Recessive <scp> <i>NUP54</i> </scp> Variants Underlie Early‐Onset Dystonia with Striatal Lesions-Reference-Cited by-同舟云学术

Recessive NUP54 Variants Underlie Early‐Onset Dystonia with Striatal Lesions

Published:2022-11-18 Issue:2 Volume:93 Page:330-335
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Annals of Neurology

Author:

Harrer Philip¹²,Schalk Audrey³,Shimura Masaru¹⁴,Baer Sarah⁵⁶,Calmels Nadège³⁷,Spitz Marie Aude⁵,Warde Marie‐Thérèse Abi⁵,Schaefer Elise⁸,Kittke Volker M.Sc¹²,Dincer Yasemin⁹¹⁰,Wagner Matias¹²^ORCID,Dzinovic Ivana¹²,Berutti Riccardo¹²,Sato Tatsuharu¹¹,Shirakawa Toshihiko¹¹,Okazaki Yasushi¹²^ORCID,Murayama Kei⁴¹²^ORCID,Oexle Konrad¹²^ORCID,Prokisch Holger¹²^ORCID,Mall Volker⁹¹³,Melčák Ivo¹⁴,Winkelmann Juliane¹²¹⁵¹⁶,Zech Michael¹²^ORCID

Affiliation:

1. Institute of Neurogenomics Helmholtz Zentrum München Munich Germany

2. Institute of Human Genetics, School of Medicine Technical University of Munich Munich Germany

3. Institut de génétique médicale d'Alsace (IGMA), Laboratoires de Diagnostic Génétique Hôpitaux universitaires de Strasbourg Strasbourg France

4. Center for Medical Genetics, Department of Metabolism Chiba Children's Hospital Chiba Japan

5. Department of Neuropediatrics, ERN EpiCare Hôpitaux Universitaires de Strasbourg Strasbourg France

6. Institute for Genetics and Molecular and Cellular Biology (IGBMC) Illkirch France

7. Laboratoire de Génétique Médicale, INSERM U1112 Institut de génétique médicale d'Alsace, CRBS Strasbourg France

8. Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace (IGMA) Hôpitaux Universitaires de Strasbourg Strasbourg France

9. Lehrstuhl für Sozialpädiatrie, Department of Pediatrics Technische Universität München Munich Germany

10. Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ) Martinsried Germany

11. Department of Pediatrics Nagasaki University Hospital Nagasaki Japan

12. Diagnostics and Therapeutic of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine Juntendo University Tokyo Japan

13. kbo‐Kinderzentrum München Munich Germany

14. Laboratory of Biochemical Pharmacology, Department of Pediatrics Emory School of Medicine Atlanta Georgia USA

15. Lehrstuhl für Neurogenetik Technische Universität München Munich Germany

16. Munich Cluster for Systems Neurology (SyNergy) Munich Germany

Funder

Technical University of Munich

Helmholtz Zentrum München

ASCRS Research Foundation

JSPS

Japan Agency for Medical Research and Development

Publisher

Wiley