Lenka Nosková

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 · 385 citations · Full text

Life Sciences, Biochemistry, Genetics +17

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 · 262 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

Alena Čížková, Viktor Stránecký, Johannes A. Mayr et al. · Nature Genetics · 2008 · 200 citations

Life Sciences, Genetics, Neuroscience +16

Mutations in TMEM76 Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome)

Martin Hřebı́ček, Lenka Mrázová, Volkan Seyrantepe et al. · The American Journal of Human Genetics · 2006 · 96 citations · Full text

Life Sciences, Genetics, Molecular Genetics +5

Mutations in ANTXR1 Cause GAPO Syndrome

Viktor Stránecký, Alexander Hoischen, Hana Hartmannová et al. · The American Journal of Human Genetics · 2013 · 92 citations · Full text

Life Sciences, Genetics, Molecular Genetics +3