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Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study.
Pavlů-Pereira H, Asfaw B, Poupctová H, Ledvinová J, Sikora J, Vanier MT, Sandhoff K, Zeman J, Novotná Z, Chudoba D, Elleder M. Pavlů-Pereira H, et al. Among authors: sikora j. J Inherit Metab Dis. 2005;28(2):203-27. doi: 10.1007/s10545-005-5671-5. J Inherit Metab Dis. 2005. PMID: 15877209
Replacement of alpha-galactosidase A in Fabry disease: effect on fibroblast cultures compared with biopsied tissues of treated patients.
Keslová-Veselíková J, Hůlková H, Dobrovolný R, Asfaw B, Poupetová H, Berná L, Sikora J, Golán L, Ledvinová J, Elleder M. Keslová-Veselíková J, et al. Among authors: sikora j. Virchows Arch. 2008 Jun;452(6):651-65. doi: 10.1007/s00428-008-0586-9. Epub 2008 Mar 20. Virchows Arch. 2008. PMID: 18351385 Free PMC article.
A murine Niemann-Pick C1 I1061T knock-in model recapitulates the pathological features of the most prevalent human disease allele.
Praggastis M, Tortelli B, Zhang J, Fujiwara H, Sidhu R, Chacko A, Chen Z, Chung C, Lieberman AP, Sikora J, Davidson C, Walkley SU, Pipalia NH, Maxfield FR, Schaffer JE, Ory DS. Praggastis M, et al. Among authors: sikora j. J Neurosci. 2015 May 27;35(21):8091-106. doi: 10.1523/JNEUROSCI.4173-14.2015. J Neurosci. 2015. PMID: 26019327 Free PMC article.
Efficacy and ototoxicity of different cyclodextrins in Niemann-Pick C disease.
Davidson CD, Fishman YI, Puskás I, Szemán J, Sohajda T, McCauliff LA, Sikora J, Storch J, Vanier MT, Szente L, Walkley SU, Dobrenis K. Davidson CD, et al. Among authors: sikora j. Ann Clin Transl Neurol. 2016 Apr 20;3(5):366-80. doi: 10.1002/acn3.306. eCollection 2016 May. Ann Clin Transl Neurol. 2016. PMID: 27231706 Free PMC article.
475 results