20182019

Research output per year

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Research Output

Gene expression profile in patients with Gaucher disease indicates activation of inflammatory processes

Ługowska, A., Hetmańczyk-Sawicka, K., Iwanicka-Nowicka, R., Fogtman, A., Cieśla, J., Purzycka-Olewiecka, J. K., Sitarska, D., Płoski, R., Filocamo, M., Lualdi, S., Bednarska-Makaruk, M. & Koblowska, M., Apr 15 2019, In : Scientific Reports. 9, 1, p. 6060

Research output: Contribution to journalArticle

  • Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study

    Zanetti, A., D'Avanzo, F., Rigon, L., Rampazzo, A., Concolino, D., Barone, R., Volpi, N., Santoro, L., Lualdi, S., Bertola, F., Scarpa, M. & Tomanin, R., May 2019, In : European Journal of Pediatrics. 178, 5, p. 739-753 15 p.

    Research output: Contribution to journalArticle

  • FGF signaling deregulation is associated with early developmental skeletal defects in animal models for mucopolysaccharidosis type II (MPSII)

    Bellesso, S., Salvalaio, M., Lualdi, S., Tognon, E., Costa, R., Braghetta, P., Giraudo, C., Stramare, R., Rigon, L., Filocamo, M., Tomanin, R. & Moro, E., Jul 1 2018, In : Human Molecular Genetics. 27, 13, p. 2262-2275 14 p.

    Research output: Contribution to journalArticle

  • Unusual white matter involvement in EAST syndrome associated with novel KCNJ10 mutations

    Severino, M., Lualdi, S., Fiorillo, C., Striano, P., De Toni, T., Peluso, S., De Michele, G., Rossi, A., Filocamo, M. & Bruno, C., Jun 1 2018, In : Journal of Neurology. 265, 6, p. 1419-1425 7 p.

    Research output: Contribution to journalArticle