The role of mutant cyclin F in amyotrophic lateral sclerosis

  • Blair, Ian (Primary Chief Investigator)
  • Atkin, Julie (Chief Investigator)
  • Chung, Roger (Chief Investigator)
  • Yerbury, Justin (Chief Investigator)
  • Ooi, Lezanne (Chief Investigator)
  • Rowe, Dominic (Associate Investigator)
  • Burgio, Gaetan (Associate Investigator)
  • Nicholson, Garth (Associate Investigator)
  • Halliday, Glenda (Associate Investigator)
  • Molloy, Mark (Associate Investigator)
  • Karl, Tim (Associate Investigator)

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  • ALS/FTD-causing mutation in cyclin F causes the dysregulation of SFPQ

    Rayner, S. L., Cheng, F., Hogan, A. L., Grima, N., Yang, S., Ke, Y. D., Au, C. G., Morsch, M., De Luca, A., Davidson, J. M., Molloy, M. P., Shi, B., Ittner, L. M., Blair, I., Chung, R. S. & Lee, A., 1 Jun 2021, In: Human Molecular Genetics. 30, 11, p. 971-984 14 p.

    Research output: Contribution to journalArticlepeer-review

    1 Citation (Scopus)
  • CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

    Williams, K. L., Topp, S., Yang, S., Smith, B., Fifita, J. A., Warraich, S. T., Zhang, K. Y., Farrawell, N., Vance, C., Hu, X., Chesi, A., Leblond, C. S., Lee, A., Rayner, S. L., Sundaramoorthy, V., Dobson-Stone, C., Molloy, M. P., Van Blitterswijk, M., Dickson, D. W., Petersen, R. C. & 48 others, Graff-Radford, N. R., Boeve, B. F., Murray, M. E., Pottier, C., Don, E., Winnick, C., McCann, E. P., Hogan, A., Daoud, H., Levert, A., Dion, P. A., Mitsui, J., Ishiura, H., Takahashi, Y., Goto, J., Kost, J., Gellera, C., Gkazi, A. S., Miller, J., Stockton, J., Brooks, W. S., Boundy, K., Polak, M., Muñoz-Blanco, J. L., Esteban-Pérez, J., Rábano, A., Hardiman, O., Morrison, K. E., Ticozzi, N., Silani, V., De Belleroche, J., Glass, J. D., Kwok, J. B. J., Guillemin, G. J., Chung, R. S., Tsuji, S., Brown, R. H., García-Redondo, A., Rademakers, R., Landers, J. E., Gitler, A. D., Rouleau, G. A., Cole, N. J., Yerbury, J. J., Atkin, J. D., Shaw, C. E., Nicholson, G. A. & Blair, I. P., 15 Apr 2016, In: Nature Communications. 7, p. 1-8 8 p., 11253.

    Research output: Contribution to journalArticlepeer-review

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    106 Citations (Scopus)
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  • Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis

    McCann, E. P., Henden, L., Fifita, J. A., Zhang, K. Y., Grima, N., Bauer, D. C., Fat, S. C. M., Twine, N. A., Pamphlett, R., Kiernan, M. C., Rowe, D. B., Williams, K. L. & Blair, I. P., 1 Feb 2021, In: Journal of Medical Genetics. 58, 2, p. 87-95 9 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    8 Citations (Scopus)
  • 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., Shankaracharya, Smith, B. N., Marangi, G. & 193 others, Topp, S. D., Abramzon, Y., Gkazi, A. S., Eicher, J. D., Kenna, A., ITALSGEN Consortium, Mora, G., Calvo, A., Mazzini, L., Riva, N., Mandrioli, J., Caponnetto, C., Battistini, S., Volanti, P., La Bella, V., Conforti, F. L., Borghero, G., Messina, S., Simone, I. L., Trojsi, F., Salvi, F., Logullo, F. O., D'Alfonso, S., Corrado, L., Capasso, M., Ferrucci, L., Genomic Translation for ALS Care (GTAC) Consortium, Moreno, C. D. A. M., Kamalakaran, S., Goldstein, D. B., ALS Sequencing Consortium, Gitler, A. D., Harris, T., Myers, R. M., NYGC ALS Consortium, Phatnani, H., Musunuri, R. L., Evani, U. S., Abhyankar, A., Zody, M. C., Answer ALS Foundation, Kaye, J., Finkbeiner, S., Wyman, S. K., LeNail, A., Lima, L., Fraenkel, E., Svendsen, C. N., Thompson, L. M., Van Eyk, J. E., Berry, J. D., Miller, T. M., Kolb, S. J., Cudkowicz, M., Baxi, E., Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, Benatar, M., Taylor, J. P., Rampersaud, E., Wu, G., Wuu, J., SLAGEN Consortium, Lauria, G., Verde, F., Fogh, I., Tiloca, C., Comi, G. P., Sorarù, G., Cereda, C., French ALS Consortium, Corcia, P., Laaksovirta, H., Myllykangas, L., Jansson, L., Valori, M., Ealing, J., Hamdalla, H., Rollinson, S., Pickering-Brown, S., Orrell, R. W., Sidle, K. C., Malaspina, A., Hardy, J., Singleton, A. B., Johnson, J. O., Arepalli, S., Sapp, P. C., McKenna-Yasek, D., Polak, M., Asress, S., Al-Saraj, S., King, A., Troakes, C., Vance, C., de Belleroche, J., Baas, F., 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., Pulst, S. M., Ravits, J. M., 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., Mouzat, K., Lumbroso, S., Heiman-Patterson, T. D., Kamel, F., van den Bosch, L., Baloh, R. H., 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. A., Weber, M., Boylan, K. B., Van Blitterswijk, M., Rademakers, R., Morrison, K. E., Basak, A. N., Mora, J. S., Drory, V. E., Shaw, P. J., Turner, M. R., Talbot, K., Hardiman, O., Williams, K. L., Fifita, J. A., Nicholson, G. A., Blair, I. P., Rouleau, G. A., Esteban-Pérez, J., García-Redondo, A., Al-Chalabi, A., Project MinE ALS Sequencing Consortium, Rogaeva, E., Zinman, L., Ostrow, L. W., Maragakis, N. J., Rothstein, J. D., Simmons, Z., Cooper-Knock, J., Brice, A., Goutman, S. A., Feldman, E. L., Gibson, S. B., Taroni, F., Ratti, A., Gellera, C., Van Damme, P., Robberecht, W., Fratta, P., Sabatelli, M., Lunetta, C., Ludolph, A. C., Andersen, P. M., Weishaupt, J. H., Camu, W., Trojanowski, J. Q., Van Deerlin, V. M., Brown, R. H., van den Berg, L. H., Veldink, J. H., Harms, M. B., Glass, J. D., Stone, D. J., Tienari, P., Silani, V., Chiò, A., Shaw, C. E., Traynor, B. J. & Landers, J. E., 21 Mar 2018, In: Neuron. 97, 6, p. 1268-1283 16 p.

    Research output: Contribution to journalArticlepeer-review

    203 Citations (Scopus)
  • Open Access
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