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Page 1
Next generation sequencing panel as an effective approach to genetic testing in patients with a highly variable phenotype of neuromuscular disorders.
Radziwonik-Fraczyk W, Elert-Dobkowska E, Karpinski M, Pilch J, Ziora-Jakutowicz K, Kubalska J, Szczesniak D, Stepniak I, Zaremba J, Sulek A. Radziwonik-Fraczyk W, et al. Among authors: kubalska j. Neurogenetics. 2024 Jul;25(3):233-247. doi: 10.1007/s10048-024-00762-y. Epub 2024 May 17. Neurogenetics. 2024. PMID: 38758368 Free PMC article.
Identification of N-homocysteinylation sites in plasma proteins.
Sikora M, Marczak Ł, Kubalska J, Graban A, Jakubowski H. Sikora M, et al. Among authors: kubalska j. Amino Acids. 2014 Jan;46(1):235-44. doi: 10.1007/s00726-013-1617-7. Epub 2013 Nov 30. Amino Acids. 2014. PMID: 24292153
Elevated Dipeptidyl Peptidase IV (DPP-IV) Activity in Plasma from Patients with Various Lysosomal Diseases.
Ługowska A, Baydakova G, Ilyushkina A, Zakharova E, Mierzewska H, Szymańska K, Wierzba J, Kubalska J, Graban A, Kmieć T, Perkowska-Sumiła B, Tylki-Szymańska A, Bednarska-Makaruk M. Ługowska A, et al. Among authors: kubalska j. Diagnostics (Basel). 2021 Feb 16;11(2):320. doi: 10.3390/diagnostics11020320. Diagnostics (Basel). 2021. PMID: 33669444 Free PMC article.
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: kubalska j. Mitochondrion. 2013 Nov;13(6):810-6. doi: 10.1016/j.mito.2013.05.007. Epub 2013 May 26. Mitochondrion. 2013. PMID: 23719228
Evidence for a relatively high proportion of DM2 mutations in a large group of Polish patients.
Sulek A, Lusakowska A, Krysa W, Rajkiewicz M, Kaminska A, Nojszewska M, Kostera-Pruszczyk A, Zdzienicka E, Kubalska J, Rakowicz M, Szirkowiec W, Kwiecinski H, Zaremba J. Sulek A, et al. Among authors: kubalska j. Neurol Neurochir Pol. 2018 Nov-Dec;52(6):736-742. doi: 10.1016/j.pjnns.2018.02.008. Epub 2018 Mar 7. Neurol Neurochir Pol. 2018. PMID: 29588063
WITHDRAWN: Evidence for a relatively high proportion of DM2 mutations in a large group of Polish patients.
Sulek A, Lusakowska A, Krysa W, Rajkiewicz M, Kaminska A, Nojszewska M, Kostera-Pruszczyk A, Zdzienicka E, Kubalska J, Rakowicz M, Szirkowiec W, Kwiecinski H, Zaremba J. Sulek A, et al. Among authors: kubalska j. Neurol Neurochir Pol. 2018 May 17:S0028-3843(18)30152-X. doi: 10.1016/j.pjnns.2018.04.004. Online ahead of print. Neurol Neurochir Pol. 2018. PMID: 29880430 Free article.
20 results