1. Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia. Issue 3 (March 2016) Authors: Galea, Charles A.; Huq, Aamira; Lockhart, Paul J.; Tai, Geneieve; Corben, Louise A.; Yiu, Eppie M.; Gurrin, Lyle C.; Lynch, David R.; Gelbard, Sarah; Durr, Alexandra; Pousset, Francoise; Parkinson, Michael; Labrum, Robyn; Giunti, Paola; Perlman, Susan L.; Delatycki, Martin B.; Evans‐Galea, Margue... Journal: Annals of neurology Issue: Volume 79:Issue 3(2016:Mar.) Page Start: 485 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases. Issue 6 (1st April 2021) Authors: Poole, Olivia V.; Pizzamiglio, Chiara; Murphy, David; Falabella, Micol; Macken, William L.; Bugiardini, Enrico; Woodward, Cathy E.; Labrum, Robyn; Efthymiou, Stephanie; Salpietro, Vincenzo; Chelban, Viorica; Kaiyrzhanov, Rauan; Maroofian, Reza; Amato, Anthony A.; Gregory, Allison; Hayflick, Susan... Other Names: Alkhawaja Issam investigator.; Banu Selina investigator.; Bonsignore Maria investigator.; Breza Marianthi investigator.; Di Rosa Gabriella investigator.; Heidari Morteza investigator.; Koutsis Georgios investigator.; van den Maagdenberg Arn M.J.M. investigator.; Macaya Alfons investigator.; Münch... Journal: Annals of neurology Issue: Volume 89:Issue 6(2021) Page Start: 1240 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗