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Page 1
Misprocessing of α -Galactosidase A, Endoplasmic Reticulum Stress, and the Unfolded Protein Response.
Živná M, Dostálová G, Barešová V, Mušálková D, Svojšová K, Meiseles D, Kinstlinger S, Kuchař L, Asfaw B, Poupětová H, Vlášková H, Kmochová T, Vyleťal P, Hartmannová H, Hodaňová K, Stránecký V, Steiner-Mrázová L, Hnízda A, Živný J, Radina M, Votruba M, Sovová J, Trešlová H, Stolnaja L, Reková P, Roblová L, Honsová E, Rychlík I, Dvela-Levitt M, Bleyer AJ, Linhart A, Sikora J, Kmoch S. Živná M, et al. Among authors: stolnaja l. J Am Soc Nephrol. 2024 Nov 12. doi: 10.1681/ASN.0000000535. Online ahead of print. J Am Soc Nephrol. 2024. PMID: 39704415 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: stolnaja l. 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.
Unusual presentation of Kelley-Seegmiller syndrome.
Sebesta I, Stiburková B, Dvorakova L, Hrebicek M, Minks J, Stolnaja L, Vernerova Z, Rychlik I. Sebesta I, et al. Among authors: stolnaja l. Nucleosides Nucleotides Nucleic Acids. 2008 Jun;27(6):648-55. doi: 10.1080/15257770802143863. Nucleosides Nucleotides Nucleic Acids. 2008. PMID: 18600521
Atypical CLN2 with later onset and prolonged course: a neuropathologic study showing different sensitivity of neuronal subpopulations to TPP1 deficiency.
Elleder M, Dvoráková L, Stolnaja L, Vlásková H, Hůlková H, Druga R, Poupetová H, Kostálová E, Mikulástík J. Elleder M, et al. Among authors: stolnaja l. Acta Neuropathol. 2008 Jul;116(1):119-24. doi: 10.1007/s00401-008-0349-3. Epub 2008 Feb 19. Acta Neuropathol. 2008. PMID: 18283468 Free PMC article.
Genetic and clinical features of patients with Gaucher disease in Hungary.
Erdos M, Hodanova K, Taskó S, Palicz A, Stolnaja L, Dvorakova L, Hrebicek M, Maródi L. Erdos M, et al. Among authors: stolnaja l. Blood Cells Mol Dis. 2007 Jul-Aug;39(1):119-23. doi: 10.1016/j.bcmd.2007.02.005. Epub 2007 Mar 28. Blood Cells Mol Dis. 2007. PMID: 17395504 Clinical Trial.