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Friedreich ataxia is not only a GAA repeats expansion disorder: implications for molecular testing and counselling.
J Appl Genet. 2016 Aug;57(3):349-55. doi: 10.1007/s13353-015-0331-4. Epub 2016 Feb 23.
J Appl Genet. 2016.
PMID: 26906906
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.
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[Trends and expectations the research on the molecular background of epileptic encephalopathies - state of the art in 2017].
Hoffman-Zacharska D, Górka-Skoczylas P.
Hoffman-Zacharska D, et al. Among authors: gorka skoczylas p.
Dev Period Med. 2017;21(4):317-327. doi: 10.34763/devperiodmed.20172104.317327.
Dev Period Med. 2017.
PMID: 29291359
Free PMC article.
Review.
Polish.
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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.
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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.
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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.
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