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Page 1
Genotype-Phenotype Relations for the Atypical Parkinsonism Genes: MDSGene Systematic Review.
Wittke C, Petkovic S, Dobricic V, Schaake S; MDS‐endorsed PSP Study Group; Respondek G, Weissbach A, Madoev H, Trinh J, Vollstedt EJ, Kuhnke N, Lohmann K, Dulovic Mahlow M, Marras C, König IR, Stamelou M, Bonifati V, Lill CM, Kasten M, Huppertz HJ, Höglinger G, Klein C. Wittke C, et al. Among authors: trinh j. Mov Disord. 2021 Jul;36(7):1499-1510. doi: 10.1002/mds.28517. Epub 2021 Mar 19. Mov Disord. 2021. PMID: 34396589 Free PMC article.
STX6 rs1411478 is not associated with increased risk of Parkinson's disease.
Trinh J, Vilariño-Güell C, Donald A, Shah B, Yu I, Szu-Tu C, Aasly JO, Wu RM, Hentati F, Rajput AH, Rajput A, Farrer MJ. Trinh J, et al. Parkinsonism Relat Disord. 2013 May;19(5):563-5. doi: 10.1016/j.parkreldis.2013.01.019. Epub 2013 Feb 14. Parkinsonism Relat Disord. 2013. PMID: 23415606
Alpha-synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease.
Appel-Cresswell S, Vilarino-Guell C, Encarnacion M, Sherman H, Yu I, Shah B, Weir D, Thompson C, Szu-Tu C, Trinh J, Aasly JO, Rajput A, Rajput AH, Jon Stoessl A, Farrer MJ. Appel-Cresswell S, et al. Among authors: trinh j. Mov Disord. 2013 Jun;28(6):811-3. doi: 10.1002/mds.25421. Epub 2013 Mar 1. Mov Disord. 2013. PMID: 23457019
DNAJC13 genetic variants in parkinsonism.
Gustavsson EK, Trinh J, Guella I, Vilariño-Güell C, Appel-Cresswell S, Stoessl AJ, Tsui JK, McKeown M, Rajput A, Rajput AH, Aasly JO, Farrer MJ. Gustavsson EK, et al. Among authors: trinh j. Mov Disord. 2015 Feb;30(2):273-8. doi: 10.1002/mds.26064. Epub 2014 Nov 12. Mov Disord. 2015. PMID: 25393719
Novel LRRK2 mutations in Parkinsonism.
Trinh J, Guella I, McKenzie M, Gustavsson EK, Szu-Tu C, Petersen MS, Rajput A, Rajput AH, McKeown M, Jeon BS, Aasly JO, Bardien S, Farrer MJ. Trinh J, et al. Parkinsonism Relat Disord. 2015 Sep;21(9):1119-21. doi: 10.1016/j.parkreldis.2015.07.011. Epub 2015 Jul 18. Parkinsonism Relat Disord. 2015. PMID: 26213354 No abstract available.
DCTN1 p.K56R in progressive supranuclear palsy.
Gustavsson EK, Trinh J, Guella I, Szu-Tu C, Khinda J, Lin CH, Wu RM, Stoessl J, Appel-Cresswell S, McKeown M, Rajput A, Rajput AH, Petersen MS, Jeon BS, Aasly JO, Farrer MJ. Gustavsson EK, et al. Among authors: trinh j. Parkinsonism Relat Disord. 2016 Jul;28:56-61. doi: 10.1016/j.parkreldis.2016.04.025. Epub 2016 Apr 23. Parkinsonism Relat Disord. 2016. PMID: 27132499
Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects.
Seong E, Insolera R, Dulovic M, Kamsteeg EJ, Trinh J, Brüggemann N, Sandford E, Li S, Ozel AB, Li JZ, Jewett T, Kievit AJA, Münchau A, Shakkottai V, Klein C, Collins CA, Lohmann K, van de Warrenburg BP, Burmeister M. Seong E, et al. Among authors: trinh j. Ann Neurol. 2018 Jun;83(6):1075-1088. doi: 10.1002/ana.25220. Epub 2018 Jun 30. Ann Neurol. 2018. PMID: 29604224 Free PMC article.
203 results