Zobrazeno 1 - 10
of 334
pro vyhledávání: '"Passaniti C"'
Autor:
Trojsi F; Department of Advanced Medical and Surgical Sciences, MRI Research Center, Università degli Studi della Campania Luigi Vanvitelli, Naples, Italy.; First Division of Neurology and Neurophysiopathology, AOU Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy., Canna A; Department of Advanced Medical and Surgical Sciences, MRI Research Center, Università degli Studi della Campania Luigi Vanvitelli, Naples, Italy.; Montreal Neurological Institute and Hospital, McGill University, Montreal, Quebec, Canada., Sharbafshaaer M; Department of Advanced Medical and Surgical Sciences, MRI Research Center, Università degli Studi della Campania Luigi Vanvitelli, Naples, Italy., di Nardo F; First Division of Neurology and Neurophysiopathology, AOU Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy., Canale F; Department of Advanced Medical and Surgical Sciences, MRI Research Center, Università degli Studi della Campania Luigi Vanvitelli, Naples, Italy.; First Division of Neurology and Neurophysiopathology, AOU Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy., Passaniti C; First Division of Neurology and Neurophysiopathology, AOU Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy., Pirozzi MA; Department of Advanced Medical and Surgical Sciences, MRI Research Center, Università degli Studi della Campania Luigi Vanvitelli, Naples, Italy., Silvestro M; Department of Advanced Medical and Surgical Sciences, MRI Research Center, Università degli Studi della Campania Luigi Vanvitelli, Naples, Italy., Orologio I; Department of Advanced Medical and Surgical Sciences, MRI Research Center, Università degli Studi della Campania Luigi Vanvitelli, Naples, Italy.; First Division of Neurology and Neurophysiopathology, AOU Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy., Russo A; Department of Advanced Medical and Surgical Sciences, MRI Research Center, Università degli Studi della Campania Luigi Vanvitelli, Naples, Italy.; First Division of Neurology and Neurophysiopathology, AOU Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy., Cirillo M; Department of Advanced Medical and Surgical Sciences, MRI Research Center, Università degli Studi della Campania Luigi Vanvitelli, Naples, Italy., Tessitore A; Department of Advanced Medical and Surgical Sciences, MRI Research Center, Università degli Studi della Campania Luigi Vanvitelli, Naples, Italy.; First Division of Neurology and Neurophysiopathology, AOU Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy., Siciliano M; Department of Advanced Medical and Surgical Sciences, MRI Research Center, Università degli Studi della Campania Luigi Vanvitelli, Naples, Italy.; Department of Psychology, Università degli Studi della Campania 'Luigi Vanvitelli', Caserta, Italy.; Neurosciences Research Centre, Molecular and Clinical Sciences Research Institute, St George's, University of London, London, UK., Esposito F; Department of Advanced Medical and Surgical Sciences, MRI Research Center, Università degli Studi della Campania Luigi Vanvitelli, Naples, Italy.
Publikováno v:
European journal of neurology [Eur J Neurol] 2025 Jan; Vol. 32 (1), pp. e16540. Date of Electronic Publication: 2024 Nov 11.
Autor:
Gianferrari G; Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena 41121, Italy.; Department of Neurosciences, Azienda Ospedaliero Universitaria di Modena, Modena 41126, Italy., Cuoghi Costantini R; Unit of Statistical and Methodological Support to Clinical Research, Azienda Ospedaliero-Universitaria, Modena 41121, Italy., Crippa V; Dipartimento di Scienze Farmacologiche e Biomolecolari 'Rodolfo Paoletti', Università degli Studi di Milano, Milan 20122, Italy.; Dipartimento di Eccellenza 2018-2027, Università degli Studi di Milano, Milan 20122, Italy., Carra S; Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena 41121, Italy., Bonetto V; Research Center for ALS, Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Milan 20156, Italy., Pansarasa O; Cellular Model and Neuroepigenetics Unit, IRCCS Mondino Foundation, Pavia 27100, Italy., Cereda C; Department of Pediatrics, Center of Functional Genomics and Rare diseases, 'V. Buzzi' Children's Hospital, Milan 20154, Italy., Zucchi E; Department of Neurosciences, Azienda Ospedaliero Universitaria di Modena, Modena 41126, Italy.; Neurosciences PhD Program, University of Modena and Reggio Emilia, Modena 41121, Italy., Martinelli I; Department of Neurosciences, Azienda Ospedaliero Universitaria di Modena, Modena 41126, Italy.; Clinical and Experimental Medicine PhD Program, University of Modena and Reggio Emilia, Modena 41121, Italy., Simonini C; Department of Neurosciences, Azienda Ospedaliero Universitaria di Modena, Modena 41126, Italy., Vicini R; Unit of Statistical and Methodological Support to Clinical Research, Azienda Ospedaliero-Universitaria, Modena 41121, Italy., Fini N; Department of Neurosciences, Azienda Ospedaliero Universitaria di Modena, Modena 41126, Italy., Trojsi F; Department of Advanced Medical and Surgical Sciences, ALS Center, Università degli Studi della Campania L. Vanvitelli, Naples 80138, Italy., Passaniti C; Department of Advanced Medical and Surgical Sciences, ALS Center, Università degli Studi della Campania L. Vanvitelli, Naples 80138, Italy., Ticozzi N; Department of Neurology, IRCCS Istituto Auxologico Italiano, Milan 20149, Italy.; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center, Università degli Studi di Milano, Milan 20122, Italy., Doretti A; Department of Neurology, IRCCS Istituto Auxologico Italiano, Milan 20149, Italy., Diamanti L; Neuroncology and Neuroinflammation Unit, IRCCS Mondino Foundation, Pavia 27100, Italy., Fiamingo G; Neuroncology and Neuroinflammation Unit, IRCCS Mondino Foundation, Pavia 27100, Italy., Conte A; Department of Aging, Neurological, Orthopedic and Head-Neck Sciences, Adult NEMO Clinical Center, Unit of Neurology, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome 00168, Italy., Dalla Bella E; 3rd Neurology Unit and Motor Neuron Disease Centre, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy., D'Errico E; Department of Basic Medical Sciences, ALS Center, Neurosciences and Sense Organs, University of Bari, Bari 70124, Italy., Scarian E; Cellular Model and Neuroepigenetics Unit, IRCCS Mondino Foundation, Pavia 27100, Italy., Pasetto L; Research Center for ALS, Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Milan 20156, Italy., Antoniani F; Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena 41121, Italy., Galli V; Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena 41121, Italy., Casarotto E; Dipartimento di Scienze Farmacologiche e Biomolecolari 'Rodolfo Paoletti', Università degli Studi di Milano, Milan 20122, Italy.; Dipartimento di Eccellenza 2018-2027, Università degli Studi di Milano, Milan 20122, Italy., D'Amico R; Unit of Statistical and Methodological Support to Clinical Research, Azienda Ospedaliero-Universitaria, Modena 41121, Italy.; Department of Medical and Surgical Sciences for Children and Adults, University of Modena and Reggio Emilia, Modena 41124, Italy., Poletti A; Dipartimento di Scienze Farmacologiche e Biomolecolari 'Rodolfo Paoletti', Università degli Studi di Milano, Milan 20122, Italy.; Dipartimento di Eccellenza 2018-2027, Università degli Studi di Milano, Milan 20122, Italy., Mandrioli J; Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena 41121, Italy.; Department of Neurosciences, Azienda Ospedaliero Universitaria di Modena, Modena 41126, Italy.
Publikováno v:
Brain communications [Brain Commun] 2024 Sep 05; Vol. 6 (5), pp. fcae304. Date of Electronic Publication: 2024 Sep 05 (Print Publication: 2024).
Akademický článek
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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:
Sassi S; Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Milan, Italy., Bianchi E; Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Milan, Italy., Diamanti L; Neuro-Oncology Unit, IRCCS Mondino Foundation, Pavia, Italy., Tornabene D; Neuro-Oncology Unit, IRCCS Mondino Foundation, Pavia, Italy.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy., Sette E; UO di Neurologia Dipartimento Neuroscienze e Riabilitazione, Azienda Ospedaliera Universitaria di Ferrara, Ferrara, Italy., Medici D; Presidio Ospedaliero Fidenza AUSL Parma, Fidenza, Italy., Matà S; Dipartimento Neuromuscoloscheletrico e Degli Organi di Senso, Azienda Ospedaliero-Universitaria di Careggi, Florence, Italy., Leccese D; Dipartimento Neuromuscoloscheletrico e Degli Organi di Senso, Azienda Ospedaliero-Universitaria di Careggi, Florence, Italy., Sperti M; Dipartimento Neuromuscoloscheletrico e Degli Organi di Senso, Azienda Ospedaliero-Universitaria di Careggi, Florence, Italy., Martinelli I; Department of Neurosciences, Azienda Ospedaliero Universitaria di Modena, Modena, Italy.; Clinical and Experimental Medicine PhD Program, University of Modena and Reggio Emilia, Modena, Italy., Ghezzi A; Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy., Mandrioli J; Department of Neurosciences, Azienda Ospedaliero Universitaria di Modena, Modena, Italy.; Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy.; Department of Biomedical, Metabolic and Neural Sciences, Centre for Neuroscience and Nanotechnology, University of Modena and Reggio Emilia, Modena, Italy., Iuzzolino VV; Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples Federico II, Naples, Italy., Dubbioso R; Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples Federico II, Naples, Italy., Trojsi F; Dipartimento di Scienze Mediche e Chirurgiche Avanzate, Università degli Studi della Campania 'Luigi Vanvitelli', P.Zza Miraglia 2, Naples, Italy., Passaniti C; Dipartimento di Scienze Mediche e Chirurgiche Avanzate, Università degli Studi della Campania 'Luigi Vanvitelli', P.Zza Miraglia 2, Naples, Italy., D'Alvano G; Dipartimento di Scienze Mediche e Chirurgiche Avanzate, Università degli Studi della Campania 'Luigi Vanvitelli', P.Zza Miraglia 2, Naples, Italy., Filosto M; Department of Clinical and Experimental Sciences, NeMO-Brescia Clinical Center for Neuromuscular Diseases, University of Brescia, Brescia, Italy., Padovani A; Department of Clinical and Experimental Sciences, Unit of Neurology ASST Spedali Civili Di Brescia, University of Brescia, Brescia, Italy., Mazzini L; ALS Center Azienda Ospedaliero Universitaria 'Maggiore della Carità' e Università del Piemonte Orientale, Novara, Italy., De Marchi F; ALS Center Azienda Ospedaliero Universitaria 'Maggiore della Carità' e Università del Piemonte Orientale, Novara, Italy., Zinno L; Department of Medicine and Surgery, University of Parma, Parma, Italy., Nuredini A; Department of Medicine and Surgery, University of Parma, Parma, Italy., Bongioanni P; Dpt. Medical Specialties, Azienda Ospedaliero-Universitaria Pisana, Pisa, Italy., Dolciotti C; Dpt. Medical Specialties, Azienda Ospedaliero-Universitaria Pisana, Pisa, Italy., Canali E; U.O di Neurologia, Presidio Ospedaliero S.Maria Nuova Azienda USL, IRCCS di Reggio Emilia, Florence, Italy., Toschi G; U.O di Neurologia, Presidio Ospedaliero S.Maria Nuova Azienda USL, IRCCS di Reggio Emilia, Florence, Italy., Petrucci A; Center for Neuromuscular and Neurological Rare Diseases, San Camillo Forlanini Hospital, Rome, Italy., Perna A; Center for Neuromuscular and Neurological Rare Diseases, San Camillo Forlanini Hospital, Rome, Italy., Riso V; Center for Neuromuscular and Neurological Rare Diseases, San Camillo Forlanini Hospital, Rome, Italy., Inghilleri M; Dipartimento di Neuroscienze Umane, Università di Roma 'Sapienza' UOSD Malattie Neurodegenerative-Centro Malattie Rare Neuromuscolari, Policlinico Universitario Umberto I, Rome, Italy., Libonati L; Dipartimento di Neuroscienze Umane, Università di Roma 'Sapienza' UOSD Malattie Neurodegenerative-Centro Malattie Rare Neuromuscolari, Policlinico Universitario Umberto I, Rome, Italy. laura.libonati@uniroma1.it., Cambieri C; Dipartimento di Neuroscienze Umane, Università di Roma 'Sapienza' UOSD Malattie Neurodegenerative-Centro Malattie Rare Neuromuscolari, Policlinico Universitario Umberto I, Rome, Italy., Pupillo E; Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Milan, Italy.
Publikováno v:
Journal of neurology [J Neurol] 2023 Nov; Vol. 270 (11), pp. 5344-5357. Date of Electronic Publication: 2023 Jun 28.
Autor:
Sassi S; Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Milan, Italy., Bianchi E; Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Milan, Italy., Diamanti L; Neuro-Oncology Unit, IRCCS Mondino Foundation, Pavia, Italy., Tornabene D; Neuro-Oncology Unit, IRCCS Mondino Foundation, Pavia, Italy.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy., Sette E; UO di Neurologia Dipartimento Neuroscienze e Riabilitazione, Azienda Ospedaliera Universitaria di Ferrara, Ferrara, Italy., Medici D; Presidio Ospedaliero Fidenza AUSL Parma, Fidenza, Italy., Matà S; Dipartimento Neuromuscoloscheletrico e Degli Organi di Senso, Azienda Ospedaliero-Universitaria di Careggi, Florence, Italy., Leccese D; Dipartimento Neuromuscoloscheletrico e Degli Organi di Senso, Azienda Ospedaliero-Universitaria di Careggi, Florence, Italy., Sperti M; Dipartimento Neuromuscoloscheletrico e Degli Organi di Senso, Azienda Ospedaliero-Universitaria di Careggi, Florence, Italy., Martinelli I; Department of Neurosciences, Azienda Ospedaliero Universitaria di Modena, Modena, Italy.; Clinical and Experimental Medicine PhD Program, University of Modena and Reggio Emilia, Modena, Italy., Ghezzi A; Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy., Mandrioli J; Department of Neurosciences, Azienda Ospedaliero Universitaria di Modena, Modena, Italy.; Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy.; Department of Biomedical, Metabolic and Neural Sciences, Centre for Neuroscience and Nanotechnology, University of Modena and Reggio Emilia, Modena, Italy., Iuzzolino VV; Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples Federico II, Naples, Italy., Dubbioso R; Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples Federico II, Naples, Italy., Trojsi F; Dipartimento di Scienze Mediche e Chirurgiche Avanzate, Università degli Studi della Campania 'Luigi Vanvitelli', P.Zza Miraglia 2, Naples, Italy., Passaniti C; Dipartimento di Scienze Mediche e Chirurgiche Avanzate, Università degli Studi della Campania 'Luigi Vanvitelli', P.Zza Miraglia 2, Naples, Italy., D'Alvano G; Dipartimento di Scienze Mediche e Chirurgiche Avanzate, Università degli Studi della Campania 'Luigi Vanvitelli', P.Zza Miraglia 2, Naples, Italy., Filosto M; Department of Clinical and Experimental Sciences, NeMO-Brescia Clinical Center for Neuromuscular Diseases, University of Brescia, Brescia, Italy., Padovani A; Department of Clinical and Experimental Sciences, Unit of Neurology ASST Spedali Civili Di Brescia, University of Brescia, Brescia, Italy., Mazzini L; ALS Center Azienda Ospedaliero Universitaria 'Maggiore della Carità' e Università del Piemonte Orientale, Novara, Italy., De Marchi F; ALS Center Azienda Ospedaliero Universitaria 'Maggiore della Carità' e Università del Piemonte Orientale, Novara, Italy., Zinno L; Department of Medicine and Surgery, University of Parma, Parma, Italy., Nuredini A; Department of Medicine and Surgery, University of Parma, Parma, Italy., Bongioanni P; Dpt. Medical Specialties, Azienda Ospedaliero-Universitaria Pisana, Pisa, Italy., Dolciotti C; Dpt. Medical Specialties, Azienda Ospedaliero-Universitaria Pisana, Pisa, Italy., Canali E; U.O di Neurologia, Presidio Ospedaliero S.Maria Nuova Azienda USL, IRCCS di Reggio Emilia, Florence, Italy., Toschi G; U.O di Neurologia, Presidio Ospedaliero S.Maria Nuova Azienda USL, IRCCS di Reggio Emilia, Florence, Italy., Petrucci A; Center for Neuromuscular and Neurological Rare Diseases, San Camillo Forlanini Hospital, Rome, Italy., Perna A; Center for Neuromuscular and Neurological Rare Diseases, San Camillo Forlanini Hospital, Rome, Italy., Riso V; Center for Neuromuscular and Neurological Rare Diseases, San Camillo Forlanini Hospital, Rome, Italy., Inghilleri M; Dipartimento di Neuroscienze Umane, Università di Roma 'Sapienza' UOSD Malattie Neurodegenerative-Centro Malattie Rare Neuromuscolari, Policlinico Universitario Umberto I, Rome, Italy., Libonati L; Dipartimento di Neuroscienze Umane, Università di Roma 'Sapienza' UOSD Malattie Neurodegenerative-Centro Malattie Rare Neuromuscolari, Policlinico Universitario Umberto I, Rome, Italy. laura.libonati@uniroma1.it., Cambieri C; Dipartimento di Neuroscienze Umane, Università di Roma 'Sapienza' UOSD Malattie Neurodegenerative-Centro Malattie Rare Neuromuscolari, Policlinico Universitario Umberto I, Rome, Italy., Pupillo E; Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Milan, Italy.
Publikováno v:
Journal of neurology [J Neurol] 2023 Nov; Vol. 270 (11), pp. 5358-5359.
Autor:
Spina E., Trojsi F., Tozza S., Iovino A., Iodice R., Passaniti C., Abbadessa G., Bonavita S., Leocani L., Tedeschi G., Manganelli F., Lavorgna L.
The original article contains an error. The collaborators name “on behalf of Digital Technologies, Web and Social Media Study Group of the Italian Society of Neurology (SIN)” was missing during processing. This is now presented above. The origina
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::42872158c7d42b42110c17a949e24672
Autor:
Trojsi F; Department of Advanced Medical and Surgical Sciences, MRI Research Center, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.; First Division of Neurology, University Hospital Università degli studi della Campania 'Luigi Vanvitelli', Naples, Italy., Di Nardo F; Department of Advanced Medical and Surgical Sciences, MRI Research Center, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy., D'Alvano G; Department of Advanced Medical and Surgical Sciences, MRI Research Center, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy., Passaniti C; Department of Advanced Medical and Surgical Sciences, MRI Research Center, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy., Sharbafshaaer M; Department of Advanced Medical and Surgical Sciences, MRI Research Center, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy., Canale F; Department of Advanced Medical and Surgical Sciences, MRI Research Center, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy., Russo A; Department of Advanced Medical and Surgical Sciences, MRI Research Center, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.; First Division of Neurology, University Hospital Università degli studi della Campania 'Luigi Vanvitelli', Naples, Italy., Silvestro M; Department of Advanced Medical and Surgical Sciences, MRI Research Center, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy., Lavorgna L; First Division of Neurology, University Hospital Università degli studi della Campania 'Luigi Vanvitelli', Naples, Italy., Cirillo M; Department of Advanced Medical and Surgical Sciences, MRI Research Center, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy., Esposito F; Department of Advanced Medical and Surgical Sciences, MRI Research Center, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy., Tedeschi G; Department of Advanced Medical and Surgical Sciences, MRI Research Center, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.; First Division of Neurology, University Hospital Università degli studi della Campania 'Luigi Vanvitelli', Naples, Italy., Siciliano M; Department of Advanced Medical and Surgical Sciences, MRI Research Center, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.
Publikováno v:
Brain and behavior [Brain Behav] 2023 Jul; Vol. 13 (7), pp. e2931. Date of Electronic Publication: 2023 Jun 22.
Autor:
Trojsi F; Department of Advanced Medical and Surgical Sciences, MRI Research Center, Università degli Studi della Campania 'Luigi Vanvitelli', P.Zza Miraglia 2, 80138, Naples, Italy. francesca.trojsi@unicampania.it., Di Nardo F; Department of Advanced Medical and Surgical Sciences, MRI Research Center, Università degli Studi della Campania 'Luigi Vanvitelli', P.Zza Miraglia 2, 80138, Naples, Italy., D'Alvano G; Department of Advanced Medical and Surgical Sciences, MRI Research Center, Università degli Studi della Campania 'Luigi Vanvitelli', P.Zza Miraglia 2, 80138, Naples, Italy., Caiazzo G; Department of Advanced Medical and Surgical Sciences, MRI Research Center, Università degli Studi della Campania 'Luigi Vanvitelli', P.Zza Miraglia 2, 80138, Naples, Italy., Passaniti C; Department of Advanced Medical and Surgical Sciences, MRI Research Center, Università degli Studi della Campania 'Luigi Vanvitelli', P.Zza Miraglia 2, 80138, Naples, Italy., Mangione A; Department of Advanced Medical and Surgical Sciences, MRI Research Center, Università degli Studi della Campania 'Luigi Vanvitelli', P.Zza Miraglia 2, 80138, Naples, Italy., Sharbafshaaer M; Department of Advanced Medical and Surgical Sciences, MRI Research Center, Università degli Studi della Campania 'Luigi Vanvitelli', P.Zza Miraglia 2, 80138, Naples, Italy., Russo A; Department of Advanced Medical and Surgical Sciences, MRI Research Center, Università degli Studi della Campania 'Luigi Vanvitelli', P.Zza Miraglia 2, 80138, Naples, Italy., Silvestro M; Department of Advanced Medical and Surgical Sciences, MRI Research Center, Università degli Studi della Campania 'Luigi Vanvitelli', P.Zza Miraglia 2, 80138, Naples, Italy., Siciliano M; Department of Advanced Medical and Surgical Sciences, MRI Research Center, Università degli Studi della Campania 'Luigi Vanvitelli', P.Zza Miraglia 2, 80138, Naples, Italy., Cirillo M; Department of Advanced Medical and Surgical Sciences, MRI Research Center, Università degli Studi della Campania 'Luigi Vanvitelli', P.Zza Miraglia 2, 80138, Naples, Italy., Tedeschi G; Department of Advanced Medical and Surgical Sciences, MRI Research Center, Università degli Studi della Campania 'Luigi Vanvitelli', P.Zza Miraglia 2, 80138, Naples, Italy., Esposito F; Department of Advanced Medical and Surgical Sciences, MRI Research Center, Università degli Studi della Campania 'Luigi Vanvitelli', P.Zza Miraglia 2, 80138, Naples, Italy.
Publikováno v:
Brain imaging and behavior [Brain Imaging Behav] 2023 Feb; Vol. 17 (1), pp. 77-89. Date of Electronic Publication: 2022 Nov 12.
Autor:
Canna A; Department of Advanced Medical and Surgical Sciences, University of Campania 'Luigi Vanvitelli', Naples, Italy., Esposito F; Department of Advanced Medical and Surgical Sciences, University of Campania 'Luigi Vanvitelli', Naples, Italy., Tedeschi G; Department of Advanced Medical and Surgical Sciences, University of Campania 'Luigi Vanvitelli', Naples, Italy., Trojsi F; Department of Advanced Medical and Surgical Sciences, University of Campania 'Luigi Vanvitelli', Naples, Italy., Passaniti C; Department of Advanced Medical and Surgical Sciences, University of Campania 'Luigi Vanvitelli', Naples, Italy., di Meo I; Department of Advanced Medical and Surgical Sciences, University of Campania 'Luigi Vanvitelli', Naples, Italy., Polito R; Department of Advanced Medical and Surgical Sciences, University of Campania 'Luigi Vanvitelli', Naples, Italy., Maiorino MI; Department of Advanced Medical and Surgical Sciences, University of Campania 'Luigi Vanvitelli', Naples, Italy., Paolisso G; Department of Advanced Medical and Surgical Sciences, University of Campania 'Luigi Vanvitelli', Naples, Italy., Cirillo M; Department of Advanced Medical and Surgical Sciences, University of Campania 'Luigi Vanvitelli', Naples, Italy., Rizzo MR; Department of Advanced Medical and Surgical Sciences, University of Campania 'Luigi Vanvitelli', Naples, Italy.
Publikováno v:
Frontiers in aging neuroscience [Front Aging Neurosci] 2022 Sep 01; Vol. 14, pp. 976340. Date of Electronic Publication: 2022 Sep 01 (Print Publication: 2022).