المؤلفون: 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

المساهمون: 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., Chio A., Crawford T.O., Smith B.N., Traynor B.J., Fallini C., Gkazi A.S., Scotter E.L., Kenna K.P., Keagle P., Tiloca C., Vance 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-Perez 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., Soraru G., Williams K.L., Nicholson G.A., Leblond-Manry C., Rouleau G.A., Hardiman O., Veldink J.H., Van Den Berg L.H., Pall H., Turner M.R., Talbot K., Taroni F., Garcia-Redondo A., Wu Z., Glass J.D., Ratti A., 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., Ahmed S., Arepalli S., Baloh R.H., Bowser R., Brady C.B., Brice A., Broach J., Campbell R.H., Camu W., 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., Gibson S.B., 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., 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., Rivera A., Robberecht W., Rogaeva E., Rollinson S., Rothstein J.D., Scholz S.W., Sendtner M., Sidle K.C., Simmons Z., Singleton A.B., Smith N., Stone D.J., Troncoso J.C., Valori M., Van Damme P., Van Deerlin V.M., Van Den Bosch L., Zinman L., Angelocola S.M., Ausiello F.P., Barberis M., Bartolomei I., Battistini S., Bersano E., Bisogni G., Borghero G., Brunetti M., Cabona C., Canale F., Canosa A., Cantisani T.A., Capasso M., Caponnetto C., Cardinali P., Carrera P., Casale F., 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., 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., 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., 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., Chio, A., Crawford, T. O., Smith, B. N., Traynor, B. J., Fallini, C., Gkazi, A. S., Scotter, E. L., Kenna, K. P., Keagle, P., Tiloca, C., Vance, 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-Perez, 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., Soraru, G., Williams, K. L., Nicholson, G. A., Leblond-Manry, C., Rouleau, G. A., Hardiman, O., Veldink, J. H., Van Den Berg, L. H., Pall, H., Turner, M. R., Talbot, K., Taroni, F., Garcia-Redondo, A., Wu, Z., Glass, J. D., Ratti, A., 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., Ahmed, S., Arepalli, S., Baloh, R. H., Bowser, R., Brady, C. B., Brice, A., Broach, J., Campbell, R. H., Camu, W., 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., Gibson, S. B., 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., 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., Rivera, A., Robberecht, W., Rogaeva, E., Rollinson, S., Rothstein, J. D., Scholz, S. W., Sendtner, M., Sidle, K. C., Simmons, Z., Singleton, A. B., Smith, N., Stone, D. J., Troncoso, J. C., Valori, M., Van Damme, P., Van Deerlin, V. M., Van Den Bosch, L., Zinman, L., Angelocola, S. M., Ausiello, F. P., Barberis, M., Bartolomei, I., Battistini, S., Bersano, E., Bisogni, G., Borghero, G., Brunetti, M., Cabona, C., Canale, F., Canosa, A., Cantisani, T. A., Capasso, M., Caponnetto, C., Cardinali, P., Carrera, P., Casale, F., 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., 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., 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., Başak, Ayşe Nazlı (ORCID 0000-0001-9257-3540 & YÖK ID 1512), Palvadeau, Robin, Johnson, Janel O., Chia, Ruth, Miller, Danny E., Li, Rachel, Kumaran, Ravindran, Abramzon, Yevgeniya, Alahmady, Nada, Renton, Alan E., Topp, Simon D., Gibbs, J. Raphael, Cookson, Mark R., Sabir, Marya S., Dalgard, Clifton L., Troakes, Claire, Jones, Ashley R., Shatunov, Aleksey, Lacoangeli, Alfredo, Al Khleifat, Ahmad, Ticozzi, Nicola, Silani, Vincenzo, Gellera, Cinzia, Blair, Ian P., Dobson-Stone, Carol, Kwok, John B., Bonkowski, Emily S., Tienari, Pentti J., Morrison, Karen E., Shaw, Pamela J., Al-Chalabi, Ammar, Jr, Robert H. Brown, Calvo, Andrea, Mora, Gabriele, Al-Saif, Hind, Gotkine, Marc, Leigh, Fawn, Chang, Irene J., Perlman, Seth J., Glass, Ian, Scott, Anna, I., Landers, John E., Chio, Adriano, Crawford, Thomas O., Smith, Bradley N., Traynor, Bryan J., Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM), School of Medicine, Johnson, J, Chia, R, Miller, D, Li, R, Kumaran, R, Abramzon, Y, Alahmady, N, Renton, A, Topp, S, Gibbs, J, Cookson, M, Sabir, M, Dalgard, C, Troakes, C, Jones, A, Shatunov, A, Iacoangeli, A, Al Khleifat, A, Ticozzi, N, Silani, V, Gellera, C, Blair, I, Dobson-Stone, C, Kwok, J, Bonkowski, E, Palvadeau, R, Tienari, P, Morrison, K, Shaw, P, Al-Chalabi, A, Brown, R, Calvo, A, Mora, G, Al-Saif, H, Gotkine, M, Leigh, F, Chang, I, Perlman, S, Glass, I, Scott, A, Shaw, C, Basak, A, Landers, J, Chiò, A, Crawford, T, Smith, B, Traynor, B, Fallini, C, Gkazi, A, Scotter, E, Kenna, K, Keagle, P, Tiloca, C, Vance, C, Colombrita, C, King, A, Pensato, V, Castellotti, B, Baas, F, Ten Asbroek, A, McKenna-Yasek, D, Mclaughlin, R, Polak, M, Asress, S, Esteban-Pérez, J, Stevic, Z, D'Alfonso, S, Mazzini, L, Comi, G, 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, Nicholson, G, Leblond-Manry, C, Rouleau, G, Hardiman, O, Veldink, J, van den Berg, L, Pall, H, Turner, M, Talbot, K, Taroni, F, García-Redondo, A, Wu, Z, Glass, J, Ratti, A, Adeleye, A, Soltis, A, Alba, C, Viollet, C, Bacikova, D, Hupalo, D, Sukumar, G, Pollard, H, Wilkerson, M, Martinez, E, Ahmed, S, Arepalli, S, Baloh, R, Bowser, R, Brady, C, Brice, A, Broach, J, Campbell, R, Camu, W, Cooper-Knock, J, Ding, J, Drepper, C, Drory, V, Dunckley, T, Eicher, J, England, B, Faghri, F, Feldman, E, Floeter, M, Fratta, P, Geiger, J, Gerhard, G, Gibson, S, Hardy, J, Harms, M, Heiman-Patterson, T, Hernandez, D, Jansson, L, Kirby, J, Kowall, N, Laaksovirta, H, Landeck, N, Landi, F, Le Ber, I, Lumbroso, S, Macgowan, D, Maragakis, N, Mouzat, K, Murphy, N, Myllykangas, L, Nalls, M, Orrell, R, Ostrow, L, Pamphlett, R, Pickering-Brown, S, Pioro, E, Pletnikova, O, Pliner, H, Pulst, S, Ravits, J, Rivera, A, Robberecht, W, Rogaeva, E, Rollinson, S, Rothstein, J, Scholz, S, Sendtner, M, Sidle, K, Simmons, Z, Singleton, A, Smith, N, Stone, D, Troncoso, J, Valori, M, Van Damme, P, Van Deerlin, V, Van Den Bosch, L, Zinman, L, Angelocola, S, Ausiello, F, Barberis, M, Bartolomei, I, Battistini, S, Bersano, E, Bisogni, G, Borghero, G, Brunetti, M, Cabona, C, Canale, F, Canosa, A, Cantisani, T, Capasso, M, Caponnetto, C, Cardinali, P, Carrera, P, Casale, F, Colletti, T, Conforti, F, Conte, A, Conti, E, Corbo, M, Cuccu, S, Dalla Bella, E, D'Errico, E, Demarco, G, Dubbioso, R, Ferrarese, C, Ferraro, P, 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, F, Lunetta, C, Mandich, P, Mandrioli, J, Manera, U, Manganelli, F, Marangi, G, Marinou, K, Marrosu, M, Martinelli, I, Messina, S, Moglia, C, Mosca, L, Murru, M, 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, HUS Neurocenter, Department of Neurosciences, Clinicum, Neurologian yksikkö, TRIMM - Translational Immunology Research Program, Pentti Tienari / Principal Investigator, Human Genetics, ARD - Amsterdam Reproduction and Development, ANS - Complex Trait Genetics, Johnson, Janel O, Miller, Danny E, Renton, Alan E, Topp, Simon D, Gibbs, J Raphael, Cookson, Mark R, Sabir, Marya S, Dalgard, Clifton L, Jones, Ashley R, Iacoangeli, Alfredo, Blair, Ian P, Kwok, John B, Bonkowski, Emily S, Tienari, Pentti J, Morrison, Karen E, Shaw, Pamela J, Brown, Robert H, Chang, Irene J, Perlman, Seth J, Scott, Anna I, Shaw, Christopher E, Basak, A Nazli, Landers, John E, Chiò, Adriano, Crawford, Thomas O, Smith, Bradley N, Traynor, Bryan J, Fallini, Claudia, Gkazi, Athina Soragia, Scotter, Emma L, Kenna, Kevin P, Keagle, Pamela, Tiloca, Cinzia, Vance, Caroline, Colombrita, Claudia, King, Andrew, Pensato, Viviana, Castellotti, Barbara, Baas, Frank, Ten Asbroek, Anneloor L M A, McKenna-Yasek, Diane, Mclaughlin, Russell L, Polak, Meraida, Asress, Seneshaw, Esteban-Pérez, Jesú, Stevic, Zorica, D'Alfonso, Sandra, Mazzini, Letizia, Comi, Giacomo P, Del Bo, Roberto, Ceroni, Mauro, Gagliardi, Stella, Querin, Giorgia, Bertolin, Cinzia, van Rheenen, Wouter, Rademakers, Rosa, van Blitterswijk, Marka, Lauria, Giuseppe, Duga, Stefano, Corti, Stefania, Cereda, Cristina, Corrado, Lucia, Sorarù, Gianni, Williams, Kelly L, Nicholson, Garth A, Leblond-Manry, Claire, Rouleau, Guy A, Hardiman, Orla, Veldink, Jan H, van den Berg, Leonard H, Pall, Hardev, Turner, Martin R, Talbot, Kevin, Taroni, Franco, García-Redondo, Alberto, Wu, Zheyang, Glass, Jonathan D, Ratti, Antonia, Adeleye, Adelani, Soltis, Anthony R, Alba, Camille, Viollet, Coralie, Bacikova, Dagmar, Hupalo, Daniel N, Sukumar, Gauthaman, Pollard, Harvey B, Wilkerson, Matthew D, Martinez, Elisa McGrath, Ahmed, Sarah, Arepalli, Sampath, Baloh, Robert H, Bowser, Robert, Brady, Christopher B, Brice, Alexi, Broach, Jame, Campbell, Roy H, Camu, William, Cooper-Knock, John, Ding, Jinhui, Drepper, Carsten, Drory, Vivian E, Dunckley, Travis L, Eicher, John D, England, Bryce K, Faghri, Faraz, Feldman, Eva, Floeter, Mary Kay, Fratta, Pietro, Geiger, Joshua T, Gerhard, Glenn, Gibson, Summer B, Hardy, John, Harms, Matthew B, Heiman-Patterson, Terry D, Hernandez, Dena G, Jansson, Lilja, Kirby, Janine, Kowall, Neil W, Laaksovirta, Hannu, Landeck, Natalie, Landi, Francesco, Le Ber, Isabelle, Lumbroso, Serge, Macgowan, Daniel J L, Maragakis, Nicholas J, Mouzat, Kevin, Murphy, Natalie A, Myllykangas, Liisa, Nalls, Mike A, Orrell, Richard W, Ostrow, Lyle W, Pamphlett, Roger, Pickering-Brown, Stuart, Pioro, Erik P, Pletnikova, Olga, Pliner, Hannah A, Pulst, Stefan M, Ravits, John M, Rivera, Alberto, Robberecht, Wim, Rogaeva, Ekaterina, Rollinson, Sara, Rothstein, Jeffrey D, Scholz, Sonja W, Sendtner, Michael, Sidle, Katie C, Simmons, Zachary, Singleton, Andrew B, Smith, Nathan, Stone, David J, Troncoso, Juan C, Valori, Miko, Van Damme, Philip, Van Deerlin, Vivianna M, Van Den Bosch, Ludo, Zinman, Lorne, Angelocola, Stefania M, Ausiello, Francesco P, Barberis, Marco, Bartolomei, Ilaria, Battistini, Stefania, Bersano, Enrica, Bisogni, Giulia, Borghero, Giuseppe, Brunetti, Maura, Cabona, Corrado, Canale, Fabrizio, Canosa, Antonio, Cantisani, Teresa A, Capasso, Margherita, Caponnetto, Claudia, Cardinali, Patrizio, Carrera, Paola, Casale, Federico, Colletti, Tiziana, Conforti, Francesca L, Conte, Amelia, Conti, Elisa, Corbo, Massimo, Cuccu, Stefania, Dalla Bella, Eleonora, D'Errico, Eustachio, Demarco, Giovanni, Dubbioso, Raffaele, Ferrarese, Carlo, Ferraro, Pilar M, Filippi, Massimo, Fini, Nicola, Floris, Gianluca, Fuda, Giuseppe, Gallone, Salvatore, Gianferrari, Giulia, Giannini, Fabio, Grassano, Maurizio, Greco, Lucia, Iazzolino, Barbara, Introna, Alessandro, La Bella, Vincenzo, Lattante, Serena, Liguori, Rocco, Logroscino, Giancarlo, Logullo, Francesco O, Lunetta, Christian, Mandich, Paola, Mandrioli, Jessica, Manera, Umberto, Manganelli, Fiore, Marangi, Giuseppe, Marinou, Kalliopi, Marrosu, Maria Giovanna, Martinelli, Ilaria, Messina, Sonia, Moglia, Cristina, Mosca, Lorena, Murru, Maria R, Origone, Paola, Passaniti, Carla, Petrelli, Cristina, Petrucci, Antonio, Pozzi, Susanna, Pugliatti, Maura, Quattrini, Angelo, Ricci, Claudia, Riolo, Giulia, Riva, Nilo, Russo, Massimo, Sabatelli, Mario, Salamone, Paolina, Salivetto, Marco, Salvi, Fabrizio, Santarelli, Marialuisa, Sbaiz, Luca, Sideri, Riccardo, Simone, Isabella, Simonini, Cecilia, Spataro, Rossella, Tanel, Raffaella, Tedeschi, Gioacchino, Ticca, Anna, Torriello, Antonella, Tranquilli, Stefania, Tremolizzo, Lucio, Trojsi, Francesca, Vasta, Rosario, Vacchiano, Veria, Vita, Giuseppe, Volanti, Paolo, Zollino, Marcella, Zucchi, Elisabetta

المصدر: 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

مصطلحات موضوعية: Hereditary sensory neuropathy, L-serine, Mutations, Deoxysphingolipids, Accumulation, Enzyme complex, Juvenile amyotrophic lateral sclerosis, Serine C-Palmitoyltransferase, Whole Exome Sequencing, 0302 clinical medicine, Medicine, Family history, Amyotrophic lateral sclerosis, Child, Index case, Exome sequencing, Original Investigation, 0303 health sciences, Neurosciences and neurology, 3. Good health, Child, Preschool, Failure to thrive, Female, medicine.symptom, Life Sciences & Biomedicine, L-SERINE, Comments, Human, Adult, medicine.medical_specialty, Adolescent, Amyotrophic Lateral Sclerosis, Genetic Predisposition to Disease, Humans, Mutation, Young Adult, Clinical Neurology, NO, 03 medical and health sciences, DEOXYSPHINGOLIPIDS, Internal medicine, Exome Sequencing, Online First, Juvenile, Preschool, 030304 developmental biology, ACCUMULATION, Science & Technology, SPTLC1, business.industry, MUTATIONS, Research, 3112 Neurosciences, medicine.disease, HEREDITARY SENSORY NEUROPATHY, juvenile, 3111 Biomedicine, Neurology (clinical), Neurosciences & Neurology, ALS, genetic, business, 030217 neurology & neurosurgery, Amyotrophic Lateral Sclerosi

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https://hdl.handle.net/11585/852152

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المؤلفون: Opie-Martin S; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, SE5 9NU, UK., Iacoangeli A; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, SE5 9NU, UK.; Department of Biostatistics and Health Informatics, Institute of Psychiatry Psychology & Neuroscience, King's College London, SE5 8AF, London, UK.; NIHR Biomedical Research Centre at South London and Maudsley NHS Foundation Trust and King's College London, London, UK., Topp SD; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, SE5 9NU, UK., Abel O; Homerton University Hospital, Homerton Row, London, E9 6SR, UK., Mayl K; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, SE5 9NU, UK., Mehta PR; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, SE5 9NU, UK., Shatunov A; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, SE5 9NU, UK.; Department of Molecular and Clinical Pharmacology, University of Liverpool, Blue Block 1.09, Sherrington Building, Crown St, Liverpool, L693BX, UK.; Institute of Medicine, North-Eastern Federal University, 58 Belinsky str, Yakutsk, 677000, Russia., Fogh I; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, SE5 9NU, UK., Bowles H; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, SE5 9NU, UK., Limbachiya N; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, SE5 9NU, UK., Spargo TP; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, SE5 9NU, UK., Al-Khleifat A; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, SE5 9NU, UK., Williams KL; Macquarie University Centre for MND Research, Macquarie Medical School, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW, Australia., Jockel-Balsarotti J; Department of Neurology, Washington University School of Medicine, St Louis, MO, 63110, USA., Bali T; Department of Neurology, Washington University School of Medicine, St Louis, MO, 63110, USA., Self W; Department of Neurology, Washington University School of Medicine, St Louis, MO, 63110, USA., Henden L; Macquarie University Centre for MND Research, Macquarie Medical School, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW, Australia., Nicholson GA; Macquarie University Centre for MND Research, Macquarie Medical School, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW, Australia.; Concord Clinical School, ANZAC Research Institute, Concord Repatriation Hospital, Sydney, NSW, 2139, Australia., Ticozzi N; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, 20095, Cusano Milanino, MiIan, Italy.; Dino Ferrari Center, Department of Pathophysiology and Transplantation, Center for Neurotechnology and Brain Therapeutics, Università degli Studi di Milano, Milan, Italy., McKenna-Yasek D; Department of Neurology, University of Massachusetts Medical School, Worcester, MA, 02125, USA., Tang L; Department of Neurology, Peking University Third Hospital, 49 North Garden Road, Haidian District, Beijing, 100191, PR China., Shaw PJ; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, S10 2HQ, UK., Chio A; Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.; Neurology 1, AOU Città della Salute e della Scienza of Torino, Turin, 10124, Torino, Italy., Ludolph A; Department of Neurology, Ulm University, Oberer Eselsberg 45, 89081, Ulm, Germany.; German Center for Neurodegenerative Diseases, DZNE, Ulm, Germany., Weishaupt JH; Department of Neurology, University of Ulm, Oberer Eselsberg 45, 89081, Ulm, Germany.; Division of Neurodegenerative Disorders, Department of Neurology, Mannheim Center for Translational Neuroscience, Medical Faculty Mannheim, Heidelberg University, Heidelberg, Germany., Landers JE; Department of Neurology, University of Massachusetts Medical School, Worcester, MA, 02125, USA., Glass JD; Department Neurology, Emory University School of Medicine, Atlanta, GA, 30322, USA., Mora JS; ALS Unit, Department of Neurology, Hospital San Rafael, 28016, Madrid, Spain., Robberecht W; Neurology Department, Univeristy Hospitals Leuven, Herestraat 49, 3000, Leuven, Belgium., Damme PV; Neurology Department, Univeristy Hospitals Leuven, Herestraat 49, 3000, Leuven, Belgium.; Neuroscience Department, KU Leuven and Center for Brain & Disease Research VIB Leuven, Leuven, Belgium., McLaughlin R; Complex Trait Genomics Laboratory, Smurfit Institute of Genetics, Trinity College Dublin, Dublin, D02 PN40, Ireland., Hardiman O; Academic Unit of Neurology, Trinity Biomedical Sciences Institute, Trinity College Dublin, Dublin, D02 PN40, Ireland., van den Berg L; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Heidelberglaan 100, Utrecht, 3584 CX, The Netherlands., Veldink JH; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Heidelberglaan 100, Utrecht, 3584 CX, The Netherlands., Corcia P; Centre de Référence pour la SLA et les Autres Maladies du Motoneurone (FILSLAN), 2 Avenue Martin Luther King, 87042, Limoges Cedex, France.; Centre de Compétences Neuropathies Amyloïdes Familiales et Autres Neuropathies Périphériques Rares (NNERF), Poitiers, France., Stevic Z; Neurology Clinic, Clinical Center of Serbia, School of Medicine, University of Belgrade, Studentski trg 1, Belgrade, Serbia., Siddique N; Neuromuscular Disorders Program, Northwestern University, Feinberg School of Medicine, Chicago, IL, 60208, USA., Silani V; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, 20095, Cusano Milanino, MiIan, Italy.; Dino Ferrari Center, Department of Pathophysiology and Transplantation, Center for Neurotechnology and Brain Therapeutics, Università degli Studi di Milano, Milan, Italy., Blair IP; Macquarie University Centre for MND Research, Macquarie Medical School, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW, Australia., Fan DS; Department of Neurology, Peking University Third Hospital, 49 North Garden Road, Haidian District, Beijing, 100191, PR China., Esselin F; Reference Center for ALS and Other Rare Motoneuron Disorders, University Hospital Gui de Chauliac, 34295, Montpellier, France., de la Cruz E; Reference Center for ALS and Other Rare Motoneuron Disorders, University Hospital Gui de Chauliac, 34295, Montpellier, France., Camu W; Reference Center for ALS and Other Rare Motoneuron Disorders, University Hospital Gui de Chauliac, 34295, Montpellier, France., Basak NA; Koç University, School of Medicine Translational Medicine Research Center KUTTAM-NDAL, 34450, Sarıyer, Istanbul, Turkey., Siddique T; Neuromuscular Disorders Program, Northwestern University, Feinberg School of Medicine, Chicago, IL, 60208, USA., Miller T; Department of Neurology, Washington University School of Medicine, St Louis, MO, 63110, USA., Brown RH; Department of Neurology, University of Massachusetts Medical School, Worcester, MA, 02125, USA., Al-Chalabi A; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, SE5 9NU, UK., Shaw CE; UK Dementia Research Institute Centre at King's College London, School of Neuroscience, King's College London, Strand, London, WC2R 2LS, UK. chris.shaw@kcl.ac.uk.; Centre for Brain Research, University of Auckland, 85 Park Road, Grafton, Auckland, 1023, New Zealand. chris.shaw@kcl.ac.uk.

المصدر: Nature communications [Nat Commun] 2024 Jul 02; Vol. 15 (1), pp. 5560. Date of Electronic Publication: 2024 Jul 02.

نوع المنشور: Published Erratum

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: PubMed not MEDLINE; MEDLINE

المؤلفون: Spargo TP; Maurice Wohl Clinical Neuroscience Institute, King's College London, Department of Basic and Clinical Neuroscience, London, UK.; NIHR Maudsley Biomedical Research Centre (BRC) at South London and Maudsley NHS Foundation Trust and King's College London, London, UK., Opie-Martin S; Maurice Wohl Clinical Neuroscience Institute, King's College London, Department of Basic and Clinical Neuroscience, London, UK., Hunt GP; Department of Biostatistics and Health Informatics, King's College London, London, UK.; Perron Institute for Neurological and Translational Science, Nedlands, WA, 6009, Australia.; Centre for Molecular Medicine and Innovative Therapeutics, Murdoch University, Murdoch, WA, 6150, Australia., Kalia M; Maurice Wohl Clinical Neuroscience Institute, King's College London, Department of Basic and Clinical Neuroscience, London, UK.; NIHR Maudsley Biomedical Research Centre (BRC) at South London and Maudsley NHS Foundation Trust and King's College London, London, UK., Al Khleifat A; Maurice Wohl Clinical Neuroscience Institute, King's College London, Department of Basic and Clinical Neuroscience, London, UK., Topp SD; Maurice Wohl Clinical Neuroscience Institute, King's College London, Department of Basic and Clinical Neuroscience, London, UK., Shaw CE; Maurice Wohl Clinical Neuroscience Institute, King's College London, Department of Basic and Clinical Neuroscience, London, UK.; UK Dementia Research Institute Centre at King's College London, School of Neuroscience, King's College London, Strand, London, WC2R 2LS, UK.; Centre for Brain Research, University of Auckland, 85 Park Road, Grafton, Auckland, 1023, New Zealand, and., Al-Chalabi A; Maurice Wohl Clinical Neuroscience Institute, King's College London, Department of Basic and Clinical Neuroscience, London, UK.; King's College Hospital, Bessemer Road, London, SE5 9RS, UK., Iacoangeli A; Maurice Wohl Clinical Neuroscience Institute, King's College London, Department of Basic and Clinical Neuroscience, London, UK.; NIHR Maudsley Biomedical Research Centre (BRC) at South London and Maudsley NHS Foundation Trust and King's College London, London, UK.; Department of Biostatistics and Health Informatics, King's College London, London, UK.

مؤلفون مشاركون: Project Mine ALS Sequencing Consortium

المصدر: Amyotrophic lateral sclerosis & frontotemporal degeneration [Amyotroph Lateral Scler Frontotemporal Degener] 2023 Aug 03, pp. 1-10. Date of Electronic Publication: 2023 Aug 03.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Taylor & Francis Country of Publication: England NLM ID: 101587185 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2167-9223 (Electronic) Linking ISSN: 21678421 NLM ISO Abbreviation: Amyotroph Lateral Scler Frontotemporal Degener Subsets: MEDLINE

المؤلفون: Opie-Martin S; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, SE5 9NU, UK., Iacoangeli A; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, SE5 9NU, UK.; Department of Biostatistics and Health Informatics, Institute of Psychiatry Psychology & Neuroscience, King's College London, SE5 8AF, London, UK.; NIHR Biomedical Research Centre at South London and Maudsley NHS Foundation Trust and King's College London, London, UK., Topp SD; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, SE5 9NU, UK., Abel O; Homerton University Hospital, Homerton Row, London, E9 6SR, UK., Mayl K; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, SE5 9NU, UK., Mehta PR; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, SE5 9NU, UK., Shatunov A; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, SE5 9NU, UK.; Department of Molecular and Clinical Pharmacology, University of Liverpool, Blue Block 1.09, Sherrington Building, Crown St, Liverpool, L693BX, UK.; Institute of Medicine, North-Eastern Federal University, 58 Belinsky str, Yakutsk, 677000, Russia., Fogh I; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, SE5 9NU, UK., Bowles H; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, SE5 9NU, UK., Limbachiya N; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, SE5 9NU, UK., Spargo TP; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, SE5 9NU, UK., Al-Khleifat A; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, SE5 9NU, UK., Williams KL; Macquarie University Centre for MND Research, Macquarie Medical School, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW, Australia., Jockel-Balsarotti J; Department of Neurology, Washington University School of Medicine, St Louis, MO, 63110, USA., Bali T; Department of Neurology, Washington University School of Medicine, St Louis, MO, 63110, USA., Self W; Department of Neurology, Washington University School of Medicine, St Louis, MO, 63110, USA., Henden L; Macquarie University Centre for MND Research, Macquarie Medical School, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW, Australia., Nicholson GA; Macquarie University Centre for MND Research, Macquarie Medical School, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW, Australia.; Concord Clinical School, ANZAC Research Institute, Concord Repatriation Hospital, Sydney, NSW, 2139, Australia., Ticozzi N; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, 20095, Cusano Milanino, MiIan, Italy.; Dino Ferrari Center, Department of Pathophysiology and Transplantation, Center for Neurotechnology and Brain Therapeutics, Università degli Studi di Milano, Milan, Italy., McKenna-Yasek D; Department of Neurology, University of Massachusetts Medical School, Worcester, MA, 02125, USA., Tang L; Department of Neurology, Peking University Third Hospital, 49 North Garden Road, Haidian District, Beijing, 100191, PR China., Shaw PJ; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, S10 2HQ, UK., Chio A; Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.; Neurology 1, AOU Città della Salute e della Scienza of Torino, Turin, 10124, Torino, Italy., Ludolph A; Department of Neurology, Ulm University, Oberer Eselsberg 45, 89081, Ulm, Germany.; German Center for Neurodegenerative Diseases, DZNE, Ulm, Germany., Weishaupt JH; Department of Neurology, University of Ulm, Oberer Eselsberg 45, 89081, Ulm, Germany.; Division of Neurodegenerative Disorders, Department of Neurology, Mannheim Center for Translational Neuroscience, Medical Faculty Mannheim, Heidelberg University, Heidelberg, Germany., Landers JE; Department of Neurology, University of Massachusetts Medical School, Worcester, MA, 02125, USA., Glass JD; Department Neurology, Emory University School of Medicine, Atlanta, GA, 30322, USA., Mora JS; ALS Unit, Department of Neurology, Hospital San Rafael, 28016, Madrid, Spain., Robberecht W; Neurology Department, Univeristy Hospitals Leuven, Herestraat 49, 3000, Leuven, Belgium., Damme PV; Neurology Department, Univeristy Hospitals Leuven, Herestraat 49, 3000, Leuven, Belgium.; Neuroscience Department, KU Leuven and Center for Brain & Disease Research VIB Leuven, Leuven, Belgium., McLaughlin R; Complex Trait Genomics Laboratory, Smurfit Institute of Genetics, Trinity College Dublin, Dublin, D02 PN40, Ireland., Hardiman O; Academic Unit of Neurology, Trinity Biomedical Sciences Institute, Trinity College Dublin, Dublin, D02 PN40, Ireland., van den Berg L; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Heidelberglaan 100, Utrecht, 3584 CX, The Netherlands., Veldink JH; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Heidelberglaan 100, Utrecht, 3584 CX, The Netherlands., Corcia P; Centre de Référence pour la SLA et les Autres Maladies du Motoneurone (FILSLAN), 2 Avenue Martin Luther King, 87042, Limoges Cedex, France.; Centre de Compétences Neuropathies Amyloïdes Familiales et Autres Neuropathies Périphériques Rares (NNERF), Poitiers, France., Stevic Z; Neurology Clinic, Clinical Center of Serbia, School of Medicine, University of Belgrade, Studentski trg 1, Belgrade, Serbia., Siddique N; Neuromuscular Disorders Program, Northwestern University, Feinberg School of Medicine, Chicago, IL, 60208, USA., Silani V; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, 20095, Cusano Milanino, MiIan, Italy.; Dino Ferrari Center, Department of Pathophysiology and Transplantation, Center for Neurotechnology and Brain Therapeutics, Università degli Studi di Milano, Milan, Italy., Blair IP; Macquarie University Centre for MND Research, Macquarie Medical School, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW, Australia., Fan DS; Department of Neurology, Peking University Third Hospital, 49 North Garden Road, Haidian District, Beijing, 100191, PR China., Esselin F; Reference Center for ALS and Other Rare Motoneuron Disorders, University Hospital Gui de Chauliac, 34295, Montpellier, France., de la Cruz E; Reference Center for ALS and Other Rare Motoneuron Disorders, University Hospital Gui de Chauliac, 34295, Montpellier, France., Camu W; Reference Center for ALS and Other Rare Motoneuron Disorders, University Hospital Gui de Chauliac, 34295, Montpellier, France., Basak NA; Koç University, School of Medicine Translational Medicine Research Center KUTTAM-NDAL, 34450, Sarıyer, Istanbul, Turkey., Siddique T; Neuromuscular Disorders Program, Northwestern University, Feinberg School of Medicine, Chicago, IL, 60208, USA., Miller T; Department of Neurology, Washington University School of Medicine, St Louis, MO, 63110, USA., Brown RH; Department of Neurology, University of Massachusetts Medical School, Worcester, MA, 02125, USA., Al-Chalabi A; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, SE5 9NU, UK., Shaw CE; UK Dementia Research Institute Centre at King's College London, School of Neuroscience, King's College London, Strand, London, WC2R 2LS, UK. chris.shaw@kcl.ac.uk.; Centre for Brain Research, University of Auckland, 85 Park Road, Grafton, Auckland, 1023, New Zealand. chris.shaw@kcl.ac.uk.

المصدر: Nature communications [Nat Commun] 2022 Nov 12; Vol. 13 (1), pp. 6901. Date of Electronic Publication: 2022 Nov 12.

نوع المنشور: Observational Study; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

مواضيع طبية MeSH: Amyotrophic Lateral Sclerosis*/genetics , Amyotrophic Lateral Sclerosis*/epidemiology, Humans ; Superoxide Dismutase-1/genetics ; Superoxide Dismutase/genetics ; Phenotype ; Mutation

المؤلفون: Iacoangeli A; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience King's College London, 5 Cutcombe Road, London SE5 9RT, UK.; Department of Biostatistics and Health Informatics, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK., Fogh I; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience King's College London, 5 Cutcombe Road, London SE5 9RT, UK., Selvackadunco S; MRC London Neurodegenerative Diseases Brain Bank, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK., Topp SD; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience King's College London, 5 Cutcombe Road, London SE5 9RT, UK., Shatunov A; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience King's College London, 5 Cutcombe Road, London SE5 9RT, UK., van Rheenen W; Department of Neurology, University Medical Center Utrecht Brain Center, Utrecht University, Utrecht, The Netherlands., Al-Khleifat A; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience King's College London, 5 Cutcombe Road, London SE5 9RT, UK., Opie-Martin S; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience King's College London, 5 Cutcombe Road, London SE5 9RT, UK., Ratti A; Department of Neurology-Stroke Unit and Laboratory of Neuroscience, Istituto Auxologico Italiano, IRCCS, Milan, Italy., Calvo A; Department of Neuroscience 'Rita Levi Montalcini', ALS Centre, University of Turin, Torino, Italy.; Neuroscience Institute of Torino (NIT), University of Torino, Torino, Piemonte, Italy., Van Damme P; Department of Neurology, University Hospitals Leuven, Leuven, Belgium.; Department of Neurosciences, Laboratory of Neurobiology, VIB Center for Brain and Disease Research, Leuven, Belgium., Robberecht W; Department of Neurology, University Hospitals Leuven, Leuven, Belgium., Chio A; Department of Neuroscience 'Rita Levi Montalcini', ALS Centre, University of Turin, Torino, Italy.; Neuroscience Institute of Torino (NIT), University of Torino, Torino, Piemonte, Italy., Dobson RJ; Department of Biostatistics and Health Informatics, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK., Hardiman O; Academic Unit of Neurology, Trinity Biomedical Sciences Institute, University of Dublin Trinity College, Dublin, Ireland.; Department of Neurology, Beaumont Hospital, Dublin 9, Ireland., Shaw CE; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience King's College London, 5 Cutcombe Road, London SE5 9RT, UK., van den Berg LH; Department of Neurology, University Medical Center Utrecht Brain Center, Utrecht University, Utrecht, The Netherlands., Andersen PM; Department of Clinical Sciences, Neurosciences, Umeå University, Umeå, Sweden., Smith BN; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience King's College London, 5 Cutcombe Road, London SE5 9RT, UK., Silani V; Department of Neurology-Stroke Unit and Laboratory of Neuroscience, Istituto Auxologico Italiano, IRCCS, Milan, Italy.; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center, Università degli Studi di Milano, Milan, Italy.; Aldo Ravelli Center for Neurotechnology and Experimental Brain Therapeutics, Università degli Studi di Milano, Milan, Italy., Veldink JH; Department of Neurology, University Medical Center Utrecht Brain Center, Utrecht University, Utrecht, The Netherlands., Breen G; Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK., Troakes C; MRC London Neurodegenerative Diseases Brain Bank, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK., Al-Chalabi A; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience King's College London, 5 Cutcombe Road, London SE5 9RT, UK.; Department of Neurology, King's College Hospital, London, UK., Jones AR; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience King's College London, 5 Cutcombe Road, London SE5 9RT, UK.

مؤلفون مشاركون: UK Brain Expression Consortium

المصدر: Brain communications [Brain Commun] 2021 Oct 07; Vol. 3 (4), pp. fcab236. Date of Electronic Publication: 2021 Oct 07 (Print Publication: 2021).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 101755125 Publication Model: eCollection Cited Medium: Internet ISSN: 2632-1297 (Electronic) Linking ISSN: 26321297 NLM ISO Abbreviation: Brain Commun Subsets: PubMed not MEDLINE

المؤلفون: Johnson JO; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland., Chia R; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland., Miller DE; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle.; Department of Pediatrics, Division of Genetic Medicine, Seattle Children's Hospital, University of Washington, Seattle., Li R; Department of Pediatrics, Children's Hospital of Richmond at VCU, Richmond, Virginia., Kumaran R; Cell Biology and Gene Expression Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland., Abramzon Y; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland.; Reta Lila Weston Institute, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Alahmady N; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom.; Department of Biology, Imam Abdulrahman bin Faisal University, Dammam, Saudi Arabia., Renton AE; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland.; Nash Family Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, New York.; Ronald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, New York.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York., Topp SD; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom.; UK Dementia Research Institute at King's College London, London, United Kingdom., Gibbs JR; Computational Biology Group, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland., Cookson MR; Reta Lila Weston Institute, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Sabir MS; Neurodegenerative Diseases Research Unit, Laboratory of Neurogenetics, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland., Dalgard CL; Department of Anatomy, Physiology & Genetics, Uniformed Services University of the Health Sciences, Bethesda, Maryland.; The American Genome Center, Collaborative Health Initiative Research Program, Uniformed Services University of the Health Sciences, Bethesda, Maryland., Troakes C; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom., Jones AR; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom., Shatunov A; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom., Iacoangeli A; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom., Al Khleifat A; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom., Ticozzi N; Istituto Auxologico Italiano, IRCCS, Department of Neurology-Stroke Unit and Laboratory of Neuroscience, Milan, Italy.; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center, Università degli Studi di Milano, Milan, Italy., Silani V; Istituto Auxologico Italiano, IRCCS, Department of Neurology-Stroke Unit and Laboratory of Neuroscience, Milan, Italy.; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center, Università degli Studi di Milano, Milan, Italy., Gellera C; Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico 'Carlo Besta,' Milan, Italy., Blair IP; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, Australia., Dobson-Stone C; The University of Sydney, Brain and Mind Centre and School of Medical Sciences, Faculty of Medicine and Health, Camperdown, Australia.; School of Medical Sciences, University of New South Wales, Kensington, Australia., Kwok JB; The University of Sydney, Brain and Mind Centre and School of Medical Sciences, Faculty of Medicine and Health, Camperdown, Australia.; School of Medical Sciences, University of New South Wales, Kensington, Australia., Bonkowski ES; Department of Pediatrics, Division of Genetic Medicine, Seattle Children's Hospital, University of Washington, Seattle., Palvadeau R; Suna and Inan Kırac Foundation, Neurodegeneration Research Laboratory, KUTTAM, School of Medicine, Koc University, Istanbul, Turkey., Tienari PJ; Department of Neurology, Helsinki University Hospital and Translational Immunology Programme, Biomedicum, University of Helsinki, Helsinki, Finland., Morrison KE; Faculty of Medicine, Health and Life Sciences, Queen's University Belfast, Belfast, United Kingdom., Shaw PJ; Sheffield Institute for Translational Neuroscience, Department of Neuroscience, University of Sheffield, Sheffield, United Kingdom., Al-Chalabi A; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom.; Department of Neurology, King's College Hospital, London, United Kingdom., Brown RH Jr; Department of Neurology, University of Massachusetts Medical School, Worcester., Calvo A; ALS Center, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy., Mora G; ALS Center, ICS Maugeri, IRCCS, Milan, Italy., Al-Saif H; Department of Neurology, Children's Hospital of Richmond at VCU, Richmond, Virginia., Gotkine M; Department of Neurology, The Agnes Ginges Center for Human Neurogenetics, Hadassah Medical Organization and Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel., Leigh F; Department of Neurology, Seattle Children's Hospital, University of Washington, Seattle., Chang IJ; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle., Perlman SJ; Department of Neurology, Seattle Children's Hospital, University of Washington, Seattle., Glass I; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle.; Department of Pediatrics, Division of Genetic Medicine, Seattle Children's Hospital, University of Washington, Seattle., Scott AI; Department of Laboratories, Seattle Children's Hospital, Seattle, Washington.; Department of Laboratory Medicine, University of Washington, Seattle., Shaw CE; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom.; UK Dementia Research Institute at King's College London, London, United Kingdom., Basak AN; Suna and Inan Kırac Foundation, Neurodegeneration Research Laboratory, KUTTAM, School of Medicine, Koc University, Istanbul, Turkey., Landers JE; Department of Neurology, University of Massachusetts Medical School, Worcester., Chiò A; ALS Center, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.; Neurology 1, AOU Città della Salute e della Scienza, Turin, Italy., Crawford TO; Department of Neurology, Johns Hopkins University, Baltimore, Maryland.; Department of Pediatrics, Johns Hopkins University, Baltimore, Maryland., Smith BN; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom., Traynor BJ; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland.; Reta Lila Weston Institute, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; Department of Neurology, Johns Hopkins University, Baltimore, Maryland.; National Institute of Neurological Disorders and Stroke, Bethesda, Maryland., Smith BN; Centre for Neurodegeneration Research, King's College London, Department of Clinical Neuroscience, Institute of Psychiatry, London, United Kingdom., Ticozzi N; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy.; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center, Università degli Studi di Milano, Milan, Italy., Fallini C; Department of Neurology, University of Massachusetts Medical School, Worcester., Gkazi AS; Centre for Neurodegeneration Research, King's College London, Department of Clinical Neuroscience, Institute of Psychiatry, London, United Kingdom., Topp SD; Centre for Neurodegeneration Research, King's College London, Department of Clinical Neuroscience, Institute of Psychiatry, London, United Kingdom.; UK Dementia Research Institute at King's College London, London, United Kingdom., Scotter EL; Centre for Brain Research, University of Auckland, Auckland, New Zealand., Kenna KP; Department of Neurology, University of Massachusetts Medical School, Worcester., Keagle P; Department of Neurology, University of Massachusetts Medical School, Worcester., Tiloca C; Department of Neurology, IRCCS Istituto Auxologico Italiano, Milan, Italy., Vance C; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King's College London, London, United Kingdom., Troakes C; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King's College London, London, United Kingdom., Colombrita C; Department of Neurology, IRCCS Istituto Auxologico Italiano, Milan, Italy., King A; Centre for Neurodegeneration Research, King's College London, Department of Clinical Neuroscience, Institute of Psychiatry, London, United Kingdom., Pensato V; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico 'Carlo Besta,' Milan, Italy., Castellotti B; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico 'Carlo Besta,' Milan, Italy., Baas F; Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., Ten Asbroek ALMA; Department of Neurogenetics and Neurology, Academic Medical Centre, Amsterdam, the Netherlands., McKenna-Yasek D; Department of Neurology, University of Massachusetts Medical School, Worcester., McLaughlin RL; Population Genetics Laboratory, Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Republic of Ireland., Polak M; Department of Neurology, Emory University, Atlanta, Georgia., Asress S; Department of Neurology, Emory University, Atlanta, Georgia., Esteban-Pérez J; Unidad de ELA, Instituto de Investigación Hospital 12 de Octubre de Madrid, SERMAS, and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER U-723), Madrid, Spain., Stevic Z; Neurology Clinic, Clinical Center of Serbia School of Medicine, University of Belgrade, Belgrade, Serbia., D'Alfonso S; Department of Health Sciences, University of Eastern Piedmont, Novara, Italy., Mazzini L; ALS Center, Azienda Ospedaliero Universitaria Maggiore della Carità, Novara, Italy., Comi GP; Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Del Bo R; Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Ceroni M; Department of Brain and Behavior, University of Pavia, Pavia, Italy.; General Neurology Unit, IRCCS Mondino Foundation, Pavia, Italy., Gagliardi S; Genomic and Post-Genomic Center, Mondino Foundation-IRCCS, Pavia, Italy., Querin G; Department of Neurosciences, University of Padova, Padova, Italy., Bertolin C; Department of Neurosciences, University of Padova, Padova, Italy., van Rheenen W; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands., Rademakers R; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida., van Blitterswijk M; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida., Lauria G; 3rd Neurology Unit, Motor Neuron Diseases Center, Fondazione IRCCS Istituto Neurologico 'Carlo Besta,' Milan, Italy., Duga S; Humanitas Clinical and Research Center-IRCCS, Milan, Italy.; Department of Biomedical Sciences, Humanitas University, Milan, Italy., Corti S; Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Cereda C; Genomic and Post-Genomic Center, Mondino Foundation-IRCCS, Pavia, Italy., Corrado L; Department of Health Sciences, University of Eastern Piedmont, Novara, Italy., Sorarù G; Department of Neurosciences, University of Padova, Padova, Italy., Williams KL; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, Australia., Nicholson GA; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, Australia.; Molecular Medicine Laboratory, Clinical Sciences Building, Concord Hospital, Concord, Australia., Blair IP; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, Australia., Leblond-Manry C; Human Genetics and Cognitive Functions Unit, Institut Pasteur, Paris, France., Rouleau GA; Montreal Neurological Institute, Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada., Hardiman O; Academic Unit of Neurology, Trinity Biomedical Sciences Institute, Trinity College Dublin, Dublin, Republic of Ireland., Morrison KE; Faculty of Medicine, Health and Life Sciences, Queen's University Belfast, Belfast, United Kingdom., Veldink JH; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands., van den Berg LH; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands., Al-Chalabi A; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King's College London, London, United Kingdom., Pall H; School of Clinical and Experimental Medicine, University of Birmingham, Birmingham, United Kingdom., Shaw PJ; Sheffield Institute for Translational Neuroscience, Department of Neuroscience, University of Sheffield, Sheffield, United Kingdom., Turner MR; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom., Talbot K; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom., Taroni F; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico 'Carlo Besta,' Milan, Italy., García-Redondo A; Unidad de ELA, Instituto de Investigación Hospital 12 de Octubre de Madrid, SERMAS, and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER U-723), Madrid, Spain., Wu Z; Department of Bioinformatics and Computational Biology, Worcester Polytechnic Institute, Worcester, Massachusetts., Glass JD; 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مؤلفون مشاركون: FALS Sequencing Consortium; American Genome Center; International ALS Genomics Consortium; and ITALSGEN Consortium

المصدر: JAMA neurology [JAMA Neurol] 2021 Oct 01; Vol. 78 (10), pp. 1236-1248.

نوع المنشور: Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: American Medical Association Country of Publication: United States NLM ID: 101589536 Publication Model: Print Cited Medium: Internet ISSN: 2168-6157 (Electronic) Linking ISSN: 21686149 NLM ISO Abbreviation: JAMA Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Amyotrophic Lateral Sclerosis/*genetics , Genetic Predisposition to Disease/*genetics , Serine C-Palmitoyltransferase/*genetics, Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Humans ; Mutation ; Exome Sequencing ; Young Adult

المؤلفون: Gotkine M; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK; Department of Neurology, The Agnes Ginges Center for Human Neurogenetics, Hadassah Medical Organization and Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel., de Majo M; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK., Wong CH; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK., Topp SD; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK; United Kingdom Dementia Research Institute Centre, King's College London, London, UK., Michaelson-Cohen R; Medical Genetics Institute, Department of Obstetrics & Gynecology, Shaare Zedek Medical Center affiliated with the Hebrew University School of Medicine, Jerusalem, Israel., Epsztejn-Litman S; Medical Genetics Institute, Department of Obstetrics & Gynecology, Shaare Zedek Medical Center affiliated with the Hebrew University School of Medicine, Jerusalem, Israel., Eiges R; Medical Genetics Institute, Department of Obstetrics & Gynecology, Shaare Zedek Medical Center affiliated with the Hebrew University School of Medicine, Jerusalem, Israel., Y YL; Department of Neurology, The Agnes Ginges Center for Human Neurogenetics, Hadassah Medical Organization and Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel., Kanaan M; Hereditary Research Laboratory, Bethlehem University, Jerusalem, Israel., Shaked HM; Department of Genetics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel., Alahmady N; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK; Department of Biology, Imam Abdulrahman bin Faisal University, Dammam, Saudi Arabia., Vance C; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK., Newhouse SJ; Department of Biostatistics and Health Informatics, King's College London, London, UK., Breen G; Social, Genetic & Developmental Psychiatry Centre, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK., Nishimura AL; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK., Shaw CE; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK; United Kingdom Dementia Research Institute Centre, King's College London, London, UK., Smith BN; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK; Stem Cell Research Laboratory, Medical Genetics Institute, Shaare Zedek Medical Center affiliated with the Hebrew University School of Medicine, Jerusalem, Israel. Electronic address: bradley.smith@kcl.ac.uk.

المصدر: Neurobiology of aging [Neurobiol Aging] 2021 Oct; Vol. 106, pp. 351.e1-351.e6. Date of Electronic Publication: 2021 Jun 04.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 8100437 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1558-1497 (Electronic) Linking ISSN: 01974580 NLM ISO Abbreviation: Neurobiol Aging Subsets: MEDLINE

مواضيع طبية MeSH: Alleles*, Amyotrophic Lateral Sclerosis/*genetics , Cell Cycle Proteins/*genetics , Genes, Recessive/*genetics , Genetic Association Studies/*methods , Loss of Function Mutation/*genetics , Membrane Transport Proteins/*genetics , Nonsense Mediated mRNA Decay/*genetics, Aged ; Aged, 80 and over ; Consanguinity ; Female ; Gene Expression/genetics ; Heterozygote ; Humans ; Male ; Middle Aged ; Middle East ; RNA, Messenger/genetics ; RNA, Messenger/metabolism ; Risk Factors

المؤلفون: Lambing C; Department of Plant Sciences, University of Cambridge, CB2 3EA Cambridge, United Kingdom., Kuo PC; Department of Plant Sciences, University of Cambridge, CB2 3EA Cambridge, United Kingdom., Tock AJ; Department of Plant Sciences, University of Cambridge, CB2 3EA Cambridge, United Kingdom., Topp SD; Department of Plant Sciences, University of Cambridge, CB2 3EA Cambridge, United Kingdom., Henderson IR; Department of Plant Sciences, University of Cambridge, CB2 3EA Cambridge, United Kingdom irh25@cam.ac.uk.

المصدر: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2020 Jun 16; Vol. 117 (24), pp. 13647-13658. Date of Electronic Publication: 2020 Jun 04.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1091-6490 (Electronic) Linking ISSN: 00278424 NLM ISO Abbreviation: Proc Natl Acad Sci U S A Subsets: MEDLINE

مواضيع طبية MeSH: Crossing Over, Genetic* , Recombination, Genetic*, Arabidopsis/*genetics , Arabidopsis Proteins/*metabolism , DNA-Binding Proteins/*metabolism , Telomere/*genetics, Arabidopsis/metabolism ; Arabidopsis Proteins/genetics ; Cell Cycle Proteins/genetics ; Cell Cycle Proteins/metabolism ; DNA-Binding Proteins/genetics ; Telomere/metabolism

المؤلفون: Tang S; Evelina London Children's Hospital, London, UK.; Institute of Psychiatry, Psychology, and Neuroscience, King's College London, London, UK., Addis L; Institute of Psychiatry, Psychology, and Neuroscience, King's College London, London, UK.; Eli Lilly and Company, Erl Wood, Surrey, UK., Smith A; Institute of Psychiatry, Psychology, and Neuroscience, King's College London, London, UK., Topp SD; Institute of Psychiatry, Psychology, and Neuroscience, King's College London, London, UK., Pendziwiat M; Clinic for Neuropediatrics, Schleswig-Holstein University Clinics, Kiel, Germany., Mei D; Meyer Children's Hospital, University of Florence, Florence, Italy., Parker A; Addenbrooke's Hospital, Cambridge, UK., Agrawal S; Birmingham Children's Hospital National Health Service Foundation Trust, Birmingham, UK., Hughes E; Evelina London Children's Hospital, London, UK.; King's College Hospital, London, UK., Lascelles K; Evelina London Children's Hospital, London, UK., Williams RE; Evelina London Children's Hospital, London, UK., Fallon P; St George's National Health Service Health Care Trust, London, UK., Robinson R; Great Ormond Street Hospital for Children National Health Service Trust, London, UK., Cross HJ; Great Ormond Street Hospital for Children National Health Service Trust, London, UK.; Clinical Neurosciences, UCL - Institute of Child Health, London, UK., Hedderly T; Evelina London Children's Hospital, London, UK., Eltze C; Great Ormond Street Hospital for Children National Health Service Trust, London, UK., Kerr T; St George's National Health Service Health Care Trust, London, UK., Desurkar A; Sheffield Children's National Health Service Foundation Trust, Sheffield, UK., Hussain N; University Hospital of Leicester National Health Service Trust, Leicester, UK., Kinali M; Chelsea and Westminster Hospital National Health Service Foundation Trust, London, UK., Bagnasco I; Child Neurology and Psychiatry Unit, Martini Hospital, Turin, Italy., Vassallo G; Manchester Children's Hospital, Manchester, UK., Whitehouse W; University of Nottingham, Nottingham, UK., Goyal S; Evelina London Children's Hospital, London, UK.; King's College Hospital, London, UK., Absoud M; Evelina London Children's Hospital, London, UK., Møller RS; Danish Epilepsy Center, Dianalund, Denmark., Helbig I; Clinic for Neuropediatrics, Schleswig-Holstein University Clinics, Kiel, Germany.; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Neurology, University of Pennsylvania, Philadelphia, Pennsylvania., Weber YG; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Tübingen, Germany.; Department of Neurosurgery, University of Tübingen, Tübingen, Germany., Marini C; Meyer Children's Hospital, University of Florence, Florence, Italy., Guerrini R; Meyer Children's Hospital, University of Florence, Florence, Italy., Simpson MA; Division of Genetics and Molecular Medicine, King's College London, London, UK., Pal DK; Evelina London Children's Hospital, London, UK.; Institute of Psychiatry, Psychology, and Neuroscience, King's College London, London, UK.; King's College Hospital, London, UK.; Medical Research Council Centre for Neurodevelopmental Disorders, King's College London, London, UK.

مؤلفون مشاركون: EuroEPINOMICS-RES Consortium

المصدر: Epilepsia [Epilepsia] 2020 May; Vol. 61 (5), pp. 995-1007. Date of Electronic Publication: 2020 May 29.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-1167 (Electronic) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia Subsets: MEDLINE

مواضيع طبية MeSH: Epilepsies, Myoclonic/*pathology , Epilepsy, Generalized/*pathology , Seizures/*pathology, Age of Onset ; Attention Deficit Disorder with Hyperactivity/complications ; Attention Deficit Disorder with Hyperactivity/genetics ; Attention Deficit Disorder with Hyperactivity/pathology ; Autism Spectrum Disorder/complications ; Autism Spectrum Disorder/genetics ; Autism Spectrum Disorder/pathology ; Child ; Child, Preschool ; Electroencephalography ; Epilepsies, Myoclonic/complications ; Epilepsies, Myoclonic/genetics ; Epilepsy, Generalized/complications ; Epilepsy, Generalized/genetics ; Female ; Humans ; Infant ; Intellectual Disability/complications ; Intellectual Disability/genetics ; Intellectual Disability/pathology ; Male ; Neuroimaging ; Phenotype ; Seizures/genetics ; Exome Sequencing