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Autor:
Johnson, JO, Chia, R, Miller, DE, Li, R, Kumaran, R, Abramzon, Y, Alahmady, N, Renton, AE, Topp, SD, Gibbs, JR, Cookson, MR, Sabir, MS, Dalgard, CL, Troakes, C, Jones, AR, Shatunov, A, Iacoangeli, A, Al Khleifat, A, Ticozzi, N, Silani, V, Gellera, C, Blair, IP, Dobson-Stone, C, Kwok, JB, Bonkowski, ES, Palvadeau, R, Tienari, PJ, Morrison, KE, Shaw, PJ, Al-Chalabi, A, Brown, RH, Calvo, A, Mora, G, Al-Saif, H, Gotkine, M, Leigh, F, Chang, IJ, Perlman, SJ, Glass, I, Scott, AI, Shaw, CE, Basak, AN, Landers, JE, Chiò, A, Crawford, TO, Smith, BN, Traynor, BJ, Fallini, C, Gkazi, AS, Scotter, EL, Kenna, KP, Keagle, P, Tiloca, C, Vance, C, Colombrita, C, King, A, Pensato, V, Castellotti, B, Baas, F, ten Asbroek, ALMA, McKenna-Yasek, D, McLaughlin, RL, Polak, M, Asress, S, Esteban-Pérez, J, Stevic, Z, D’Alfonso, S, Mazzini, L, Comi, GP, Del Bo, R, Ceroni, M, Gagliardi, S, Querin, G, Bertolin, C, van Rheenen, W, Rademakers, R, van Blitterswijk, M, Lauria, G, Duga, S, Corti, S, Cereda, C, Corrado, L, Sorarù, G, Williams, KL, Nicholson, GA, Leblond-Manry, C, Rouleau, GA, Hardiman, O, Veldink, JH, van den Berg, LH, Pall, H, Turner, MR, Talbot, K, Taroni, F, García-Redondo, A, Wu, Z, Glass, JD, Ratti, A, Adeleye, A, Soltis, AR, Alba, C, Viollet, C, Bacikova, D, Hupalo, DN, Sukumar, G, Pollard, HB, Wilkerson, MD, Martinez, EM, Ahmed, S, Arepalli, S, Baloh, RH, Bowser, R, Brady, CB, Brice, A, Broach, J, Campbell, RH, Camu, W, Cooper-Knock, J, Ding, J, Drepper, C, Drory, VE, Dunckley, TL, Eicher, JD, England, BK, Faghri, F, Feldman, E, Floeter, MK, Fratta, P, Geiger, JT, Gerhard, G, Gibson, SB, Hardy, J, Harms, MB, Heiman-Patterson, TD, Hernandez, DG, Jansson, L, Kirby, J, Kowall, NW, Laaksovirta, H, Landeck, N, Landi, F, Le Ber, I, Lumbroso, S, MacGowan, DJL, Maragakis, NJ, Mouzat, K, Murphy, NA, Myllykangas, L, Nalls, MA, Orrell, RW, Ostrow, LW, Pamphlett, R, Pickering-Brown, S, Pioro, EP, Pletnikova, O, Pliner, HA, Pulst, SM, Ravits, JM, Rivera, A, Robberecht, W, Rogaeva, E, Rollinson, S, Rothstein, JD, Scholz, SW, Sendtner, M, Sidle, KC, Simmons, Z, Singleton, AB, Smith, N, Stone, DJ, Troncoso, JC, Valori, M, Van Damme, P, Van Deerlin, VM, Van Den Bosch, L, Zinman, L, Angelocola, SM, Ausiello, FP, Barberis, M, Bartolomei, I, Battistini, S, Bersano, E, Bisogni, G, Borghero, G, Brunetti, M, Cabona, C, Canale, F, Canosa, A, Cantisani, TA, Capasso, M, Caponnetto, C, Cardinali, P, Carrera, P, Casale, F, Colletti, T, Conforti, FL, Conte, A, Conti, E, Corbo, M, Cuccu, S, Dalla Bella, E, D’Errico, E, DeMarco, G, Dubbioso, R, Ferrarese, C, Ferraro, PM, Filippi, M, Fini, N, Floris, G, Fuda, G, Gallone, S, Gianferrari, G, Giannini, F, Grassano, M, Greco, L, Iazzolino, B, Introna, A, La Bella, V, Lattante, S, Liguori, R, Logroscino, G, Logullo, FO, Lunetta, C, Mandich, P, Mandrioli, J, Manera, U, Manganelli, F, Marangi, G, Marinou, K, Marrosu, MG, Martinelli, I, Messina, S, Moglia, C, Mosca, L, Murru, MR, Origone, P, Passaniti, C, Petrelli, C, Petrucci, A, Pozzi, S, Pugliatti, M, Quattrini, A, Ricci, C, Riolo, G, Riva, N, Russo, M, Sabatelli, M, Salamone, P, Salivetto, M, Salvi, F, Santarelli, M, Sbaiz, L, Sideri, R, Simone, I, Simonini, C, Spataro, R, Tanel, R, Tedeschi, G, Ticca, A, Torriello, A, Tranquilli, S, Tremolizzo, L, Trojsi, F, Vasta, R, Vacchiano, V, Vita, G, Volanti, P, Zollino, M, Zucchi, E
Publikováno v:
ITALSGEN Consortium, International ALS Genomics Consortium, American Genome Center & FALS Sequencing Consortium 2021, ' Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis ', JAMA Neurology, vol. 78, no. 10, pp. 1236-1248 . https://doi.org/10.1001/jamaneurol.2021.2598
JAMA Neurology, 78(10), 1236-1248. AMER MEDICAL ASSOC
JAMA Neurology
Johnson, J O, Chia, R, Miller, D E, Li, R, Kumaran, R, Abramzon, Y, Alahmady, N, Renton, A E, Topp, S D, Gibbs, J R, Cookson, M R, Sabir, M S, Dalgard, C L, Troakes, C, Jones, A R, Shatunov, A, Iacoangeli, A, Al Khleifat, A, Ticozzi, N, Silani, V, Gellera, C, Blair, I P, Dobson-Stone, C, Kwok, J B, Bonkowski, E S, Palvadeau, R, Tienari, P J, Morrison, K E, Shaw, P J, Al-Chalabi, A, Brown, R H, Calvo, A, Mora, G, Al-Saif, H, Gotkine, M, Leigh, F, Chang, I J, Perlman, S J, Glass, I, Scott, A I, Shaw, C E, Basak, A N, Landers, J E, Chiò, A, Crawford, T O, Smith, B N, Traynor, B J, Smith, B N, Ticozzi, N, Fallini, C, Gkazi, A S, Topp, S D, Scotter, E L, Kenna, K P, Keagle, P, Tiloca, C, Vance, C, Troakes, C, Colombrita, C, King, A, Pensato, V, Castellotti, B, Baas, F, Ten Asbroek, A L M A, McKenna-Yasek, D, McLaughlin, R L, Polak, M, Asress, S, Esteban-Pérez, J, Stevic, Z, D'Alfonso, S, Mazzini, L, Comi, G P, Del Bo, R, Ceroni, M, Gagliardi, S, Querin, G, Bertolin, C, Van Rheenen, W, Rademakers, R, Van Blitterswijk, M, Lauria, G, Duga, S, Corti, S, Cereda, C, Corrado, L, Sorarù, G, Williams, K L, Nicholson, G A, Blair, I P, Leblond-Manry, C, Rouleau, G A, Hardiman, O, Morrison, K E, Veldink, J H, Van Den Berg, L H, Al-Chalabi, A, Pall, H, Shaw, P J, Turner, M R, Talbot, K, Taroni, F, García-Redondo, A, Wu, Z, Glass, J D, Gellera, C, Ratti, A, Brown, R H, Silani, V, Shaw, C E, Landers, J E, Dalgard, C L, Adeleye, A, Soltis, A R, Alba, C, Viollet, C, Bacikova, D, Hupalo, D N, Sukumar, G, Pollard, H B, Wilkerson, M D, Martinez, E M G, Abramzon, Y, Ahmed, S, Arepalli, S, Baloh, R H, Bowser, R, Brady, C B, Brice, A, Broach, J, Campbell, R H, Camu, W, Chia, R, Cooper-Knock, J, Ding, J, Drepper, C, Drory, V E, Dunckley, T L, Eicher, J D, England, B K, Faghri, F, Feldman, E, Floeter, M K, Fratta, P, Geiger, J T, Gerhard, G, Gibbs, J R, Gibson, S B, Glass, J D, Hardy, J, Harms, M B, Heiman-Patterson, T D, Hernandez, D G, Jansson, L, Kirby, J, Kowall, N W, Laaksovirta, H, Landeck, N, Landi, F, Le Ber, I, Lumbroso, S, Macgowan, D J L, Maragakis, N J, Mora, G, Mouzat, K, Murphy, N A, Myllykangas, L, Nalls, M A, Orrell, R W, Ostrow, L W, Pamphlett, R, Pickering-Brown, S, Pioro, E P, Pletnikova, O, Pliner, H A, Pulst, S M, Ravits, J M, Renton, A E, Rivera, A, Robberecht, W, Rogaeva, E, Rollinson, S, Rothstein, J D, Scholz, S W, Sendtner, M, Shaw, P J, Sidle, K C, Simmons, Z, Singleton, A B, Smith, N, Stone, D J, Tienari, P J, Troncoso, J C, Valori, M, Van Damme, P, Van Deerlin, V M, Van Den Bosch, L, Zinman, L, Landers, J E, Chiò, A, Traynor, B J, Angelocola, S M, Ausiello, F P, Barberis, M, Bartolomei, I, Battistini, S, Bersano, E, Bisogni, G, Borghero, G, Brunetti, M, Cabona, C, Calvo, A, Canale, F, Canosa, A, Cantisani, T A, Capasso, M, Caponnetto, C, Cardinali, P, Carrera, P, Casale, F, Chiò, A, Colletti, T, Conforti, F L, Conte, A, Conti, E, Corbo, M, Cuccu, S, Dalla Bella, E, D'Errico, E, Demarco, G, Dubbioso, R, Ferrarese, C, Ferraro, P M, Filippi, M, Fini, N, Floris, G, Fuda, G, Gallone, S, Gianferrari, G, Giannini, F, Grassano, M, Greco, L, Iazzolino, B, Introna, A, La Bella, V, Lattante, S, Lauria, G, Liguori, R, Logroscino, G, Logullo, F O, Lunetta, C, Mandich, P, Mandrioli, J, Manera, U, Manganelli, F, Marangi, G, Marinou, K, Marrosu, M G, Martinelli, I, Messina, S, Moglia, C, Mora, G, Mosca, L, Murru, M R, Origone, P, Passaniti, C, Petrelli, C, Petrucci, A, Pozzi, S, Pugliatti, M, Quattrini, A, Ricci, C, Riolo, G, Riva, N, Russo, M, Sabatelli, M, Salamone, P, Salivetto, M, Salvi, F, Santarelli, M, Sbaiz, L, Sideri, R, Simone, I, Simonini, C, Spataro, R, Tanel, R, Tedeschi, G, Ticca, A, Torriello, A, Tranquilli, S, Tremolizzo, L, Trojsi, F, Vasta, R, Vacchiano, V, Vita, G, Volanti, P, Zollino, M & Zucchi, E 2021, ' Association of variants in the SPTLC1 gene with juvenile amyotrophic lateral sclerosis ', JAMA Neurology, vol. 78, no. 10, pp. 1236-1248 . https://doi.org/10.1001/jamaneurol.2021.2598
JAMA Neurology, 78(10), 1236-1248. American Medical Association
JAMA Neurology, 78(10), 1236-1248. AMER MEDICAL ASSOC
JAMA Neurology
Johnson, J O, Chia, R, Miller, D E, Li, R, Kumaran, R, Abramzon, Y, Alahmady, N, Renton, A E, Topp, S D, Gibbs, J R, Cookson, M R, Sabir, M S, Dalgard, C L, Troakes, C, Jones, A R, Shatunov, A, Iacoangeli, A, Al Khleifat, A, Ticozzi, N, Silani, V, Gellera, C, Blair, I P, Dobson-Stone, C, Kwok, J B, Bonkowski, E S, Palvadeau, R, Tienari, P J, Morrison, K E, Shaw, P J, Al-Chalabi, A, Brown, R H, Calvo, A, Mora, G, Al-Saif, H, Gotkine, M, Leigh, F, Chang, I J, Perlman, S J, Glass, I, Scott, A I, Shaw, C E, Basak, A N, Landers, J E, Chiò, A, Crawford, T O, Smith, B N, Traynor, B J, Smith, B N, Ticozzi, N, Fallini, C, Gkazi, A S, Topp, S D, Scotter, E L, Kenna, K P, Keagle, P, Tiloca, C, Vance, C, Troakes, C, Colombrita, C, King, A, Pensato, V, Castellotti, B, Baas, F, Ten Asbroek, A L M A, McKenna-Yasek, D, McLaughlin, R L, Polak, M, Asress, S, Esteban-Pérez, J, Stevic, Z, D'Alfonso, S, Mazzini, L, Comi, G P, Del Bo, R, Ceroni, M, Gagliardi, S, Querin, G, Bertolin, C, Van Rheenen, W, Rademakers, R, Van Blitterswijk, M, Lauria, G, Duga, S, Corti, S, Cereda, C, Corrado, L, Sorarù, G, Williams, K L, Nicholson, G A, Blair, I P, Leblond-Manry, C, Rouleau, G A, Hardiman, O, Morrison, K E, Veldink, J H, Van Den Berg, L H, Al-Chalabi, A, Pall, H, Shaw, P J, Turner, M R, Talbot, K, Taroni, F, García-Redondo, A, Wu, Z, Glass, J D, Gellera, C, Ratti, A, Brown, R H, Silani, V, Shaw, C E, Landers, J E, Dalgard, C L, Adeleye, A, Soltis, A R, Alba, C, Viollet, C, Bacikova, D, Hupalo, D N, Sukumar, G, Pollard, H B, Wilkerson, M D, Martinez, E M G, Abramzon, Y, Ahmed, S, Arepalli, S, Baloh, R H, Bowser, R, Brady, C B, Brice, A, Broach, J, Campbell, R H, Camu, W, Chia, R, Cooper-Knock, J, Ding, J, Drepper, C, Drory, V E, Dunckley, T L, Eicher, J D, England, B K, Faghri, F, Feldman, E, Floeter, M K, Fratta, P, Geiger, J T, Gerhard, G, Gibbs, J R, Gibson, S B, Glass, J D, Hardy, J, Harms, M B, Heiman-Patterson, T D, Hernandez, D G, Jansson, L, Kirby, J, Kowall, N W, Laaksovirta, H, Landeck, N, Landi, F, Le Ber, I, Lumbroso, S, Macgowan, D J L, Maragakis, N J, Mora, G, Mouzat, K, Murphy, N A, Myllykangas, L, Nalls, M A, Orrell, R W, Ostrow, L W, Pamphlett, R, Pickering-Brown, S, Pioro, E P, Pletnikova, O, Pliner, H A, Pulst, S M, Ravits, J M, Renton, A E, Rivera, A, Robberecht, W, Rogaeva, E, Rollinson, S, Rothstein, J D, Scholz, S W, Sendtner, M, Shaw, P J, Sidle, K C, Simmons, Z, Singleton, A B, Smith, N, Stone, D J, Tienari, P J, Troncoso, J C, Valori, M, Van Damme, P, Van Deerlin, V M, Van Den Bosch, L, Zinman, L, Landers, J E, Chiò, A, Traynor, B J, Angelocola, S M, Ausiello, F P, Barberis, M, Bartolomei, I, Battistini, S, Bersano, E, Bisogni, G, Borghero, G, Brunetti, M, Cabona, C, Calvo, A, Canale, F, Canosa, A, Cantisani, T A, Capasso, M, Caponnetto, C, Cardinali, P, Carrera, P, Casale, F, Chiò, A, Colletti, T, Conforti, F L, Conte, A, Conti, E, Corbo, M, Cuccu, S, Dalla Bella, E, D'Errico, E, Demarco, G, Dubbioso, R, Ferrarese, C, Ferraro, P M, Filippi, M, Fini, N, Floris, G, Fuda, G, Gallone, S, Gianferrari, G, Giannini, F, Grassano, M, Greco, L, Iazzolino, B, Introna, A, La Bella, V, Lattante, S, Lauria, G, Liguori, R, Logroscino, G, Logullo, F O, Lunetta, C, Mandich, P, Mandrioli, J, Manera, U, Manganelli, F, Marangi, G, Marinou, K, Marrosu, M G, Martinelli, I, Messina, S, Moglia, C, Mora, G, Mosca, L, Murru, M R, Origone, P, Passaniti, C, Petrelli, C, Petrucci, A, Pozzi, S, Pugliatti, M, Quattrini, A, Ricci, C, Riolo, G, Riva, N, Russo, M, Sabatelli, M, Salamone, P, Salivetto, M, Salvi, F, Santarelli, M, Sbaiz, L, Sideri, R, Simone, I, Simonini, C, Spataro, R, Tanel, R, Tedeschi, G, Ticca, A, Torriello, A, Tranquilli, S, Tremolizzo, L, Trojsi, F, Vasta, R, Vacchiano, V, Vita, G, Volanti, P, Zollino, M & Zucchi, E 2021, ' Association of variants in the SPTLC1 gene with juvenile amyotrophic lateral sclerosis ', JAMA Neurology, vol. 78, no. 10, pp. 1236-1248 . https://doi.org/10.1001/jamaneurol.2021.2598
JAMA Neurology, 78(10), 1236-1248. American Medical Association
Key Points Question What genetic variants are associated with juvenile amyotrophic lateral sclerosis (ALS)? Findings In this family-based genetic study, exome sequencing was performed in 3 patients diagnosed with juvenile ALS and failure to thrive; t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10862114c06ef9a5b843bbe1b0efa405
https://hdl.handle.net/11585/852152
https://hdl.handle.net/11585/852152
Autor:
Spronk, D.B., Veth, C.P.M., Arns, M., Schofield, P.R., Dobson-Stone, C., Ramaekers, J.G., Franke, B., de Bruijn, E.R.A., Verkes, R.J.
Publikováno v:
In Clinical Neurophysiology May 2013 124(5):909-915
Autor:
Zhang M1, 2 3, Ferrari R4, Tartaglia MC3, 5 6, Keith J7, Surace EI8, Wolf U9, Sato C3, Grinberg M3, Liang Y3, Xi Z3, Dupont K3, McGoldrick P3, Weichert A3, McKeever PM3, Schneider R3, 6 7, McCorkindale MD4, Manzoni C10, Rademakers R11, Graff-Radford NR12, Dickson DW11, Parisi JE13, Boeve BF14, Petersen RC14, Miller BL15, Seeley WW16, van Swieten JC17, van Rooij J17, Pijnenburg Y18, van der Zee J19, Van Broeckhoven C19, Le Ber I21, Van Deerlin V23, Suh E23, Rohrer JD24, Mead S25, Graff C26, Öijerstedt L26, Pickering-Brown S28, Rollinson S28, Rossi G29, Tagliavini F30, Brooks WS31, Dobson-Stone C32, Halliday GM32, Hodges JR32, Piguet O34, Binetti G36, Benussi L37, Ghidoni R37, Nacmias B38, Sorbi S38, Bruni AC40, Galimberti D41, Scarpini E41, Rainero I42, Rubino E42, Clarimon J43, Lleó A43, Ruiz A45, Hernández I45, Pastor P46, Diez-Fairen M46, Borroni B48, Pasquier F49, Deramecourt V49, Lebouvier T49, Perneczky R50, 51 52, Diehl-Schmid J50, Grafman J53, Huey ED55, Mayeux R55, Nalls MA57, Hernandez D57, Singleton A57, Momeni P58, Zeng Z59, Hardy J4, Robertson J3, Zinman L6, 7, Rogaeva E3, 6, International FTD-Genomics Consortium (IFGC), Ferrari R, Hernandez DG, Nalls MA, Rohrer JD, Ramasamy A, Kwok JBJ, Dobson-Stone C, Brooks WS, Schofield PR, Halliday GM, Hodges JR, Piguet O, Bartley L, Thompson E, Hernández I, Ruiz A, Boada M, Borroni B, Padovani A, Cruchaga C, Cairns NJ, Benussi L, Binetti G, Ghidoni R, Forloni G, Albani D, Galimberti D, Fenoglio C, Serpente M, Scarpini E, Clarimón J, Lleó A, Blesa R, Wald Ouml ML, Nilsson K, Nilsson C, Mackenzie IRA, Hsiung GR, Mann DMA, Grafman J, Morris CM, Attems J, Griffiths TD, McKeith IG, Thomas AJ, Pietrini P, Huey ED, Wassermann EM, Baborie A, Jaros E, Tierney MC, Pastor P, Razquin C, Ortega-Cubero S, Alonso E, Perneczky R, Diehl-Schmid J, Alexopoulos P, Kurz A, Rainero I, Rubino E, Pinessi L, Rogaeva E, St George-Hyslop P, Rossi G, Tagliavini F, Giaccone G, Rowe JB, Schlachetzki JCM, Uphill J, Collinge J, Mead S, Danek A, Van Deerlin VM, Grossman M, Trojanowski JQ, van der Zee J, Van Broeckhoven C, Cappa SF, Leber I, Hannequin D, Golfier V, Vercelletto M, Brice A, Nacmias B, Sorbi S, Bagnoli S, Piaceri I, Nielsen JE, Hjermind LE, Riemenschneider M, Mayhaus M, Ibach B, Gasparoni G, Pichler S, Gu W, Rossor MN, Fox NC, Warren JD, Grazia Spillantini M, Morris HR, Rizzu P, Heutink P, Snowden JS, Rollinson S, Richardson A, Gerhard A, Bruni AC, Maletta R, Frangipane F, Cupidi C, Bernardi L, Anfossi M, Gallo M, Elena Conidi M, Smirne N, Rademakers R, Baker M, Dickson DW, Graff-Radford NR, Petersen RC, Knopman D, Josephs KA, Boeve BF, Parisi JE, Seeley WW, Miller BL, Karydas AM, Rosen H, van Swieten JC, Dopper EGP, Seelaar H, Pijnenburg YAL, Scheltens P, Logroscino G, Capozzo R, Novelli V, Puca AA, Franceschi M, Postiglione A, Milan G, Sorrentino P, Kristiansen M, Chiang HH, Graff C, Pasquier F, Rollin A, Deramecourt V, Lebouvier T, Kapogiannis D, Ferrucci L, Pickering-Brown S, Singleton AB, Hardy J, Momeni P
Publikováno v:
Brain, 141(10), 2895-2907. Oxford University Press
Brain
Zhang, M, Ferrari, R, Tartaglia, M C, Keith, J, Surace, E I, Wolf, U, Sato, C, Grinberg, M, Liang, Y, Xi, Z, Dupont, K, McGoldrick, P, Weichert, A, McKeever, P M, Schneider, R, McCorkindale, M D, Manzoni, C, Rademakers, R, Graff-Radford, N R, Dickson, D W, Parisi, J E, Boeve, B F, Petersen, R C, Miller, B L, Seeley, W W, van Swieten, J C, van Rooij, J, Pijnenburg, Y, van der Zee, J, van Broeckhoven, C, le Ber, I, van Deerlin, V, Suh, E, Rohrer, J D, Mead, S, Graff, C, Öijerstedt, L, Pickering-Brown, S, Rollinson, S, Rossi, G, Tagliavini, F, Brooks, W S, Dobson-Stone, C, Halliday, G M, Hodges, J R, Piguet, O, Binetti, G, Benussi, L, Ghidoni, R, Nacmias, B, Sorbi, S, Bruni, A C, Galimberti, D, Scarpini, E, Rainero, I, Rubino, E, Clarimon, J, Lleó, A, Ruiz, A, Hernández, I, Pastor, P, Diez-Fairen, M, Borroni, B, Pasquier, F, Deramecourt, V, Lebouvier, T, Perneczky, R, Diehl-Schmid, J, Grafman, J, Huey, E D, Mayeux, R, Nalls, M A, Hernandez, D, Singleton, A, Momeni, P, Zeng, Z, Hardy, J, Robertson, J, Zinman, L & Rogaeva, E 2018, ' A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers ', Brain, vol. 141, no. 10, pp. 2895-2907 . https://doi.org/10.1093/brain/awy238
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
BRAIN
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Brain, 141, 2895-2907. Oxford University Press
Brain
Zhang, M, Ferrari, R, Tartaglia, M C, Keith, J, Surace, E I, Wolf, U, Sato, C, Grinberg, M, Liang, Y, Xi, Z, Dupont, K, McGoldrick, P, Weichert, A, McKeever, P M, Schneider, R, McCorkindale, M D, Manzoni, C, Rademakers, R, Graff-Radford, N R, Dickson, D W, Parisi, J E, Boeve, B F, Petersen, R C, Miller, B L, Seeley, W W, van Swieten, J C, van Rooij, J, Pijnenburg, Y, van der Zee, J, van Broeckhoven, C, le Ber, I, van Deerlin, V, Suh, E, Rohrer, J D, Mead, S, Graff, C, Öijerstedt, L, Pickering-Brown, S, Rollinson, S, Rossi, G, Tagliavini, F, Brooks, W S, Dobson-Stone, C, Halliday, G M, Hodges, J R, Piguet, O, Binetti, G, Benussi, L, Ghidoni, R, Nacmias, B, Sorbi, S, Bruni, A C, Galimberti, D, Scarpini, E, Rainero, I, Rubino, E, Clarimon, J, Lleó, A, Ruiz, A, Hernández, I, Pastor, P, Diez-Fairen, M, Borroni, B, Pasquier, F, Deramecourt, V, Lebouvier, T, Perneczky, R, Diehl-Schmid, J, Grafman, J, Huey, E D, Mayeux, R, Nalls, M A, Hernandez, D, Singleton, A, Momeni, P, Zeng, Z, Hardy, J, Robertson, J, Zinman, L & Rogaeva, E 2018, ' A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers ', Brain, vol. 141, no. 10, pp. 2895-2907 . https://doi.org/10.1093/brain/awy238
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
BRAIN
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Brain, 141, 2895-2907. Oxford University Press
Discovery of disease age-of-onset modifiers is important for clinical trials and drug design. Zhang et al. perform a genome-wide analysis of epigenetic functional polymorphisms and identify an association between the C6orf10/LOC101929163 locus and ag
Autor:
van der Lee, Sven J., Conway, Olivia J., Jansen, Iris, Carrasquillo, Minerva M., Kleineidam, Luca, van den Akker, Erik, Hernández, Isabel, van Eijk, Kristel R., Stringa, Najada, Chen, Jason A., Zettergren, Anna, Andlauer, Till F.M., Diez-Fairen, Monica, Simon-Sanchez, Javier, Lleó, Alberto, Zetterberg, Henrik, Nygaard, Marianne, Blauwendraat, Cornelis, Savage, Jeanne E., Mengel-From, Jonas, Moreno-Grau, Sonia, Wagner, Michael, Fortea, Juan, Keogh, Michael J., Blennow, Kaj, Skoog, Ingmar, Friese, Manuel A., Pletnikova, Olga, Zulaica, Miren, Lage, Carmen, de Rojas, Itziar, Riedel-Heller, Steffi, Illán-Gala, Ignacio, Wei, Wei, Jeune, Bernard, Orellana, Adelina, Then Bergh, Florian, Wang, Xue, Hulsman, Marc, Beker, Nina, Tesi, Niccolo, Morris, Christopher M., Indakoetxea, Begoña, Collij, Lyduine E., Scherer, Martin, Morenas-Rodríguez, Estrella, Ironside, James W., van Berckel, Bart N.M., Alcolea, Daniel, Wiendl, Heinz, Strickland, Samantha L., Pastor, Pau, Rodríguez Rodríguez, Eloy, Mead, S., Synofzik, M., van Swieten, J. C., Leber, I., Ferrari, R., Hernandez, D. G., Nalls, M. A., Rohrer, J. D., Ramasamy, A., Kwok, J. B.J., Dobson-Stone, C., Schofield, P. R., Halliday, G. M., Hodges, J. R., Piguet, O., Bartley, L., Thompson, E., Borroni, B., Padovani, A., Cruchaga, C., Cairns, N. J., Benussi, L., Binetti, G., Ghidoni, R., Forloni, G., Albani, D., Galimberti, D., Fenoglio, C., Serpente, M., Scarpini, E., Blesa, R., Landqvist Waldö, M., Nilsson, K., Nilsson, C., Mackenzie, I. R.A., Hsiung, G. Y.R., Mann, D. M.A., Grafman, J., Morris, C. M., Attems, J., Griffiths, T. D., McKeith, I. G., Thomas, A. J., Pietrini, P., Huey, E. D., Wassermann, E. M., Baborie, A., Jaros, E., Tierney, M. C., Razquin, C., Ortega-Cubero, S., Alonso, E., Perneczky, R., Diehl-Schmid, J., Alexopoulos, P., Kurz, A., Rainero, I., Rubino, E., Pinessi, L., Rogaeva, E., St George-Hyslop, P., Rossi, G., Tagliavini, F., Giaccone, G., Rowe, J. B., Schlachetzki, J. C.M., Uphill, J., Collinge, J., Danek, A., Van Deerlin, V. M., Grossman, M., Trojanowski, J. Q., van der Zee, J., Van Broeckhoven, C., Cappa, S. F., Hannequin, D., Golfier, V., Vercelletto, M., Brice, A., Nacmias, B., Sorbi, S., Bagnoli, S., Piaceri, I., Nielsen, J. E., Hjermind, L. E., Riemenschneider, M., Mayhaus, M., Ibach, B., Gasparoni, G., Pichler, S., Gu, W., Rossor, M. N., Fox, N. C., Warren, J. D., Spillantini, M. G., Morris, H. R., Rizzu, P., Snowden, J. S., Rollinson, S., Richardson, A., Gerhard, A., Bruni, A. C., Maletta, R., Frangipane, F., Cupidi, C., Bernardi, L., Anfossi, M., Gallo, M., Conidi, M. E., Smirne, N., Baker, M., Josephs, K. A., Parisi, J. E., Seeley, W. W., Miller, B. L., Karydas, A. M., Rosen, H., Dopper, E. G.P., Seelaar, H., Logroscino, G., Capozzo, R., Novelli, V., Puca, A. A., Franceschi, M., Postiglione, A., Milan, G., Sorrentino, P., Kristiansen, M., Chiang, H. H., Graff, C., Pasquier, F., Rollin, A., Deramecourt, V., Lebouvier, T., Kapogiannis, D., Ferrucci, L., Pickering-Brown, S., Singleton, A. B., Hardy, J., Momeni, P., Boeve, Bradley F., Petersen, Ronald C., Ferman, Tanis J., van Gerpen, Jay A., Reinders, Marcel J.T., Uitti, Ryan J., Tárraga, Lluís, Maier, Wolfgang, Dols-Icardo, Oriol, Kawalia, Amit, Dalmasso, Maria Carolina, Boada, Mercè, Zettl, Uwe K., van Schoor, Natasja M., Beekman, Marian, Allen, Mariet, Masliah, Eliezer, de Munain, Adolfo López, Pantelyat, Alexander, Wszolek, Zbigniew K., Ross, Owen A., Dickson, Dennis W., Graff-Radford, Neill R., Knopman, David, Rademakers, Rosa, Lemstra, Afina W., Pijnenburg, Yolande A.L., Scheltens, Philip, Gasser, Thomas, Chinnery, Patrick F., Hemmer, Bernhard, Huisman, Martijn A., Troncoso, Juan, Moreno, Fermin, Nohr, Ellen A., Sørensen, Thorkild I.A., Heutink, Peter, Sánchez-Juan, Pascual, Posthuma, Danielle, Coppola, G., Varpetian, A., Foroud, T. M., Levey, A. I., Kukull, W. A., Mendez, M. F., Ringman, J., Chui, H., Cotman, C., DeCarli, C., Geschwind, D. H., Clarimón, Jordi, Christensen, Kaare, Ertekin-Taner, Nilüfer, Scholz, Sonja W., Ramirez, Alfredo, Ruiz, Agustín, Slagboom, Eline, van der Flier, Wiesje M., Holstege, Henne
Publikováno v:
van der Lee, S J, Conway, O J, Jansen, I, Carrasquillo, M M, Kleineidam, L, van den Akker, E, Hernández, I, van Eijk, K R, Stringa, N, Chen, J A, Zettergren, A, Andlauer, T F M, Diez-Fairen, M, Simon-Sanchez, J, Lleó, A, Zetterberg, H, Nygaard, M, Blauwendraat, C, Savage, J E, Mengel-From, J, Moreno-Grau, S, Wagner, M, Fortea, J, Keogh, M J, Blennow, K, Skoog, I, Friese, M A, Pletnikova, O, Zulaica, M, Lage, C, de Rojas, I, Riedel-Heller, S, Illán-Gala, I, Wei, W, Jeune, B, Orellana, A, Then Bergh, F, Wang, X, Hulsman, M, Beker, N, Tesi, N, Morris, C M, Indakoetxea, B, Collij, L E, Scherer, M, Morenas-Rodríguez, E, Ironside, J W, van Berckel, B N M, Alcolea, D, Wiendl, H, Strickland, S L, Pastor, P, Rodríguez Rodríguez, E, Mead, S, Synofzik, M, van Swieten, J C, Leber, I, Ferrari, R, Hernandez, D G, Nalls, M A, Rohrer, J D, Ramasamy, A, Kwok, J B J, Dobson-Stone, C, Schofield, P R, Halliday, G M, Hodges, J R, Piguet, O, Bartley, L, Thompson, E, Borroni, B, Padovani, A, Cruchaga, C, Cairns, N J, Benussi, L, Binetti, G, Ghidoni, R, Forloni, G, Albani, D, Galimberti, D, Fenoglio, C, Serpente, M, Scarpini, E, Blesa, R, Landqvist Waldö, M, Nilsson, K, Nilsson, C, Mackenzie, I R A, Hsiung, G Y R, Mann, D M A, Grafman, J, Morris, C M, Attems, J, Griffiths, T D, McKeith, I G, Thomas, A J, Pietrini, P, Huey, E D, Wassermann, E M, Baborie, A, Jaros, E, Tierney, M C, Razquin, C, Ortega-Cubero, S, Alonso, E, Perneczky, R, Diehl-Schmid, J, Alexopoulos, P, Kurz, A, Rainero, I, Rubino, E, Pinessi, L, Rogaeva, E, St George-Hyslop, P, Rossi, G, Tagliavini, F, Giaccone, G, Rowe, J B, Schlachetzki, J C M, Uphill, J, Collinge, J, Danek, A, Van Deerlin, V M, Grossman, M, Trojanowski, J Q, van der Zee, J, Van Broeckhoven, C, Cappa, S F, Hannequin, D, Golfier, V, Vercelletto, M, Brice, A, Nacmias, B, Sorbi, S, Bagnoli, S, Piaceri, I, Nielsen, J E, Hjermind, L E, Riemenschneider, M, Mayhaus, M, Ibach, B, Gasparoni, G, Pichler, S, Gu, W, Rossor, M N, Fox, N C, Warren, J D, Spillantini, M G, Morris, H R, Rizzu, P, Snowden, J S, Rollinson, S, Richardson, A, Gerhard, A, Bruni, A C, Maletta, R, Frangipane, F, Cupidi, C, Bernardi, L, Anfossi, M, Gallo, M, Conidi, M E, Smirne, N, Baker, M, Josephs, K A, Parisi, J E, Seeley, W W, Miller, B L, Karydas, A M, Rosen, H, Dopper, E G P, Seelaar, H, Logroscino, G, Capozzo, R, Novelli, V, Puca, A A, Franceschi, M, Postiglione, A, Milan, G, Sorrentino, P, Kristiansen, M, Chiang, H H, Graff, C, Pasquier, F, Rollin, A, Deramecourt, V, Lebouvier, T, Kapogiannis, D, Ferrucci, L, Pickering-Brown, S, Singleton, A B, Hardy, J, Momeni, P, Boeve, B F, Petersen, R C, Ferman, T J, van Gerpen, J A, Reinders, M J T, Uitti, R J, Tárraga, L, Maier, W, Dols-Icardo, O, Kawalia, A, Dalmasso, M C, Boada, M, Zettl, U K, van Schoor, N M, Beekman, M, Allen, M, Masliah, E, de Munain, A L, Pantelyat, A, Wszolek, Z K, Ross, O A, Dickson, D W, Graff-Radford, N R, Knopman, D, Rademakers, R, Lemstra, A W, Pijnenburg, Y A L, Scheltens, P, Gasser, T, Chinnery, P F, Hemmer, B, Huisman, M A, Troncoso, J, Moreno, F, Nohr, E A, Sørensen, T I A, Heutink, P, Sánchez-Juan, P, Posthuma, D, Coppola, G, Karydas, A M, Varpetian, A, Foroud, T M, Levey, A I, Kukull, W A, Mendez, M F, Ringman, J, Chui, H, Cotman, C, DeCarli, C, Miller, B L, Geschwind, D H, Clarimón, J, Christensen, K, Ertekin-Taner, N, Scholz, S W, Ramirez, A, Ruiz, A, Slagboom, E, van der Flier, W M, Holstege, H, EADB (Alzheimer Disease European DNA biobank), IFGC (International FTD-Genomics Consortium), IPDGC (The International Parkinson Disease Genomics Consortium), RiMod-FTD (Risk and Modifying factors in Fronto-Temporal Dementia), Netherlands Brain Bank (NBB), The GIFT (Genetic Investigation in Frontotemporal Dementia and Alzheimer’s Disease) Study Group & DESGESCO (Dementia Genetics Spanish Consortium) 2020, ' Correction to : A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity (Acta Neuropathologica, (2019), 138, 2, (237-250), 10.1007/s00401-019-02026-8) ', Acta Neuropathologica, vol. 139, no. 5, pp. 959-962 . https://doi.org/10.1007/s00401-019-02107-8
The IPDGC (The International Parkinson Disease Genomics Consortium) and EADB (Alzheimer Disease European DNA biobank) are listed correctly as an author to the article, however, they were incorrectly listed more than once.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_____10172::bcec2927e3d6baf821b0619af45e404a
https://research.vumc.nl/en/publications/d26eb6fa-f1be-4970-b034-171276054602
https://research.vumc.nl/en/publications/d26eb6fa-f1be-4970-b034-171276054602
Autor:
van der Lee, S. J., Conway, O. J., Jansen, I., Carrasquillo, M. M., Kleineidam, L., van den Akker, E., Hernandez, I., van Eijk, K. R., Stringa, N., Chen, J. A., Zettergren, A., Andlauer, T. F. M., Diez-Fairen, M., Simon-Sanchez, J., Lleo, A., Zetterberg, H., Nygaard, M., Blauwendraat, C., Savage, J. E., Mengel-From, J., Moreno-Grau, S., Wagner, M., Fortea, J., Keogh, M. J., Blennow, K., Skoog, I., Friese, M. A., Pletnikova, O., Zulaica, M., Lage, C., de Rojas, I., Riedel-Heller, S., Illan-Gala, I., Wei, W., Jeune, B., Orellana, A., Then Bergh, F., Wang, X., Hulsman, M., Beker, N., Tesi, N., Morris, C. M., Indakoetxea, B., Collij, L. E., Scherer, M., Morenas-Rodriguez, E., Ironside, J. W., van Berckel, B. N. M., Alcolea, D., Wiendl, H., Strickland, S. L., Pastor, P., Rodriguez Rodriguez, E., Mead, S., Synofzik, M., van Swieten, J. C., Leber, I., Ferrari, R., Hernandez, D. G., Nalls, M. A., Rohrer, J. D., Ramasamy, A., Kwok, J. B. J., Dobson-Stone, C., Schofield, P. R., Halliday, G. M., Hodges, J. R., Piguet, O., Bartley, L., Thompson, E., Borroni, B., Padovani, A., Cruchaga, C., Cairns, N. J., Benussi, L., Binetti, G., Ghidoni, R., Forloni, G., Albani, D., Galimberti, D., Fenoglio, C., Serpente, M., Scarpini, E., Blesa, R., Landqvist Waldo, M., Nilsson, K., Nilsson, C., Mackenzie, I. R. A., Hsiung, G. -Y. R., Mann, D. M. A., Grafman, J., Attems, J., Griffiths, T. D., Mckeith, I. G., Thomas, A. J., Pietrini, P., Huey, E. D., Wassermann, E. M., Baborie, A., Jaros, E., Tierney, M. C., Razquin, C., Ortega-Cubero, S., Alonso, E., Perneczky, R., Diehl-Schmid, J., Alexopoulos, P., Kurz, A., Rainero, I., Rubino, E., Pinessi, L., Rogaeva, E., St George-Hyslop, P., Rossi, G., Tagliavini, F., Giaccone, G., Rowe, J. B., Schlachetzki, J. C. M., Uphill, J., Collinge, J., Danek, A., Van Deerlin, V. M., Grossman, M., Trojanowski, J. Q., van der Zee, J., Van Broeckhoven, C., Cappa, S. F., Hannequin, D., Golfier, V., Vercelletto, M., Brice, A., Nacmias, B., Sorbi, S., Bagnoli, S., Piaceri, I., Nielsen, J. E., Hjermind, L. E., Riemenschneider, M., Mayhaus, M., Ibach, B., Gasparoni, G., Pichler, S., Gu, W., Rossor, M. N., Fox, N. C., Warren, J. D., Spillantini, M. G., Morris, H. R., Rizzu, P., Snowden, J. S., Rollinson, S., Richardson, A., Gerhard, A., Bruni, A. C., Maletta, R., Frangipane, F., Cupidi, C., Bernardi, L., Anfossi, M., Gallo, M., Conidi, M. E., Smirne, N., Baker, M., Josephs, K. A., Parisi, J. E., Seeley, W. W., Miller, B. L., Karydas, A. M., Rosen, H., Dopper, E. G. P., Seelaar, H., Logroscino, G., Capozzo, R., Novelli, V., Puca, A. A., Franceschi, M., Postiglione, A., Milan, G., Sorrentino, P., Kristiansen, M., Chiang, H. -H., Graff, C., Pasquier, F., Rollin, A., Deramecourt, V., Lebouvier, T., Kapogiannis, D., Ferrucci, L., Pickering-Brown, S., Singleton, A. B., Hardy, J., Momeni, P., Boeve, B. F., Petersen, R. C., Ferman, T. J., van Gerpen, J. A., Reinders, M. J. T., Uitti, R. J., Tarraga, L., Maier, W., Dols-Icardo, O., Kawalia, A., Dalmasso, M. C., Boada, M., Zettl, U. K., van Schoor, N. M., Beekman, M., Allen, M., Masliah, E., de Munain, A. L., Pantelyat, A., Wszolek, Z. K., Ross, O. A., Dickson, D. W., Graff-Radford, N. R., Knopman, D., Rademakers, R., Lemstra, A. W., Pijnenburg, Y. A. L., Scheltens, P., Gasser, T., Chinnery, P. F., Hemmer, B., Huisman, M. A., Troncoso, J., Moreno, F., Nohr, E. A., Sorensen, T. I. A., Heutink, P., Sanchez-Juan, P., Posthuma, D., Coppola, G., Varpetian, A., Foroud, T. M., Levey, A. I., Kukull, W. A., Mendez, M. F., Ringman, J., Chui, H., Cotman, C., Decarli, C., Geschwind, D. H., Clarimon, J., Christensen, K., Ertekin-Taner, N., Scholz, S. W., Ramirez, A., Ruiz, A., Slagboom, E., van der Flier, W. M., Holstege, H.
Publikováno v:
Acta Neuropathologica, 139(5), 959-962. Springer Verlag
The IPDGC (The International Parkinson Disease Genomics Consortium) and EADB (Alzheimer Disease European DNA biobank) are listed correctly as an author to the article, however, they were incorrectly listed more than once.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::94e443ccb6785ad4f6a618b06412c43d
https://research.vumc.nl/en/publications/d26eb6fa-f1be-4970-b034-171276054602
https://research.vumc.nl/en/publications/d26eb6fa-f1be-4970-b034-171276054602
Autor:
van der Lee, Sven J, Conway, Olivia J, Zettergren, Anna, Christensen, Kaare, Ertekin-Taner, Nilüfer, Scholz, Sonja W, Ramirez, Alfredo, Ruiz, Agustín, Slagboom, Eline, van der Flier, Wiesje M, Holstege, Henne, Mead, S., Synofzik, M., Andlauer, Till F M, van Swieten, J. C., Leber, I., Ferrari, R., Hernandez, D. G., Nalls, M. A., Rohrer, J. D., Ramasamy, A., Kwok, J. B. J., Dobson-Stone, C., Schofield, P. R., Diez-Fairen, Monica, Halliday, G. M., Hodges, J. R., Piguet, O., Bartley, L., Thompson, E., Borroni, B., Padovani, A., Cruchaga, C., Cairns, N. J., Benussi, L., Simon-Sanchez, Javier, Binetti, G., Ghidoni, R., Forloni, G., Albani, D., Galimberti, D., Fenoglio, C., Serpente, M., Scarpini, E., Blesa, R., Landqvist Waldö, M., Lleó, Alberto, Nilsson, K., Nilsson, C., Mackenzie, I. R. A., Hsiung, G-Y R, Mann, D. M. A., Grafman, J., Morris, C. M., Attems, J., Griffiths, T. D., McKeith, I. G., Zetterberg, Henrik, Thomas, A. J., Pietrini, P., Huey, E. D., Wassermann, E. M., Baborie, A., Jaros, E., Tierney, M. C., Razquin, C., Ortega-Cubero, S., Alonso, E., Nygaard, Marianne, Perneczky, R., Diehl-Schmid, J., Alexopoulos, P., Kurz, A., Rainero, I., Rubino, E., Pinessi, L., Rogaeva, E., St George-Hyslop, P., Rossi, G., Blauwendraat, Cornelis, Tagliavini, F., Giaccone, G., Rowe, J. B., Schlachetzki, J. C. M., Uphill, J., Collinge, J., Danek, A., Van Deerlin, V. M., Grossman, M., Trojanowski, J. Q., Savage, Jeanne E, van der Zee, J., Van Broeckhoven, C., Cappa, S. F., Hannequin, D., Golfier, V., Vercelletto, M., Brice, A., Nacmias, B., Sorbi, S., Bagnoli, S., Mengel-From, Jonas, Piaceri, I., Nielsen, J. E., Hjermind, L. E., Riemenschneider, M., Mayhaus, M., Ibach, B., Gasparoni, G., Pichler, S., Gu, W., Rossor, M. N., Jansen, Iris, Moreno-Grau, Sonia, Fox, N. C., Warren, J. D., Spillantini, M. G., Morris, H. R., Rizzu, P., Snowden, J. S., Rollinson, S., Richardson, A., Gerhard, A., Bruni, A. C., Wagner, Michael, Maletta, R., Frangipane, F., Cupidi, C., Bernardi, L., Anfossi, M., Gallo, M., Conidi, M. E., Smirne, N., Baker, M., Josephs, K. A., Fortea, Juan, Parisi, J. E., Seeley, W. W., Miller, B. L., Karydas, A. M., Rosen, H., Dopper, E. G. P., Seelaar, H., Logroscino, G., Capozzo, R., Novelli, V., Keogh, Michael J, Puca, A. A., Franceschi, M., Postiglione, A., Milan, G., Sorrentino, P., Kristiansen, M., Chiang, H-H, Graff, C., Pasquier, F., Rollin, A., Blennow, Kaj, Deramecourt, V., Lebouvier, T., Kapogiannis, D., Ferrucci, L., Pickering-Brown, S., Singleton, A. B., Hardy, J., Momeni, P., Coppola, G., Skoog, Ingmar, Varpetian, A., Foroud, T. M., Levey, A. I., Kukull, W. A., Mendez, M. F., Ringman, J., Chui, H., Cotman, C., DeCarli, C., Friese, Manuel A, Geschwind, D. H., Pletnikova, Olga, Zulaica, Miren, Lage, Carmen, Carrasquillo, Minerva M, de Rojas, Itziar, Riedel-Heller, Steffi, Illán-Gala, Ignacio, Wei, Wei, Jeune, Bernard, Orellana, Adelina, Then Bergh, Florian, Wang, Xue, Hulsman, Marc, Beker, Nina, Kleineidam, Luca, Tesi, Niccolo, Morris, Christopher M, Indakoetxea, Begoña, Collij, Lyduine E, Scherer, Martin, Morenas-Rodríguez, Estrella, Ironside, James W, van Berckel, Bart N M, Alcolea, Daniel, Wiendl, Heinz, van den Akker, Erik, Strickland, Samantha L, Pastor, Pau, Rodríguez Rodríguez, Eloy, DESGESCO, EADB, IFGC, IPDGC, RiMod-FTD, Bank, Netherlands Brain, Boeve, Bradley F, Hernández, Isabel, Petersen, Ronald C, Ferman, Tanis J, van Gerpen, Jay A, Reinders, Marcel J T, Uitti, Ryan J, Tárraga, Lluís, Maier, Wolfgang, Dols-Icardo, Oriol, Kawalia, Amit, Dalmasso, Maria Carolina, van Eijk, Kristel R, Boada, Mercè, Zettl, Uwe K, van Schoor, Natasja M, Beekman, Marian, Allen, Mariet, Masliah, Eliezer, de Munain, Adolfo López, Pantelyat, Alexander, Wszolek, Zbigniew K, Ross, Owen A, Stringa, Najada, Dickson, Dennis W, Graff-Radford, Neill R, Knopman, David, Rademakers, Rosa, Lemstra, Afina W, Pijnenburg, Yolande A L, Scheltens, Philip, Gasser, Thomas, Chinnery, Patrick F, Hemmer, Bernhard, Chen, Jason A, Huisman, Martijn A, Troncoso, Juan, Moreno, Fermin, Nohr, Ellen A, Sørensen, Thorkild I A, Heutink, Peter, Sánchez-Juan, Pascual, Posthuma, Danielle, GIFT, Clarimón, Jordi
Publikováno v:
van der Lee, S J, Conway, O J, Jansen, I, Carrasquillo, M M, Kleineidam, L, van den Akker, E, Hernández, I, van Eijk, K R, Stringa, N, Chen, J A, Zettergren, A, Andlauer, T F M, Diez-Fairen, M, Simon-Sanchez, J, Lleó, A, Zetterberg, H, Nygaard, M, Blauwendraat, C, Savage, J E, Mengel-From, J, Moreno-Grau, S, Wagner, M, Fortea, J, Keogh, M J, Blennow, K, Skoog, I, Friese, M A, Pletnikova, O, Zulaica, M, Lage, C, de Rojas, I, Riedel-Heller, S, Illán-Gala, I, Wei, W, Jeune, B, Orellana, A, Then Bergh, F, Wang, X, Hulsman, M, Beker, N, Tesi, N, Morris, C M, Indakoetxea, B, Collij, L E, Scherer, M, Morenas-Rodríguez, E, Ironside, J W, van Berckel, B N M, Nohr, E A, Sørensen, T I A, Christensen, K & DESGESCO (Dementia Genetics Spanish Consortium), EADB (Alzheimer Disease European DNA biobank) 2019, ' A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity ', Acta Neuropathologica, vol. 138, no. 2, pp. 237-250 . https://doi.org/10.1007/s00401-019-02026-8
van der Lee, S J, Conway, O J, Jansen, I, Carrasquillo, M M, Kleineidam, L, van den Akker, E, Hernández, I, van Eijk, K R, Stringa, N, Chen, J A, Zettergren, A, Andlauer, T F M, Diez-Fairen, M, Simon-Sanchez, J, Lleó, A, Zetterberg, H, Nygaard, M, Blauwendraat, C, Savage, J E, Mengel-From, J, Moreno-Grau, S, Wagner, M, Fortea, J, Keogh, M J, Blennow, K, Skoog, I, Friese, M A, Pletnikova, O, Zulaica, M, Lage, C, de Rojas, I, Riedel-Heller, S, Illán-Gala, I, Wei, W, Jeune, B, Orellana, A, Then Bergh, F, Wang, X, Hulsman, M, Beker, N, Tesi, N, Morris, C M, Indakoetxea, B, Collij, L E, Scherer, M, Morenas-Rodríguez, E, Ironside, J W, van Berckel, B N M, Alcolea, D & Wiendl, H 2019, ' Correction to : A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity ', Acta Neuropathologica . https://doi.org/10.1007/s00401-019-02107-8
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EADB (Alzheimer Disease European DNA biobank), IFGC (International FTD-Genomics Consortium), IPDGC (The International Parkinson Disease Genomics Consortium), RiMod-FTD (Risk and Modifying factors in Fronto-Temporal Dementia), Netherlands Brain Bank (NBB), The GIFT (Genetic Investigation in Frontotemporal Dementia and Alzheimer’s Disease) Study Group & DESGESCO (Dementia Genetics Spanish Consortium) 2020, ' Correction to: A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity ', Acta Neuropathologica, vol. 139, no. 5, pp. 959-962 . https://doi.org/10.1007/s00401-019-02107-8
Acta Neuropathologica
Acta neuropathologica 139(5), 959-962 (2020). doi:10.1007/s00401-019-02107-8
van der Lee, S J, Conway, O J, Jansen, I, Carrasquillo, M M, Kleineidam, L, van den Akker, E, Hernández, I, van Eijk, K R, Stringa, N, Chen, J A, Zettergren, A, Andlauer, T F M, Diez-Fairen, M, Simon-Sanchez, J, Lleó, A, Zetterberg, H, Nygaard, M, Blauwendraat, C, Savage, J E, Mengel-From, J, Moreno-Grau, S, Wagner, M, Fortea, J, Keogh, M J, Blennow, K, Skoog, I, Friese, M A, Pletnikova, O, Zulaica, M, Lage, C, de Rojas, I, Riedel-Heller, S, Illán-Gala, I, Wei, W, Jeune, B, Orellana, A, Then Bergh, F, Wang, X, Hulsman, M, Beker, N, Tesi, N, Morris, C M, Indakoetxea, B, Collij, L E, Scherer, M, Morenas-Rodríguez, E, Ironside, J W, van Berckel, B N M, Alcolea, D & Wiendl, H 2019, ' Correction to : A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity ', Acta Neuropathologica . https://doi.org/10.1007/s00401-019-02107-8
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
EADB (Alzheimer Disease European DNA biobank), IFGC (International FTD-Genomics Consortium), IPDGC (The International Parkinson Disease Genomics Consortium), RiMod-FTD (Risk and Modifying factors in Fronto-Temporal Dementia), Netherlands Brain Bank (NBB), The GIFT (Genetic Investigation in Frontotemporal Dementia and Alzheimer’s Disease) Study Group & DESGESCO (Dementia Genetics Spanish Consortium) 2020, ' Correction to: A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity ', Acta Neuropathologica, vol. 139, no. 5, pp. 959-962 . https://doi.org/10.1007/s00401-019-02107-8
Acta Neuropathologica
Acta neuropathologica 139(5), 959-962 (2020). doi:10.1007/s00401-019-02107-8
The genetic variant rs72824905-G (minor allele) in the PLCG2 gene was previously associated with a reduced Alzheimer's disease risk (AD). The role of PLCG2 in immune system signaling suggests it may also protect against other neurodegenerative diseas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08e232742b5d2878a6e1cd88e83d667a
https://mediatum.ub.tum.de/1547001
https://mediatum.ub.tum.de/1547001
Autor:
Alexander, D.M., Williams, L.M., Gatt, J.M., Dobson-Stone, C., Kuan, S.A., Todd, E.G., Schofield, P.R., Cooper, N.J., Gordon, E.
Publikováno v:
In Biological Psychology 2007 75(3):229-238
Akademický článek
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Autor:
Bonham, L.W., Steele, N.Z.R., Karch, C.M., Broce, I., Geier, E.G., Wen, N.L., Momeni, P., Hardy, J., Miller, Z.A., Gorno-Tempini, M.L., Hess, C.P., Lewis, P., Miller, B.L., Seeley, W.W., Manzoni, C., Desikan, R.S., Baranzini, S.E., Ferrari, R., Yokoyama, J.S., Hernandez, D.G., Nalls, M.A., Rohrer, J.D., Ramasamy, A., Kwok, J.B.J., Dobson-Stone, C., Schofield, P.R., Halliday, G.M., Hodges, J.R., Piguet, O., Bartley, L., Thompson, E., Haan, E., Hernández, Isabel, Ruiz, A., Boada, M., Borroni, B., Padovani, A., Cruchaga, C., Cairns, N.J., Benussi, L., Binetti, G., Ghidoni, R., Forloni, G., Albani, Diego, Galimberti, D., Fenoglio, C., Serpente, M., Scarpini, E., Clarimón, J., Lleó, Alberto, Blesa, R., Landqvist Waldö, M., Nilsson, K., Nilsson, C., Mackenzie, I.R.A., Hsiung, G.Y.R., Mann, D.M.A., Grafman, J., Morris, C.M., Attems, J., Griffiths, T.D., McKeith, I.G., Thomas, A.J., Pietrini, P., Huey, E.D., Wassermann, E.M., Baborie, A., Jaros, E., Tierney, M.C., Pastor, Pau, Razquin, C., Ortega-Cubero, S., Alonso, E., Perneczky, R., Diehl-Schmid, J., Alexopoulos, P., Kurz, A., Rainero, I., Rubino, E., Pinessi, L., Rogaeva, E., St George-Hyslop, P., Rossi, G., Tagliavini, F., Giaccone, G., Rowe, J.B., Schlachetzki, J.C.M., Uphill, J., Collinge, J., Mead, S., Danek, A., Van Deerlin, V.M., Grossman, M., Trojanowski, J.Q., van der Zee, J., Cruts, M., Van Broeckhoven, C., Cappa, S.F., Leber, I., Hannequin, D., Golfier, V., Vercelletto, M., Brice, A., Nacmias, B., Sorbi, Sandro, Bagnoli, S., Piaceri, I., Nielsen, J.E., Hjermind, L.E., Riemenschneider, M., Mayhaus, M., Ibach, B., Gasparoni, G., Pichler, S., Gu, W., Rossor, M.N., Fox, N.C., Warren, J.D., Spillantini, M.G., Morris, H.R., Rizzu, P., Heutink, P., Snowden, J.S., Rollinson, S., Richardson, A., Gerhard, A., Bruni, A.C., Maletta, R., Frangipane, F., Cupidi, C., Bernardi, L., Anfossi, M., Gallo, M., Conidi, M.E., Smirne, N., Rademakers, R., Baker, M., Dickson, Dennis W., Graff-Radford, N.R., Petersen, R.C., Knopman, D., Josephs, K.A., Boeve, B.F., Parisi, J.E., Karydas, A.M., Rosen, H., van Swieten, J.C., Dopper, E.G.P., Seelaar, H., Pijnenburg, Y.A.L., Scheltens, Philip, Logroscino, G., Capozzo, R., Novelli, V., Puca, A.A., Franceschi, M., Postiglione, A., Milan, G., Sorrentino, P., Kristiansen, M., Chiang, H.H., Graff, C., Pasquier, F., Rollin, A., Deramecourt, V., Lebouvier, T., Kapogiannis, D., Ferrucci, L., Pickering-Brown, S., Singleton, A.B., Universitat Autònoma de Barcelona
Publikováno v:
2019, ' Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia ', Scientific Reports, vol. 9, no. 1, 10854 . https://doi.org/10.1038/s41598-019-46415-1
Scientific reports, vol 9, iss 1
Scientific Reports
Nielsen, J E & International FTD-Genomics Consortium (IFGC) 2019, ' Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia ', Scientific Reports, vol. 9, no. 1, 10854 . https://doi.org/10.1038/s41598-019-46415-1
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Scientific reports
Scientific Reports, Vol 9, Iss 1, Pp 1-10 (2019)
Scientific Reports, 9:10854. Nature Publishing Group
Bonham, L W, Steele, N Z R, Karch, C M, Broce, I, Geier, E G, Wen, N L, Momeni, P, Hardy, J, Miller, Z A, Gorno-Tempini, M L, Hess, C P, Lewis, P, Miller, B L, Seeley, W W, Manzoni, C, Desikan, R S, Baranzini, S E, Ferrari, R, Yokoyama, J S & International FTD-Genomics Consortium (IFGC) 2019, ' Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia ', Scientific Reports, vol. 9, no. 1, 10854 . https://doi.org/10.1038/s41598-019-46415-1
Scientific Reports, 9(1):10854. Nature Publishing Group
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Scientific reports, vol 9, iss 1
Scientific Reports
Nielsen, J E & International FTD-Genomics Consortium (IFGC) 2019, ' Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia ', Scientific Reports, vol. 9, no. 1, 10854 . https://doi.org/10.1038/s41598-019-46415-1
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Scientific reports
Scientific Reports, Vol 9, Iss 1, Pp 1-10 (2019)
Scientific Reports, 9:10854. Nature Publishing Group
Bonham, L W, Steele, N Z R, Karch, C M, Broce, I, Geier, E G, Wen, N L, Momeni, P, Hardy, J, Miller, Z A, Gorno-Tempini, M L, Hess, C P, Lewis, P, Miller, B L, Seeley, W W, Manzoni, C, Desikan, R S, Baranzini, S E, Ferrari, R, Yokoyama, J S & International FTD-Genomics Consortium (IFGC) 2019, ' Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia ', Scientific Reports, vol. 9, no. 1, 10854 . https://doi.org/10.1038/s41598-019-46415-1
Scientific Reports, 9(1):10854. Nature Publishing Group
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
The semantic variant of primary progressive aphasia (svPPA) is a clinical syndrome characterized by neurodegeneration and progressive loss of semantic knowledge. Unlike many other forms of frontotemporal lobar degeneration (FTLD), svPPA has a highly
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d73e6addd6fdc28f79e3172dedb4e270
https://kclpure.kcl.ac.uk/ws/files/123174307/s41598_019_46415_1.pdf
https://kclpure.kcl.ac.uk/ws/files/123174307/s41598_019_46415_1.pdf