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Research Output 2016 2019

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Article
2019
Cerebrospinal Fluid
Amyotrophic Lateral Sclerosis
Frontotemporal Dementia
Biomarkers
Frontotemporal Dementia With Motor Neuron Disease
Open Access
Frontotemporal Dementia
splicing
proteins
cells
RNA
RNA-Binding Proteins
Exons
Schizophrenia
Genes
Neurons
2018

Characterization of the c9orf72 GC-rich low complexity sequence in two cohorts of Italian and Turkish ALS cases

Corrado, L., Tiloca, C., Locci, C., Bagarotti, A., Hamzeiy, H., Colombrita, C., De marchi, F., Barizzone, N., Cotella, D., Ticozzi, N., Mazzini, L., Nazli Basak, A. Y. S. E., Ratti, A., Silani, V. & D’alfonso, S., Jul 3 2018, In : Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 19, 5-6, p. 426-431 6 p.

Research output: Contribution to journalArticle

GC Rich Sequence
Amyotrophic Lateral Sclerosis
Genes

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

Kinesin
Genome
Mutation
Genes
Genome-Wide Association Study

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

No C9orf72 repeat expansion in patients with primary progressive multiple sclerosis

Tiloca, C., Sorosina, M., Esposito, F., Peroni, S., Colombrita, C., Ticozzi, N., Ratti, A., Boneschi, F. M. & Silani, V., Oct 1 2018, In : Multiple Sclerosis and Related Disorders. 25, p. 192-195 4 p.

Research output: Contribution to journalArticle

Chronic Progressive Multiple Sclerosis
Multiple Sclerosis
Alleles
Amyotrophic Lateral Sclerosis
Parkinson Disease
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 1 2017, In : Molecular Genetics and Metabolism Reports. 13, p. 14-17 4 p.

Research output: Contribution to journalArticle

Menkes Kinky Hair Syndrome
Phenotype
Maintenance
Proteins
Occipital horn syndrome

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

Menkes Kinky Hair Syndrome
Phenotype
Maintenance
Proteins
Occipital horn syndrome
2016

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Kenna, K. P., van Doormaal, P. T. C., Dekker, A. M., Ticozzi, N., Kenna, B. J., Diekstra, F. P., Van Rheenen, W., van Eijk, K. R., Jones, R. A., Keagle, P. J., Shatunov, A., Sproviero, W., Smith, B. N., van Es, M. A., Topp, S. D., Kenna, M. A., Miller, W. J., Fallini, C., Tiloca, C., McLaughlin, R. L. & 64 others, Vance, C., Troakes, C., Colombrita, C., Mora, G., Calvo, F. A., Verde, F., Al-Sarraj, S., King, A., Calini, D., De Belleroche, J., Baas, A. F., Van Der Kooi, A. J., De Visser, M., ten Asbroek, A. L. M. A., Sapp, P. C., McKenna-Yasek, D., Polak, M., Asress, S., Muñoz-Blanco, J. L., Strom, T. M., Meitinger, T., Morrison, K. E., Lauria, G., Williams, K. L., Leigh, P. N., Nicholson, A. G., Blair, I. P., Leblond, C. S., Dion, P. A., Rouleau, G. A., Pall, H., Shaw, P. J., Turner, M. R., Talbot, K., Taroni, F., Boylan, K. B., Van Blitterswijk, M., Rademakers, R., Esteban-Pérez, J., García-Redondo, A., van Damme, P., Robberecht, W., Di Chio, A., Gellera, C., Drepper, C., Sendtner, M., Ratti, A., Glass, J. D., Mora, J. S., Basak, A. N., Hardiman, O., Ludolph, A. C., Andersen, P. M., Weishaupt, J. H., Brown, R. H., Al-Chalabi, A., Silani, V., Shaw, E. C., Van Den Berg, L. H., Veldink, J. H., Landers, J. E., Comi, G. P., Del Bo, R. & Corti, S. P., 2016, In : Nature Genetics. 48, 9, p. 1037-1042 6 p.

Research output: Contribution to journalArticle