David Staněk

UBTF Mutation Causes Complex Phenotype of Neurodegeneration and Severe Epilepsy in Childhood

Petra Laššuthová, Katalin Štěrbová, Jana Haberlová et al. · Neuropediatrics · 2018 · 28 citations

Life Sciences, Genetics, Molecular Genetics +17

<i>STRC</i> Gene Mutations, Mainly Large Deletions, are a Very Important Cause of Early-Onset Hereditary Hearing Loss in the Czech Population

Simona Poisson Marková, Dana Šafka Brožková, Petra Laššuthová et al. · Genetic Testing and Molecular Biomarkers · 2018 · 26 citations

Life Sciences, Genetics, Molecular Genetics +15

Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life

David Staněk, Petra Laššuthová, Katalin Štěrbová et al. · Orphanet Journal of Rare Diseases · 2018 · 26 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Biallelic variants in the SORD gene are one of the most common causes of hereditary neuropathy among Czech patients

Petra Laššuthová, Radim Mazanec, David Staněk et al. · Scientific Reports · 2021 · 26 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

GATOR1-related focal cortical dysplasia in epilepsy surgery patients and their families: A possible gradient in severity?

Barbora Beňová, Maurits Sanders, Anna Uhrová Mészárosová et al. · European Journal of Paediatric Neurology · 2021 · 25 citations · Full text

Medicine, Neurology, Neuroscience +14