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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: jurek m. 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.
Expanding the phenotype associated with missense mutations of the ARX gene.
Charzewska A, Nawara M, Jakubiuk-Tomaszuk A, Obersztyn E, Hoffman-Zacharska D, Elert E, Jurek M, Bartnik M, Poznański J, Bal J. Charzewska A, et al. Among authors: jurek m. Am J Med Genet A. 2013 Jul;161A(7):1813-6. doi: 10.1002/ajmg.a.36003. Epub 2013 May 8. Am J Med Genet A. 2013. PMID: 23657928 No abstract available.
Novel A18T and pA29S substitutions in α-synuclein may be associated with sporadic Parkinson's disease.
Hoffman-Zacharska D, Koziorowski D, Ross OA, Milewski M, Poznanski JA, Jurek M, Wszolek ZK, Soto-Ortolaza A, Awek JAS, Janik P, Jamrozik Z, Potulska-Chromik A, Jasinska-Myga B, Opala G, Krygowska-Wajs A, Czyzewski K, Dickson DW, Bal J, Friedman A. Hoffman-Zacharska D, et al. Among authors: jurek m. Parkinsonism Relat Disord. 2013 Nov;19(11):1057-1060. doi: 10.1016/j.parkreldis.2013.07.011. Epub 2013 Aug 2. Parkinsonism Relat Disord. 2013. PMID: 23916651 Free PMC article.
Comprehensive genomic analysis of patients with disorders of cerebral cortical development.
Wiszniewski W, Gawlinski P, Gambin T, Bekiesinska-Figatowska M, Obersztyn E, Antczak-Marach D, Akdemir ZHC, Harel T, Karaca E, Jurek M, Sobecka K, Nowakowska B, Kruk M, Terczynska I, Goszczanska-Ciuchta A, Rudzka-Dybala M, Jamroz E, Pyrkosz A, Jakubiuk-Tomaszuk A, Iwanowski P, Gieruszczak-Bialek D, Piotrowicz M, Sasiadek M, Kochanowska I, Gurda B, Steinborn B, Dawidziuk M, Castaneda J, Wlasienko P, Bezniakow N, Jhangiani SN, Hoffman-Zacharska D, Bal J, Szczepanik E, Boerwinkle E, Gibbs RA, Lupski JR. Wiszniewski W, et al. Among authors: jurek m. Eur J Hum Genet. 2018 Aug;26(8):1121-1131. doi: 10.1038/s41431-018-0137-z. Epub 2018 Apr 30. Eur J Hum Genet. 2018. PMID: 29706646 Free PMC article.
78 results