1. A Mitochondrial tRNA Mutation Causes Axonal CMT in a Large Venezuelan Family. Issue 4 (29th August 2020) Authors: Fay, Alexander; Garcia, Yngo; Margeta, Marta; Maharjan, Sunita; Jürgensen, Claudia; Briceño, Jose; Garcia, Mariaelena; Yin, Sitao; Bassaganyas, Laia; McMahon, Thomas; Hou, Ya‐Ming; Fu, Ying‐Hui; Ptáček, Louis J. Journal: Annals of neurology Issue: Volume 88:Issue 4(2020) Page Start: 830 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Andersen–Tawil syndrome: Report of 3 novel mutations and high risk of symptomatic cardiac involvement. Issue 2 (19th November 2014) Authors: Kostera‐Pruszczyk, Anna; Potulska‐Chromik, Anna; Pruszczyk, Piotr; Bieganowska, Katarzyna; Miszczak‐Knecht, Maria; Bienias, Piotr; szczałuba, krzysztof; Lee, Hsien‐Yang; Quinn, Emily; Ploski, Rafal; Kaminska, Anna; Ptáček, Louis J. Journal: Muscle & nerve Issue: Volume 51:Issue 2(2015:Feb.) Page Start: 192 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Guidelines for Genome-Scale Analysis of Biological Rhythms. (October 2017) Authors: Hughes, Michael E.; Abruzzi, Katherine C.; Allada, Ravi; Anafi, Ron; Arpat, Alaaddin Bulak; Asher, Gad; Baldi, Pierre; de Bekker, Charissa; Bell-Pedersen, Deborah; Blau, Justin; Brown, Steve; Ceriani, M. Fernanda; Chen, Zheng; Chiu, Joanna C.; Cox, Juergen; Crowell, Alexander M.; DeBruyne, Jason ... Journal: Journal of biological rhythms Issue: Volume 32:Number 5(2017:Oct.) Page Start: 380 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Solving the mystery of human sleep schedules one mutation at a time. (September 2013) Authors: Hallows, William C.; Ptáček, Louis J.; Fu, Ying-Hui Journal: Critical reviews in biochemistry and molecular biology Issue: Volume 48:Number 5(2013:Sep./Oct.) Page Start: 465 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗