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Niccolo Emanuele Mencacci

Calculated based on number of publications stored in Pure and citations from Scopus
Calculated based on number of publications stored in Pure and citations from Scopus
Calculated based on number of publications stored in Pure and citations from Scopus
20092024

Research activity per year

Personal profile

Education/Academic qualification

PhD, Brain Science, University College London

… → 2016

MD, Medicine, University of Milan

… → 2006

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Collaborations and top research areas from the last five years

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  • A GNAI1 Pathogenic Variant in a Case with GNAO1-Isolated Dystonia: A Modifier of Disease Severity?

    Monje, M. H. G., Blackburn, J. S., Kinsley, L., Krainc, D. & Mencacci, N. E., May 2024, In: Movement Disorders. 39, 5, p. 918-920 3 p.

    Research output: Contribution to journal › Letter › peer-review

    Open Access

  • Childhood-Onset Lower Limb Focal Dystonia Due to a NAA15 Variant: A Case Report

    Danti, F. R., Sarmiento, I. J. K., Moloney, P. B., Colangelo, I., Graziola, F., Garavaglia, B., Zorzi, G., Mencacci, N. E. & Lubbe, S. J., Apr 2024, In: Movement Disorders. 39, 4, p. 747-749 3 p.

    Research output: Contribution to journal › Letter › peer-review

    Open Access

  • De novo FRMD5 Missense Variants in Patients with Childhood-Onset Ataxia, Prominent Nystagmus, and Seizures

    Keller Sarmiento, I. J., Bustos, B. I., Blackburn, J., Hac, N. E. F., Ruzhnikov, M., Monroe, M., Levy, R. J., Kinsley, L., Li, M., Silani, V., Lubbe, S. J., Krainc, D. & Mencacci, N. E., Jul 2024, In: Movement Disorders. 39, 7, p. 1231-1236 6 p.

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

    Open Access

  • Dystonia in ATP Synthase Defects: Reconnecting Mitochondria and Dopamine

    Indelicato, E., Boesch, S., Mencacci, N. E., Ghezzi, D., Prokisch, H., Winkelmann, J. & Zech, M., Jan 2024, In: Movement Disorders. 39, 1, p. 29-35 7 p.

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

    Open Access
    1 Scopus citations

  • Multi-ancestry genome-wide association meta-analysis of Parkinson’s disease

    Kim, J. J., Vitale, D., Otani, D. V., Lian, M. M., Heilbron, K., Aslibekyan, S., Auton, A., Babalola, E., Bell, R. K., Bielenberg, J., Bryc, K., Bullis, E., Cannon, P., Coker, D., Partida, G. C., Dhamija, D., Das, S., Elson, S. L., Eriksson, N. & Filshtein, T. & 279 others, Fitch, A., Fletez-Brant, K., Fontanillas, P., Freyman, W., Granka, J. M., Hernandez, A., Hicks, B., Hinds, D. A., Jewett, E. M., Jiang, Y., Kukar, K., Kwong, A., Lin, K. H., Llamas, B. A., Lowe, M., McCreight, J. C., McIntyre, M. H., Micheletti, S. J., Moreno, M. E., Nandakumar, P., Nguyen, D. T., Noblin, E. S., O’Connell, J., Petrakovitz, A. A., Poznik, G. D., Reynoso, A., Schloetter, M., Schumacher, M., Shastri, A. J., Shelton, J. F., Shi, J., Shringarpure, S., Su, Q. J., Tat, S. A., Tchakouté, C. T., Tran, V., Tung, J. Y., Wang, X., Wang, W., Weldon, C. H., Wilton, P., Wong, C. D., Iwaki, H., Lake, J., Solsberg, C. W., Leonard, H., Makarious, M. B., Tan, E. K., Singleton, A. B., Bandres-Ciga, S., Noyce, A. J., Gatto, E. M., Kauffman, M., Khachatryan, S., Tavadyan, Z., Shepherd, C. E., Hunter, J., Kumar, K., Ellis, M., Rentería, M. E., Koks, S., Zimprich, A., Schumacher-Schuh, A. F., Rieder, C., Awad, P. S., Tumas, V., Camargos, S., Fon, E. A., Monchi, O., Fon, T., Galleguillos, B. P., Miranda, M., Bustamante, M. L., Olguin, P., Chana, P., Tang, B., Shang, H., Guo, J., Chan, P., Luo, W., Arboleda, G., Orozc, J., del Rio, M. J., Hernandez, A., Salama, M., Kamel, W. A., Zewde, Y. Z., Brice, A., Corvol, J. C., Westenberger, A., Illarionova, A., Mollenhauer, B., Klein, C., Vollstedt, E. J., Hopfner, F., Höglinger, G., Madoev, H., Trinh, J., Junker, J., Lohmann, K., Lange, L. M., Sharma, M., Groppa, S., Gasser, T., Fang, Z. H., Akpalu, A., Xiromerisiou, G., Hadjigorgiou, G., Dagklis, I., Tarnanas, I., Stefanis, L., Stamelou, M., Dadiotis, E., Medina, A., Chan, G. H. F., Ip, N., Cheung, N. Y. F., Chan, P., Zhou, X., Kishore, A., Divya, K. P., Pal, P., Kukkle, P. L., Rajan, R., Borgohain, R., Salari, M., Quattrone, A., Valente, E. M., Parnetti, L., Avenali, M., Schirinzi, T., Funayama, M., Hattori, N., Shiraishi, T., Karimova, A., Kaishibayeva, G., Shambetova, C., Krüger, R., Tan, A. H., Ahmad-Annuar, A., Norlinah, M. I., Murad, N. A. A., Azmin, S., Lim, S. Y., Mohamed, W., Tay, Y. W., Martinez-Ramirez, D., Rodriguez-Violante, M., Reyes-Pérez, P., Tserensodnom, B., Ojha, R., Anderson, T. J., Pitcher, T. L., Sanyaolu, A., Okubadejo, N., Ojo, O., Aasly, J. O., Pihlstrøm, L., Tan, M., Ur-Rehman, S., Veliz-Otani, D., Cornejo-Olivas, M., Doquenia, M. L., Rosales, R., Vinuela, A., Iakovenko, E., Mubarak, B. A., Umair, M., Amod, F., Carr, J., Bardien, S., Jeon, B., Kim, Y. J., Cubo, E., Alvarez, I., Hoenicka, J., Beyer, K., Periñan, M. T., Pastor, P., El-Sadig, S., Brolin, K., Zweier, C., Tinkhauser, G., Krack, P., Lin, C. H., Wu, H. C., Kung, P. J., Wu, R. M., Wu, Y., Amouri, R., Sassi, S. B., Başak, A. N., Genc, G., Çakmak, Ö. Ö., Ertan, S., Martínez-Carrasco, A., Schrag, A., Schapira, A., Carroll, C., Bale, C., Grosset, D., Stafford, E. J., Houlden, H., Morris, H. R., Hardy, J., Mok, K. Y., Rizig, M., Wood, N., Williams, N., Okunoye, O., Lewis, P. A., Kaiyrzhanov, R., Weil, R., Love, S., Stott, S., Jasaityte, S., Dey, S., Obese, V., Espay, A., O’Grady, A., Sobering, A. K., Siddiqi, B., Casey, B., Fiske, B., Jonas, C., Cruchaga, C., Pantazis, C. B., Comart, C., Wegel, C., Hall, D., Hernandez, D., Shiamim, E., Riley, E., Faghri, F., Serrano, G. E., Chen, H., Mata, I. F., Sarmiento, I. J. K., Williamson, J., Jankovic, J., Shulman, J., Solle, J. C., Murphy, K., Nuytemans, K., Kieburtz, K., Markopoulou, K., Marek, K., Levine, K. S., Chahine, L. M., Ibanez, L., Screven, L., Ruffrage, L., Shulman, L., Marsili, L., Kuhl, M., Dean, M., Koretsky, M., Puckelwartz, M. J., Inca-Martinez, M., Louie, N., Mencacci, N. E., Albin, R., Alcalay, R., Walker, R., Chowdhury, S., Dumanis, S., Lubbe, S., Xie, T., Foroud, T., Beach, T., Sherer, T., Song, Y., Nguyen, D., Nguyen, T., Atadzhanov, M., Blauwendraat, C., Nalls, M. A., Foo, J. N. & Mata, I., Jan 2024, In: Nature Genetics. 56, 1, p. 27-36 10 p.

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

    Open Access
    12 Scopus citations
View all 112 Research outputs