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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: graafland j. Hum Mutat. 2013 Sep;34(9):1208-15. doi: 10.1002/humu.22373. Epub 2013 Aug 6. Hum Mutat. 2013. PMID: 23804577
DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease.
Olgiati S, Quadri M, Fang M, Rood JP, Saute JA, Chien HF, Bouwkamp CG, Graafland J, Minneboo M, Breedveld GJ, Zhang J; International Parkinsonism Genetics Network; Verheijen FW, Boon AJ, Kievit AJ, Jardim LB, Mandemakers W, Barbosa ER, Rieder CR, Leenders KL, Wang J, Bonifati V. Olgiati S, et al. Among authors: graafland j. Ann Neurol. 2016 Feb;79(2):244-56. doi: 10.1002/ana.24553. Epub 2016 Jan 14. Ann Neurol. 2016. PMID: 26528954
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. Among authors: graafland j. Neurogenetics. 2015 Jan;16(1):55-64. doi: 10.1007/s10048-014-0425-x. Epub 2014 Oct 8. Neurogenetics. 2015. PMID: 25294124
Manganese transport disorder: novel SLC30A10 mutations and early phenotypes.
Quadri M, Kamate M, Sharma S, Olgiati S, Graafland J, Breedveld GJ, Kori I, Hattiholi V, Jain P, Aneja S, Kumar A, Gulati P, Goel M, Talukdar B, Bonifati V. Quadri M, et al. Among authors: graafland j. Mov Disord. 2015 Jun;30(7):996-1001. doi: 10.1002/mds.26202. Epub 2015 Mar 17. Mov Disord. 2015. PMID: 25778823
Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency.
Olgiati S, Skorvanek M, Quadri M, Minneboo M, Graafland J, Breedveld GJ, Bonte R, Ozgur Z, van den Hout MC, Schoonderwoerd K, Verheijen FW, van IJcken WF, Chien HF, Barbosa ER, Chang HC, Lai SC, Yeh TH, Lu CS, Wu-Chou YH, Kievit AJ, Han V, Gdovinova Z, Jech R, Hofstra RM, Ruijter GJ, Mandemakers W, Bonifati V. Olgiati S, et al. Among authors: graafland j. Mov Disord. 2016 Jul;31(7):1041-8. doi: 10.1002/mds.26610. Epub 2016 Apr 19. Mov Disord. 2016. PMID: 27090768
The p.Thr11Met mutation in c19orf12 is frequent among adult Turkish patients with MPAN.
Olgiati S, Doğu O, Tufekcioglu Z, Diler Y, Saka E, Gultekin M, Kaleagasi H, Kuipers D, Graafland J, Breedveld GJ, Quadri M, Sürmeli R, Sünter G, Doğan T, Yalçın AD, Bilgiç B, Elibol B, Emre M, Hanagasi HA, Bonifati V. Olgiati S, et al. Among authors: graafland j. Parkinsonism Relat Disord. 2017 Jun;39:64-70. doi: 10.1016/j.parkreldis.2017.03.012. Epub 2017 Mar 21. Parkinsonism Relat Disord. 2017. PMID: 28347615