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Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism.
Quadri M, Fang M, Picillo M, Olgiati S, Breedveld GJ, Graafland J, Wu B, Xu F, Erro R, Amboni M, Pappatà S, Quarantelli M, Annesi G, Quattrone A, Chien HF, Barbosa ER; International Parkinsonism Genetics Network; Oostra BA, Barone P, Wang J, Bonifati V. Quadri M, et al. Among authors: pappata s. Hum Mutat. 2013 Sep;34(9):1208-15. doi: 10.1002/humu.22373. Epub 2013 Aug 6. Hum Mutat. 2013. PMID: 23804577
PARK20 caused by SYNJ1 homozygous Arg258Gln mutation in a new Italian family.
Olgiati S, De Rosa A, Quadri M, Criscuolo C, Breedveld GJ, Picillo M, Pappatà S, Quarantelli M, Barone P, De Michele G, Bonifati V. Olgiati S, et al. Among authors: pappata s. Neurogenetics. 2014 Aug;15(3):183-8. doi: 10.1007/s10048-014-0406-0. Epub 2014 May 10. Neurogenetics. 2014. PMID: 24816432
Non-motor symptoms and cardiac innervation in SYNJ1-related parkinsonism.
De Rosa A, Pellegrino T, Pappatà S, Lieto M, Bonifati V, Palma V, Topa A, Santoro L, Bilo L, Cuocolo A, De Michele G. De Rosa A, et al. Among authors: pappata s. Parkinsonism Relat Disord. 2016 Feb;23:102-5. doi: 10.1016/j.parkreldis.2015.12.006. Epub 2015 Dec 18. Parkinsonism Relat Disord. 2016. PMID: 26725142
Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability.
Santoro L, Breedveld GJ, Manganelli F, Iodice R, Pisciotta C, Nolano M, Punzo F, Quarantelli M, Pappatà S, Di Fonzo A, Oostra BA, Bonifati V. Santoro L, et al. Among authors: pappata s. Neurogenetics. 2011 Feb;12(1):33-9. doi: 10.1007/s10048-010-0259-0. Epub 2010 Sep 21. Neurogenetics. 2011. PMID: 20853184 Free PMC article.
Anxiety is associated with striatal dopamine transporter availability in newly diagnosed untreated Parkinson's disease patients.
Erro R, Pappatà S, Amboni M, Vicidomini C, Longo K, Santangelo G, Picillo M, Vitale C, Moccia M, Giordano F, Brunetti A, Pellecchia MT, Salvatore M, Barone P. Erro R, et al. Among authors: pappata s. Parkinsonism Relat Disord. 2012 Nov;18(9):1034-8. doi: 10.1016/j.parkreldis.2012.05.022. Epub 2012 Jul 11. Parkinsonism Relat Disord. 2012. PMID: 22789824
150 results