Matěj Škorvánek

Monogenic variants in dystonia: an exome-wide sequencing study

Michael Zech, Robert Jech, Sylvia Boesch et al. · The Lancet Neurology · 2020 · 206 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +3

Differences in <scp>MDS</scp>‐<scp>UPDRS</scp> Scores Based on Hoehn and Yahr Stage and Disease Duration

Matěj Škorvánek, Pablo Martínez‐Martín, Norbert Kovács et al. · Movement Disorders Clinical Practice · 2017 · 128 citations · Full text

The associations between fatigue, apathy, and depression in Parkinson's disease

Matěj Škorvánek, Zuzana Gdovinová, Jaroslav Rosenberger et al. · Acta Neurologica Scandinavica · 2014 · 118 citations

<i>De novo</i> variants in neurodevelopmental disorders—experiences from a tertiary care center

Theresa Brunet, Robert Jech, Melanie Brügger et al. · Clinical Genetics · 2021 · 111 citations · Full text

Neurogenomics, Brain Development, Genetics +28

Loss‐of‐Function Variants in <scp>HOPS</scp> Complex Genes <scp><i>VPS16</i></scp> and <scp><i>VPS41</i></scp> Cause Early Onset Dystonia Associated with Lysosomal Abnormalities

Dora Steel, Michael Zech, Chen Zhao et al. · Annals of Neurology · 2020 · 106 citations · Full text