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Cathepsin B p.Gly284Val Variant in Parkinson's Disease Pathogenesis.
Int J Mol Sci. 2022 Jun 25;23(13):7086. doi: 10.3390/ijms23137086.
Int J Mol Sci. 2022.
PMID: 35806091
Free PMC article.
WDR13: A Novel Gene Implicated in Non-Syndromic Intellectual Disability.
Rzońca-Niewczas S, Wierzba J, Kaczorowska E, Poryszewska M, Kosińska J, Stawiński P, Płoski R, Bal J.
Rzońca-Niewczas S, et al.
Genes (Basel). 2021 Nov 28;12(12):1911. doi: 10.3390/genes12121911.
Genes (Basel). 2021.
PMID: 34946860
Free PMC article.
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Destabilization of mutated human PUS3 protein causes intellectual disability.
Lin TY, Smigiel R, Kuzniewska B, Chmielewska JJ, Kosińska J, Biela M, Biela A, Kościelniak A, Dobosz D, Laczmanska I, Chramiec-Głąbik A, Jeżowski J, Nowak J, Gos M, Rzonca-Niewczas S, Dziembowska M, Ploski R, Glatt S.
Lin TY, et al. Among authors: rzonca niewczas s.
Hum Mutat. 2022 Dec;43(12):2063-2078. doi: 10.1002/humu.24471. Epub 2022 Oct 2.
Hum Mutat. 2022.
PMID: 36125428
Free PMC article.
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The Generation of Human iPSC Lines from Three Individuals with Dravet Syndrome and Characterization of Neural Differentiation Markers in iPSC-Derived Ventral Forebrain Organoid Model.
Zayat V, Kuczynska Z, Liput M, Metin E, Rzonca-Niewczas S, Smyk M, Mazurczak T, Goszczanska-Ciuchta A, Leszczynski P, Hoffman-Zacharska D, Buzanska L.
Zayat V, et al. Among authors: rzonca niewczas s.
Cells. 2023 Jan 16;12(2):339. doi: 10.3390/cells12020339.
Cells. 2023.
PMID: 36672274
Free PMC article.
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Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants.
Leonardi E, Aspromonte MC, Drongitis D, Bettella E, Verrillo L, Polli R, McEntagart M, Licchetta L, Dilena R, D'Arrigo S, Ciaccio C, Esposito S, Leuzzi V, Torella A, Baldo D, Lonardo F, Bonato G, Pellegrin S, Stanzial F, Posmyk R, Kaczorowska E, Carecchio M, Gos M, Rzońca-Niewczas S, Miano MG, Murgia A.
Leonardi E, et al. Among authors: rzonca niewczas s.
Eur J Hum Genet. 2023 Feb;31(2):202-215. doi: 10.1038/s41431-022-01233-4. Epub 2022 Nov 25.
Eur J Hum Genet. 2023.
PMID: 36434256
Free PMC article.
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