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Page 1
Reply: Heterozygous PINK1 p.G411S in rapid eye movement sleep behaviour disorder.
Puschmann A, Fiesel FC, Caulfield TR, Hudec R, Ando M, Truban D, Hou X, Ogaki K, Heckman MG, James ED, Swanberg M, Jimenez-Ferrer I, Hansson O, Opala G, Siuda J, Boczarska-Jedynak M, Friedman A, Koziorowski D, Rudzinska-Bar M, Aasly JO, Lynch T, Mellick GD, Mohan M, Silburn PA, Sanotsky Y, Vilariño-Güell C, Farrer MJ, Chen L, Dawson VL, Dawson TM, Wszolek ZK, Ross OA, Springer W. Puschmann A, et al. Brain. 2017 Jun 1;140(6):e33. doi: 10.1093/brain/awx077. Brain. 2017. PMID: 28379295 Free PMC article. No abstract available.
Heterozygous PINK1 p.G411S increases risk of Parkinson's disease via a dominant-negative mechanism.
Puschmann A, Fiesel FC, Caulfield TR, Hudec R, Ando M, Truban D, Hou X, Ogaki K, Heckman MG, James ED, Swanberg M, Jimenez-Ferrer I, Hansson O, Opala G, Siuda J, Boczarska-Jedynak M, Friedman A, Koziorowski D, Rudzińska-Bar M, Aasly JO, Lynch T, Mellick GD, Mohan M, Silburn PA, Sanotsky Y, Vilariño-Güell C, Farrer MJ, Chen L, Dawson VL, Dawson TM, Wszolek ZK, Ross OA, Springer W. Puschmann A, et al. Brain. 2017 Jan;140(1):98-117. doi: 10.1093/brain/aww261. Epub 2016 Nov 2. Brain. 2017. PMID: 27807026 Free PMC article.
Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study.
Ross OA, Soto-Ortolaza AI, Heckman MG, Aasly JO, Abahuni N, Annesi G, Bacon JA, Bardien S, Bozi M, Brice A, Brighina L, Van Broeckhoven C, Carr J, Chartier-Harlin MC, Dardiotis E, Dickson DW, Diehl NN, Elbaz A, Ferrarese C, Ferraris A, Fiske B, Gibson JM, Gibson R, Hadjigeorgiou GM, Hattori N, Ioannidis JP, Jasinska-Myga B, Jeon BS, Kim YJ, Klein C, Kruger R, Kyratzi E, Lesage S, Lin CH, Lynch T, Maraganore DM, Mellick GD, Mutez E, Nilsson C, Opala G, Park SS, Puschmann A, Quattrone A, Sharma M, Silburn PA, Sohn YH, Stefanis L, Tadic V, Theuns J, Tomiyama H, Uitti RJ, Valente EM, van de Loo S, Vassilatis DK, Vilariño-Güell C, White LR, Wirdefeldt K, Wszolek ZK, Wu RM, Farrer MJ; Genetic Epidemiology Of Parkinson's Disease (GEO-PD) Consortium. Ross OA, et al. Lancet Neurol. 2011 Oct;10(10):898-908. doi: 10.1016/S1474-4422(11)70175-2. Epub 2011 Aug 30. Lancet Neurol. 2011. PMID: 21885347 Free PMC article.
Early-onset Parkinson's disease due to PINK1 p.Q456X mutation--clinical and functional study.
Siuda J, Jasinska-Myga B, Boczarska-Jedynak M, Opala G, Fiesel FC, Moussaud-Lamodière EL, Scarffe LA, Dawson VL, Ross OA, Springer W, Dawson TM, Wszolek ZK. Siuda J, et al. Parkinsonism Relat Disord. 2014 Nov;20(11):1274-8. doi: 10.1016/j.parkreldis.2014.08.019. Epub 2014 Sep 2. Parkinsonism Relat Disord. 2014. PMID: 25226871 Free PMC article.
Cathepsin B p.Gly284Val Variant in Parkinson's Disease Pathogenesis.
Milanowski LM, Hou X, Bredenberg JM, Fiesel FC, Cocker LT, Soto-Beasley AI, Walton RL, Strongosky AJ, Faroqi AH, Barcikowska M, Boczarska-Jedynak M, Dulski J, Fedoryshyn L, Janik P, Potulska-Chromik A, Karpinsky K, Krygowska-Wajs A, Lynch T, Olszewska DA, Opala G, Pulyk A, Rektorova I, Sanotsky Y, Siuda J, Widlak M, Slawek J, Rudzinska-Bar M, Uitti R, Figura M, Szlufik S, Rzonca-Niewczas S, Podgorska E, McLean PJ, Koziorowski D, Ross OA, Hoffman-Zacharska D, Springer W, Wszolek ZK. Milanowski LM, et al. Among authors: boczarska jedynak m. Int J Mol Sci. 2022 Jun 25;23(13):7086. doi: 10.3390/ijms23137086. Int J Mol Sci. 2022. PMID: 35806091 Free PMC article.
Frequency of mutations in PRKN, PINK1, and DJ1 in Patients With Early-Onset Parkinson Disease from neighboring countries in Central Europe.
Milanowski ŁM, Lindemann JA, Hoffman-Zacharska D, Soto-Beasley AI, Barcikowska M, Boczarska-Jedynak M, Deutschlander A, Kłodowska G, Dulski J, Fedoryshyn L, Friedman A, Jamrozik Z, Janik P, Karpinsky K, Koziorowski D, Krygowska-Wajs A, Jasińska-Myga B, Opala G, Potulska-Chromik A, Pulyk A, Rektorova I, Sanotsky Y, Siuda J, Sławek J, Śmiłowska K, Szczechowski L, Rudzińska-Bar M, Walton RL, Ross OA, Wszolek ZK. Milanowski ŁM, et al. Parkinsonism Relat Disord. 2021 May;86:48-51. doi: 10.1016/j.parkreldis.2021.03.026. Epub 2021 Apr 2. Parkinsonism Relat Disord. 2021. PMID: 33845304 Free PMC article.
[Sleep disturbances in Parkinson's disease].
Boczarska-Jedynak M, Opala G. Boczarska-Jedynak M, et al. Neurol Neurochir Pol. 2005 Sep-Oct;39(5):380-8. Neurol Neurochir Pol. 2005. PMID: 16273462 Review. Polish.
Population-specific frequencies for LRRK2 susceptibility variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium.
Heckman MG, Soto-Ortolaza AI, Aasly JO, Abahuni N, Annesi G, Bacon JA, Bardien S, Bozi M, Brice A, Brighina L, Carr J, Chartier-Harlin MC, Dardiotis E, Dickson DW, Diehl NN, Elbaz A, Ferrarese C, Fiske B, Gibson JM, Gibson R, Hadjigeorgiou GM, Hattori N, Ioannidis JP, Boczarska-Jedynak M, Jasinska-Myga B, Jeon BS, Kim YJ, Klein C, Kruger R, Kyratzi E, Lesage S, Lin CH, Lynch T, Maraganore DM, Mellick GD, Mutez E, Nilsson C, Opala G, Park SS, Petrucci S, Puschmann A, Quattrone A, Sharma M, Silburn PA, Sohn YH, Stefanis L, Tadic V, Theuns J, Tomiyama H, Uitti RJ, Valente EM, Van Broeckhoven C, van de Loo S, Vassilatis DK, Vilariño-Güell C, White LR, Wirdefeldt K, Wszolek ZK, Wu RM, Hentati F, Farrer MJ, Ross OA; Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium. Heckman MG, et al. Mov Disord. 2013 Oct;28(12):1740-4. doi: 10.1002/mds.25600. Epub 2013 Aug 2. Mov Disord. 2013. PMID: 23913756 Free PMC article.
GWAS risk factors in Parkinson's disease: LRRK2 coding variation and genetic interaction with PARK16.
Soto-Ortolaza AI, Heckman MG, Labbé C, Serie DJ, Puschmann A, Rayaprolu S, Strongosky A, Boczarska-Jedynak M, Opala G, Krygowska-Wajs A, Barcikowska M, Czyzewski K, Lynch T, Uitti RJ, Wszolek ZK, Ross OA. Soto-Ortolaza AI, et al. Am J Neurodegener Dis. 2013 Nov 29;2(4):287-99. eCollection 2013. Am J Neurodegener Dis. 2013. PMID: 24319646 Free PMC article.
Genetic variation of the retromer subunits VPS26A/B-VPS29 in Parkinson's disease.
Shannon B, Soto-Ortolaza A, Rayaprolu S, Cannon HD, Labbé C, Benitez BA, Choi J, Lynch T, Boczarska-Jedynak M, Opala G, Krygowska-Wajs A, Barcikowska M, Van Gerpen JA, Uitti RJ, Springer W, Cruchaga C, Wszolek ZK, Ross OA. Shannon B, et al. Neurobiol Aging. 2014 Aug;35(8):1958.e1-2. doi: 10.1016/j.neurobiolaging.2014.03.004. Epub 2014 Mar 5. Neurobiol Aging. 2014. PMID: 24684791 Free PMC article.
45 results