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

Matěj Škorvánek, Irena Rektorová, Wim Mandemakers, Matias Wagner, Robert Steinfeld, Laura Orec, Vladimír Haň, Petra Pavelekova, Alexandra Lacková, Kristína Kulcsárová, Miriam Ostrožovičová, Zuzana Gdovinová, Barbara Plecko, Theresa Brunet, Riccardo Berutti, Demy J.S. Kuipers, Valerie Boumeester, Petra Havránková, Marina A.J. Tijssen, Rauan Kaiyrzhanov, Mie Rizig, Henry Houlden, Juliane Winkelmann, Vincenzo Bonifati, Michael Zech, Robert Jech

2021Parkinsonism & Related Disorders29 citationsDOIOpen Access PDF

Topics & Concepts

ParkinsonismAtaxiaMyoclonusDystoniaMissense mutationGeneticsPhenotypeCompound heterozygosityAge of onsetAlleleMedicineBiologyNeuroscienceInternal medicineDiseaseGeneMitochondrial Function and PathologyGenomics and Rare DiseasesGenetic Neurodegenerative Diseases