Pathogenic mechanisms underlying X-linked Charcot-Marie-Tooth neuropathy (CMTX6) in patients with a pyruvate dehydrogenase kinase 3 mutation

by Gonzalo Perez-Siles, Carolyn Ly, Adrienne Grant, Alexander P. Drew, Eppie M. Yiu, Monique M. Ryan, David T. Chuang, Shih-Chia Tso, Garth A. Nicholson, Marina L. Kennerson
Published 2016-10-01

Modelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCs

by Gonzalo Perez-Siles, Anthony Cutrupi, Melina Ellis, Jakob Kuriakose, Sharon La Fontaine, Di Mao, Motonari Uesugi, Reinaldo I. Takata, Carlos E. Speck-Martins, Garth Nicholson, Marina L. Kennerson, Annemieke Aartsma-Rus, James Dowling, Maaike van Putten
Published 2020-02-01