Publikace
- MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype-phenotype correlations and validation of high-resolution melting analysis for mutation scanning2016 | 1. lékařská fakulta
- APOE epsilon4, potenciální modulační faktor Rettova syndromu2010 | 1. lékařská fakulta
- Rettův syndrom2009 | 1. lékařská fakulta
- Brain iron accumulation in Wilson's disease: A longitudinal imaging case study during anticopper treatment using 7.0T MRI and transcranial sonography2018 | 1. lékařská fakulta
- Diagnostic exome sequencing in early-onset Parkinson's disease confirms VPS13C as a rare cause of autosomal-recessive Parkinson's disease2018 | 1. lékařská fakulta
- Novel CDKL5 Mutations in Czech Patients with Phenotypes of Atypical Rett Syndrome and Early-Onset Epileptic Encephalopathy2016 | 1. lékařská fakulta, Ústřední knihovna
- Comparison of transcranial sonography-magnetic resonance fusion imaging in Wilson's and early-onset Parkinson's diseases2016 | 1. lékařská fakulta
- Parkin (PARK 2) Mutations Are Rare in Czech Patients with Early-Onset Parkinson's Disease2014 | 1. lékařská fakulta
- Wilsonova nemoc2013 | 1. lékařská fakulta
- Rett syndrome2013 | 1. lékařská fakulta
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