol.
, vol.69
, pp. 1159-1163
-
-
Daoud, H.1
Suhail, H.2
Sabbagh, M.3
Belzil, V.4
Szuto, A.5
Dionne-Laporte, A.6
Khoris, J.7
Camu, W.8
Salachas, F.9
Meininger, V.10
Mathieu, J.11
Strong, M.12
Dion, P.A.13
Rouleau, G.A.14
-
10
-
-
84875253293
-
Genetic study on frontotemporal lobar degeneration in India
-
Das G., Sadhukhan T., Sadhukhan D., Biswas A., Pal S., Ghosh A., Das S.K., Ray K., Ray J. Genetic study on frontotemporal lobar degeneration in India. Parkinsonism Relat. Disord. 2013, 19:487-489.
-
(2013)
Parkinsonism Relat. Disord.
, vol.19
, pp. 487-489
-
-
Das, G.1
Sadhukhan, T.2
Sadhukhan, D.3
Biswas, A.4
Pal, S.5
Ghosh, A.6
Das, S.K.7
Ray, K.8
Ray, J.9
-
11
-
-
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..
-
12
-
-
84874230421
-
C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patients
-
Dobson-Stone C., Hallupp M., Loy C.T., Thompson E.M., Haan E., Sue C.M., Panegyres P.K., Razquin C., Seijo-Martínez M., Rene R., Gascon J., Campdelacreu J., Schmoll B., Volk A.E., Brooks W.S., Schofield P.R., Pastor P., Kwok J.B. C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patients. PLoS One 2013, 8:e56899.
-
(2013)
PLoS One
, vol.8
-
-
Dobson-Stone, C.1
Hallupp, M.2
Loy, C.T.3
Thompson, E.M.4
Haan, E.5
Sue, C.M.6
Panegyres, P.K.7
Razquin, C.8
Seijo-Martínez, M.9
Rene, R.10
Gascon, J.11
Campdelacreu, J.12
Schmoll, B.13
Volk, A.E.14
Brooks, W.S.15
Schofield, P.R.16
Pastor, P.17
Kwok, J.B.18
-
13
-
-
84861867565
-
Familial Lund frontotemporal dementia caused by C9ORF72 hexanucleotide expansion
-
Englund E., Gustafson L., Passant U., Majounie E., Renton A.E., Traynor B.J., Rohrer J.D., Mok K., Hardy J. Familial Lund frontotemporal dementia caused by C9ORF72 hexanucleotide expansion. Neurobiol. Aging 2012, 33:1850.e13-1850.e16.
-
(2012)
Neurobiol. Aging
, vol.33
-
-
Englund, E.1
Gustafson, L.2
Passant, U.3
Majounie, E.4
Renton, A.E.5
Traynor, B.J.6
Rohrer, J.D.7
Mok, K.8
Hardy, J.9
-
14
-
-
84861861630
-
Screeningfor C9ORF72 repeat expansion in FTLD
-
Ferrari R., Mok K., Moreno J.H., Cosentino S., Goldman J., Pietrini P., Mayeux R., Tierney M.C., Kapogiannis D., Jicha G.A., Murrell J.R., Ghetti B., Wassermann E.M., Grafman J., Hardy J., Huey E.D., Momeni P. Screeningfor C9ORF72 repeat expansion in FTLD. Neurobiol. Aging 2012, 33:1850.e1-1850.e11.
-
(2012)
Neurobiol. Aging
, vol.33
-
-
Ferrari, R.1
Mok, K.2
Moreno, J.H.3
Cosentino, S.4
Goldman, J.5
Pietrini, P.6
Mayeux, R.7
Tierney, M.C.8
Kapogiannis, D.9
Jicha, G.A.10
Murrell, J.R.11
Ghetti, B.12
Wassermann, E.M.13
Grafman, J.14
Hardy, J.15
Huey, E.D.16
Momeni, P.17
-
15
-
-
84871610298
-
Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwide
-
Group, C.O.S.S
-
García-Redondo A., Dols-Icardo O., Rojas-García R., Esteban-Pérez J., Cordero-Vázquez P., Muñoz-Blanco J.L., Catalina I., González-Muñoz M., Varona L., Sarasola E., Povedano M., Sevilla T., Guerrero A., Pardo J., de Munain A.L., Márquez-Infante C., de Rivera F.J., Pastor P., Jericó I., de Arcaya A., Mora J.S., Clarimón J., Gonzalo-Martínez J.F., Juárez-Rufián A., Atencia G., Jiménez-Bautista R., Morán Y., Mascías J., Hernández-Barral M., Kapetanovic S., García-Barcina M., Alcalá C., Vela A., Ramírez-Ramos C., Galán L., Pérez-Tur J., Quintáns B., Sobrido M.J., Fernández-Torrón R., Poza J.J., Gorostidi A., Paradas C., Villoslada P., Larrodé P., Capablo J.L., Pascual-Calvet J., Goñi M., Morgado Y., Guitart M., Moreno-Laguna S., Rueda A., Martín-Estefanía C., Cemillán C., Blesa R., Lleó A. Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwide. Hum. Mutat. 2013, 34:79-82. Group, C.O.S.S.
-
(2013)
Hum. Mutat.
, vol.34
, pp. 79-82
-
-
García-Redondo, A.1
Dols-Icardo, O.2
Rojas-García, R.3
Esteban-Pérez, J.4
Cordero-Vázquez, P.5
Muñoz-Blanco, J.L.6
Catalina, I.7
González-Muñoz, M.8
Varona, L.9
Sarasola, E.10
Povedano, M.11
Sevilla, T.12
Guerrero, A.13
Pardo, J.14
de Munain, A.L.15
Márquez-Infante, C.16
de Rivera, F.J.17
Pastor, P.18
Jericó, I.19
de Arcaya, A.20
Mora, J.S.21
Clarimón, J.22
Gonzalo-Martínez, J.F.23
Juárez-Rufián, A.24
Atencia, G.25
Jiménez-Bautista, R.26
Morán, Y.27
Mascías, J.28
Hernández-Barral, M.29
Kapetanovic, S.30
García-Barcina, M.31
Alcalá, C.32
Vela, A.33
Ramírez-Ramos, C.34
Galán, L.35
Pérez-Tur, J.36
Quintáns, B.37
Sobrido, M.J.38
Fernández-Torrón, R.39
Poza, J.J.40
Gorostidi, A.41
Paradas, C.42
Villoslada, P.43
Larrodé, P.44
Capablo, J.L.45
Pascual-Calvet, J.46
Goñi, M.47
Morgado, Y.48
Guitart, M.49
Moreno-Laguna, S.50
Rueda, A.51
Martín-Estefanía, C.52
Cemillán, C.53
Blesa, R.54
Lleó, A.55
more..
-
16
-
-
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., Bäumer 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
Bäumer, 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..
-
17
-
-
0032543684
-
Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17
-
Hutton M., Lendon C.L., Rizzu P., Baker M., Froelich S., Houlden H., Pickering-Brown S., Chakraverty S., Isaacs A., Grover A., Hackett J., Adamson J., Lincoln S., Dickson D., Davies P., Petersen R.C., Stevens M., de Graaff E., Wauters E., van Baren J., Hillebrand M., Joosse M., Kwon J.M., Nowotny P., Che L.K., Norton J., Morris J.C., Reed L.A., Trojanowski J., Basun H., Lannfelt L., Neystat M., Fahn S., Dark F., Tannenberg T., Dodd P.R., Hayward N., Kwok J.B., Schofield P.R., Andreadis A., Snowden J., Craufurd D., Neary D., Owen F., Oostra B.A., Hardy J., Goate A., van Swieten J., Mann D., Lynch T., Heutink P. Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 1998, 393:702-705.
-
(1998)
Nature
, vol.393
, pp. 702-705
-
-
Hutton, M.1
Lendon, C.L.2
Rizzu, P.3
Baker, M.4
Froelich, S.5
Houlden, H.6
Pickering-Brown, S.7
Chakraverty, S.8
Isaacs, A.9
Grover, A.10
Hackett, J.11
Adamson, J.12
Lincoln, S.13
Dickson, D.14
Davies, P.15
Petersen, R.C.16
Stevens, M.17
de Graaff, E.18
Wauters, E.19
van Baren, J.20
Hillebrand, M.21
Joosse, M.22
Kwon, J.M.23
Nowotny, P.24
Che, L.K.25
Norton, J.26
Morris, J.C.27
Reed, L.A.28
Trojanowski, J.29
Basun, H.30
Lannfelt, L.31
Neystat, M.32
Fahn, S.33
Dark, F.34
Tannenberg, T.35
Dodd, P.R.36
Hayward, N.37
Kwok, J.B.38
Schofield, P.R.39
Andreadis, A.40
Snowden, J.41
Craufurd, D.42
Neary, D.43
Owen, F.44
Oostra, B.A.45
Hardy, J.46
Goate, A.47
van Swieten, J.48
Mann, D.49
Lynch, T.50
Heutink, P.51
more..
-
19
-
-
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 L.P., 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
-
20
-
-
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
-
21
-
-
78651388440
-
Survival in frontotemporal lobar degeneration in a Korean population
-
Kang S.J., Cha K.R., Seo S.W., Kim E.A., Cheong H.K., Kim E.J., Na D.L., Jeong J.H. Survival in frontotemporal lobar degeneration in a Korean population. Alzheimer Dis. Assoc. Disord. 2010, 24:339-342.
-
(2010)
Alzheimer Dis. Assoc. Disord.
, vol.24
, pp. 339-342
-
-
Kang, S.J.1
Cha, K.R.2
Seo, S.W.3
Kim, E.A.4
Cheong, H.K.5
Kim, E.J.6
Na, D.L.7
Jeong, J.H.8
-
22
-
-
79958699242
-
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia linked to VCP p.Arg155Cys in a Korean family
-
Kim E.J., Park Y.E., Kim D.S., Ahn B.Y., Kim H.S., Chang Y.H., Kim S.J., Kim H.J., Lee H.W., Seeley W.W., Kim S. Inclusion body myopathy with Paget disease of bone and frontotemporal dementia linked to VCP p.Arg155Cys in a Korean family. Arch. Neurol. 2011, 68:787-796.
-
(2011)
Arch. Neurol.
, vol.68
, pp. 787-796
-
-
Kim, E.J.1
Park, Y.E.2
Kim, D.S.3
Ahn, B.Y.4
Kim, H.S.5
Chang, Y.H.6
Kim, S.J.7
Kim, H.J.8
Lee, H.W.9
Seeley, W.W.10
Kim, S.11
-
23
-
-
77952888766
-
Screening for MAPT and PGRN mutations in Korean patients with PSP/CBS/FTD
-
Kim H.J., Jeon B.S., Yun J.Y., Seong M.W., Park S.S., Lee J.Y. Screening for MAPT and PGRN mutations in Korean patients with PSP/CBS/FTD. Parkinsonism Relat. Disord. 2010, 16:305-306.
-
(2010)
Parkinsonism Relat. Disord.
, vol.16
, pp. 305-306
-
-
Kim, H.J.1
Jeon, B.S.2
Yun, J.Y.3
Seong, M.W.4
Park, S.S.5
Lee, J.Y.6
-
24
-
-
55749085637
-
Development of methodology for conducting clinical trials in frontotemporal lobar degeneration
-
Knopman D.S., Kramer J.H., Boeve B.F., Caselli R.J., Graff-Radford N.R., Mendez M.F., Miller B.L., Mercaldo N. Development of methodology for conducting clinical trials in frontotemporal lobar degeneration. Brain 2008, 131(Pt 11):2957-2968.
-
(2008)
Brain
, vol.131
, Issue.PART 11
, pp. 2957-2968
-
-
Knopman, D.S.1
Kramer, J.H.2
Boeve, B.F.3
Caselli, R.J.4
Graff-Radford, N.R.5
Mendez, M.F.6
Miller, B.L.7
Mercaldo, N.8
-
25
-
-
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
-
26
-
-
68149165614
-
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
-
Kumar P., Henikoff S., Ng P.C. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat. Protoc. 2009, 4:1073-1081.
-
(2009)
Nat. Protoc.
, vol.4
, pp. 1073-1081
-
-
Kumar, P.1
Henikoff, S.2
Ng, P.C.3
-
27
-
-
0037044240
-
The overlap of amyotrophic lateral sclerosis and frontotemporal dementia
-
Lomen-Hoerth C., Anderson T., Miller B. The overlap of amyotrophic lateral sclerosis and frontotemporal dementia. Neurology 2002, 59:1077-1079.
-
(2002)
Neurology
, vol.59
, pp. 1077-1079
-
-
Lomen-Hoerth, C.1
Anderson, T.2
Miller, B.3
-
28
-
-
84858622829
-
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
-
Majounie E., Renton A.E., Mok K., Dopper E.G., Waite A., Rollinson S., Chiò A., Restagno G., Nicolaou N., Simon-Sanchez J., van Swieten J.C., Abramzon Y., Johnson J.O., Sendtner M., Pamphlett R., Orrell R.W., Mead S., Sidle K.C., Houlden H., Rohrer J.D., Morrison K.E., Pall H., Talbot K., Ansorge O., Hernandez D.G., Arepalli S., Sabatelli M., Mora G., Corbo M., Giannini F., Calvo A., Englund E., Borghero G., Floris G.L., Remes A.M., Laaksovirta H., McCluskey L., Trojanowski J.Q., Van Deerlin V.M., Schellenberg G.D., Nalls M.A., Drory V.E., Lu C.S., Yeh T.H., Ishiura H., Takahashi Y., Tsuji S., Le Ber I., Brice A., Drepper C., Williams N., Kirby J., Shaw P., Hardy J., Tienari P.J., Heutink P., Morris H.R., Pickering-Brown S., Traynor B.J. 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
Chiò, 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..
-
29
-
-
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., Chiò A., Shatunov A., Boeve B.F., Boxer A.L., DeJesus-Hernandez M., Mackenzie I.R., Waite A., Williams N., Morris H.R., Simón-Sánchez 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
Chiò, 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
Simón-Sánchez, 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..
-
30
-
-
84861889360
-
High frequency of the expanded C9ORF72 hexanucleotide repeat in familial and sporadic Greek ALS patients
-
Mok K.Y., Koutsis G., Schottlaender L.V., Polke J., Panas M., Houlden H. High frequency of the expanded C9ORF72 hexanucleotide repeat in familial and sporadic Greek ALS patients. Neurobiol. Aging 2012, 33:1851.e1-1851.e5.
-
(2012)
Neurobiol. Aging
, vol.33
-
-
Mok, K.Y.1
Koutsis, G.2
Schottlaender, L.V.3
Polke, J.4
Panas, M.5
Houlden, H.6
-
31
-
-
0031672540
-
Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria
-
Neary D., Snowden J., Gustafson L., Passant U., Stuss D., Black S., Freedman M., Kertesz A., Robert P., Albert M., Boone K., Miller B., Cummings J., Benson D. Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria. Neurology 1998, 51:1546-1554.
-
(1998)
Neurology
, vol.51
, pp. 1546-1554
-
-
Neary, D.1
Snowden, J.2
Gustafson, L.3
Passant, U.4
Stuss, D.5
Black, S.6
Freedman, M.7
Kertesz, A.8
Robert, P.9
Albert, M.10
Boone, K.11
Miller, B.12
Cummings, J.13
Benson, D.14
-
32
-
-
84864383816
-
Analysis of C9orf72 repeat expansion in 563 Japanese patients with amyotrophic lateral sclerosis
-
Japanese Consortium for Amyotrophic Lateral Sclerosis research (JaCALS).
-
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. Japanese Consortium for Amyotrophic Lateral Sclerosis research (JaCALS).
-
(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
-
33
-
-
84871512745
-
Analyses of the MAPT, PGRN, and C9orf72 mutations in Japanese patients with FTLD, PSP, and CBS
-
Ogaki K., Li Y., Takanashi M., Ishikawa K., Kobayashi T., Nonaka T., Hasegawa M., Kishi M., Yoshino H., Funayama M., Tsukamoto T., Shioya K., Yokochi M., Imai H., Sasaki R., Kokubo Y., Kuzuhara S., Motoi Y., Tomiyama H., Hattori N. Analyses of the MAPT, PGRN, and C9orf72 mutations in Japanese patients with FTLD, PSP, and CBS. Parkinsonism Relat. Disord. 2013, 19:15-20.
-
(2013)
Parkinsonism Relat. Disord.
, vol.19
, pp. 15-20
-
-
Ogaki, K.1
Li, Y.2
Takanashi, M.3
Ishikawa, K.4
Kobayashi, T.5
Nonaka, T.6
Hasegawa, M.7
Kishi, M.8
Yoshino, H.9
Funayama, M.10
Tsukamoto, T.11
Shioya, K.12
Yokochi, M.13
Imai, H.14
Sasaki, R.15
Kokubo, Y.16
Kuzuhara, S.17
Motoi, Y.18
Tomiyama, H.19
Hattori, N.20
more..
-
34
-
-
84859768480
-
History, present, and progress of frontotemporal dementia in china: a systematic review
-
Ren R.J., Huang Y., Xu G., Li C.B., Cheng Q., Chen S.D., Wang G. History, present, and progress of frontotemporal dementia in china: a systematic review. Int. J. Alzheimers Dis. 2012, 2012:587215.
-
(2012)
Int. J. Alzheimers Dis.
, vol.2012
, pp. 587215
-
-
Ren, R.J.1
Huang, Y.2
Xu, G.3
Li, C.B.4
Cheng, Q.5
Chen, S.D.6
Wang, G.7
-
35
-
-
80054837386
-
Ahexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
-
Renton A.E., Majounie E., Waite A., Simón-Sánchez 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., Hölttä-Vuori M., Ikonen E., Sulkava R., Benatar M., Wuu J., Chiò 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
Simón-Sánchez, 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
Hölttä-Vuori, M.48
Ikonen, E.49
Sulkava, R.50
Benatar, M.51
Wuu, J.52
Chiò, 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..
-
36
-
-
70449365115
-
The heritability and genetics of frontotemporal lobar degeneration
-
Rohrer J.D., Guerreiro R., Vandrovcova J., Uphill J., Reiman D., Beck J., Isaacs A.M., Authier A., Ferrari R., Fox N.C., Mackenzie I.R., Warren J.D., de Silva R., Holton J., Revesz T., Hardy J., Mead S., Rossor M.N. The heritability and genetics of frontotemporal lobar degeneration. Neurology 2009, 73:1451-1456.
-
(2009)
Neurology
, vol.73
, pp. 1451-1456
-
-
Rohrer, J.D.1
Guerreiro, R.2
Vandrovcova, J.3
Uphill, J.4
Reiman, D.5
Beck, J.6
Isaacs, A.M.7
Authier, A.8
Ferrari, R.9
Fox, N.C.10
Mackenzie, I.R.11
Warren, J.D.12
de Silva, R.13
Holton, J.14
Revesz, T.15
Hardy, J.16
Mead, S.17
Rossor, M.N.18
-
37
-
-
84861888264
-
C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population
-
Sabatelli M., Conforti F.L., Zollino M., Mora G., Monsurrò M.R., Volanti P., Marinou K., Salvi F., Corbo M., Giannini F., Battistini S., Penco S., Lunetta C., Quattrone A., Gambardella A., Logroscino G., Simone I., Bartolomei I., Pisano F., Tedeschi G., Conte A., Spataro R., La Bella V., Caponnetto C., Mancardi G., Mandich P., Sola P., Mandrioli J., Renton A.E., Majounie E., Abramzon Y., Marrosu F., Marrosu M.G., Murru M.R., Sotgiu M.A., Pugliatti M., Rodolico C., Moglia C., Calvo A., Ossola I., Brunetti M., Traynor B.J., Borghero G., Restagno G., Chiò A. C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population. Neurobiol. Aging 2012, 33:1848.e15-1848.e20.
-
(2012)
Neurobiol. Aging
, vol.33
-
-
Sabatelli, M.1
Conforti, F.L.2
Zollino, M.3
Mora, G.4
Monsurrò, M.R.5
Volanti, P.6
Marinou, K.7
Salvi, F.8
Corbo, M.9
Giannini, F.10
Battistini, S.11
Penco, S.12
Lunetta, C.13
Quattrone, A.14
Gambardella, A.15
Logroscino, G.16
Simone, I.17
Bartolomei, I.18
Pisano, F.19
Tedeschi, G.20
Conte, A.21
Spataro, R.22
La Bella, V.23
Caponnetto, C.24
Mancardi, G.25
Mandich, P.26
Sola, P.27
Mandrioli, J.28
Renton, A.E.29
Majounie, E.30
Abramzon, Y.31
Marrosu, F.32
Marrosu, M.G.33
Murru, M.R.34
Sotgiu, M.A.35
Pugliatti, M.36
Rodolico, C.37
Moglia, C.38
Calvo, A.39
Ossola, I.40
Brunetti, M.41
Traynor, B.J.42
Borghero, G.43
Restagno, G.44
Chiò, A.45
more..
-
38
-
-
79953883507
-
Clinical, genetic and pathological heterogeneity of frontotemporal dementia: a review
-
Seelaar H., Rohrer J.D., Pijnenburg Y.A., Fox N.C., van Swieten J.C. Clinical, genetic and pathological heterogeneity of frontotemporal dementia: a review. J.Neurol. Neurosurg. Psychiatry 2011, 82:476-486.
-
(2011)
J.Neurol. Neurosurg. Psychiatry
, vol.82
, pp. 476-486
-
-
Seelaar, H.1
Rohrer, J.D.2
Pijnenburg, Y.A.3
Fox, N.C.4
van Swieten, J.C.5
-
39
-
-
84857516402
-
The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions
-
Simón-Sánchez J., Dopper E.G., Cohn-Hokke P.E., Hukema R.K., Nicolaou N., Seelaar H., de Graaf J.R., de Koning I., van Schoor N.M., Deeg D.J., Smits M., Raaphorst J., van den Berg L.H., Schelhaas H.J., De Die-Smulders C.E., Majoor-Krakauer D., Rozemuller A.J., Willemsen R., Pijnenburg Y.A., Heutink P., van Swieten J.C. The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions. Brain 2012, 135:723-735.
-
(2012)
Brain
, vol.135
, pp. 723-735
-
-
Simón-Sánchez, J.1
Dopper, E.G.2
Cohn-Hokke, P.E.3
Hukema, R.K.4
Nicolaou, N.5
Seelaar, H.6
de Graaf, J.R.7
de Koning, I.8
van Schoor, N.M.9
Deeg, D.J.10
Smits, M.11
Raaphorst, J.12
van den Berg, L.H.13
Schelhaas, H.J.14
De Die-Smulders, C.E.15
Majoor-Krakauer, D.16
Rozemuller, A.J.17
Willemsen, R.18
Pijnenburg, Y.A.19
Heutink, P.20
van Swieten, J.C.21
more..
-
40
-
-
23044471011
-
Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia
-
Skibinski G., Parkinson N.J., Brown J.M., Chakrabarti L., Lloyd S.L., Hummerich H., Nielsen J.E., Hodges J.R., Spillantini M.G., Thusgaard T., Brandner S., Brun A., Rossor M.N., Gade A., Johannsen P., Sørensen S.A., Gydesen S., Fisher E.M., Collinge J. Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia. Nat. Genet. 2005, 37:806-808.
-
(2005)
Nat. Genet.
, vol.37
, pp. 806-808
-
-
Skibinski, G.1
Parkinson, N.J.2
Brown, J.M.3
Chakrabarti, L.4
Lloyd, S.L.5
Hummerich, H.6
Nielsen, J.E.7
Hodges, J.R.8
Spillantini, M.G.9
Thusgaard, T.10
Brandner, S.11
Brun, A.12
Rossor, M.N.13
Gade, A.14
Johannsen, P.15
Sørensen, S.A.16
Gydesen, S.17
Fisher, E.M.18
Collinge, J.19
-
41
-
-
84863393065
-
Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations
-
Snowden J.S., Rollinson S., Thompson J.C., Harris J.M., Stopford C.L., Richardson A.M., Jones M., Gerhard A., Davidson Y.S., Robinson A., Gibbons L., Hu Q., DuPlessis D., Neary D., Mann D.M., Pickering-Brown S.M. Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations. Brain 2012, 135:693-708.
-
(2012)
Brain
, vol.135
, pp. 693-708
-
-
Snowden, J.S.1
Rollinson, S.2
Thompson, J.C.3
Harris, J.M.4
Stopford, C.L.5
Richardson, A.M.6
Jones, M.7
Gerhard, A.8
Davidson, Y.S.9
Robinson, A.10
Gibbons, L.11
Hu, Q.12
DuPlessis, D.13
Neary, D.14
Mann, D.M.15
Pickering-Brown, S.M.16
-
42
-
-
84857921617
-
Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in the C9ORF72 gene on chromosome 9p
-
Stewart H., Rutherford N.J., Briemberg H., Krieger C., Cashman N., Fabros M., Baker M., Fok A., DeJesus-Hernandez M., Eisen A., Rademakers R., Mackenzie I.R. Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in the C9ORF72 gene on chromosome 9p. Acta Neuropathol. 2012, 123:409-417.
-
(2012)
Acta Neuropathol.
, vol.123
, pp. 409-417
-
-
Stewart, H.1
Rutherford, N.J.2
Briemberg, H.3
Krieger, C.4
Cashman, N.5
Fabros, M.6
Baker, M.7
Fok, A.8
DeJesus-Hernandez, M.9
Eisen, A.10
Rademakers, R.11
Mackenzie, I.R.12
-
43
-
-
84866085904
-
Frontotemporal dementia in a Brazilian kindred with the c9orf72 mutation
-
Takada L.T., Pimentel M.L., Dejesus-Hernandez M., Fong J.C., Yokoyama J.S., Karydas A., Thibodeau M.P., Rutherford N.J., Baker M.C., Lomen-Hoerth C., Rademakers R., Miller B.L. Frontotemporal dementia in a Brazilian kindred with the c9orf72 mutation. Arch. Neurol. 2012, 69:1149-1153.
-
(2012)
Arch. Neurol.
, vol.69
, pp. 1149-1153
-
-
Takada, L.T.1
Pimentel, M.L.2
Dejesus-Hernandez, M.3
Fong, J.C.4
Yokoyama, J.S.5
Karydas, A.6
Thibodeau, M.P.7
Rutherford, N.J.8
Baker, M.C.9
Lomen-Hoerth, C.10
Rademakers, R.11
Miller, B.L.12
-
44
-
-
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
-
45
-
-
76349115779
-
Genetic contribution of FUS to frontotemporal lobar degeneration
-
Van Langenhove T., van der Zee J., Sleegers K., Engelborghs S., Vandenberghe R., Gijselinck I., Van den Broeck M., Mattheijssens M., Peeters K., De Deyn P.P., Cruts M., Van Broeckhoven C. Genetic contribution of FUS to frontotemporal lobar degeneration. Neurology 2010, 74:366-371.
-
(2010)
Neurology
, vol.74
, pp. 366-371
-
-
Van Langenhove, T.1
van der Zee, J.2
Sleegers, K.3
Engelborghs, S.4
Vandenberghe, R.5
Gijselinck, I.6
Van den Broeck, M.7
Mattheijssens, M.8
Peeters, K.9
De Deyn, P.P.10
Cruts, M.11
Van Broeckhoven, C.12
-
46
-
-
84866111128
-
FTD/ALS families are no longer orphaned: the C9ORF72 story
-
van Swieten J.C., Grossman M. FTD/ALS families are no longer orphaned: the C9ORF72 story. Neurology 2012, 79:962-964.
-
(2012)
Neurology
, vol.79
, pp. 962-964
-
-
van Swieten, J.C.1
Grossman, M.2
-
47
-
-
1842483843
-
Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein
-
Watts G., Wymer J., Kovach M., Mehta S., Mumm S., Darvish D., Pestronk A., Whyte M., Kimonis V. Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. Nat. Genet. 2004, 36:377-381.
-
(2004)
Nat. Genet.
, vol.36
, pp. 377-381
-
-
Watts, G.1
Wymer, J.2
Kovach, M.3
Mehta, S.4
Mumm, S.5
Darvish, D.6
Pestronk, A.7
Whyte, M.8
Kimonis, V.9
-
48
-
-
0028073692
-
Localization of disinhibition-dementia-parkinsonism-amyotrophy complex to 17q21-22
-
Wilhelmsen K.C., Lynch T., Pavlou E., Higgins M., Nygaard T.G. Localization of disinhibition-dementia-parkinsonism-amyotrophy complex to 17q21-22. Am. J. Hum. Genet. 1994, 55:1159-1165.
-
(1994)
Am. J. Hum. Genet.
, vol.55
, pp. 1159-1165
-
-
Wilhelmsen, K.C.1
Lynch, T.2
Pavlou, E.3
Higgins, M.4
Nygaard, T.G.5
-
49
-
-
84875241102
-
Screening for C9orf72 repeat expansions inChinese amyotrophic lateral sclerosis patients
-
Zou Z.Y., Li X.G., Liu M.S., Cui L.Y. Screening for C9orf72 repeat expansions inChinese 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
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