Niccolo Emanuele Mencacci

  • Source: Scopus
20092021

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Education/Academic qualification

PhD, University College London

… → 2016

MD, University of Milan

… → 2006

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  • Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia

    Mencacci, N. E., Brockmann, M. M., Dai, J., Pajusalu, S., Atasu, B., Campos, J., Pino, G., Gonzalez-Latapi, P., Patzke, C., Schwake, M., Tucci, A., Pittman, A., Simon-Sanchez, J., Carvill, G. L., Balint, B., Wiethoff, S., Warner, T. T., Papandreou, A., Soo, A., Rein, R. & 15 others, Kadastik-Eerme, L., Puusepp, S., Reinson, K., Tomberg, T., Hanagasi, H., Gasser, T., Bhatia, K. P., Kurian, M. A., Lohmann, E., Õunap, K., Rosenmund, C., Südhof, T. C., Wood, N. W., Krainc, D. & Acuna, C., Apr 1 2021, In: Journal of Clinical Investigation. 131, 7, e140625.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Childhood-Onset Chorea Caused by a Recurrent De Novo DRD2 Variant

    Mencacci, N. E., Steel, D., Magrinelli, F., Hsu, J., Keller Sarmiento, I. J., Troncoso Schifferli, M., Muñoz, D., Stefanis, L., Lubbe, S. J., Wood, N. W., Kurian, M. A. & Stamelou, M., Jun 2021, In: Movement Disorders. 36, 6, p. 1472-1473 2 p.

    Research output: Contribution to journalLetterpeer-review

  • EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia

    Kuipers, D. J. S., Mandemakers, W., Lu, C. S., Olgiati, S., Breedveld, G. J., Fevga, C., Tadic, V., Carecchio, M., Osterman, B., Sagi-Dain, L., Wu-Chou, Y. H., Chen, C. C., Chang, H. C., Wu, S. L., Yeh, T. H., Weng, Y. H., Elia, A. E., Panteghini, C., Marotta, N., Pauly, M. G. & 14 others, Kühn, A. A., Volkmann, J., Lace, B., Meijer, I. A., Kandaswamy, K., Quadri, M., Garavaglia, B., Lohmann, K., Bauer, P., Mencacci, N. E., Lubbe, S. J., Klein, C., Bertoli-Avella, A. M. & Bonifati, V., Mar 2021, In: Annals of neurology. 89, 3, p. 485-497 13 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    4 Scopus citations
  • Investigation of Autosomal Genetic Sex Differences in Parkinson's Disease

    and the International Parkinson's Disease Genomics Consortium (IPDGC), Jul 2021, In: Annals of neurology. 90, 1, p. 35-42 8 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    2 Scopus citations
  • MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia

    Meng, L., Isohanni, P., Shao, Y., Graham, B. H., Hickey, S. E., Brooks, S., Suomalainen, A., Joset, P., Steindl, K., Rauch, A., Hackenberg, A., High, F. A., Armstrong-Javors, A., Mencacci, N. E., Gonzàlez-Latapi, P., Kamel, W. A., Al-Hashel, J. Y., Bustos, B. I., Hernandez, A. V., Krainc, D. & 25 others, Lubbe, S. J., Van Esch, H., De Luca, C., Ballon, K., Ravelli, C., Burglen, L., Qebibo, L., Calame, D. G., Mitani, T., Marafi, D., Pehlivan, D., Saadi, N. W., Sahin, Y., Maroofian, R., Efthymiou, S., Houlden, H., Maqbool, S., Rahman, F., Gu, S., Posey, J. E., Lupski, J. R., Hunter, J. V., Wangler, M. F., Carroll, C. J. & Yang, Y., Apr 2021, In: Annals of neurology. 89, 4, p. 828-833 6 p.

    Research output: Contribution to journalArticlepeer-review