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Combined RNA interference and gene replacement therapy targeting MFN2 as proof of principle for the treatment of Charcot-Marie-Tooth type 2A.
Rizzo F, Bono S, Ruepp MD, Salani S, Ottoboni L, Abati E, Melzi V, Cordiglieri C, Pagliarani S, De Gioia R, Anastasia A, Taiana M, Garbellini M, Lodato S, Kunderfranco P, Cazzato D, Cartelli D, Lonati C, Bresolin N, Comi G, Nizzardo M, Corti S. Rizzo F, et al. Among authors: melzi v. Cell Mol Life Sci. 2023 Nov 25;80(12):373. doi: 10.1007/s00018-023-05018-w. Cell Mol Life Sci. 2023. PMID: 38007410 Free PMC article.
Insights into the identification of a molecular signature for amyotrophic lateral sclerosis exploiting integrated microRNA profiling of iPSC-derived motor neurons and exosomes.
Rizzuti M, Melzi V, Gagliardi D, Resnati D, Meneri M, Dioni L, Masrori P, Hersmus N, Poesen K, Locatelli M, Biella F, Silipigni R, Bollati V, Bresolin N, Comi GP, Van Damme P, Nizzardo M, Corti S. Rizzuti M, et al. Among authors: melzi v. Cell Mol Life Sci. 2022 Mar 14;79(3):189. doi: 10.1007/s00018-022-04217-1. Cell Mol Life Sci. 2022. PMID: 35286466 Free PMC article.
Synaptotagmin 13 is neuroprotective across motor neuron diseases.
Nizzardo M, Taiana M, Rizzo F, Aguila Benitez J, Nijssen J, Allodi I, Melzi V, Bresolin N, Comi GP, Hedlund E, Corti S. Nizzardo M, et al. Among authors: melzi v. Acta Neuropathol. 2020 May;139(5):837-853. doi: 10.1007/s00401-020-02133-x. Epub 2020 Feb 17. Acta Neuropathol. 2020. PMID: 32065260 Free PMC article.
A de novo C19orf12 heterozygous mutation in a patient with MPAN.
Monfrini E, Melzi V, Buongarzone G, Franco G, Ronchi D, Dilena R, Scola E, Vizziello P, Bordoni A, Bresolin N, Comi GP, Corti S, Di Fonzo A. Monfrini E, et al. Among authors: melzi v. Parkinsonism Relat Disord. 2018 Mar;48:109-111. doi: 10.1016/j.parkreldis.2017.12.025. Epub 2017 Dec 27. Parkinsonism Relat Disord. 2018. PMID: 29295770 Free article. No abstract available.
Generation of two hiPSC lines (UMILi027-A and UMILi028-A) from early and late-onset Congenital Central hypoventilation Syndrome (CCHS) patients carrying a polyalanine expansion mutation in the PHOX2B gene.
Cuadros Gamboa AL, Benfante R, Nizzardo M, Bachetti T, Pelucchi P, Melzi V, Arzilli C, Peruzzi M, Reinbold RA, Cardani S, Morrone A, Guerrini R, Zucchi I, Corti S, Ceccherini I, Piumelli R, Nassi N, Di Lascio S, Fornasari D. Cuadros Gamboa AL, et al. Among authors: melzi v. Stem Cell Res. 2022 May;61:102781. doi: 10.1016/j.scr.2022.102781. Epub 2022 Apr 7. Stem Cell Res. 2022. PMID: 35421844 Free article.
Molecular analysis of SMARD1 patient-derived cells demonstrates that nonsense-mediated mRNA decay is impaired.
Taiana M, Govoni A, Salani S, Kleinschmidt N, Galli N, Saladini M, Ghezzi SB, Melzi V, Bersani M, Del Bo R, Muehlemann O, Bertini E, Sansone V, Albamonte E, Messina S, Mari F, Cesaroni E, Porfiri L, Tiziano FD, Vita GL, Sframeli M, Bonanno C, Bresolin N, Comi G, Corti S, Nizzardo M. Taiana M, et al. Among authors: melzi v. J Neurol Neurosurg Psychiatry. 2022 Aug;93(8):908-910. doi: 10.1136/jnnp-2021-326425. Epub 2022 Jan 27. J Neurol Neurosurg Psychiatry. 2022. PMID: 35086940 Free PMC article. No abstract available.
18 results