Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder
Source
Genetics in medicine - ISSN 1530-0366-24:7 (2022) p. 1583-1591
Shared brain transcriptomic signature in TDP-43 type A FTLD patients with or without GRN mutations
Source
Brain - ISSN 0006-8950-145:7 (2022) p. 2472-2485
Induced pluripotent stem cell-derived motor neurons of CMT type 2 patients reveal progressive mitochondrial dysfunction
Source
Brain - ISSN 0006-8950-144:8 (2021) p. 2471-2485
The role of endothelial autocrine NRG1/ERBB4 signaling in cardiac remodeling
Source
American journal of physiology : heart and circulatory physiology - ISSN 0363-6135-319:2 (2020) p. H443-H455
Transcriptional dysregulation by a nucleus-localized aminoacyl-tRNA synthetase associated with Charcot-Marie-Tooth neuropathy
Source
Nature communications - ISSN 2041-1723-10 (2019) p.