Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy
TRAK1 中的有害变异会破坏线粒体运动并导致致命的脑病
期刊:Brain
影响因子:10.6
doi:10.1093/brain/awx002
Ortal Barel, May Christine V Malicdan, Bruria Ben-Zeev, Judith Kandel, Hadass Pri-Chen, Joshi Stephen, Inês G Castro, Jeremy Metz, Osama Atawa, Sharon Moshkovitz, Esther Ganelin, Iris Barshack, Sylvie Polak-Charcon, Dvora Nass, Dina Marek-Yagel, Ninette Amariglio, Nechama Shalva, Thierry Vilboux, Ca