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    Citations

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

External positions

Staff Scientist, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892-9404, USA.

1 Jan 200625 Nov 2008

Postdoctoral Scientist, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892-9404, USA.

5 May 20011 Jan 2006

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Collaborations and top research areas from the last five years

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  • 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 journalArticlepeer-review

    Open Access
    File
    2 Citations (Scopus)
    46 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 journalArticlepeer-review

    Open Access
    10 Citations (Scopus)
  • Whole-genome sequencing reveals that variants in the Interleukin 18 Receptor Accessory Protein 3'UTR protect against ALS

    Project MinE ALS Sequencing Consortium, NYGC ALS Consortium, Eitan, C., Siany, A., Barkan, E., Olender, T., van Eijk, K. R., Moisse, M., Farhan, S. M. K., Danino, Y. M., Yanowski, E., Marmor-Kollet, H., Rivkin, N., Yacovzada, N. S., Hung, S. T., Cooper-Knock, J., Yu, C. H., Louis, C., Masters, S. L., Kenna, K. P., & 26 othersvan der Spek, R. A. A., Sproviero, W., Al Khleifat, A., Iacoangeli, A., Shatunov, A., Jones, A. R., Elbaz-Alon, Y., Cohen, Y., Chapnik, E., Rothschild, D., Weissbrod, O., Beck, G., Ainbinder, E., Ben-Dor, S., Werneburg, S., Schafer, D. P., Brown, R. H., Shaw, P. J., Van Damme, P., van den Berg, L. H., Phatnani, H., Segal, E., Ichida, J. K., Al-Chalabi, A., Veldink, J. H. & Hornstein, E., 1 Apr 2022, In: Nature Neuroscience. 25, 4, p. 433-445 13 p.

    Research output: Contribution to journalArticlepeer-review

    15 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 journalArticlepeer-review

    Open Access
    42 Citations (Scopus)
  • Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

    SLALOM Consortium, PARALS Consortium, SLAGEN Consortium, SLAP Consortium, van Rheenen, W., van der Spek, R. A. A., Bakker, M. K., van Vugt, J. J. F. A., Hop, P. J., Zwamborn, R. A. J., de Klein, N., Westra, H. J., Bakker, O. B., Deelen, P., Shireby, G., Hannon, E., Moisse, M., Baird, D., Restuadi, R., Dolzhenko, E., & 34 othersDekker, A. M., Gawor, K., Westeneng, H. J., Tazelaar, G. H. P., van Eijk, K. R., Kooyman, M., Byrne, R. P., Doherty, M., Heverin, M., Al Khleifat, A., Iacoangeli, A., Shatunov, A., Ticozzi, N., Cooper-Knock, J., Smith, B. N., Gromicho, M., Chandran, S., Pal, S., Morrison, K. E., Shaw, P. J., Hardy, J., Orrell, R. W., Sendtner, M., Meyer, T., Başak, N., van der Kooi, A. J., Ratti, A., Fogh, I., Wood, N. W., Topp, S., Curtis, C. J., Breen, G., Shaw, C. E. & Al-Chalabi, A., Dec 2021, In: Nature genetics. 53, 12, p. 1636-1648 13 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    163 Citations (Scopus)