HeterozygousPNPT1Variants Cause Spinocerebellar Ataxia Type 25

Author:

Barbier Mathieu1ORCID,Bahlo Melanie23ORCID,Pennisi Alessandra45ORCID,Jacoupy Maxime1ORCID,Tankard Rick M.23ORCID,Ewenczyk Claire1,Davies Kayli C.67,Lino‐Coulon Patricia1ORCID,Colace Claire1ORCID,Rafehi Haloom23ORCID,Auger Nicolas18,Ansell Brendan R. E.23ORCID,van der Stelt Ivo239,Howell Katherine B.71011ORCID,Coutelier Marie18,Amor David J.711ORCID,Mundwiller Emeline1,Guillot‐Noël Lena18,Storey Elsdon12,Gardner R. J. McKinlay13,Wallis Mathew J.1415ORCID,Brusco Alfredo16ORCID,Corti Olga1ORCID,Rötig Agnès45ORCID,Leventer Richard J.71011ORCID,Brice Alexis1ORCID,Delatycki Martin B.6717,Stevanin Giovanni18ORCID,Lockhart Paul J.67ORCID,Durr Alexandra1ORCID

Affiliation:

1. Sorbonne Université, Institut du Cerveau—Paris Brain Institute—ICM, Inserm, CNRS, APHP Hôpital de la Pitié Salpêtrière Paris France

2. Population Health and Immunity Division The Walter and Eliza Hall Institute of Medical Research Melbourne Victoria Australia

3. Department of Medical Biology University of Melbourne Melbourne Victoria Australia

4. Necker Hospital, APHP, Reference Center for Mitochondrial Diseases, Genetics Department, Institut Imagine University of Paris Paris France

5. Inserm UMR_S1163 Institut Imagine Paris France

6. Bruce Lefroy Centre Murdoch Children's Research Institute Melbourne Victoria Australia

7. Department of Paediatrics University of Melbourne Melbourne Victoria Australia

8. Paris Sciences Lettres Research University, EPHE Paris France

9. Donders Centre for Neuroscience, Faculty of Science Radboud University Nijmegen The Netherlands

10. Department of Neurology Royal Children's Hospital Melbourne Victoria Australia

11. Murdoch Children's Research Institute Melbourne Victoria Australia

12. School of Public Health and Preventive Medicine Monash University Melbourne Victoria Australia

13. Clinical Genetics Group University of Otago Dunedin New Zealand

14. Clinical Genetics Service, Austin Health, Melbourne, Australia; Department of Medicine University of Melbourne, Austin Health Melbourne Australia

15. School of Medicine and Menzies Institute for Medical Research University of Tasmania Hobart Tasmania Australia

16. Department of Medical Sciences University of Torino Torino Italy

17. Victorian Clinical Genetics Service Melbourne Australia

Funder

Horizon 2020 Framework Programme

National Health and Medical Research Council

Fondation Maladies Rares

Agence Nationale de la Recherche

Murdoch Children's Research Institute

Publisher

Wiley

Subject

Neurology (clinical),Neurology

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