20172020

Research output per year

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Research Output

2020

Does acute peripheral trauma contribute to idiopathic adult-onset dystonia?

Italian Dystonia Registry Participants, Feb 2020, In : Parkinsonism and Related Disorders. 71, p. 40-43 4 p.

Research output: Contribution to journalArticle

Does acute peripheral trauma contribute to idiopathic adult-onset dystonia?

Italian Dystonia Registry Participants, Jan 13 2020, In : Parkinsonism and Related Disorders. 71, p. 40-43 4 p.

Research output: Contribution to journalArticle

2019

A Novel Mutation of GFAP Causing Adult-Onset Alexander Disease

Ciammola, A., Sangalli, D., Sassone, J., Poletti, B., Carelli, L., Banfi, P., Pappacoda, G., Ceccherini, I., Grossi, A., Maderna, L., Pingue, M., Girotti, F. & Silani, V., 2019, In : Frontiers in Neurology. 10, p. 1124

Research output: Contribution to journalArticle

A Novel Mutation of GFAP Causing Adult-Onset Alexander Disease

Ciammola, A., Sangalli, D., Sassone, J., Poletti, B., Carelli, L., Banfi, P., Pappacoda, G., Ceccherini, I., Grossi, A., Maderna, L., Pingue, M., Girotti, F. & Silani, V., Nov 6 2019, In : Frontiers in Neurology. 10, 1124.

Research output: Contribution to journalArticle

Open Access

Diagnostic criteria for amyotrophic lateral sclerosis: A multicentre study of inter-rater variation and sensitivity

Johnsen, B., Pugdahl, K., Fuglsang-Frederiksen, A., Kollewe, K., Paracka, L., Dengler, R., Camdessanché, J. P., Nix, W., Liguori, R., Schofield, I., Maderna, L., Czell, D., Neuwirth, C., Weber, M., Drory, V. E., Abraham, A., Swash, M. & de Carvalho, M., Feb 2019, In : Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology. 130, 2, p. 307-314 8 p.

Research output: Contribution to journalArticle

2018

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

Answer ALS Foundation, Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, SLAGEN Consortium, French ALS Consortium, Project MinE ALS Sequencing Consortium, ITALSGEN consortium, Genomic Translation for ALS Care (GTAC) Consortium, ALS Sequencing Consortium, NYGC ALS Consortium & Caponnetto, C., Mar 21 2018, In : Neuron. 97, 6, p. 1268-1283.e6

Research output: Contribution to journalArticle

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

Nicolas, A., Kenna, K., Renton, A. E., Ticozzi, N., Faghri, F., Chia, R., Dominov, J. A., Kenna, B. J., Nalls, M. A., Keagle, P., Rivera, A. M., van Rheenen, W., Murphy, N. A., van Vugt, J., Geiger, J. T., Van der Spek, R. A., Pliner, H. A., [Unknown], S., Smith, B. N., Marangi, G. & 401 others, Topp, S. D., Abramzon, Y., Gkazi, A. S., Eicher, J. D., Kenna, A., Logullo, F. O., Simone, I. L., Logroscino, G., Salvi, F., Bartolomei, I., Borghero, G., Murru, M. R., Costantino, E., Pani, C., Puddu, R., Caredda, C., Piras, V., Tranquilli, S., Cuccu, S., Corongiu, D., Melis, M., Milia, A., Marrosu, F., Marrosu, M. G., Floris, G., Cannas, A., Capasso, M., Caponnetto, C., Mancardi, G., Origone, P., Mandich, P., Conforti, F. L., Cavallaro, S., Mora, G., Marinou, K., Sideri, R., Penco, S., Mosca, L., Lunetta, C., Pinter, G. L., Corbo, M., Riva, N., Carrera, P., Volanti, P., Mandrioli, J., Fini, N., Fasano, A., Tremolizzo, L., Arosio, A., Ferrarese, C., Trojsi, F., Tedeschi, G., Monsurrò, M. R., Piccirillo, G., Femiano, C., Ticca, A., Ortu, E., La Bella, V., Spataro, R., Colletti, T., Sabatelli, M., Zollino, M., Conte, A., Luigetti, M., Lattante, S., Santarelli, M., Petrucci, A., Pugliatti, M., Pirisi, A., Parish, L. D., Occhineri, P., Giannini, F., Battistini, S., Ricci, C., Benigni, M., Cau, T. B., Loi, D., Calvo, A., Moglia, C., Brunetti, M., Barberis, M., Restagno, G., Casale, F., Marrali, G., Fuda, G., Ossola, I., Cammarosano, S., Canosa, A., Ilardi, A., Manera, U., Grassano, M., Tanel, R., Pisano, F., Mazzini, L., Messina, S., D'Alfonso, S., Corrado, L., Ferrucci, L., Harms, M. B., Goldstein, D. B., Shneider, N. A., Goutman, S., Simmons, Z., Miller, T. M., Chandran, S., Pal, S., Manousakis, G., Appel, S. H., Simpson, E., Wang, L., Baloh, R. H., Gibson, S., Bedlack, R., Lacomis, D., Sareen, D., Sherman, A., Bruijn, L., Penny, M., Moreno, C. D. A. M., Kamalakaran, S., Allen, A. S., Boone, B. E., Brown, R., Carulli, J. P., Chesi, A., Chung, W. K., Cirulli, E. T., Cooper, G. M., Couthouis, J., Day-Williams, A. G., Dion, P. A., Gitler, A. D., Glass, J. D., Han, Y., Harris, T., Hayes, S. D., Jones, A. L., Keebler, J., Krueger, B. J., Lasseigne, B. N., Levy, S. E., Lu, Y-F., Maniatis, T., McKenna-Yasek, D., Myers, R. M., Petrovski, S., Pulst, S. M., Raphael, A. R., Ravits, J., Ren, Z., Rouleau, G. A., Sapp, P. C., Sims, K. B., Staropoli, J. F., Waite, L. L., Wang, Q., Wimbish, J. R., Xin, W. W., Phatnani, H., Kwan, J., Broach, J. R., Arcila-Londono, X., Lee, E. B., Van Deerlin, V. M., Fraenkel, E., Ostrow, L. W., Baas, F., Zaitlen, N., Berry, J. D., Malaspina, A., Fratta, P., Cox, G. A., Thompson, L. M., Finkbeiner, S., Dardiotis, E., Hornstein, E., MacGowan, D. J., Heiman-Patterson, T., Hammell, M. G., Patsopoulos, N. A., Dubnau, J., Nath, A., Musunuri, R. L., Evani, U. S., Abhyankar, A., Zody, M. C., Kaye, J., Wyman, S., LeNail, A., Lima, L., Rothstein, J. D., Svendsen, C. N., Van Eyk, J., Maragakis, N. J., Kolb, S. J., Cudkowicz, M., Baxi, E., Wyman, S. K., Van Eyk, J. E., Benatar, M., Taylor, J. P., Wu, G., Rampersaud, E., Wuu, J., Rademakers, R., Züchner, S., Schule, R., McCauley, J., Hussain, S., Cooley, A., Wallace, M., Clayman, C., Barohn, R., Statland, J., Ravits, J., Swenson, A., Jackson, C., Trivedi, J., Khan, S., Katz, J., Jenkins, L., Burns, T., Gwathmey, K., Caress, J., McMillan, C., Elman, L., Pioro, E., Heckmann, J., So, Y., Walk, D., Maiser, S., Zhang, J., Silani, V., Gellera, C., Ratti, A., Taroni, F., Lauria, G., Verde, F., Fogh, I., Tiloca, C., Comi, G. P., Sorarù, G., Cereda, C., De Marchi, F., Corti, S., Ceroni, M., Siciliano, G., Filosto, M., Inghilleri, M., Peverelli, S., Colombrita, C., Poletti, B., Maderna, L., Del Bo, R., Gagliardi, S., Querin, G., Bertolin, C., Pensato, V., Castellotti, B., Camu, W., Mouzat, K., Lumbroso, S., Corcia, P., Meininger, V., Besson, G., Lagrange, E., Clavelou, P., Guy, N., Couratier, P., Vourch, P., Danel, V., Bernard, E., Lemasson, G., Laaksovirta, H., Myllykangas, L., Jansson, L., Valori, M., Ealing, J., Hamdalla, H., Rollinson, S., Pickering-Brown, S., Orrell, R. W., Sidle, K. C., Hardy, J., Singleton, A. B., Johnson, J. O., Arepalli, S., Polak, M., Asress, S., Al-Sarraj, S., King, A., Troakes, C., Vance, C., de Belleroche, J., ten Asbroek, A. L. M. A., Muñoz-Blanco, J. L., Hernandez, D. G., Ding, J., Gibbs, J. R., Scholz, S. W., Floeter, M. K., Campbell, R. H., Landi, F., Bowser, R., MacGowan, D. J. L., Kirby, J., Pioro, E. P., Pamphlett, R., Broach, J., Gerhard, G., Dunckley, T. L., Brady, C. B., Kowall, N. W., Troncoso, J. C., Le Ber, I., Heiman-Patterson, T. D., Kamel, F., Van Den Bosch, L., Strom, T. M., Meitinger, T., Shatunov, A., Van Eijk, K. R., de Carvalho, M., Kooyman, M., Middelkoop, B., Moisse, M., McLaughlin, R. L., van Es, M., Weber, M., Boylan, K. B., Van Blitterswijk, M., Morrison, K., Basak, A. N., Mora, J. S., Drory, V., Shaw, P. J., Turner, M. R., Talbot, K., Hardiman, O., Williams, K. L., Fifita, J. A., Nicholson, G. A., Blair, I. P., Esteban-Pérez, J., García-Redondo, A., Al-Chalabi, A., Al Kheifat, A., Andersen, P., Chio, A., Cooper-Knock, J., Dekker, A., Drory, V., Redondo, A. G., Gotkine, M., Hide, W., Iacoangeli, A., Glass, J., Kenna, K., Kiernan, M., Landers, J., McLaughlin, R., Mill, J., Neto, M. M., Pardina, J. M., Morrison, K., Newhouse, S., Pinto, S., Pulit, S., Robberecht, W., Shaw, P., Shaw, C., Sproviero, W., Tazelaar, G., Van Damme, P., van den Berg, L., van Eijk, K., van Es, M., van Vugt, J., Veldink, J., Zatz, M., Bauer, D. C., Twine, N. A., Rogaeva, E., Zinman, L., Brice, A., Goutman, S. A., Feldman, E. L., Gibson, S. B., Ludolph, A. C., Andersen, P. M., Weishaupt, J. H., Trojanowski, J. Q., Brown R.H., J., van den Berg, L. H., Veldink, J. H., Stone, D. J., Tienari, P., Chiò, A., Shaw, C. E., Traynor, B. J. & Landers, J. E., 2018, In : Neuron. 97, 6, p. 1268-1283.e6

Research output: Contribution to journalArticle

R(+)-Thioctic Acid Effects on Oxidative Stress and Peripheral Neuropathy in Type II Diabetic Patients: Preliminary Results by Electron Paramagnetic Resonance and Electroneurography

Mrakic-Sposta, S., Vezzoli, A., Maderna, L., Gregorini, F., Montorsi, M., Moretti, S., Greco, F., Cova, E. & Gussoni, M., Jan 1 2018, In : Oxidative Medicine and Cellular Longevity. 2018, 1 p.

Research output: Contribution to journalArticle

2017

A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype

Bonati, M. T., Verde, F., Hladnik, U., Cattelan, P., Campana, L., Castronovo, C., Ticozzi, N., Maderna, L., Colombrita, C., Papa, S., Banfi, P. & Silani, V., Dec 2017, In : Molecular Genetics and Metabolism Reports. 13, p. 14-17 4 p.

Research output: Contribution to journalArticle