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Genetic testing for inherited cardiovascular diseases. A position statement of the Polish Cardiac Society endorsed by Polish Society of Human Genetics and Cardiovascular Patient Communities.
Biernacka EK, Osadnik T, Bilińska ZT, Krawczyński M, Latos-Bieleńska A, Łaczmańska I, Miszczak-Knecht M, Płoski R, Ponińska JK, Prejbisz A, Rubiś P, Rudnicka A, Szczałuba K, Szczygieł JA, Własienko P, Wołczenko A, Zienciuk-Krajka A, Ziółkowska L, Gil R. Biernacka EK, et al. Among authors: szczaluba k. Kardiol Pol. 2024 May 7. doi: 10.33963/v.phj.100490. Online ahead of print. Kardiol Pol. 2024. PMID: 38712785 Free article. No abstract available.
Developmental epileptic encephalopathy in DLG4-related synaptopathy.
Kassabian B, Levy AM, Gardella E, Aledo-Serrano A, Ananth AL, Brea-Fernández AJ, Caumes R, Chatron N, Dainelli A, De Wachter M, Denommé-Pichon AS, Dye TJ, Fazzi E, Felt R, Fernández-Jaén A, Fernández-Prieto M, Gantz E, Gasperowicz P, Gil-Nagel A, Gómez-Andrés D, Greiner HM, Guerrini R, Haanpää MK, Helin M, Hoyer J, Hurst ACE, Kallish S, Karkare SN, Khan A, Kleinendorst L, Koch J, Kothare SV, Koudijs SM, Lagae L, Lakeman P, Leppig KA, Lesca G, Lopergolo D, Lusk L, Mackenzie A, Mei D, Møller RS, Pereira EM, Platzer K, Quelin C, Revah-Politi A, Rheims S, Rodríguez-Palmero A, Rossi A, Santorelli F, Seinfeld S, Sell E, Stephenson D, Szczaluba K, Trinka E, Umair M, Van Esch H, van Haelst MM, Veenma DCM, Weber S, Weckhuysen S, Zacher P, Tümer Z, Rubboli G. Kassabian B, et al. Among authors: szczaluba k. Epilepsia. 2024 Apr;65(4):1029-1045. doi: 10.1111/epi.17876. Epub 2024 Feb 29. Epilepsia. 2024. PMID: 38135915
Clinical heterogeneity of polish patients with KAT6B-related disorder.
Klaniewska M, Bolanowska-Tyszko A, Latos-Bielenska A, Jezela-Stanek A, Szczaluba K, Krajewska-Walasek M, Ciara E, Pelc M, Jurkiewicz D, Stawinski P, Zubkiewicz-Kucharska A, Rydzanicz M, Ploski R, Smigiel R. Klaniewska M, et al. Among authors: szczaluba k. Mol Genet Genomic Med. 2023 Dec;11(12):e2265. doi: 10.1002/mgg3.2265. Epub 2023 Sep 1. Mol Genet Genomic Med. 2023. PMID: 37658610 Free PMC article.
Plasma Neurofilament Light Chain Is Elevated in Adaptor Protein Complex 4-Related Hereditary Spastic Paraplegia.
Alecu JE, Saffari A, Ziegler M, Jordan C, Tam A, Kim S, Leung E, Szczaluba K, Mierzewska H, King SD, Santorelli FM, Yoon G, Trombetta B, Kivisäkk P, Zhang B, Sahin M, Ebrahimi-Fakhari D. Alecu JE, et al. Among authors: szczaluba k. Mov Disord. 2023 Sep;38(9):1742-1750. doi: 10.1002/mds.29524. Epub 2023 Jul 22. Mov Disord. 2023. PMID: 37482941
Mucopolysaccharidosis-Plus Syndrome: Report on a Polish Patient with a Novel VPS33A Variant with Comparison with Other Described Patients.
Lipiński P, Szczałuba K, Buda P, Zakharova EY, Baydakova G, Ługowska A, Różdzyńska-Świątkowska A, Cyske Z, Węgrzyn G, Pollak A, Płoski R, Tylki-Szymańska A. Lipiński P, et al. Among authors: szczaluba k. Int J Mol Sci. 2022 Sep 28;23(19):11424. doi: 10.3390/ijms231911424. Int J Mol Sci. 2022. PMID: 36232726 Free PMC article.
A novel KEL c.1414-1G>T allele in a polish patient with anti-Ku antibody.
Pelc-Kłopotowska M, Płoski R, Szczałuba K, Szymańska K, Rydzanicz M, Purchla-Szepioła S, Kolasińska K, Lewicka M, Thornton N, Crew VK, Orzińska A, Guz K. Pelc-Kłopotowska M, et al. Among authors: szczaluba k. Transfusion. 2022 Sep;62(9):E43-E44. doi: 10.1111/trf.17040. Epub 2022 Aug 6. Transfusion. 2022. PMID: 35932201 No abstract available.
70 results