Ján Necpál

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

<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

Efficacy of Caffeine in <scp>ADCY5</scp>‐Related Dyskinesia: A Retrospective Study

Aurélie Méneret, Shekeeb S. Mohammad, Laura Cif et al. · Movement Disorders · 2022 · 46 citations

Blood DNA methylation provides an accurate biomarker of<i>KMT2B</i>-related dystonia and predicts onset

Nazanin Mirza‐Schreiber, Michael Zech, Rory Wilson et al. · Brain · 2021 · 43 citations · Full text