20012019

Research output per year

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Research Output

Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy

Verrigni, D., Di Nottia, M., Ardissone, A., Baruffini, E., Nasca, A., Legati, A., Bellacchio, E., Fagiolari, G., Martinelli, D., Fusco, L., Battaglia, D., Trani, G., Versienti, G., Marchet, S., Torraco, A., Rizza, T., Verardo, M., D'Amico, A., Diodato, D., Moroni, I. & 7 others, Lamperti, C., Petrini, S., Moggio, M., Goffrini, P., Ghezzi, D., Carrozzo, R. & Bertini, E., May 1 2019, In : Human Mutation. 40, 5, p. 601-618 18 p.

Research output: Contribution to journalArticle

  • Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy

    Verrigni, D., Di Nottia, M., Ardissone, A., Baruffini, E., Nasca, A., Legati, A., Bellacchio, E., Fagiolari, G., Martinelli, D., Fusco, L., Battaglia, D., Trani, G., Versienti, G., Marchet, S., Torraco, A., Rizza, T., Verardo, M., D'Amico, A., Diodato, D., Moroni, I. & 7 others, Lamperti, C., Petrini, S., Moggio, M., Goffrini, P., Ghezzi, D., Carrozzo, R. & Bertini, E., May 2019, In : Human Mutation. 40, 5, p. 601-618 18 p.

    Research output: Contribution to journalArticle

  • Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration

    Muto, V., Flex, E., Kupchinsky, Z., Primiano, G., Galehdari, H., Dehghani, M., Cecchetti, S., Carpentieri, G., Rizza, T., Mazaheri, N., Sedaghat, A., Vahidi Mehrjardi, M. Y., Traversa, A., Di Nottia, M., Kousi, M. M., Jamshidi, Y., Ciolfi, A., Caputo, V., Malamiri, R. A., Pantaleoni, F. & 11 others, Martinelli, S., Jeffries, A. R., Zeighami, J., Sherafat, A., Di Giuda, D., Shariati, G. R., Carrozzo, R., Katsanis, N., Maroofian, R., Servidei, S. & Tartaglia, M., Jul 24 2018, In : Neurology. 91, 4, p. e319-e330

    Research output: Contribution to journalArticle

  • Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy

    Sferra, A., Fattori, F., Rizza, T., Flex, E., Bellacchio, E., Bruselles, A., Petrini, S., Cecchetti, S., Teson, M., Restaldi, F., Ciolfi, A., Santorelli, F. M., Zanni, G., Barresi, S., Castiglioni, C., Tartaglia, M. & Bertini, E., Jun 1 2018, In : Human Molecular Genetics. 27, 11, p. 1892-1904 13 p.

    Research output: Contribution to journalArticle

  • ISCA1 Mutation In A Patient With Infantile-Onset Leukodystrophy Causes Defects In Mitochondrial [4Fe-4S] Proteins

    Torraco, A., Stehling, O., Stümpfig, C., Rösser, R., De Rasmo, D., Fiermonte, G., Verrigni, D., Rizza, T., Vozza, A., Di Nottia, M., Diodato, D., Martinelli, D., Piemonte, F., Dionisi-Vici, C., Bertini, E., Lill, R. & Carrozzo, R., Aug 1 2018, In : Human Molecular Genetics. p. 2739–2754 16 p.

    Research output: Contribution to journalArticle