Simon Topp

Simon Topp

Mr

 https://orcid.org/0000-0002-5200-3284
  • Phone80606
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Personal profile

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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  • SOD1-ALS-Browser: a web-utility for investigating the clinical phenotype in SOD1 amyotrophic lateral sclerosis

    Spargo, T., Martin, S., Hunt, G., Kalia, M., Al Khleifat, A., Topp, S., Shaw, C., Al-Chalabi, A. & Iacoangeli, A., 3 Aug 2023, (E-pub ahead of print) In: Amyotrophic lateral sclerosis & frontotemporal degeneration.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    File
    1 Downloads (Pure)

  • Telomere length analysis in amyotrophic lateral sclerosis using large-scale whole genome sequence data

    Al Khleifat, A., Iacoangeli, A., Jones, A., van Vugt, J., Shatunov, A., Moisse, M., Shatunov, A., Zwamborn, R. A. J., van der Spek, R., Cooper-Knock, J., Topp, S., van Rheenen, W., Kenna, B. J., van Eijk, K. R., Kenna, K. P., Byrne, R. P., López Alonso, V., Opie-Martin, S., Vural, A., González, Y., & 25 othersWeber, M., Smith, B., Fogh, I., Silani, V., Morrison, K. E., Dobson, R., van Es, M. A., McLaughlin, R. L., Chio, A., Corcia, P., de Carvalho, M., Gotkine, M., Panades, M. P., Mora, J. S., Shaw, P. J., Landers, J. E., Glass, J. D., Shaw, C., Başak, A. N., Hardiman, O., Robberecht, W., Van Damme, P., van den Berg, L., Veldink, J. & Al-Chalabi, A., 15 Nov 2022, In: Frontiers in cellular neuroscience.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    File
    40 Downloads (Pure)

  • The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration

    Opie-Martin, S., Iacoangeli, A., Topp, S. D., Abel, O., Mayl, K., Mehta, P. R., Shatunov, A., Fogh, I., Bowles, H., Limbachiya, N., Spargo, T. P., Al-Khleifat, A., Williams, K. L., Jockel-Balsarotti, J., Bali, T., Self, W., Henden, L., Nicholson, G. A., Ticozzi, N., McKenna-Yasek, D., & 29 othersTang, L., Shaw, P. J., Chio, A., Ludolph, A., Weishaupt, J. H., Landers, J. E., Glass, J. D., Mora, J. S., Robberecht, W., Damme, P. V., McLaughlin, R., Hardiman, O., van den Berg, L., Veldink, J. H., Corcia, P., Stevic, Z., Siddique, N., Silani, V., Blair, I. P., Fan, D. S., Esselin, F., de la Cruz, E., Camu, W., Basak, N. A., Siddique, T., Miller, T., Brown, R. H., Al-Chalabi, A. & Shaw, C. E., Dec 2022, In: Nature Communications. 13, 1, 6901.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    2 Citations (Scopus)

  • A recessive S174X mutation in Optineurin causes amyotrophic lateral sclerosis through a loss of function via allele-specific nonsense-mediated decay

    Gotkine, M., de Majo, M., Wong, C. H., Topp, S. D., Michaelson-Cohen, R., Epsztejn-Litman, S., Eiges, R., Y, Y. L., Kanaan, M., Shaked, H. M., Alahmady, N., Vance, C., Newhouse, S. J., Breen, G., Nishimura, A. L., Shaw, C. E. & Smith, B. N., Oct 2021, In: Neurobiology of Aging. 106, p. 351.e1-351.e6

    Research output: Contribution to journal › Article › peer-review

    2 Citations (Scopus)

  • 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 journal › Article › peer-review

    Open Access
    27 Citations (Scopus)
View all 35 research outputs