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Research Output

Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking: Human molecular genetics

Behne, R., Teinert, J., Wimmer, M., D'Amore, A., Davies, A. K., Scarrott, J. M., Eberhardt, K., Brechmann, B., Chen, IP-F., Buttermore, E. D., Barrett, L., Dwyer, S., Chen, T., Hirst, J., Wiesener, A., Segal, D., Martinuzzi, A., Duarte, S. T., Bennett, J. T., Bourinaris, T. & 9 others, Houlden, H., Roubertie, A., Santorelli, F. M., Robinson, M., Azzouz, M., Lipton, J. O., Borner, G. H. H., Sahin, M. & Ebrahimi-Fakhari, D., 2020, In : Hum. Mol. Genet.. 29, 2, p. 320-334 15 p.

Research output: Contribution to journalArticle

  • Safety and Efficacy of Interferon γ in Friedreich's Ataxia

    Vavla, M., D'Angelo, M. G., Arrigoni, F., Toschi, N., Peruzzo, D., Gandossini, S., Russo, A., Diella, E., Tirelli, S., Salati, R., Scarpazza, P., Luffarelli, R., Fortuni, S., Rufini, A., Condò, I., Testi, R. & Martinuzzi, A., Jan 1 2020, (Accepted/In press) In : Movement Disorders.

    Research output: Contribution to journalLetter

    Becoming a young adult with cerebral palsy

    Pizzighello, S., Pellegri, A., Vestri, A., Sala, M., Piccoli, S., Flego, L. & Martinuzzi, A., Sep 1 2019, In : Research in Developmental Disabilities. 92, 6 p., 103450.

    Research output: Contribution to journalArticle

  • Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7

    Coarelli, G., Schule, R., van de Warrenburg, B. P. C., De Jonghe, P., Ewenczyk, C., Martinuzzi, A., Synofzik, M., Hamer, E. G., Baets, J., Anheim, M., Schöls, L., Deconinck, T., Masrori, P., Fontaine, B., Klockgether, T., D'Angelo, M. G., Monin, M. L., De Bleecker, J., Migeotte, I., Charles, P. & 16 others, Bassi, M. T., Klopstock, T., Mochel, F., Ollagnon-Roman, E., D'Hooghe, M., Kamm, C., Kurzwelly, D., Papin, M., Davoine, C. S., Banneau, G., Tezenas du Montcel, S., Seilhean, D., Brice, A., Duyckaerts, C., Stevanin, G. & Durr, A., Jun 4 2019, In : Neurology. 92, 23, p. e2679-e2690 12 p.

    Research output: Contribution to journalArticle

  • Optical Coherence Tomography in a Cohort of Genetically Defined Hereditary Spastic Paraplegia: A Brief Research Report

    Vavla, M., Paparella, G., Papayannis, A., Pascuzzo, R., Girardi, G., Pellegrini, F., Capello, G., Prosdocimo, G. & Martinuzzi, A., Nov 22 2019, In : Frontiers in Neurology. 10, 7 p., 1193.

    Research output: Contribution to journalArticle

    Open Access