Kristína Kulcsárová

Presynaptic Dopaminergic Imaging Characterizes Patients with <scp>REM</scp> Sleep Behavior Disorder Due to Synucleinopathy

Dario Arnaldi, Pietro Mattioli, Stefano Raffa et al. · Annals of Neurology · 2024 · 45 citations · Full text

Medicine, Neurology, Neuroscience +17

WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia

Matěj Škorvánek, Irena Rektorová, Wim Mandemakers et al. · Parkinsonism & Related Disorders · 2021 · 29 citations · Full text

Life Sciences, Genetics, Neurology +12

Scoring Algorithm‐Based Genomic Testing in Dystonia: A Prospective Validation Study

Michael Zech, Robert Jech, Sylvia Boesch et al. · Movement Disorders · 2021 · 27 citations · Full text

Life Sciences, Genetics, Neurology +16

Clinically relevant copy-number variants in exome sequencing data of patients with dystonia

Michael Zech, Sylvia Boesch, Matěj Škorvánek et al. · Parkinsonism & Related Disorders · 2021 · 24 citations

Life Sciences, Genetics, Molecular Genetics +12

Dystonia Linked to <scp><i>EIF4A2</i></scp> Haploinsufficiency: A Disorder of Protein Translation Dysfunction

Philip Harrer, Matěj Škorvánek, Volker Kittke et al. · Movement Disorders · 2023 · 13 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17