20172019

Research output per year

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Fingerprint Dive into the research topics where Marialetizia Motta is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

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Research Output

Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy

Motta, M., Sagi-Dain, L., Krumbach, O. H. F., Hahn, A., Peleg, A., German, A., Lissewski, C., Coppola, S., Pantaleoni, F., Kocherscheid, L., Altmüller, F., Schanze, D., Logeswaran, T., Chahrokh-Zadeh, S., Munzig, A., Nakhaei-Rad, S., Cavé, H., Ahmadian, M. R., Tartaglia, M. & Zenker, M., May 21 2019, In : Human Molecular Genetics.

Research output: Contribution to journalArticle

  • Biallelic Variants in the Nuclear Pore Complex Protein NUP93 Are Associated with Non-progressive Congenital Ataxia

    Zanni, G., De Magistris, P., Nardella, M., Bellacchio, E., Barresi, S., Sferra, A., Ciolfi, A., Motta, M., Lue, H., Moreno-Andres, D., Tartaglia, M., Bertini, E. & Antonin, W., Feb 11 2019, In : Cerebellum.

    Research output: Contribution to journalArticle

  • Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy

    Motta, M., Giancotti, A., Mastromoro, G., Chandramouli, B., Pinna, V., Pantaleoni, F., Di Giosaffatte, N., Petrini, S., Mazza, T., D’Ambrosio, V., Versacci, P., Ventriglia, F., Chillemi, G., Pizzuti, A., Tartaglia, M. & De Luca, A., 2019, In : Human Mutation. 40, 8, p. 1046-1056 11 p.

    Research output: Contribution to journalArticle

    Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy

    Motta, M., Giancotti, A., Mastromoro, G., Chandramouli, B., Pinna, V., Pantaleoni, F., Di Giosaffatte, N., Petrini, S., Mazza, T., D'Ambrosio, V., Versacci, P., Ventriglia, F., Chillemi, G., Pizzuti, A., Tartaglia, M. & De Luca, A., May 6 2019, In : Human Mutation.

    Research output: Contribution to journalArticle

  • Correction to: Biallelic Variants in the Nuclear Pore Complex Protein NUP93 Are Associated with Non-progressive Congenital Ataxia

    Zanni, G., De Magistris, P., Nardella, M., Bellacchio, E., Barresi, S., Sferra, A., Ciolfi, A., Motta, M., Lue, H., Moreno-Andres, D., Tartaglia, M., Bertini, E. & Antonin, W., Jun 2019, In : Cerebellum. 18, 3, p. 433-434 2 p.

    Research output: Contribution to journalArticle