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Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease.
Quadri M, Federico A, Zhao T, Breedveld GJ, Battisti C, Delnooz C, Severijnen LA, Di Toro Mammarella L, Mignarri A, Monti L, Sanna A, Lu P, Punzo F, Cossu G, Willemsen R, Rasi F, Oostra BA, van de Warrenburg BP, Bonifati V. Quadri M, et al. Am J Hum Genet. 2012 Mar 9;90(3):467-77. doi: 10.1016/j.ajhg.2012.01.017. Epub 2012 Feb 16. Am J Hum Genet. 2012. PMID: 22341971 Free PMC article.
Analysis of LRRK2, SNCA, Parkin, PINK1, and DJ-1 in Zambian patients with Parkinson's disease.
Yonova-Doing E, Atadzhanov M, Quadri M, Kelly P, Shawa N, Musonda ST, Simons EJ, Breedveld GJ, Oostra BA, Bonifati V. Yonova-Doing E, et al. Parkinsonism Relat Disord. 2012 Jun;18(5):567-71. doi: 10.1016/j.parkreldis.2012.02.018. Epub 2012 Mar 24. Parkinsonism Relat Disord. 2012. PMID: 22445250
Comprehensive LRRK2 and GBA screening in Portuguese patients with Parkinson's disease: identification of a new family with the LRRK2 p.Arg1441His mutation and novel missense variants.
Zhang L, Quadri M, Guedes LC, Coelho M, Valadas A, Mestre T, Lobo PP, Rosa MM, Simons E, Oostra BA, Ferreira JJ, Bonifati V. Zhang L, et al. Parkinsonism Relat Disord. 2013 Oct;19(10):897-900. doi: 10.1016/j.parkreldis.2013.05.003. Epub 2013 May 28. Parkinsonism Relat Disord. 2013. PMID: 23726462
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. 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. Neurogenetics. 2014 Aug;15(3):183-8. doi: 10.1007/s10048-014-0406-0. Epub 2014 May 10. Neurogenetics. 2014. PMID: 24816432
An exome study of Parkinson's disease in Sardinia, a Mediterranean genetic isolate.
Quadri M, Yang X, Cossu G, Olgiati S, Saddi VM, Breedveld GJ, Ouyang L, Hu J, Xu N, Graafland J, Ricchi V, Murgia D, Guedes LC, Mariani C, Marti MJ, Tarantino P, Asselta R, Valldeoriola F, Gagliardi M, Pezzoli G, Ezquerra M, Quattrone A, Ferreira J, Annesi G, Goldwurm S, Tolosa E, Oostra BA, Melis M, Wang J, Bonifati V. Quadri M, et al. Neurogenetics. 2015 Jan;16(1):55-64. doi: 10.1007/s10048-014-0425-x. Epub 2014 Oct 8. Neurogenetics. 2015. PMID: 25294124
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