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The Journal of Clinical Investigation|February 4, 2021
Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystoniaNiccolò E Mencacci, Marisa M Brockmann, Jinye Dai, et al.Annals of Neurology|April 28, 2020
Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 PatientsAndreas Traschütz, Tommaso Schirinzi, Lucia Laugwitz, et al.Plos One|October 3, 2023
Establishing an online resource to facilitate global collaboration and inclusion of underrepresented populations: Experience from the MJFF Global Genetic Parkinson's Disease ProjectEva-Juliane Vollstedt, Harutyun Madoev, Anna Aasly, et al.Movement Disorders : Official Journal of the Movement Disorder Society|January 24, 2023
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD CohortEva-Juliane Vollstedt, Susen Schaake, Katja Lohmann, et al.Pageof 6