Article
Genotype-Phenotype Relations for the Atypical Parkinsonism Genes: MDSGene Systematic Review.
Movement disorders : official journal of the Movement Disorder Society - 1 Jul 2021
Wittke Christina, Petkovic Sonja, Dobricic Valerija, Schaake Susen, Respondek Gesine, Weissbach Anne, Madoev Harutyun, Trinh Joanne, Vollstedt Eva-Juliane, Kuhnke Neele, Lohmann Katja, Dulovic Mahlow Marija, Marras Connie, König Inke R, Stamelou Maria, Bonifati Vincenzo, Lill Christina M, Kasten Meike, Huppertz Hans-Jürgen, Höglinger Günter, Klein Christine
Abstract excerpt
This Movement Disorder Society Genetic mutation database Systematic Review focuses on monogenic atypical parkinsonism with mutations in the ATP13A2, DCTN1, DNAJC6, FBXO7, SYNJ1, and VPS13C genes. We screened 673 citations and extracted genotypic and phenotypic data for 140 patients (73 families) from 77 publications. In an exploratory fashion, we applied an automated classification procedure via an ensemble of...
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