Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood

Author:

Vögtle F.-Nora,Brändl Björn,Larson Austin,Pendziwiat Manuela,Friederich Marisa W.,White Susan M.,Basinger Alice,Kücükköse Cansu,Muhle Hiltrud,Jähn Johanna A.,Keminer Oliver,Helbig Katherine L.,Delto Carolyn F.,Myketin Lisa,Mossmann Dirk,Burger Nils,Miyake Noriko,Burnett Audrey,van Baalen Andreas,Lovell Mark A.,Matsumoto Naomichi,Walsh Maie,Yu Hung-Chun,Shinde Deepali N.,Stephani Ulrich,Van Hove Johan L.K.,Müller Franz-Josef,Helbig Ingo

Funder

EuroEPINOMICS-Rare Epilepsy Syndrome (RES) consortium

University of Kiel

German Research Foundation

EuroEPINOMICS framework of the European Science Foundation

BMBF

Deutsche Forschungsgemeinschaft

Excellence Initiative of the German Federal & State Governments Schleswig-Holstein Cluster of Excellence

Emmy Noether-Programm of the Deutsche Forschungsgemeinschaft

Japan Agency for Medical Research and Development

Grants-in-Aid for Scientific Research (A and B) from the Japan Society for the Promotion of Science

Miracles for Mito

Summits for Samantha

Children’s Hospital Colorado Foundation

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

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