Clinico‐Genetic, Imaging and Molecular Delineation of COQ8A ‐Ataxia: A Multicenter Study of 59 Patients

Author:

Traschütz Andreas12ORCID,Schirinzi Tommaso34,Laugwitz Lucia56,Murray Nathan H.78,Bingman Craig A.78,Reich Selina12,Kern Jan6,Heinzmann Anna910,Vasco Gessica3,Bertini Enrico11,Zanni Ginevra11,Durr Alexandra910,Magri Stefania12,Taroni Franco12,Malandrini Alessandro13,Baets Jonathan141516,Jonghe Peter141516,Ridder Willem141516,Bereau Matthieu1718,Demuth Stephanie19,Ganos Christos20,Basak A. Nazli21,Hanagasi Hasmet22,Kurul Semra Hiz23,Bender Benjamin24,Schöls Ludger12,Grasshoff Ute5,Klopstock Thomas252627,Horvath Rita2829,Warrenburg Bart30,Burglen Lydie313233ORCID,Rougeot Christelle3134,Ewenczyk Claire91035,Koenig Michel36,Santorelli Filippo M.37ORCID,Anheim Mathieu383940,Munhoz Renato P.41,Haack Tobias5,Distelmaier Felix42,Pagliarini David J.78,Puccio Hélène43444546,Synofzik Matthis12

Affiliation:

1. Department of Neurodegenerative Diseases, Hertie‐Institute for Clinical Brain Research and Center of Neurology University of Tübingen Tübingen Germany

2. German Center for Neurodegenerative Diseases (DZNE) University of Tübingen Tübingen Germany

3. Neurorehabilitation Unit, Department of Neurosciences IRCCS Bambino Gesù Children Hospital Rome Italy

4. Department of Systems Medicine University of Roma Tor Vergata Rome Italy

5. Institute of Medical Genetics and Applied Genomics University of Tübingen Tübingen Germany

6. Department of Pediatric Neurology University Children’s Hospital Tübingen Germany

7. Morgridge Institute for Research Madison WI USA

8. Department of Biochemistry University of Wisconsin‐Madison Madison WI USA

9. Brain and Spine Institute (ICM) Sorbonne Université, Pitié‐Salpêtrière University Hospital Paris France

10. AP‐HP, Department of Genetics Pitié‐Salpêtrière University Hospital Paris France

11. Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neurosciences Bambino Gesù Children’s Hospital, IRCCS Rome Italy

12. Unit of Medical Genetics and Neurogenetics Fondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy

13. Department of Medicine, Surgery, and Neurosciences University of Siena, Unit of Neurology and Neurometabolic Disorders, Azienda Ospedaliera Universitaria Senese Siena Italy

14. Neurogenetics Group, University of Antwerp Antwerp Belgium

15. Institute Born‐Bunge University of Antwerp Antwerp Belgium

16. Department of Neurology Antwerp University Hospital Antwerp Belgium

17. Service de Neurologie, Université de Franche‐Comté, CHRU de Besançon Besançon France

18. Unité Extrapyramidale, Département des Neurosciences Cliniques HUG, Faculté de Médecine, Université de Genève Geneva Switzerland

19. Praxis für Humangenetik Erfurt Erfurt Germany

20. Department of Neurology Charité University Medicine Berlin Berlin Germany

21. Suna and Inan Kıraç Foundation, Neurodegeneration Research Laboratory KUTTAM, Koç University School of Medicine Istanbul Turkey

22. Behavioural Neurology and Movement Disorders Unit, Department of Neurology Istanbul Faculty of Medicine, Istanbul University Istanbul Turkey

23. Departments of Pediatric Neurology Dokuz Eylül University Faculty of Medicine İzmir Turkey

24. Department of Diagnostic and Interventional Neuroradiology University of Tübingen Tübingen Germany

25. Department of Neurology, Friedrich‐Baur‐Institute Ludwig‐Maximilians University of Munich Munich Germany

26. German Center for Neurodegenerative Diseases (DZNE) Munich Germany

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

28. Department of Clinical Neurosciences University of Cambridge Cambridge UK

29. Institute of Genetic Medicine Newcastle University Newcastle UK

30. Department of Neurology Radboud University Medical Centre, Donders Institute for Brain, Cognition and Behaviour Nijmegen The Netherlands

31. Centre de Référence Maladies Rares “Malformations et Maladies Congénitales du Cervelet” Paris‐Lyon‐Lille France

32. Département de Génétique et Embryologie Médicale APHP, GHUEP, Hôpital Armand Trousseau Paris France

33. Developmental Brain Disorders Laboratory Imagine Institute, INSERM UMR 1163 Paris France

34. Hôpital Femme Mère Enfant Service de Neuropédiatrie Bron France

35. Hôpitaux universitaires Pitié Salpêtrière ‐ Charles Foix, Service de Génétique Paris France

36. EA7402 Institut Universitaire de Recherche Clinique, and Laboratoire de Génétique Moléculaire CHU and Université de Montpellier Montpellier France

37. IRCCS Fondazione Stella Maris Pisa Italy

38. Service de Neurologie, Hôpitaux Universitaires de Strasbourg Hôpital de Hautepierre Strasbourg France

39. Fédération de Médecine Translationnelle de Strasbourg (FMTS) Université de Strasbourg Strasbourg France

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

41. Movement Disorders Centre, Toronto Western Hospital University of Toronto, Krembil Research Institute Toronto Ontario Canada

42. Department of General Pediatrics, Neonatology, and Pediatric Cardiology University Children's Hospital Duesseldorf, Medical Faculty, Heinrich Heine University Duesseldorf Germany

43. Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) Illkirch France

44. INSERM, U1258 Illkirch France

45. CNRS, UMR7104 IIllkirch France

46. Université de Strasbourg Strasbourg France

Funder

Fonds Wetenschappelijk Onderzoek

Newton Fund

Wellcome Trust

H2020 European Research Council

University of Kentucky

National Science Foundation

National Institutes of Health

Actelion Pharmaceuticals

Volkswagen Foundation

Deutsche Forschungsgemeinschaft

Eberhard Karls Universität Tübingen

Publisher

Wiley

Subject

Clinical Neurology,Neurology

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