Childhood‐Onset Chorea Caused by a Recurrent De Novo DRD2 Variant-Reference-Cited by-同舟云学术

Childhood‐Onset Chorea Caused by a Recurrent De Novo DRD2 Variant

Published:2021-06 Issue:6 Volume:36 Page:1472-1473
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Mov Disord

Author:

Mencacci Niccolò E.¹^ORCID,Steel Dora²³,Magrinelli Francesca⁴⁵^ORCID,Hsu Jerry¹,Keller Sarmiento Ignacio Juan¹,Troncoso Schifferli Mónica⁶,Muñoz Daniela⁶,Stefanis Leonidas⁷,Lubbe Steven J.¹,Wood Nicholas W.⁴,Kurian Manju A.²³^ORCID,Stamelou Maria⁷⁸⁹^ORCID

Affiliation:

1. Ken and Ruth Davee Department of Neurology and Simpson Querrey Center for Neurogenetics Northwestern University, Feinberg School of Medicine Chicago Illinois USA

2. Molecular Neurosciences, Developmental Neurosciences University College London Great Ormond Street Institute of Child Health London United Kingdom

3. Department of Neurology Great Ormond Street Hospital London United Kingdom

4. Department of Clinical and Movement Neurosciences University College London Queen Square Institute of Neurology, University College London London United Kingdom

5. Department of Neurosciences, Biomedicine and Movement Sciences University of Verona Verona Italy

6. Child Neurology Service, Clinical Hospital San Borja Arriarán Faculty of Medicine, University of Chile Santiago Chile

7. 1st Neurology Clinic, Eginition Hospital National and Kapodistrian University of Athens, Medical School Athens Greece

8. Parkinson's Disease and Movement Disorders Department HYGEIA Hospital Athens Greece

9. School of medicine European University of Cyprus Nicosia Cyprus

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mds.28634

Reference4 articles.

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

3. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

4. Structure of a D2 dopamine receptor–G-protein complex in a lipid membrane

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1. Exploring the Genetic Landscape of Chorea in Infancy and Early Childhood: Implications for Diagnosis and Treatment;Current Issues in Molecular Biology;2024-06-06

2. Comparison of the function of two novel human dopamine D2 receptor variants identifies a likely mechanism for their pathogenicity;Biochemical Pharmacology;2024-04

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

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

5. Gait Abnormalities and Aberrant D2 Receptor Expression and Signaling in Mice Carrying the Human Pathogenic MutationDRD2^I212F;Molecular Pharmacology;2022-12-01