Viktor Stránecký

Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver

Evita van de Steeg, Viktor Stránecký, Hana Hartmannová et al. · Journal of Clinical Investigation · 2012 · 379 citations · Full text

Drug Conjugates, Genetics, Human Rotor Syndrome +25

Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis

Lenka Nosková, Viktor Stránecký, Hana Hartmannová et al. · The American Journal of Human Genetics · 2011 · 261 citations · Full text

Linkage Mapping, Neurogenomics, Genetics +21

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

Alena Čížková, Viktor Stránecký, Johannes A. Mayr et al. · Nature Genetics · 2008 · 197 citations

Mitochondrial Myopathy, Neonatal Mitochondrial Encephalocardiomyopathy, Mitochondrial Biogenesis +8

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

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

Nikhita Bolar, Christelle Golzio, Martina Živná et al. · The American Journal of Human Genetics · 2016 · 152 citations · Full text