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
The Lancet Neurology; Vol 11 Majounie, E, Renton, A E, Mok, K, Dopper, E G P, Waite, A, Rollinson, S, Chio, A, Restagno, G, Nicolaou, N, Simon-Sanchez, J, van Swieten, J C, Abramzon, Y, Johnson, J O, Sendtner, M, Pamphlett, R, Orrell, R W, Mead, S, Sidle, K C, Houlden, H, Rohrer, J D, Morrison, K E, Pall, H, Talbot, K, Ansorge, O, Hernandez, D G, Arepalli, S, Sabatelli, M, Mora, G, Corbo, M, Giannini, F, Calvo, A, Englund, E, Borghero, G, Foris, G L, Remes, A M, Laaksovirta, H, McCluskey, L, Trojanowski, J Q, Van Deerlin, V M, Schellenberg, G D, Nalls, M A, Drory, V E, Lu, C S, Yeh, T H, Ishiura, H, Takahashi, Y, Tsuji, S, Le Ber, I, Brice, A, Drepper, C, Williams, N, Kirby, J, Shaw, P, Hardy, J, Tienari, P J, Heutink, P, Morris, H R, Pickering-Brown, S & Traynor, B J 2012, ' Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study ', Lancet Neurology, vol. 11, no. 4, pp. 323-330 . https://doi.org/10.1016/S1474-4422(12)70043-1 Lancet Neurology, 11(4), 323-330. Lancet Publishing Group Nature Communications Nature Communications, Nature Publishing Group, 2012, 11 (4), pp.323-30. ⟨10.1016/S1474-4422(12)70043-1⟩ Nature Communications, 2012, 11 (4), pp.323-30. ⟨10.1016/S1474-4422(12)70043-1⟩ Lancet Neurology; 11(4), pp 323-330 (2012)
Renton, A E, Majounie, E, Waite, A, Simon-Sanchez, J, Rollinson, S, Gibbs, J R, Schymick, J C, Laaksovirta, H, van Swieten, J C, Myllykangas, L, Kalimo, H, Paetau, A, Abramzon, Y, Remes, A M, Kaganovich, A, Scholz, S W, Duckworth, J, Ding, J H, Harmer, D W, Hernandez, D G, Johnson, J O, Mok, K, Ryten, M, Trabzuni, D, Guerreiro, R J, Orrell, R W, Neal, J, Murray, A, Pearson, J, Jansen, I E, Sondervan, D, Seelaar, H, Blake, D, Young, K, Halliwell, N, Callister, J B, Toulson, G, Richardson, A, Gerhard, A, Snowden, J, Mann, D, Neary, D, Nalls, M A, Peuralinna, T, Jansson, L, Isoviita, V M, Kaivorinne, A L, Holtta-Vuori, M, Ikonen, E, Sulkava, R, Benatar, M, Wuu, J, Chio, A, Restagno, G, Borghero, G, Sabatelli, M, Heckerman, D, Rogaeva, E, Zinman, L, Rothstein, J D, Sendtner, M, Drepper, C, Eichler, E E, Alkan, C, Abdullaev, Z, Pack, S D, Dutra, A, Pak, E, Hardy, J, Singleton, A, Williams, N M, Heutink, P, Pickering-Brown, S, Morris, H R, Tienari, P J & Traynor, B J 2011, ' A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD ', Neuron, vol. 72, no. 2, pp. 257-268 . https://doi.org/10.1016/j.neuron.2011.09.010 Neuron, 72(2), 257-268. Cell Press Neuron; Vol 72 Neuron (Camb. Mass.) (2011). info:cnr-pdr/source/autori:Renton AE, Majounie E, Waite A, Simón-Sánchez J, Rollinson S, Gibbs JR, Schymick JC, Laaksovirta H, van Swieten JC, Myllykangas L, Kalimo H, Paetau A, Abramzon Y, Remes AM, Kaganovich A, Scholz SW, Duckworth J, Ding J, Harmer DW, Hernandez DG, Johnson JO, Mok K, Ryten M, Trabzuni D, Guerreiro RJ, Orrell RW, Neal J, Murray A, Pearson J, Jansen IE, Sondervan D, Seelaar H, Blake D, Young K, Halliwell N, Callister JB, Toulson G, Richardson A, Gerhard A, Snowden J, Mann D, Neary D, Nalls MA, Peuralinna T, Jansson L, Isoviita VM, Kaivorinne AL, Hölttä-Vuori M, Ikonen E, Sulkava R, Benatar M, Wuu J, Chiò A, Restagno G, Borghero G, Sabatelli M, ITALSGEN Consortium, Heckerman D, Rogaeva E, Zinman L, Rothstein JD, Sendtner M, Drepper C, Eichler EE, Alkan C, Abdullaev Z, Pack SD, Dutra A, Pak E, Hardy J, Singleton A, Williams NM, Heutink P, Pickering-Brown S, Morris HR, Tienari PJ, Traynor BJ. (2011)./titolo:A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD./doi:/rivista:Neuron (Camb. Mass.)/anno:2011/pagina_da:/pagina_a:/intervallo_pagine:/volume