A Gain‐of‐Function Variant in Dopamine D2 Receptor and Progressive Chorea and Dystonia Phenotype

Author:

Weijden Marlous C.M.12ORCID,Rodriguez‐Contreras Dayana3,Delnooz Cathérine C.S.4ORCID,Robinson Brooks G.5ORCID,Condon Alec F.5ORCID,Kielhold Michelle L.3ORCID,Stormezand Gilles N.6ORCID,Ma Kai Yu1ORCID,Dufke Claudia7ORCID,Williams John T.5ORCID,Neve Kim A.38ORCID,Tijssen Marina A.J.29ORCID,Verbeek Dineke S.12ORCID

Affiliation:

1. Department of Genetics University Medical Center Groningen Groningen the Netherlands

2. Expertise Center Movement Disorders Groningen University Medical Center Groningen Groningen the Netherlands

3. Department of Behavioral Neuroscience Oregon Health & Science University Portland Oregon USA

4. Department of Neurology Máxima Medical Center Veldhoven the Netherlands

5. Vollum Institute Oregon Health & Science University Portland Oregon USA

6. Department of Nuclear Medicine and Molecular Imaging University Medical Center Groningen Groningen the Netherlands

7. Institute of Medical Genetics and Applied Genomics University Hospital Tuebingen Tuebingen Germany

8. Research Service Virginia Portland Health Care System Portland Oregon USA

9. Department of Neurology University of Groningen, University Medical Center Groningen Groningen the Netherlands

Funder

Dystonia Medical Research Foundation

European Commission

Fonds Psychische Gezondheid

Rijksuniversiteit Groningen

Universitair Medisch Centrum Groningen

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Cited by 20 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. Genetics and Pathogenesis of Dystonia;Annual Review of Pathology: Mechanisms of Disease;2024-01-24

2. Differential diagnosis of chorea (guidelines of the German Neurological Society);Neurological Research and Practice;2023-11-23

3. Genetic analysis of dystonia-related genes in Parkinson's disease;Frontiers in Aging Neuroscience;2023-05-26

4. Loss-of-Function Variants in DRD1 in Infantile Parkinsonism-Dystonia;Cells;2023-03-30

5. Dystonia genes and their biological pathways;International Review of Neurobiology;2023

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