A Homozygous Missense Variant in PPP1R1B/DARPP‐32 Is Associated With Generalized Complex Dystonia

Author:

Khan Amjad123,Molitor Anne12,Mayeur Sylvain124,Zhang Gaoqun5,Rinaldi Bruno6,Lannes Béatrice24,Lhermitte Benoît24,Umair Muhammad78,Arold Stefan T.910,Friant Sylvie6,Rastegar Sepand5,Anheim Mathieu21112,Bahram Seiamak1213,Carapito Raphael1213ORCID

Affiliation:

1. Laboratoire d'ImmunoRhumatologie Moléculaire, Plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo‐Universitaire OMICARE, ITI TRANSPLANTEX NG Université de Strasbourg Strasbourg France

2. Strasbourg Federation of Translational Medicine (FMTS) Strasbourg University Strasbourg France

3. Faculty of Science, Department of Biological Sciences (Zoology) University of Lakki Marwat Lakki Marwat Khyber Pakhtunkhwa Pakistan

4. Department of Pathology Strasbourg University Hospitals Strasbourg France

5. Institute of Biological and Chemical Systems‐Biological Information Processing (IBCS‐BIP) Karlsruhe Institute of Technology (KIT) Karlsruhe Germany

6. Laboratoire de Génétique Moléculaire, Génomique, Microbiologie GMGM UMR7156 CNRS/Université de Strasbourg, IPCB Strasbourg France

7. Medical Genomics Research Department, King Abdullah International Research Center (KAIMRC) King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs Riyadh Saudi Arabia

8. Department of Life Sciences, School of Science University of Management and Technology (UMT) Lahore Pakistan

9. King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Division of Biological and Environmental Sciences and Engineering (BESE) Thuwal Saudi Arabia

10. Centre de Biologie Structurale, CNRS, INSERM Université de Montpellier Montpellier France

11. Department of Neurology Strasbourg University Hospitals Strasbourg France

12. INSERM UMR_S 964; CNRS UMR 7104 University of Strasbourg Illkirch‐Graffenstaden France

13. Service d'Immunologie Biologique, Plateau Technique de Biologie, Pôle de Biologie, Nouvel Hôpital Civil Hôpitaux Universitaires de Strasbourg Strasbourg France

Publisher

Wiley

Subject

Neurology (clinical),Neurology

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