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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: di fonzo a. Brain Commun. 2022 Oct 26;4(6):fcac276. doi: 10.1093/braincomms/fcac276. eCollection 2022. Brain Commun. 2022. PMID: 36483457 Free PMC article.
Mutational analysis of COQ2 in patients with MSA in Italy.
Ronchi D, Di Biase E, Franco G, Melzi V, Del Sorbo F, Elia A, Barzaghi C, Garavaglia B, Bergamini C, Fato R, Mora G, Del Bo R, Fortunato F, Borellini L, Trezzi I, Compagnoni GM, Monfrini E, Frattini E, Bonato S, Cogiamanian F, Ardolino G, Priori A, Bresolin N, Corti S, Comi GP, Di Fonzo A. Ronchi D, et al. Among authors: di fonzo a, di biase e. Neurobiol Aging. 2016 Sep;45:213.e1-213.e2. doi: 10.1016/j.neurobiolaging.2016.05.022. Epub 2016 Jun 7. Neurobiol Aging. 2016. PMID: 27394078
X-linked Parkinsonism with Intellectual Disability caused by novel mutations and somatic mosaicism in RAB39B gene.
Ciammola A, Carrera P, Di Fonzo A, Sassone J, Villa R, Poletti B, Ferrari M, Girotti F, Monfrini E, Buongarzone G, Silani V, Cinnante CM, Mignogna ML, D'Adamo P, Bonati MT. Ciammola A, et al. Among authors: di fonzo a. Parkinsonism Relat Disord. 2017 Nov;44:142-146. doi: 10.1016/j.parkreldis.2017.08.021. Epub 2017 Aug 26. Parkinsonism Relat Disord. 2017. PMID: 28851564
Mitochondrial dysfunction in fibroblasts of Multiple System Atrophy.
Monzio Compagnoni G, Kleiner G, Bordoni A, Fortunato F, Ronchi D, Salani S, Guida M, Corti C, Pichler I, Bergamini C, Fato R, Pellecchia MT, Vallelunga A, Del Sorbo F, Elia A, Reale C, Garavaglia B, Mora G, Albanese A, Cogiamanian F, Ardolino G, Bresolin N, Corti S, Comi GP, Quinzii CM, Di Fonzo A. Monzio Compagnoni G, et al. Among authors: di fonzo a. Biochim Biophys Acta Mol Basis Dis. 2018 Dec;1864(12):3588-3597. doi: 10.1016/j.bbadis.2018.09.018. Epub 2018 Sep 19. Biochim Biophys Acta Mol Basis Dis. 2018. PMID: 30254015 Free article.
Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathy.
Monfrini E, Straniero L, Bonato S, Monzio Compagnoni G, Bordoni A, Dilena R, Rinchetti P, Silipigni R, Ronchi D, Corti S, Comi GP, Bresolin N, Duga S, Di Fonzo A. Monfrini E, et al. Among authors: di fonzo a. Parkinsonism Relat Disord. 2019 Jun;63:66-72. doi: 10.1016/j.parkreldis.2019.02.045. Epub 2019 Mar 1. Parkinsonism Relat Disord. 2019. PMID: 30850329 Free article.
Validation of the Italian version of carers' quality-of-life questionnaire for parkinsonism (PQoL Carer) in progressive supranuclear palsy.
Picillo M, Cuoco S, Amboni M, Bonifacio FP, Bruno A, Bruschi F, Cappiello A, De Micco R, De Rosa A, Di Biasio F, Elifani F, Erro R, Fabbri M, Falla M, Franco G, Frosini D, Galantucci S, Lazzeri G, Magistrelli L, Malaguti MC, Milner AV, Minafra B, Olivola E, Pilotto A, Rascunà C, Rizzetti MC, Schirinzi T, Borroni B, Ceravolo R, Di Fonzo A, Lopiano L, Marchese R, Mercuri NB, Modugno N, Nicoletti A, Padovani A, Santangelo G, Stefani A, Tessitore A, Volontè MA, Zangaglia R, Zappia M, Barone P. Picillo M, et al. Among authors: di biasio f, di fonzo a. Neurol Sci. 2019 Oct;40(10):2163-2169. doi: 10.1007/s10072-019-03944-x. Epub 2019 Jun 12. Neurol Sci. 2019. PMID: 31190253
184 results