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Long-term miR-669a therapy alleviates chronic dilated cardiomyopathy in dystrophic mice.
Quattrocelli M, Crippa S, Montecchiani C, Camps J, Cornaglia AI, Boldrin L, Morgan J, Calligaro A, Casasco A, Orlacchio A, Gijsbers R, D'Hooge J, Toelen J, Janssens S, Sampaolesi M. Quattrocelli M, et al. Among authors: montecchiani c. J Am Heart Assoc. 2013 Aug 20;2(4):e000284. doi: 10.1161/JAHA.113.000284. J Am Heart Assoc. 2013. PMID: 23963759 Free PMC article.
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. Brain. 2016 Jan;139(Pt 1):73-85. doi: 10.1093/brain/awv320. Epub 2015 Nov 10. Brain. 2016. PMID: 26556829 Free PMC article.
Phenotype variability and allelic heterogeneity in KMT2B-Associated disease.
Kawarai T, Miyamoto R, Nakagawa E, Koichihara R, Sakamoto T, Mure H, Morigaki R, Koizumi H, Oki R, Montecchiani C, Caltagirone C, Orlacchio A, Hattori A, Mashimo H, Izumi Y, Mezaki T, Kumada S, Taniguchi M, Yokochi F, Saitoh S, Goto S, Kaji R. Kawarai T, et al. Among authors: montecchiani c. Parkinsonism Relat Disord. 2018 Jul;52:55-61. doi: 10.1016/j.parkreldis.2018.03.022. Epub 2018 Apr 5. Parkinsonism Relat Disord. 2018. PMID: 29653907
SPG11-related parkinsonism: Clinical profile, molecular imaging and l-dopa response.
Faber I, Martinez ARM, Martins CR Jr, Maia ML, Souza JP, Lourenço CM, Marques W Jr, Montecchiani C, Orlacchio A, Pedroso JL, Barsottini OGP, Ramos CD, Lopes-Cendes Í, Friedman JH, Amorim BJ, França MC Jr. Faber I, et al. Among authors: montecchiani c. Mov Disord. 2018 Oct;33(10):1650-1656. doi: 10.1002/mds.27491. Epub 2018 Oct 10. Mov Disord. 2018. PMID: 30306626
SPG11 mutations cause widespread white matter and basal ganglia abnormalities, but restricted cortical damage.
Faber I, Martinez ARM, de Rezende TJR, Martins CR Jr, Martins MP, Lourenço CM, Marques W Jr, Montecchiani C, Orlacchio A, Pedroso JL, Barsottini OGP, Lopes-Cendes Í, França MC Jr. Faber I, et al. Among authors: montecchiani c. Neuroimage Clin. 2018 Jun 9;19:848-857. doi: 10.1016/j.nicl.2018.05.031. eCollection 2018. Neuroimage Clin. 2018. PMID: 29946510 Free PMC article.