Dominant mutations in ITPR3 cause Charcot‐Marie‐Tooth disease

Author:

Rönkkö Julius1ORCID,Molchanova Svetlana12,Revah‐Politi Anya34,Pereira Elaine M.5,Auranen Mari6,Toppila Jussi7,Kvist Jouni1,Ludwig Anastasia8,Neumann Julika910,Bultynck Geert11,Humblet‐Baron Stéphanie10,Liston Adrian91012ORCID,Paetau Anders13,Rivera Claudio814,Harms Matthew B.15,Tyynismaa Henna1816,Ylikallio Emil16ORCID

Affiliation:

1. Stem Cells and Metabolism Research Program Faculty of Medicine University of Helsinki Helsinki Finland

2. Molecular and Integrative Biosciences Research Program Faculty of Bio‐ and Environmental Sciences University of Helsinki Helsinki Finland

3. Institute for Genomic Medicine Columbia University Medical Center New York New York USA

4. Precision Genomics Laboratory Columbia University Irving Medical Center New York New York USA

5. Department of Pediatrics Columbia University Irving Medical Center New York New York USA

6. Clinical Neurosciences Neurology University of Helsinki and Helsinki University Hospital Helsinki Finland

7. Department of Clinical Neurophysiology Medical Imaging Center Helsinki University Central Hospital Helsinki Finland

8. Neuroscience Center Helsinki Institute of Life Science University of Helsinki Helsinki Finland

9. Department of Microbiology and Immunology Laboratory of Adaptive Immunity KU Leuven Leuven Belgium

10. VIB‐KU Leuven Center for Brain and Disease Research Leuven Belgium

11. Laboratory of Molecular and Cellular Signaling Department of Cellular and Molecular Medicine & Leuven Kanker Instituut KU Leuven Leuven Belgium

12. Laboratory of Lymphocyte Signalling and Development Babraham Institute Cambridge United Kingdom

13. Department of Pathology HUSLAB and University of Helsinki Helsinki Finland

14. Institut de Neurobiologie de la Méditerranée INMED UMR901 Marseille France

15. Department of Neurology Columbia University New York New York USA

16. Department of Medical and Clinical Genetics University of Helsinki Helsinki Finland

Funder

Helsingin ja Uudenmaan Sairaanhoitopiiri

Emil Aaltosen Säätiö

Academy of Finland

Helsingin Yliopisto

Horizon 2020 Framework Programme

National Institutes of Health

National Center for Advancing Translational Sciences

Publisher

Wiley

Subject

Clinical Neurology,General Neuroscience

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