RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia

Author:

Beijer Danique123ORCID,Dohrn Maike F.34,De Winter Jonathan125,Fazal Sarah3,Cortese Andrea67ORCID,Stojkovic Tanya8,Fernández‐Eulate Gorka89ORCID,Remiche Gauthier10,Gentile Mattia11,Van Coster Rudy12,Dufke Claudia1314,Synofzik Matthis1516ORCID,De Jonghe Peter5,Züchner Stephan3,Baets Jonathan125

Affiliation:

1. Translational Neurosciences Faculty of Medicine and Health Sciences University of Antwerp Antwerp Belgium

2. Laboratory of Neuromuscular Pathology Institute Born‐Bunge University of Antwerp Antwerp Belgium

3. Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics University of Miami Miller School of Medicine Miami Florida USA

4. Department of Neurology Medical Faculty RWTH Aachen University Aachen Germany

5. Neuromuscular Reference Center Department of Neurology Antwerp University Hospital Antwerp Belgium

6. Department of Neuromuscular Disease UCL Queen Square Institute of Neurology and The National Hospital for Neurology London UK

7. Department of Brain and Behavioral Sciences University of Pavia Pavia Italy

8. Reference Center for Neuromuscular Diseases Neuro‐myology Department Pitié‐Salpêtrière University Hospital APHP Paris France

9. Neuro‐Metabolism Unit Reference Center for Lysosomal Diseases Neurology Department Pitié‐Salpêtrière University Hospital APHP Paris France

10. Centre de Référence Neuromusculaire Department of Neurology Hôpital Erasme Université Libre de Bruxelles Brussels Belgium

11. Medical Genetic Unit Department of Reproductive Pregnancy Risk ASL BARI Bari Italy

12. Division of Pediatric Neurology and Metabolism Department of Pediatrics University Hospital Ghent Ghent Belgium

13. Institute of Medical Genetics and Applied Genomics University of Tuebingen Tuebingen Germany

14. Center for Rare Diseases University of Tuebingen Tuebingen Germany

15. Division Translational Genomics of Neurodegenerative Diseases Hertie‐Institute for Clinical Brain Research and Center of Neurology University of Tübingen Tübingen Germany

16. German Center for Neurodegenerative Diseases (DZNE) Tübingen Germany

Funder

Medical Research Council

Universiteit Antwerpen

Deutsche Forschungsgemeinschaft

National Institute of Neurological Disorders and Stroke

Horizon 2020 Framework Programme

Fondazione Cariplo

Publisher

Wiley

Subject

Neurology (clinical),Neurology

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