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Page 1
Transcriptomic characterization of tissues from patients and subsequent pathway analyses reveal biological pathways that are implicated in spastic ataxia.
Kakouri AC, Votsi C, Oulas A, Nicolaou P, Aureli M, Lunghi G, Samarani M, Compagnoni GM, Salani S, Di Fonzo A, Christophides T, Tanteles GA, Zamba-Papanicolaou E, Pantzaris M, Spyrou GM, Christodoulou K. Kakouri AC, et al. Among authors: di fonzo a. Cell Biosci. 2022 Mar 11;12(1):29. doi: 10.1186/s13578-022-00754-1. Cell Biosci. 2022. PMID: 35277195 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
Mitochondrial Dysregulation and Impaired Autophagy in iPSC-Derived Dopaminergic Neurons of Multiple System Atrophy.
Monzio Compagnoni G, Kleiner G, Samarani M, Aureli M, Faustini G, Bellucci A, Ronchi D, Bordoni A, Garbellini M, Salani S, Fortunato F, Frattini E, Abati E, Bergamini C, Fato R, Tabano S, Miozzo M, Serratto G, Passafaro M, Deleidi M, Silipigni R, Nizzardo M, Bresolin N, Comi GP, Corti S, Quinzii CM, Di Fonzo A. Monzio Compagnoni G, et al. Among authors: di fonzo a. Stem Cell Reports. 2018 Nov 13;11(5):1185-1198. doi: 10.1016/j.stemcr.2018.09.007. Epub 2018 Oct 18. Stem Cell Reports. 2018. PMID: 30344007 Free PMC article.
Dystonia-ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency.
Ronchi D, Monfrini E, Bonato S, Mancinelli V, Cinnante C, Salani S, Bordoni A, Ciscato P, Fortunato F, Villa M, Di Fonzo A, Corti S, Bresolin N, Comi GP. Ronchi D, et al. Among authors: di fonzo a. Ann Clin Transl Neurol. 2020 May;7(5):839-845. doi: 10.1002/acn3.51025. Epub 2020 Apr 24. Ann Clin Transl Neurol. 2020. PMID: 32329585 Free PMC article.
A Novel Homozygous VPS11 Variant May Cause Generalized Dystonia.
Monfrini E, Cogiamanian F, Salani S, Straniero L, Fagiolari G, Garbellini M, Carsana E, Borellini L, Biella F, Moggio M, Bresolin N, Corti S, Duga S, Comi GP, Aureli M, Di Fonzo A. Monfrini E, et al. Among authors: di fonzo a. Ann Neurol. 2021 Apr;89(4):834-839. doi: 10.1002/ana.26021. Epub 2021 Feb 2. Ann Neurol. 2021. PMID: 33452836 Free PMC article.
Role of Lysosomal Gene Variants in Modulating GBA-Associated Parkinson's Disease Risk.
Straniero L, Rimoldi V, Monfrini E, Bonvegna S, Melistaccio G, Lake J, Soldà G, Aureli M, Shankaracharya, Keagle P, Foroud T, Landers JE, Blauwendraat C, Zecchinelli A, Cilia R, Di Fonzo A, Pezzoli G, Duga S, Asselta R. Straniero L, et al. Among authors: di fonzo a. Mov Disord. 2022 Jun;37(6):1202-1210. doi: 10.1002/mds.28987. Epub 2022 Mar 9. Mov Disord. 2022. PMID: 35262230 Free PMC article.
LRRK2 kinase activity regulates GCase level and enzymatic activity differently depending on cell type in Parkinson's disease.
Kedariti M, Frattini E, Baden P, Cogo S, Civiero L, Ziviani E, Zilio G, Bertoli F, Aureli M, Kaganovich A, Cookson MR, Stefanis L, Surface M, Deleidi M, Di Fonzo A, Alcalay RN, Rideout H, Greggio E, Plotegher N. Kedariti M, et al. Among authors: di fonzo a. NPJ Parkinsons Dis. 2022 Jul 19;8(1):92. doi: 10.1038/s41531-022-00354-3. NPJ Parkinsons Dis. 2022. PMID: 35853899 Free PMC article.
β-Glucocerebrosidase Deficiency Activates an Aberrant Lysosome-Plasma Membrane Axis Responsible for the Onset of Neurodegeneration.
Lunghi G, Carsana EV, Loberto N, Cioccarelli L, Prioni S, Mauri L, Bassi R, Duga S, Straniero L, Asselta R, Soldà G, Di Fonzo A, Frattini E, Magni M, Liessi N, Armirotti A, Ferrari E, Samarani M, Aureli M. Lunghi G, et al. Among authors: di fonzo a. Cells. 2022 Jul 29;11(15):2343. doi: 10.3390/cells11152343. Cells. 2022. PMID: 35954187 Free PMC article.
185 results