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Genomic instability in the PARK2 locus is associated with Parkinson's disease.
Ambroziak W, Koziorowski D, Duszyc K, Górka-Skoczylas P, Potulska-Chromik A, Sławek J, Hoffman-Zacharska D. Ambroziak W, et al. Among authors: gorka skoczylas p. J Appl Genet. 2015 Nov;56(4):451-461. doi: 10.1007/s13353-015-0282-9. Epub 2015 Apr 2. J Appl Genet. 2015. PMID: 25833766 Free PMC article.
Genetics of Parkinson's disease in the Polish population.
Milanowski ŁM, Ross OA, Friedman A, Hoffman-Zacharska D, Gorka-Skoczylas P, Jurek M, Koziorowski D, Wszolek ZK. Milanowski ŁM, et al. Among authors: gorka skoczylas p. Neurol Neurochir Pol. 2021;55(3):241-252. doi: 10.5603/PJNNS.a2021.0013. Epub 2021 Feb 4. Neurol Neurochir Pol. 2021. PMID: 33539026 Free article.
The PINK1 p.I368N mutation affects protein stability and ubiquitin kinase activity.
Ando M, Fiesel FC, Hudec R, Caulfield TR, Ogaki K, Górka-Skoczylas P, Koziorowski D, Friedman A, Chen L, Dawson VL, Dawson TM, Bu G, Ross OA, Wszolek ZK, Springer W. Ando M, et al. Among authors: gorka skoczylas p. Mol Neurodegener. 2017 Apr 24;12(1):32. doi: 10.1186/s13024-017-0174-z. Mol Neurodegener. 2017. PMID: 28438176 Free PMC article.
Genetic Risk Factors for Neurological Disorders in Children with Adverse Events Following Immunization: A Descriptive Study of a Polish Case Series.
Charzewska A, Terczyńska I, Lipiec A, Mazurczak T, Górka-Skoczylas P, Szlendak R, Kanabus K, Tataj R, Dawidziuk M, Wojtaś B, Gielniewski B, Bal J, Stawicka E, Hoffman-Zacharska D. Charzewska A, et al. Among authors: gorka skoczylas p. Int J Mol Sci. 2023 Jan 6;24(2):1117. doi: 10.3390/ijms24021117. Int J Mol Sci. 2023. PMID: 36674629 Free PMC article.