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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. Among authors: opala g. 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. Among authors: opala g. Brain. 2017 Jan;140(1):98-117. doi: 10.1093/brain/aww261. Epub 2016 Nov 2. Brain. 2017. PMID: 27807026 Free PMC article.
Calbindin-1 association and Parkinson's disease.
Soto-Ortolaza AI, Behrouz B, Wider C, Vilariño-Güell C, Heckman MG, Aasly JO, Mark Gibson J, Lynch T, Jasinska-Myga B, Krygowska-Wajs A, Opala G, Barcikowska M, Czyzewski K, Uitti RJ, Wszolek ZK, Farrer MJ, Ross OA. Soto-Ortolaza AI, et al. Among authors: opala g. Eur J Neurol. 2010 Feb;17(2):208-11. doi: 10.1111/j.1468-1331.2009.02769.x. Epub 2009 Aug 5. Eur J Neurol. 2010. PMID: 19674066
Death-associated protein kinase 1 variation and Parkinson's disease.
Dachsel JC, Wider C, Vilariño-Güell C, Aasly JO, Rajput A, Rajput AH, Lynch T, Craig D, Krygowska-Wajs A, Jasinska-Myga B, Opala G, Barcikowska M, Czyzewski K, Wu RM, Heckman MG, Uitti RJ, Wszolek ZK, Farrer MJ, Ross OA. Dachsel JC, et al. Among authors: opala g. Eur J Neurol. 2011 Aug;18(8):1090-3. doi: 10.1111/j.1468-1331.2010.03255.x. Epub 2010 Nov 30. Eur J Neurol. 2011. PMID: 21749573
DNAJC13 p.Asn855Ser mutation screening in Parkinson's disease and pathologically confirmed Lewy body disease patients.
Lorenzo-Betancor O, Ogaki K, Soto-Ortolaza AI, Labbe C, Walton RL, Strongosky AJ, van Gerpen JA, Uitti RJ, McLean PJ, Springer W, Siuda J, Opala G, Krygowska-Wajs A, Barcikowska M, Czyzewski K, McCarthy A, Lynch T, Puschmann A, Rektorova I, Sanotsky Y, Vilariño-Güell C, Farrer MJ, Ferman TJ, Boeve BF, Petersen RC, Parisi JE, Graff-Radford NR, Dickson DW, Wszolek ZK, Ross OA. Lorenzo-Betancor O, et al. Among authors: opala g. Eur J Neurol. 2015 Sep;22(9):1323-5. doi: 10.1111/ene.12770. Eur J Neurol. 2015. PMID: 26278106 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. Among authors: opala g. 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. Among authors: opala g. 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.
Role for the microtubule-associated protein tau variant p.A152T in risk of α-synucleinopathies.
Labbé C, Ogaki K, Lorenzo-Betancor O, Soto-Ortolaza AI, Walton RL, Rayaprolu S, Fujioka S, Murray ME, Heckman MG, Puschmann A, McCarthy A, Lynch T, Siuda J, Opala G, Rudzinska M, Krygowska-Wajs A, Barcikowska M, Czyzewski K, Sanotsky Y, Rektorová I, McLean PJ, Rademakers R, Ertekin-Taner N, Hassan A, Ahlskog JE, Boeve BF, Petersen RC, Maraganore DM, Adler CH, Ferman TJ, Parisi JE, Graff-Radford NR, Uitti RJ, Wszolek ZK, Dickson DW, Ross OA. Labbé C, et al. Among authors: opala g. Neurology. 2015 Nov 10;85(19):1680-6. doi: 10.1212/WNL.0000000000001946. Epub 2015 Sep 2. Neurology. 2015. PMID: 26333800 Free PMC article.
Mitochondrial targeting sequence variants of the CHCHD2 gene are a risk for Lewy body disorders.
Ogaki K, Koga S, Heckman MG, Fiesel FC, Ando M, Labbé C, Lorenzo-Betancor O, Moussaud-Lamodière EL, Soto-Ortolaza AI, Walton RL, Strongosky AJ, Uitti RJ, McCarthy A, Lynch T, Siuda J, Opala G, Rudzinska M, Krygowska-Wajs A, Barcikowska M, Czyzewski K, Puschmann A, Nishioka K, Funayama M, Hattori N, Parisi JE, Petersen RC, Graff-Radford NR, Boeve BF, Springer W, Wszolek ZK, Dickson DW, Ross OA. Ogaki K, et al. Among authors: opala g. Neurology. 2015 Dec 8;85(23):2016-25. doi: 10.1212/WNL.0000000000002170. Epub 2015 Nov 11. Neurology. 2015. PMID: 26561290 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. Among authors: opala g. 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.
151 results