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Page 1
Cardiac autonomic function in type 1 and type 2 myotonic dystrophy.
Bienias P, Łusakowska A, Ciurzyński M, Rymarczyk Z, Irzyk K, Konwerski M, Ciąpała K, Kowalski P, Kamińska A, Pruszczyk P. Bienias P, et al. Among authors: kowalski p. Clin Auton Res. 2017 Jun;27(3):193-202. doi: 10.1007/s10286-017-0413-y. Epub 2017 Mar 20. Clin Auton Res. 2017. PMID: 28321519
The frequency of mitochondrial polymerase gamma related disorders in a large Polish population cohort.
Piekutowska-Abramczuk D, Kaliszewska M, Sułek A, Jurkowska N, Ołtarzewski M, Jabłońska E, Trubicka J, Głowacka A, Ciara E, Kowalski P, Langiewicz-Wojciechowska K, Tesarova M, Zeman J, Kierdaszuk B, Kuczyński D, Chmielewski D, Szymańska E, Bakuła A, Łusakowska A, Lipowska M, Brodacki B, Pera J, Dorobek M, Rydzanicz M, Płoski R, Chrzanowska KH, Bartnik E, Placha G, Kamińska A, Kostera-Pruszczyk A, Krajewska-Walasek M, Tońska K, Pronicka E. Piekutowska-Abramczuk D, et al. Among authors: kowalski p. Mitochondrion. 2019 Jul;47:179-187. doi: 10.1016/j.mito.2018.11.004. Epub 2018 Nov 10. Mitochondrion. 2019. PMID: 30423451 Clinical Trial.
Diagnosing MERRF requires clinical and genetic evidence.
Felczak P, Stępniak I, Kowalski P, Stępień T, Wierzba-Bobrowicz T. Felczak P, et al. Among authors: kowalski p. Pol J Pathol. 2019;70(2):144-145. doi: 10.5114/pjp.2019.87106. Pol J Pathol. 2019. PMID: 31556566 Free article. No abstract available.
The natural history of SCO2 deficiency in 36 Polish children confirmed the genotype-phenotype correlation.
Pronicka E, Piekutowska-Abramczuk D, Szymańska-Dębińska T, Bielecka L, Kowalski P, Luczak S, Karkucińska-Więckowska A, Migdał M, Kubalska J, Zimowski J, Jamroz E, Wierzba J, Sykut-Cegielska J, Pronicki M, Zaremba J, Krajewska-Walasek M. Pronicka E, et al. Among authors: kowalski p. Mitochondrion. 2013 Nov;13(6):810-6. doi: 10.1016/j.mito.2013.05.007. Epub 2013 May 26. Mitochondrion. 2013. PMID: 23719228
Drug-resistant epilepsia and fulminant valproate liver toxicity. Alpers-Huttenlocher syndrome in two children confirmed post mortem by identification of p.W748S mutation in POLG gene.
Pronicka E, Weglewska-Jurkiewicz A, Pronicki M, Sykut-Cegielska J, Kowalski P, Pajdowska M, Jankowska I, Kotulska K, Kalicinski P, Jakobkiewicz-Banecka J, Wegrzyn G. Pronicka E, et al. Among authors: kowalski p. Med Sci Monit. 2011 Apr;17(4):CR203-9. doi: 10.12659/msm.881716. Med Sci Monit. 2011. PMID: 21455106 Free PMC article.
No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction.
Piekutowska-Abramczuk D, Kocyła-Karczmarewicz B, Małkowska M, Łuczak S, Iwanicka-Pronicka K, Siegmund S, Yang H, Wen Q, Hoang QV, Silverman RH, Kowalski P, Szczypińska O, Czornak K, Zimowski J, Płoski R, Pilch J, Ciara E, Zaremba J, Krajewska-Walasek M, Schon EA, Pronicka E. Piekutowska-Abramczuk D, et al. Among authors: kowalski p. JIMD Rep. 2016;27:63-8. doi: 10.1007/8904_2015_468. Epub 2015 Oct 2. JIMD Rep. 2016. PMID: 26427993 Free PMC article.
Early treatment of biotin-thiamine-responsive basal ganglia disease improves the prognosis.
Wesół-Kucharska D, Greczan M, Kaczor M, Pajdowska M, Piekutowska-Abramczuk D, Ciara E, Halat-Wolska P, Kowalski P, Jurkiewicz E, Rokicki D. Wesół-Kucharska D, et al. Among authors: kowalski p. Mol Genet Metab Rep. 2021 Sep 29;29:100801. doi: 10.1016/j.ymgmr.2021.100801. eCollection 2021 Dec. Mol Genet Metab Rep. 2021. PMID: 34631424 Free PMC article.
314 results