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  1. PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins

    Hall, E. A., Nahorski, M. S., Murray, L. M., Shaheen, R., Perkins, E., Dissanayake, K. N., Kristaryanto, Y., Jones, R. A., Vogt, J., Rivagorda, M., Handley, M. T., Mali, G. R., Quidwai, T., Soares, D. C., Keighren, M. A., McKie, L., Mort, R. L., Gammoh, N., Garcia-Munoz, A., Davey, T., & 15 othersVermeren, M., Walsh, D., Budd, P., Aligianis, I. A., Faqeih, E., Quigley, A. J., Jackson, I. J., Kulathu, Y., Jackson, M., Ribchester, R. R., von Kriegsheim, A., Alkuraya, F. S., Woods, C. G., Maher, E. R. & Mill, P., 4/05/2017, In: American Journal of Human Genetics. 100, 5, p. 706-724 19 p.

    Research output: Contribution to Journal/MagazineJournal articlepeer-review