Jakub Sikora

Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure

Martina Živná, Helena Hůlková, Marie Matignon et al. · The American Journal of Human Genetics · 2009 · 163 citations · Full text

Hypertension, Renal Function, Medicine +10

A Murine Niemann-Pick C1 I1061T Knock-In Model Recapitulates the Pathological Features of the Most Prevalent Human Disease Allele

Maria Praggastis, Brett A. Tortelli, Jessie Zhang et al. · Journal of Neuroscience · 2015 · 126 citations · Full text

Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome

Petr Vyleťal, Martina Kublová, Marie Hubálek Kalbáčová et al. · Kidney International · 2006 · 123 citations

Urology, Mendelian Disorder, Disease Mechanism +12

Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty‐five Czech and Slovak patients. A multi‐approach study

Hana Pavlú-Pereira, Befekadu Asfaw, H. Poupčtová et al. · Journal of Inherited Metabolic Disease · 2005 · 110 citations

Mutations in TMEM76 Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome)

Martin Hřebı́ček, Lenka Mrázová, Volkan Seyrantepe et al. · The American Journal of Human Genetics · 2006 · 95 citations · Full text

Sanfilippo C Syndrome, Autoimmune Disease, Genetic Disorder +6