Dominant mutations in ITPR3 cause Charcot‐Marie‐Tooth disease

Julius Rönkkö (1) , Svetlana Molchanova (1) , Anya Revah‐politi (2) , Elaine Pereira (2) , Mari Auranen (1) , Jussi Toppila (1) , Jouni Kvist , Anastasia Ludwig (1) , Julika Neumann , Geert Bultynck , Stéphanie Humblet‐baron , Adrian Liston , Anders Paetau , Claudio Rivera (3, 1) , Matthew Harms , Henna Tyynismaa , Emil Ylikallio

1 Helsingin yliopisto = Helsingfors universitet = University of Helsinki
2 CUIMC - Columbia University Irving Medical Center
3 INMED - INSERM U1249 - Institut de Neurobiologie de la Méditerranée [Aix-Marseille Université]

Domains: Life Sciences [q-bio]; Neurons and Cognition [q-bio.NC]

Julius Rönkkö, Svetlana Molchanova, Anya Revah‐politi, Elaine Pereira, Mari Auranen, et al.. Dominant mutations in ITPR3 cause Charcot‐Marie‐Tooth disease. Annals of Clinical and Translational Neurology, 2020, 7 (10), pp.1962-1972. ⟨10.1002/acn3.51190⟩. ⟨hal-02964027⟩