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Athina Gkazi

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Expertise related to UN Sustainable Development Goals

In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):

  • SDG 3 - Good Health and Well-being

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Collaborations and top research areas from the last five years

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  • Association of Variants in the SPTLC1 Gene with Juvenile Amyotrophic Lateral Sclerosis

    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., & 277 othersGellera, 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., 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., Oct 2021, In: JAMA Neurology. 78, 10, p. 1236-1248 13 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    27 Citations (Scopus)
  • ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function

    de Majo, M., Topp, S. D., Smith, B. N., Nishimura, A. L., Chen, H-J., Soragia-Gkazi, A., Miller, J., Wong, C. H., Vance, C., Baas, F., ten Asbroek, A. LMA., Kenna, K. P., Ticozzi, N., Redondo, A. G., Esteban-Pérez, J., Tiloca, C., Verde, F., Duga, S., Morrison, K. E., Shaw, P. J., & 13 othersKirby, J., Turner, M. R., Talbot, K., Hardiman, O., Glass, J. D., de Belleroche, J., Gellera, C., Ratti, A., Al-Chalabi, A., Brown Jr., R. H., Silani, V., Landers, J. E. & Shaw, C. E., 1 Nov 2018, In: Neurobiology of Aging. 71, 0, p. 266.e1-266.e10

    Research output: Contribution to journalArticlepeer-review

    Open Access
    File
    54 Citations (Scopus)
    270 Downloads (Pure)
  • Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

    Nicolas, A., Kenna, K. P., 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. J. F. A., Geiger, J. T., van der Spek, R., Pliner, H. A., [Unknown], S., Smith, B. N., Marangi, G., & 38 othersTopp, S. D., Abramzon, Y., Gkazi, A. S., Eicher, J. D., Kenna, A., Logullo, F. O., Simone, I., Logroscino, G., Salvi, F., Bartolomei, I., Borghero, G., Murru, M. R., Costantino, E., Pani, C., Puddu, R., Caredda, C., Piras, V., Fratta, P., Fogh, I., Al-Sarraj, S., Troakes, C., Vance, C., Shatunov, A., Al-Chalabi, A., Iacoangeli, A., Newhouse, S., Shaw, C., Sproviero, W., Shaw, C. E., ITALSGEN Consortium, Genomic Translation for ALS Care (GTAC) Consortium, NYGC ALS Consortium, 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 & Al Khleifat, A., 21 Mar 2018, (E-pub ahead of print) In: Neuron. 97, 6, p. 1268 1 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    338 Citations (Scopus)
  • Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis

    Smith, B. N., Topp, S. D., Fallini, C., Shibata, H., Chen, H-J., Troakes, C., King, A., Ticozzi, N., Kenna, K. P., Soragia-Gkazi, A., Miller, J. W., Sato, A., Dias, D. M., Jeon, M., Vance, C., Wong, C. H., de Majo, M., Kattuah, W., Mitchell, J. C., Scotter, E. L., & 36 othersParkin, N. W., Sapp, P. C., Nolan, M., Nestor, P. J., Simpson, M., Weale, M., Lek, M., Baas, F., Vianney de Jong, J. M., Ten Asbroek, A. L. M. A., Redondo, A. G., Esteban-Pérez, J., Tiloca, C., Verde, F., Duga, S., Leigh, N., Pall, H., Morrison, K. E., Al-Chalabi, A., Shaw, P. J., Kirby, J., Turner, M. R., Talbot, K., Hardiman, O., Glass, J. D., De Belleroche, J., Maki, M., Moss, S. E., Miller, C., Gellera, C., Ratti, A., Al-Sarraj, S., Brown, R. H., Silani, V., Landers, J. E. & Shaw, C. E., 3 May 2017, In: Science Translational Medicine. 9, 388, 16 p., eaad9157.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    File
    88 Citations (Scopus)
    432 Downloads (Pure)
  • Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

    Cirulli, E. T., Lasseigne, B. N., Petrovski, S., Sapp, P. C., Dion, P. A., Leblond, C. S., Couthouis, J., Lu, Y-F., Wang, Q., Krueger, B. J., Ren, Z., Keebler, J., Han, Y., Levy, S. E., Boone, B. E., Wimbish, J. R., Waite, L. L., Jones, A. L., Carulli, J. P., Day-Williams, A. G., & 32 othersStaropoli, J. F., Xin, W. W., Chesi, A., Raphael, A. R., McKenna-Yasek, D., Cady, J., Vianney de Jong, J. M. B., Kenna, K. P., Smith, B. N., Topp, S., Miller, J., Gkazi, A., Al-Chalabi, A., van den Berg, L. H., Veldink, J., Silani, V., Ticozzi, N., Shaw, C. E., Baloh, R. H., Appel, S., Simpson, E., Lagier-Tourenne, C., Pulst, S. M., Gibson, S., Trojanowski, J. Q., Elman, L., McCluskey, L., Grossman, M., Shneider, N. A., Chung, W. K., FALS Sequencing Consortium & Troakes, C., 27 Mar 2015, In: Science. 347, 6229, p. 1436-1441 6 p.

    Research output: Contribution to journalArticlepeer-review

    663 Citations (Scopus)