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CRISPR/Cas9 Editing for Gaucher Disease Modelling.
Pavan E, Ormazabal M, Peruzzo P, Vaena E, Rozenfeld P, Dardis A. Pavan E, et al. Among authors: peruzzo p. Int J Mol Sci. 2020 May 5;21(9):3268. doi: 10.3390/ijms21093268. Int J Mol Sci. 2020. PMID: 32380730 Free PMC article.
Molecular Genetics of Niemann-Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants.
Dardis A, Zampieri S, Gellera C, Carrozzo R, Cattarossi S, Peruzzo P, Dariol R, Sechi A, Deodato F, Caccia C, Verrigni D, Gasperini S, Fiumara A, Fecarotta S, Carecchio M, Filosto M, Santoro L, Borroni B, Bordugo A, Brancati F, Russo CV, Di Rocco M, Toscano A, Scarpa M, Bembi B. Dardis A, et al. Among authors: peruzzo p. J Clin Med. 2020 Mar 3;9(3):679. doi: 10.3390/jcm9030679. J Clin Med. 2020. PMID: 32138288 Free PMC article.
Changes in global gene expression indicate disordered autophagy, apoptosis and inflammatory processes and downregulation of cytoskeletal signalling and neuronal development in patients with Niemann-Pick C disease.
Hetmańczyk-Sawicka K, Iwanicka-Nowicka R, Fogtman A, Cieśla J, Włodarski P, Żyżyńska-Granica B, Filocamo M, Dardis A, Peruzzo P, Bednarska-Makaruk M, Koblowska M, Ługowska A. Hetmańczyk-Sawicka K, et al. Among authors: peruzzo p. Neurogenetics. 2020 Apr;21(2):105-119. doi: 10.1007/s10048-019-00600-6. Epub 2020 Jan 11. Neurogenetics. 2020. PMID: 31927669
47 results