Litcius/Paper detail

AOPEP variants as a novel cause of recessive dystonia: Generalized dystonia and dystonia-parkinsonism

Barbara Garavaglia, Sadeq Vallian, Luigi Romito, Giulia Straccia, Marianna Capecci, Federica Invernizzi, Elisa Andrenelli, Arezu Kazemi, Sylvia Boesch, Robert Kopajtich, Nahid Olfati, Mohammad Shariati, Ali Shoeibi, Ariane Sadr‐Nabavi, Holger Prokisch, Juliane Winkelmann, Michael Zech

2022Parkinsonism & Related Disorders16 citationsDOI

Topics & Concepts

DystoniaParkinsonismGeneticsMissense mutationAlleleMedicineNonsenseConsanguinityCompound heterozygosityPhenotypeBiologyGenePsychiatryDiseaseInternal medicineHereditary Neurological DisordersGenomics and Rare DiseasesNeurological diseases and metabolism