1. Biallelic Loss-of-Function Variants in AIMP1 Cause a Rare Neurodegenerative Disease. (February 2019) Authors: Accogli, Andrea; Guerrero, Kether; D'Agostino, Maria Daniela; Tran, Luan; Cieuta-Walti, Cécile; Thiffault, Isabelle; Chénier, Sébastien; Schwartzentruber, Jeremy; Majewski, Jacek; Bernard, Geneviève Journal: Journal of child neurology Issue: Volume 34:Number 2(2019:Feb.) Page Start: 74 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Diffuse hypomyelination is not obligate for POLR3-related disorders. (26th April 2016) Authors: La Piana, Roberta; Cayami, Ferdy K.; Tran, Luan T.; Guerrero, Kether; van Spaendonk, Rosalina; Õunap, Katrin; Pajusalu, Sander; Haack, Tobias; Wassmer, Evangeline; Timmann, Dagmar; Mierzewska, Hanna; Poll-Thé, Bwee T.; Patel, Chirag; Cox, Helen; Atik, Tahir; Onay, Huseyin; Ozkınay, Ferda; Vanderv... Journal: Neurology Issue: Volume 86:Number 17(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Dystonia in RNA Polymerase III‐Related Leukodystrophy. Issue 2 (9th January 2019) Authors: Al Yazidi, Ghalia; Tran, Luan T.; Guerrero, Kether; Vanderver, Adeline; Schiffmann, Raphael; Wolf, Nicole I.; Chouinard, Sylvain; Bernard, Geneviève Journal: Movement disorders clinical practice Issue: Volume 6:Issue 2(2019) Page Start: 155 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Expanding the phenotypic and molecular spectrum of RNA polymerase III–related leukodystrophy. (June 2020) Authors: Perrier, Stefanie; Gauquelin, Laurence; Fallet-Bianco, Catherine; Dishop, Megan K.; Michell-Robinson, Mackenzie A.; Tran, Luan T.; Guerrero, Kether; Darbelli, Lama; Srour, Myriam; Petrecca, Kevin; Renaud, Deborah L.; Saito, Michael; Cohen, Seth; Leiz, Steffen; Alhaddad, Bader; Haack, Tobias B.; T... Journal: Neurology Issue: Volume 6:Number 3(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism. Issue 3 (25th January 2013) Authors: Daoud, Hussein; Tétreault, Martine; Gibson, William; Guerrero, Kether; Cohen, Ana; Gburek-Augustat, Janina; Synofzik, Matthis; Brais, Bernard; Stevens, Cathy A; Sanchez-Carpintero, Rocio; Goizet, Cyril; Naidu, Sakkubai; Vanderver, Adeline; Bernard, Geneviève Journal: Journal of medical genetics Issue: Volume 50:Issue 3(2013) Page Start: 194 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗