• 11055 Citations
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1978 …2019
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Research Output 1978 2019

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Letter
2016
2 Citations (Scopus)

Cerebral microbleeds: A new presenting feature of chromosome 22q11.2 deletion syndrome

Bonati, M. T., Vanelli, C., Sangalli, D., Sina, C., Giardino, D., Sassone, J., Girotti, F., Silani, V. & Ciammola, A., Sep 15 2016, In : Journal of the Neurological Sciences. 368, p. 300-303 4 p.

Research output: Contribution to journalLetter

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Kenna, K. P., van Doormaal, P. T. C., Dekker, A. M., Ticozzi, N., Kenna, B. J., Diekstra, F. P., Van Rheenen, W., van Eijk, K. R., Jones, A., Keagle, P. J., Shatunov, A., Sproviero, W., Smith, B. N., van Es, M. A., Topp, S., Kenna, A., Miller, J., Fallini, C., Tiloca, C., McLaughlin, R. L. & 61 others, Vance, C., Troakes, C., Colombrita, C., Mora, G., Calvo, A., Verde, F., Al-Sarraj, S., King, A., Calini, D., De Belleroche, J., Baas, F., Van Der Kooi, A. J., De Visser, M., ten Asbroek, A. L. M. A., Sapp, P. C., McKenna-Yasek, D., Polak, M., Asress, S., Muñoz-Blanco, J. L., Strom, T. M., Meitinger, T., Morrison, K. E., Lauria, G., Lauria, G., Leigh, P. N., Nicholson, G. A., Blair, I. P., Leblond, C. S., Dion, P. A., Rouleau, G. A., Pall, H., Shaw, P. J., Turner, M. R., Talbot, K., Taroni, F., Taroni, F., Van Blitterswijk, M., Rademakers, R., Esteban-Pérez, J., Garcia Redondo, A., van Damme, P., Robberecht, W., Chiò, A., Gellera, C., Gellera, C., Sendtner, M., Ratti, A., Ratti, A., Mora, J. S., Basak, N. A., Hardiman, O., Ludolph, A. C., Andersen, P. M., Weishaupt, J. H., Brown, R. H., Al-Chalabi, A., Silani, V., Silani, V., Van Den Berg, L. H., Veldink, J. & Landers, J., 2016, In : Nature Genetics.

Research output: Contribution to journalLetter

Amyotrophic Lateral Sclerosis
Exome
Cilia
Microtubules
Netherlands