Early‐Onset Parkinsonism Is a Manifestation of the PPP2R5D p. E200K Mutation-Reference-Cited by-同舟云学术

Early‐Onset Parkinsonism Is a Manifestation of the PPP2R5D p. E200K Mutation

Published:2020-08-22 Issue:5 Volume:88 Page:1028-1033
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol

Author:

Kim Christine Y.¹²^ORCID,Wirth Thomas³⁴⁵^ORCID,Hubsch Cécile⁶,Németh Andrea H.⁷,Okur Volkan⁸,Anheim Mathieu⁴⁵⁹,Drouot Nathalie⁵,Tranchant Christine⁴⁵⁹,Rudolf Gabrielle⁴⁵⁹^ORCID,Chelly Jamel⁴⁵¹⁰,Tatton‐Brown Katrina¹¹,Blauwendraat Cornelis¹²,Vonsattel Jean Paul G.¹³,Cortes Etty¹⁴,Alcalay Roy N.¹⁵¹⁶,Chung Wendy K.⁸¹⁷

Affiliation:

1. Department of Neurology Yale School of Medicine, Yale University New Haven CT USA

2. Center for Neuroepidemiology and Clinical Neurological Research, Yale School of Medicine Yale University New Haven CT USA

3. Unit of Functional Neurosurgery, National Hospital for Neurology and Neurosurgery, University College London Hospital London UK

4. Service de Neurologie, Hôpitaux Universitaires de Strasbourg Strasbourg France

5. Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM‐U964/CNRS‐UMR7104/Université de Strasbourg Illkirch‐Graffenstaden France

6. Fondation Ophtalmologique A. de Rothschild Paris France

7. Oxford University Hospitals NHS Trust and University of Oxford Oxford UK

8. Department of Pediatrics, College of Physicians and Surgeons Columbia University New York NY USA

9. Fédération de Médecine Translationnelle de Strasbourg Strasbourg France

10. Laboratoire de diagnostic génétique Hôpitaux Universitaires de Strasbourg Strasbourg France

11. St. George's University Hospitals NHS Foundation Trust London UK

12. Laboratory of Neurogenetics National Institute on Aging, National Institutes of Health Bethesda MD USA

13. Department of Pathology and Cell Biology Columbia University Medical Center and the New York Presbyterian Hospital New York NY USA

14. Department of Pathology Icahn School of Medicine at Mount Sinai New York NY USA

15. Department of Neurology, College of Physicians and Surgeons Columbia University New York NY USA

16. Taub Institute for Research on Alzheimer's Disease and the Aging Brain Columbia University New York NY USA

17. Department of Medicine, College of Physicians and Surgeons Columbia University New York NY USA

Funder

Institute of Cancer Research

Parkinson's Foundation

JPB Foundation

Association France Parkinson

Simons Foundation

National Institute on Aging

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ana.25863

Reference19 articles.

1. Phosphatase: PP2A structural importance, regulation and its aberrant expression in cancer

2. Large-scale discovery of novel genetic causes of developmental disorders

4. Mutations in the PP2A regulatory subunit B family genesPPP2R5B,PPP2R5CandPPP2R5Dcause human overgrowth

5. De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism

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