1984 …2019

Research output per year

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Research Output

Adult diagnosis of Cockayne syndrome

Cocco, A., Calandrella, D., Carecchio, M., Garavaglia, B. & Albanese, A., Nov 5 2019, In : Neurology. 93, 19, p. 854-855 2 p.

Research output: Contribution to journalArticle

Open Access

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

SYNAPS Study Group, 2019, In : Brain. 142, 10, p. 2948-2964 17 p.

Research output: Contribution to journalArticle

  • Corrigendum to “Restless legs syndrome in NKX2-1-related chorea: An expansion of the disease spectrum” [Brain Dev. 41 (2019) 250–256] (Brain and Development (2019) 41(3) (250–256), (S0387760418304959), (10.1016/j.braindev.2018.10.001))

    Iodice, A., Carecchio, M., Zorzi, G., Garavaglia, B., Spagnoli, C., Salerno, G. G., Frattini, D., Mencacci, N. E., Invernizzi, F., Veneziano, L., Mantuano, E., Angriman, M. & Fusco, C., Jan 1 2019, In : Brain and Development.

    Research output: Contribution to journalComment/debate

    Open Access
  • Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study

    Carecchio, M., Invernizzi, F., Gonzàlez-Latapi, P., Panteghini, C., Zorzi, G., Romito, L., Leuzzi, V., Galosi, S., Reale, C., Zibordi, F., Joseph, A. P., Topf, M., Piano, C., Bentivoglio, A. R., Girotti, F., Morana, P., Morana, B., Kurian, M. A., Garavaglia, B., Mencacci, N. E. & 2 others, Lubbe, S. J. & Nardocci, N., Oct 1 2019, In : Movement Disorders. 34, 10, p. 1516-1527 12 p.

    Research output: Contribution to journalArticle

  • Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review

    Garau, J., Cavallera, V., Valente, M., Tonduti, D., Sproviero, D., Zucca, S., Battaglia, D., Battini, R., Bertini, E., Cappanera, S., Chiapparini, L., Crasà, C., Crichiutti, G., Dalla Giustina, E., D'Arrigo, S., De Giorgis, V., De Simone, M., Galli, J., La Piana, R., Messana, T. & 19 others, Moroni, I., Nardocci, N., Panteghini, C., Parazzini, C., Pichiecchio, A., Pini, A., Ricci, F., Saletti, V., Salvatici, E., Santorelli, F. M., Sartori, S., Tinelli, F., Uggetti, C., Veneselli, E., Zorzi, G., Garavaglia, B., Fazzi, E., Orcesi, S. & Cereda, C., May 26 2019, In : Journal of Clinical Medicine. 8, 5

    Research output: Contribution to journalArticle