Publikace
- Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia2019 | 1. lékařská fakulta
- A unique de novo gain-of-function variant in CAMK4 associated with intellectual disability and hyperkinetic movement disorder2018 | 1. lékařská fakulta
- Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing2017 | 1. lékařská fakulta
- SOXopathies and dystonia: Consolidation of a recurrent association2024 | 1. lékařská fakulta
- Predictors of whole exome sequencing in dystonic cerebral palsy and cerebral palsy-like disorders2023 | 1. lékařská fakulta
- Effect of Intra-arrest Transport, Extracorporeal Cardiopulmonary Resuscitation, and Immediate Invasive Assessment and Treatment on Functional Neurologic Outcome in Refractory Out-of-Hospital Cardiac Arrest: A Randomized Clinical Trial2022 | 1. lékařská fakulta, Ústřední knihovna, Matematicko-fyzikální fakulta
- WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia2022 | 1. lékařská fakulta
- Genetic overlap between dystonia and other neurologic disorders: A study of 1,100 exomes2022 | 1. lékařská fakulta
- Restoration of functional network state towards more physiological condition as the correlate of clinical effects of pallidal deep brain stimulation in dystonia2022 | 1. lékařská fakulta
- Atypical presentations of DYT1 dystonia with acute craniocervical onset2021 | 1. lékařská fakulta, 2. lékařská fakulta
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