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Olgiati S, Quadri M, Mandemakers W, Bonifati V. Olgiati S, et al. Among authors: quadri m. Ann Neurol. 2016 Feb;79(2):337-8. doi: 10.1002/ana.24587. Epub 2016 Jan 19. Ann Neurol. 2016. PMID: 26702604 No abstract available.
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: quadri m. Ann Neurol. 2016 Feb;79(2):244-56. doi: 10.1002/ana.24553. Epub 2016 Jan 14. Ann Neurol. 2016. PMID: 26528954
LRP10 in α-synucleinopathies - Authors' reply.
Quadri M, Mandemakers W, Kuipers D, Breedveld GJ, Bonifati V. Quadri M, et al. Lancet Neurol. 2018 Dec;17(12):1035-1036. doi: 10.1016/S1474-4422(18)30408-3. Epub 2018 Nov 13. Lancet Neurol. 2018. PMID: 30507388 No abstract available.
EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia.
Kuipers DJS, Mandemakers W, Lu CS, Olgiati S, Breedveld GJ, Fevga C, Tadic V, Carecchio M, Osterman B, Sagi-Dain L, Wu-Chou YH, Chen CC, Chang HC, Wu SL, Yeh TH, Weng YH, Elia AE, Panteghini C, Marotta N, Pauly MG, Kühn AA, Volkmann J, Lace B, Meijer IA, Kandaswamy K, Quadri M, Garavaglia B, Lohmann K, Bauer P, Mencacci NE, Lubbe SJ, Klein C, Bertoli-Avella AM, Bonifati V. Kuipers DJS, et al. Among authors: quadri m. Ann Neurol. 2021 Mar;89(3):485-497. doi: 10.1002/ana.25973. Epub 2020 Dec 15. Ann Neurol. 2021. PMID: 33236446 Free PMC article.
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. Among authors: quadri m. Neurogenetics. 2014 Aug;15(3):183-8. doi: 10.1007/s10048-014-0406-0. Epub 2014 May 10. Neurogenetics. 2014. PMID: 24816432
A LRSAM1 mutation links Charcot-Marie-Tooth type 2 to Parkinson's disease.
Aerts MB, Weterman MA, Quadri M, Schelhaas HJ, Bloem BR, Esselink RA, Baas F, Bonifati V, van de Warrenburg BP. Aerts MB, et al. Among authors: quadri m. Ann Clin Transl Neurol. 2015 Dec 22;3(2):146-9. doi: 10.1002/acn3.281. eCollection 2016 Feb. Ann Clin Transl Neurol. 2015. PMID: 26900582 Free PMC article.
195 results