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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. Among authors: sampaio c. Lancet. 2005 Jan 29-Feb 4;365(9457):412-5. doi: 10.1016/S0140-6736(05)17829-5. Lancet. 2005. PMID: 15680456
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: sampaio c. 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: sampaio c. 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
Neuromelanin magnetic resonance imaging of the substantia nigra in LRRK2-related Parkinson's disease.
Correia Guedes L, Reimão S, Paulino P, Nunes RG, Bouça-Machado R, Abreu D, Gonçalves N, Soares T, Fabbri M, Godinho C, Pita Lobo P, Neutel D, Quadri M, Coelho M, Rosa MM, Campos J, Outeiro TF, Sampaio C, Bonifati V, Ferreira JJ. Correia Guedes L, et al. Among authors: sampaio c. Mov Disord. 2017 Sep;32(9):1331-1333. doi: 10.1002/mds.27083. Epub 2017 Jul 7. Mov Disord. 2017. PMID: 28686310 No abstract available.
Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism.
Ross OA, Spanaki C, Griffith A, Lin CH, Kachergus J, Haugarvoll K, Latsoudis H, Plaitakis A, Ferreira JJ, Sampaio C, Bonifati V, Wu RM, Zabetian CP, Farrer MJ. Ross OA, et al. Among authors: sampaio c. Parkinsonism Relat Disord. 2009 Jul;15(6):466-7. doi: 10.1016/j.parkreldis.2008.09.001. Epub 2008 Oct 26. Parkinsonism Relat Disord. 2009. PMID: 18952485 Free PMC article.
Essential tremor.
Ferreira J, Sampaio C. Ferreira J, et al. Among authors: sampaio c. Clin Evid. 2004 Jun;(11):1674-86. Clin Evid. 2004. PMID: 15652075 Updated. Review. No abstract available.
613 results