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Long-Term Evaluation of Biomarkers in the Czech Cohort of Gaucher Patients.
Malinová V, Poupětová H, Řeboun M, Dvořáková L, Reichmannová S, Švandová I, Murgašová L, Kasper DC, Magner M. Malinová V, et al. Among authors: magner m. Int J Mol Sci. 2023 Sep 22;24(19):14440. doi: 10.3390/ijms241914440. Int J Mol Sci. 2023. PMID: 37833892 Free PMC article.
SURF1 missense mutations promote a mild Leigh phenotype.
Piekutowska-Abramczuk D, Magner M, Popowska E, Pronicki M, Karczmarewicz E, Sykut-Cegielska J, Kmiec T, Jurkiewicz E, Szymanska-Debinska T, Bielecka L, Krajewska-Walasek M, Vesela K, Zeman J, Pronicka E. Piekutowska-Abramczuk D, et al. Among authors: magner m. Clin Genet. 2009 Aug;76(2):195-204. doi: 10.1111/j.1399-0004.2009.01195.x. Clin Genet. 2009. PMID: 19780766
European Young Pediatricians Association: Laying the Foundations for Collaboration, Integration, and Networking among Pediatricians of the Future.
Gray S, Raschetti R, Beşer ÖF, Elicin PU, Aversa S, Pamuk G, Ozdil M, Berlese P, Ferreira-Magalhães M, Magner M, Ignat A, Lupu VV, Zsigmond B, Ghazaryan H, Rosenbaum S, Bendavid M, Bacquet M, Varga N, James D, Bon A, Vecchio D. Gray S, et al. Among authors: magner m. J Pediatr. 2016 Apr;171:324-5.e1. doi: 10.1016/j.jpeds.2015.12.013. J Pediatr. 2016. PMID: 27017465 Free article. No abstract available.
Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein.
Vazna A, Beesley C, Berna L, Stolnaja L, Myskova H, Bouckova M, Vlaskova H, Poupetova H, Zeman J, Magner M, Hlavata A, Winchester B, Hrebicek M, Dvorakova L. Vazna A, et al. Among authors: magner m. Am J Med Genet A. 2009 May;149A(5):965-74. doi: 10.1002/ajmg.a.32812. Am J Med Genet A. 2009. PMID: 19396826 Free PMC article.
Clinical manifestation of mitochondrial diseases.
Magner M, Kolářová H, Honzik T, Švandová I, Zeman J. Magner M, et al. Dev Period Med. 2015 Oct-Dec;19(4):441-9. Dev Period Med. 2015. PMID: 26982751 Review.
X-Chromosome Inactivation Analysis in Different Cell Types and Induced Pluripotent Stem Cells Elucidates the Disease Mechanism in a Rare Case of Mucopolysaccharidosis Type II in a Female.
Řeboun M, Rybová J, Dobrovolný R, Včelák J, Veselková T, Štorkánová G, Mušálková D, Hřebíček M, Ledvinová J, Magner M, Zeman J, Pešková K, Dvořáková L. Řeboun M, et al. Among authors: magner m. Folia Biol (Praha). 2016;62(2):82-9. Folia Biol (Praha). 2016. PMID: 27187040 Free article.
105 results