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Page 1
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. Among authors: toni v. Eur J Hum Genet. 2006 Mar;14(3):322-31. doi: 10.1038/sj.ejhg.5201539. Eur J Hum Genet. 2006. PMID: 16333314
GIGYF2 mutations are not a frequent cause of familial Parkinson's disease.
Di Fonzo A, Fabrizio E, Thomas A, Fincati E, Marconi R, Tinazzi M, Breedveld GJ, Simons EJ, Chien HF, Ferreira JJ, Horstink MW, Abbruzzese G, Borroni B, Cossu G, Dalla Libera A, Fabbrini G, Guidi M, De Mari M, Lopiano L, Martignoni E, Marini P, Onofrj M, Padovani A, Stocchi F, Toni V, Sampaio C, Barbosa ER, Meco G; Italian Parkinson Genetics Network; Oostra BA, Bonifati V. Di Fonzo A, et al. Among authors: toni v. Parkinsonism Relat Disord. 2009 Nov;15(9):703-5. doi: 10.1016/j.parkreldis.2009.05.001. Epub 2009 May 31. Parkinsonism Relat Disord. 2009. PMID: 19482505
Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes.
Bonifati V, Rohé CF, Breedveld GJ, Fabrizio E, De Mari M, Tassorelli C, Tavella A, Marconi R, Nicholl DJ, Chien HF, Fincati E, Abbruzzese G, Marini P, De Gaetano A, Horstink MW, Maat-Kievit JA, Sampaio C, Antonini A, Stocchi F, Montagna P, Toni V, Guidi M, Dalla Libera A, Tinazzi M, De Pandis F, Fabbrini G, Goldwurm S, de Klein A, Barbosa E, Lopiano L, Martignoni E, Lamberti P, Vanacore N, Meco G, Oostra BA; Italian Parkinson Genetics Network. Bonifati V, et al. Among authors: toni v. Neurology. 2005 Jul 12;65(1):87-95. doi: 10.1212/01.wnl.0000167546.39375.82. Neurology. 2005. PMID: 16009891
Mutations in TMEM230 are not a common cause of Parkinson's disease.
Quadri M, Breedveld GJ, Chang HC, Yeh TH, Guedes LC, Toni V, Fabrizio E, De Mari M, Thomas A, Tassorelli C, Rood JP, Saddi V, Chien HF, Kievit AJ, Boon AJ, Stocchi F, Lopiano L, Abbruzzese G, Cortelli P, Meco G, Cossu G, Barbosa ER, Ferreira JJ; International Parkinsonism Genetics Network; Lu CS, Bonifati V. Quadri M, et al. Among authors: toni v. Mov Disord. 2017 Feb;32(2):302-304. doi: 10.1002/mds.26900. Epub 2017 Jan 16. Mov Disord. 2017. PMID: 28090676 No abstract available.
The progression of non-motor symptoms in Parkinson's disease and their contribution to motor disability and quality of life.
Antonini A, Barone P, Marconi R, Morgante L, Zappulla S, Pontieri FE, Ramat S, Ceravolo MG, Meco G, Cicarelli G, Pederzoli M, Manfredi M, Ceravolo R, Mucchiut M, Volpe G, Abbruzzese G, Bottacchi E, Bartolomei L, Ciacci G, Cannas A, Randisi MG, Petrone A, Baratti M, Toni V, Cossu G, Del Dotto P, Bentivoglio AR, Abrignani M, Scala R, Pennisi F, Quatrale R, Gaglio RM, Nicoletti A, Perini M, Avarello T, Pisani A, Scaglioni A, Martinelli PE, Iemolo F, Ferigo L, Simone P, Soliveri P, Troianiello B, Consoli D, Mauro A, Lopiano L, Nastasi G, Colosimo C. Antonini A, et al. Among authors: toni v. J Neurol. 2012 Dec;259(12):2621-31. doi: 10.1007/s00415-012-6557-8. Epub 2012 Jun 19. J Neurol. 2012. PMID: 22711157
Non-motor symptoms in atypical and secondary parkinsonism: the PRIAMO study.
Colosimo C, Morgante L, Antonini A, Barone P, Avarello TP, Bottacchi E, Cannas A, Ceravolo MG, Ceravolo R, Cicarelli G, Gaglio RM, Giglia L, Iemolo F, Manfredi M, Meco G, Nicoletti A, Pederzoli M, Petrone A, Pisani A, Pontieri FE, Quatrale R, Ramat S, Scala R, Volpe G, Zappulla S, Bentivoglio AR, Stocchi F, Trianni G, Del Dotto P, Simoni L, Marconi R; PRIAMO STUDY GROUP. Colosimo C, et al. J Neurol. 2010 Jan;257(1):5-14. doi: 10.1007/s00415-009-5255-7. Epub 2009 Aug 9. J Neurol. 2010. PMID: 19669613
PTPA variants and impaired PP2A activity in early-onset parkinsonism with intellectual disability.
Fevga C, Tesson C, Carreras Mascaro A, Courtin T, van Coller R, Sakka S, Ferraro F, Farhat N, Bardien S, Damak M, Carr J, Ferrien M, Boumeester V, Hundscheid J, Grillenzoni N, Kessissoglou IA, Kuipers DJS, Quadri M; French and Mediterranean Parkinson disease Genetics Study Group; International Parkinsonism Genetics Network; Corvol JC, Mhiri C, Hassan BA, Breedveld GJ, Lesage S, Mandemakers W, Brice A, Bonifati V. Fevga C, et al. Brain. 2023 Apr 19;146(4):1496-1510. doi: 10.1093/brain/awac326. Brain. 2023. PMID: 36073231 Free PMC article.
20 results