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ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.
Montecchiani C, Pedace L, Lo Giudice T, Casella A, Mearini M, Gaudiello F, Pedroso JL, Terracciano C, Caltagirone C, Massa R, St George-Hyslop PH, Barsottini OG, Kawarai T, Orlacchio A. Montecchiani C, et al. Among authors: pedace l. Brain. 2016 Jan;139(Pt 1):73-85. doi: 10.1093/brain/awv320. Epub 2015 Nov 10. Brain. 2016. PMID: 26556829 Free PMC article.
Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 Variants.
Ferilli M, Ciolfi A, Pedace L, Niceta M, Radio FC, Pizzi S, Miele E, Cappelletti C, Mancini C, Galluccio T, Andreani M, Iascone M, Chiriatti L, Novelli A, Micalizzi A, Matraxia M, Menale L, Faletra F, Prontera P, Pilotta A, Bedeschi MF, Capolino R, Baban A, Seri M, Mammì C, Zampino G, Digilio MC, Dallapiccola B, Priolo M, Tartaglia M. Ferilli M, et al. Among authors: pedace l. Genes (Basel). 2022 Nov 19;13(11):2163. doi: 10.3390/genes13112163. Genes (Basel). 2022. PMID: 36421837 Free PMC article.
MFN2 transcripts escaping from nonsense-mediated mRNA decay pathway cause Charcot-Marie-Tooth disease type 2A2.
Kawarai T, Yamasaki K, Mori A, Takamatsu N, Osaki Y, Banzrai C, Miyamoto R, Oki R, Pedace L, Orlacchio A, Nodera H, Hashiguchi A, Higuchi Y, Takashima H, Nishida Y, Izumi Y, Kaji R. Kawarai T, et al. Among authors: pedace l. J Neurol Neurosurg Psychiatry. 2016 Nov;87(11):1263-1265. doi: 10.1136/jnnp-2015-312646. Epub 2016 May 6. J Neurol Neurosurg Psychiatry. 2016. PMID: 27154191 No abstract available.
Adult-onset KMT2B-related dystonia.
Monfrini E, Ciolfi A, Cavallieri F, Ferilli M, Soliveri P, Pedace L, Erro R, Del Sorbo F, Valzania F, Fioravanti V, Cossu G, Pellegrini M, Salviati L, Invernizzi F, Oppo V, Murgia D, Giometto B, Picillo M, Garavaglia B, Morgante F, Tartaglia M, Carecchio M, Di Fonzo A. Monfrini E, et al. Among authors: pedace l. Brain Commun. 2022 Oct 26;4(6):fcac276. doi: 10.1093/braincomms/fcac276. eCollection 2022. Brain Commun. 2022. PMID: 36483457 Free PMC article.
Molecular characterization of 11 Italian patients with Darier disease.
Pedace L, Barboni L, Pozzetto E, Amantea A, Zambruno G, Preziosi N, Benedicenti F, Boni S, De Brasi D, Panetta C, Ferraro C, De Bernardo C, Castori M, Grammatico P. Pedace L, et al. Eur J Dermatol. 2011 May-Jun;21(3):334-8. doi: 10.1684/ejd.2011.1339. Eur J Dermatol. 2011. PMID: 21527373
46 results