Jakub Sikora
Charles University(CZ)General University Hospital in Prague(CZ)AGH University of Krakow(PL)
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Cellular transport and secretion, Carbohydrate Chemistry and Synthesis, Cardiomyopathy and Myosin Studies, Trypanosoma species research and implications
Most-Cited Works
- → Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure(2009)163 cited
- → A Murine Niemann-Pick C1 I1061T Knock-In Model Recapitulates the Pathological Features of the Most Prevalent Human Disease Allele(2015)126 cited
- → Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome(2006)125 cited
- → Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty‐five Czech and Slovak patients. A multi‐approach study(2005)111 cited
- → Mutations in TMEM76 Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome)(2006)95 cited
- → Efficacy and ototoxicity of different cyclodextrins in Niemann–Pick C disease(2016)86 cited