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Page 1
Genotype-phenotype correlation in PRKN-associated Parkinson's disease.
Menon PJ, Sambin S, Criniere-Boizet B, Courtin T, Tesson C, Casse F, Ferrien M, Mariani LL, Carvalho S, Lejeune FX, Rebbah S, Martet G, Houot M, Lanore A, Mangone G, Roze E, Vidailhet M, Aasly J, Gan Or Z, Yu E, Dauvilliers Y, Zimprich A, Tomantschger V, Pirker W, Álvarez I, Pastor P, Di Fonzo A, Bhatia KP, Magrinelli F, Houlden H, Real R, Quattrone A, Limousin P, Korlipara P, Foltynie T, Grosset D, Williams N, Narendra D, Lin HP, Jovanovic C, Svetel M, Lynch T, Gallagher A, Vandenberghe W, Gasser T, Brockmann K, Morris HR, Borsche M, Klein C, Corti O, Brice A, Lesage S, Corvol JC; French Parkinson disease Genetics Study Group (PDG). Menon PJ, et al. Among authors: di fonzo a. NPJ Parkinsons Dis. 2024 Mar 29;10(1):72. doi: 10.1038/s41531-024-00677-3. NPJ Parkinsons Dis. 2024. PMID: 38553467 Free PMC article.
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 Practical Approach to Early-Onset Parkinsonism.
Riboldi GM, Frattini E, Monfrini E, Frucht SJ, Di Fonzo A. Riboldi GM, et al. Among authors: di fonzo a. J Parkinsons Dis. 2022;12(1):1-26. doi: 10.3233/JPD-212815. J Parkinsons Dis. 2022. PMID: 34569973 Free PMC article. Review.
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.
A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease.
Di Fonzo A, Rohé CF, Ferreira J, Chien HF, Vacca L, Stocchi F, Guedes L, Fabrizio E, Manfredi M, Vanacore N, Goldwurm S, Breedveld G, Sampaio C, Meco G, Barbosa E, Oostra BA, Bonifati V; Italian Parkinson Genetics Network. Di Fonzo A, et al. Lancet. 2005 Jan 29-Feb 4;365(9457):412-5. doi: 10.1016/S0140-6736(05)17829-5. Lancet. 2005. PMID: 15680456
GBA-Related Parkinson's Disease: Dissection of Genotype-Phenotype Correlates in a Large Italian Cohort.
Petrucci S, Ginevrino M, Trezzi I, Monfrini E, Ricciardi L, Albanese A, Avenali M, Barone P, Bentivoglio AR, Bonifati V, Bove F, Bonanni L, Brusa L, Cereda C, Cossu G, Criscuolo C, Dati G, De Rosa A, Eleopra R, Fabbrini G, Fadda L, Garbellini M, Minafra B, Onofrj M, Pacchetti C, Palmieri I, Pellecchia MT, Petracca M, Picillo M, Pisani A, Vallelunga A, Zangaglia R, Di Fonzo A, Morgante F, Valente EM; ITA-GENE-PD Study Group. Petrucci S, et al. Among authors: di fonzo a. Mov Disord. 2020 Nov;35(11):2106-2111. doi: 10.1002/mds.28195. Epub 2020 Jul 13. Mov Disord. 2020. PMID: 32658388
Screening of LRP10 mutations in Parkinson's disease patients from Italy.
Manini A, Straniero L, Monfrini E, Percetti M, Vizziello M, Franco G, Rimoldi V, Zecchinelli A, Pezzoli G, Corti S, Comi GP, Duga S, Di Fonzo A. Manini A, et al. Among authors: di fonzo a. Parkinsonism Relat Disord. 2021 Aug;89:17-21. doi: 10.1016/j.parkreldis.2021.06.014. Epub 2021 Jun 19. Parkinsonism Relat Disord. 2021. PMID: 34216936
VPS13C-associated Parkinson's disease: Two novel cases and review of the literature.
Monfrini E, Spagnolo F, Canesi M, Seresini A, Rini A, Passarella B, Percetti M, Seia M, Goldwurm S, Cereda V, Comi GP, Pezzoli G, Di Fonzo A. Monfrini E, et al. Among authors: di fonzo a. Parkinsonism Relat Disord. 2022 Jan;94:37-39. doi: 10.1016/j.parkreldis.2021.11.031. Epub 2021 Dec 1. Parkinsonism Relat Disord. 2022. PMID: 34875562 Review.
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.
186 results