FAHN/SPG35: a narrow phenotypic spectrum across disease classifications

Author:

Rattay Tim W12ORCID,Lindig Tobias3ORCID,Baets Jonathan456,Smets Katrien456,Deconinck Tine45,Söhn Anne S7,Hörtnagel Konstanze8,Eckstein Kathrin N129,Wiethoff Sarah12,Reichbauer Jennifer1,Döbler-Neumann Marion10,Krägeloh-Mann Ingeborg10,Auer-Grumbach Michaela11,Plecko Barbara12,Münchau Alexander13,Wilken Bernd14,Janauschek Marc15,Giese Anne-Katrin16,De Bleecker Jan L17,Ortibus Els18,Debyser Martine19,Lopez de Munain Adolfo2021,Pujol Aurora222324,Bassi Maria Teresa25,D’Angelo Maria Grazia26,De Jonghe Peter456,Züchner Stephan2728,Bauer Peter729,Schöls Ludger12,Schüle Rebecca12

Affiliation:

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

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

3. Department of Diagnostic and Interventional Neuroradiology, University Hospital Tübingen, Tübingen, Germany

4. Neurogenetics Group, University of Antwerp, Antwerp, Belgium

5. Institute Born-Bunge, University of Antwerp, Antwerp, Belgium

6. Department of Neurology, Antwerp University Hospital, Antwerp, Belgium

7. Department of Medical Genetics, Institute of Human Genetics, University of Tübingen, Tübingen, Germany

8. CeGaT GmbH, Tübingen, Germany

9. Department of Psychiatry, University of Tübingen, Tübingen, Germany

10. Department of Pediatric Neurology, University Children's Hospital, Tübingen, Germany

11. Department of Orthopaedics and Trauma-Surgery, Medical University Vienna, Vienna, Austria

12. Division of Child Neurology, University Childrens Hospital Zurich, Zurich, Switzerland

13. Department of Pediatric and Adult Movement Disorders and Neuropsychiatry, Institute of Neurogenetics, University of Lübeck, Germany

14. Department of Neuropediatrics, Klinikum Kassel, Germany

15. Department for Social Pediatrics, Kinderhospital Osnabrück, Germany

16. Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA

17. Department of Neurology, University Hospital Ghent, Ghent, Belgium

18. Department of Development and Regeneration, KU Leuven, Leuven, Belgium

19. Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium

20. CIBERNED, Center for Networked Biomedical Research into Neurodegenerative Diseases, Madrid, Spain

21. Neuroscience Area, Institute Biodonostia, and Department of Neurosciences, University of Basque Country EHU-UPV, San Sebastián, Spain

22. Neurometabolic Diseases Laboratory, Institut d’Investigació Biomedica de Bellvitge IDIBELL, Hospital Duran i Reynals, Barcelona, 08908, Spain

23. Centre for Biomedical Research on Rare Diseases (CIBERER), Institute Carlos III, Madrid, Spain

24. Catalan Institution for Research and Advanced Studies (ICREA), Barcelona, Spain

25. Scientific Institute IRCCS E. Medea, Laboratory of Molecular Biology, 23842 Bosisio Parini, Lecco, Italy

26. Scientific Institute IRCCS E. Medea, Neuromuscular Unit, 23842 Bosisio Parini , Lecco, Italy

27. John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, FL33136 Miami, USA

28. Dr. John T. Macdonald Foundation, Department of Human Genetics, FL33136 Miami, USA

29. CENTOGENE AG, Rostock, Germany

Funder

BMBF

Italian ministry of Health

7th European Community Framework Programme

NEUROMICS

Marie Curie International Outgoing Fellowship

Horizon 2020 research and innovation programme

National Institute of Health

NIH

5XMille Funds

German HSP-Selbsthilfegruppe e.V.

Spastic Paraplegia Foundation

Alliance for Treatment in HSP and PLS

ISCIII

Fondo Europeo de Desarrollo Regional

FEDER

Unión Europea, una manera de hacer Europa’

‘La Marató de TV3’ Foundation

CIBER on Rare Diseases

CIBERER

University of Tübingen

Clinician Scientist Program

Ministry of Science, Research

Arts of Baden-Württemberg

European Social Fund

ESF

Baden-Württemberg

Austrian Science Fund

FWF

Jubiläumsfonds der Oesterreichischen Nationalbank

OeNB

Senior Clinical Researcher mandate of the Research Fund - Flanders

FWO

Publisher

Oxford University Press (OUP)

Subject

Neurology (clinical)

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