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Page 1
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.
TREM2 in neurodegeneration: evidence for association of the p.R47H variant with frontotemporal dementia and Parkinson's disease.
Rayaprolu S, Mullen B, Baker M, Lynch T, Finger E, Seeley WW, Hatanpaa KJ, Lomen-Hoerth C, Kertesz A, Bigio EH, Lippa C, Josephs KA, Knopman DS, White CL 3rd, Caselli R, Mackenzie IR, Miller BL, Boczarska-Jedynak M, Opala G, Krygowska-Wajs A, Barcikowska M, Younkin SG, Petersen RC, Ertekin-Taner N, Uitti RJ, Meschia JF, Boylan KB, Boeve BF, Graff-Radford NR, Wszolek ZK, Dickson DW, Rademakers R, Ross OA. Rayaprolu S, et al. Mol Neurodegener. 2013 Jun 21;8:19. doi: 10.1186/1750-1326-8-19. Mol Neurodegener. 2013. PMID: 23800361 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.
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.
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.
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.
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.
Validation of the Polish version of the Movement Disorder Society-Unified Parkinson's Disease Rating Scale (MDS-UPDRS).
Siuda J, Boczarska-Jedynak M, Budrewicz S, Dulski J, Figura M, Fiszer U, Gajos A, Gorzkowska A, Koziorowska-Gawron E, Koziorowski D, Krygowska-Wajs A, Rudzińska-Bar M, Sławek J, Ren X, Luo S, Martinez-Martin P, Stebbins G, Goetz CG, Opala G; MDS-UPDRS Polish Validation Task Force. Siuda J, et al. Neurol Neurochir Pol. 2020;54(5):416-425. doi: 10.5603/PJNNS.a2020.0049. Epub 2020 Jul 8. Neurol Neurochir Pol. 2020. PMID: 32639019
Validation of the Polish version of the Unified Dyskinesia Rating Scale (UDysRS).
Siuda J, Boczarska-Jedynak M, Budrewicz S, Dulski J, Figura M, Fiszer U, Gajos A, Gorzkowska A, Koziorowska-Gawron E, Koziorowski D, Krygowska-Wajs A, Rudzińska-Bar M, Sławek J, Toś M, Wójcik-Pędziwiatr M, Lin J, Luo S, Martinez-Martin P, Stebbins GT, Goetz CG, Opala G; Polish UDysRS Validation Task Force. Siuda J, et al. Neurol Neurochir Pol. 2021;55(2):186-194. doi: 10.5603/PJNNS.a2021.0010. Epub 2021 Feb 2. Neurol Neurochir Pol. 2021. PMID: 33528833
45 results