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  1. 2021

  2. An alternative approach to produce versatile retinal organoids with accelerated ganglion cell development

    Wagstaff, P. E., ten Asbroek, A. L. M. A., ten Brink, J. B., Jansonius, N. M. & Bergen, A. A. B., 1 Dec 2021, In: Scientific reports. 11, 1, 1101.

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

  3. 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., & 278 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., 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., Shaw, P. J., 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 › Academic › peer-review

  4. A review of treatment modalities in gyrate atrophy of the choroid and retina (GACR)

    Balfoort, B. M., Buijs, M. J. N., ten Asbroek, A. L. M. A., Bergen, A. A. B., Boon, C. J. F., Ferreira, E. A., Houtkooper, R. H., Wagenmakers, M. A. E. M., Wanders, R. J. A., Waterham, H. R., Timmer, C., van Karnebeek, C. D. & Brands, M. M., 1 Sept 2021, In: Molecular genetics and metabolism. 134, 1-2, p. 96-116 21 p.

    Research output: Contribution to journal › Review article › Academic › peer-review

  5. The role of small molecules and their effect on the molecular mechanisms of early retinal organoid development

    Wagstaff, P. E., Berzal, A. H., Boon, C. J. F., Quinn, P. M. J., ten Asbroek, A. L. M. A. & Bergen, A. A., 1 Jul 2021, In: International journal of molecular sciences. 22, 13, 7081.

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

  6. Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

    The PROSPECT Consortium, The American Genome Center (TAGC), The FALS Sequencing Consortium, The Genomics England Research Consortium, The International ALS/FTD Genomics Consortium (iAFGC), The International FTD Genetics Consortium (IFGC), The International LBD Genomics Consortium (iLBDGC), The NYGC ALS Consortium & the University of Maryland Brain and Tissue Bank and NIH NeuroBioBank, 3 Feb 2021, In: Neuron. 109, 3, p. 448-460.e4

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

  7. 2020

  8. The circadian clock regulates RPE-mediated lactate transport via SLC16A1 (MCT1)

    Milićević, N., Ten Brink, J. B., Ten Asbroek, A. L. M. A., Bergen, A. A. & Felder-Schmittbuhl, M-P., Jan 2020, In: Experimental eye research. 190, p. 107861 107861.

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

  9. 2019

  10. Does the circadian clock make RPE-mediated ion transport “tick” via SLC12A2 (NKCC1)?

    Milićević, N., Duursma, A., ten Asbroek, A. L. M. A., Felder-Schmittbuhl, M-P. & Bergen, A. A., Nov 2019, In: Chronobiology international. 36, 11, p. 1592-1598

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

  11. 2018

  12. 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., Gkazi, A. S., Miller, J., Wong, C. H., Vance, C., Baas, F., ten Asbroek, A. L. M. A., 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, R. H., Silani, V., Landers, J. E. & Shaw, C. E., 2018, In: Neurobiology of aging. 71, p. 266.e1-266.e10

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

  13. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

    SLAGEN Consortium, 2018, In: Neuron. 97, 6, p. 1268-1283.e6

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

  14. 2017

  15. 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., 2017, In: Science translational medicine. 9, 388, p. eaad9157

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

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