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Page 1
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: sanotsky y. Brain. 2017 Jan;140(1):98-117. doi: 10.1093/brain/aww261. Epub 2016 Nov 2. Brain. 2017. PMID: 27807026 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: sanotsky y. Neurology. 2015 Nov 10;85(19):1680-6. doi: 10.1212/WNL.0000000000001946. Epub 2015 Sep 2. Neurology. 2015. PMID: 26333800 Free PMC article.
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: sanotsky y. Brain. 2017 Jun 1;140(6):e33. doi: 10.1093/brain/awx077. Brain. 2017. PMID: 28379295 Free PMC article. No abstract available.
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: sanotsky y. 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.
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: sanotsky y. Int J Mol Sci. 2022 Jun 25;23(13):7086. doi: 10.3390/ijms23137086. Int J Mol Sci. 2022. PMID: 35806091 Free PMC article.
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: sanotsky y. Eur J Neurol. 2015 Sep;22(9):1323-5. doi: 10.1111/ene.12770. Eur J Neurol. 2015. PMID: 26278106 Free PMC article.
Decision making, impulsivity, and addictions: do Parkinson's disease patients jump to conclusions?
Djamshidian A, O'Sullivan SS, Sanotsky Y, Sharman S, Matviyenko Y, Foltynie T, Michalczuk R, Aviles-Olmos I, Fedoryshyn L, Doherty KM, Filts Y, Selikhova M, Bowden-Jones H, Joyce E, Lees AJ, Averbeck BB. Djamshidian A, et al. Among authors: sanotsky y. Mov Disord. 2012 Aug;27(9):1137-45. doi: 10.1002/mds.25105. Epub 2012 Jul 20. Mov Disord. 2012. PMID: 22821557 Free PMC article.
Increased reflection impulsivity in patients with ephedrone-induced Parkinsonism.
Djamshidian A, Sanotsky Y, Matviyenko Y, O'Sullivan SS, Sharman S, Selikhova M, Fedoryshyn L, Filts Y, Bearn J, Lees AJ, Averbeck BB. Djamshidian A, et al. Among authors: sanotsky y. Addiction. 2013 Apr;108(4):771-9. doi: 10.1111/add.12080. Epub 2013 Feb 11. Addiction. 2013. PMID: 23228208 Free PMC article.
Neuropathological Findings in Ephedrone Encephalopathy.
Sanotsky Y, Selikhova M, Fedoryshyn L, Kuzyk P, Matviyenko Y, Semeryak O, Dziewulska D, Holton JL, Lees AJ. Sanotsky Y, et al. Mov Disord. 2020 Oct;35(10):1858-1863. doi: 10.1002/mds.28125. Epub 2020 Jun 16. Mov Disord. 2020. PMID: 32542919
12 results