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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.
The G6055A (G2019S) mutation in LRRK2 is frequent in both early and late onset Parkinson's disease and originates from a common ancestor.
Goldwurm S, Di Fonzo A, Simons EJ, Rohé CF, Zini M, Canesi M, Tesei S, Zecchinelli A, Antonini A, Mariani C, Meucci N, Sacilotto G, Sironi F, Salani G, Ferreira J, Chien HF, Fabrizio E, Vanacore N, Dalla Libera A, Stocchi F, Diroma C, Lamberti P, Sampaio C, Meco G, Barbosa E, Bertoli-Avella AM, Breedveld GJ, Oostra BA, Pezzoli G, Bonifati V. Goldwurm S, et al. Among authors: di fonzo a. J Med Genet. 2005 Nov;42(11):e65. doi: 10.1136/jmg.2005.035568. J Med Genet. 2005. PMID: 16272257 Free PMC article.
Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease.
Di Fonzo A, Tassorelli C, De Mari M, Chien HF, Ferreira J, Rohé CF, Riboldazzi G, Antonini A, Albani G, Mauro A, Marconi R, Abbruzzese G, Lopiano L, Fincati E, Guidi M, Marini P, Stocchi F, Onofrj M, Toni V, Tinazzi M, Fabbrini G, Lamberti P, Vanacore N, Meco G, Leitner P, Uitti RJ, Wszolek ZK, Gasser T, Simons EJ, Breedveld GJ, Goldwurm S, Pezzoli G, Sampaio C, Barbosa E, Martignoni E, Oostra BA, Bonifati V; Italian Parkinson's Genetics Network. Di Fonzo A, et al. Eur J Hum Genet. 2006 Mar;14(3):322-31. doi: 10.1038/sj.ejhg.5201539. Eur J Hum Genet. 2006. PMID: 16333314
LRRK2 G2019S mutation and Parkinson's disease: a clinical, neuropsychological and neuropsychiatric study in a large Italian sample.
Goldwurm S, Zini M, Di Fonzo A, De Gaspari D, Siri C, Simons EJ, van Doeselaar M, Tesei S, Antonini A, Canesi M, Zecchinelli A, Mariani C, Meucci N, Sacilotto G, Cilia R, Isaias IU, Bonetti A, Sironi F, Ricca S, Oostra BA, Bonifati V, Pezzoli G. Goldwurm S, et al. Among authors: di fonzo a. Parkinsonism Relat Disord. 2006 Oct;12(7):410-9. doi: 10.1016/j.parkreldis.2006.04.001. Epub 2006 Jun 5. Parkinsonism Relat Disord. 2006. PMID: 16750929
Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study.
Healy DG, Falchi M, O'Sullivan SS, Bonifati V, Durr A, Bressman S, Brice A, Aasly J, Zabetian CP, Goldwurm S, Ferreira JJ, Tolosa E, Kay DM, Klein C, Williams DR, Marras C, Lang AE, Wszolek ZK, Berciano J, Schapira AH, Lynch T, Bhatia KP, Gasser T, Lees AJ, Wood NW; International LRRK2 Consortium. Healy DG, et al. Lancet Neurol. 2008 Jul;7(7):583-90. doi: 10.1016/S1474-4422(08)70117-0. Epub 2008 Jun 6. Lancet Neurol. 2008. PMID: 18539534 Free PMC article.
A novel homozygous PLA2G6 mutation causes dystonia-parkinsonism.
Malaguti MC, Melzi V, Di Giacopo R, Monfrini E, Di Biase E, Franco G, Borellini L, Trezzi I, Monzio Compagnoni G, Fortis P, Feraco P, Orrico D, Cucurachi L, Donner D, Rizzuti M, Ronchi D, Bonato S, Bresolin N, Corti S, Comi GP, Di Fonzo A. Malaguti MC, et al. Among authors: di giacopo r, di fonzo a, di biase e. Parkinsonism Relat Disord. 2015 Mar;21(3):337-9. doi: 10.1016/j.parkreldis.2015.01.001. Epub 2015 Jan 10. Parkinsonism Relat Disord. 2015. PMID: 25601130 No abstract available.
Adaptive deep brain stimulation in a freely moving Parkinsonian patient.
Rosa M, Arlotti M, Ardolino G, Cogiamanian F, Marceglia S, Di Fonzo A, Cortese F, Rampini PM, Priori A. Rosa M, et al. Among authors: di fonzo a. Mov Disord. 2015 Jun;30(7):1003-5. doi: 10.1002/mds.26241. Epub 2015 May 21. Mov Disord. 2015. PMID: 25999288 Free PMC article. No abstract available.
186 results