1. 3T MRI study discloses high intrafamilial variability in CADASIL due to a novel NOTCH3 mutation. (December 2018) Authors: La Piana, Roberta; Leppert, Ilana R.; Pike, G. Bruce; Lanthier, Sylvain; Brais, Bernard; Tampieri, Donatella Journal: Journal of clinical neuroscience Issue: Volume 58(2018) Page Start: 25 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A Molecular Diagnosis of LGMDR1 Established by RNA Sequencing. (10th March 2021) Authors: Nicolau, Stefan; Choquet, Karine; Bareke, Eric; Shao, Yi-Hong; Brais, Bernard; O'Ferrall, Erin K.; Tétreault, Martine; Karamchandani, Jason Journal: Canadian journal of neurological sciences Issue: Volume 48:Number 2(2021) Page Start: 293 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A National Spinal Muscular Atrophy Registry for Real-World Evidence. (4th November 2020) Authors: Hodgkinson, Victoria L.; Oskoui, Maryam; Lounsberry, Joshua; M'Dahoma, Saïd; Butler, Emily; Campbell, Craig; MacKenzie, Alex; McMillan, Hugh J.; Simard, Louise; Vajsar, Jiri; Brais, Bernard; Chapman, Kristine M.; Chrestian, Nicolas; Crone, Meghan; Dobrowolski, Peter; Dojeiji, Susan; Dowling, Jame... Journal: Canadian journal of neurological sciences Issue: Volume 47:Number 6(2020) Page Start: 810 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Altered synaptic and firing properties of cerebellar Purkinje cells in a mouse model of ARSACS. (19th July 2018) Authors: Ady, Visou; Toscano‐Márquez, Brenda; Nath, Moushumi; Chang, Philip K.; Hui, Jeanette; Cook, Anna; Charron, François; Larivière, Roxanne; Brais, Bernard; McKinney, R. Anne; Watt, Alanna J. Journal: Journal of physiology Issue: Volume 596:Number 17(2018) Page Start: 4253 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. An exploratory natural history of ataxia of Charlevoix-Saguenay: A 2-year follow-up. (2nd October 2018) Authors: Gagnon, Cynthia; Lessard, Isabelle; Lavoie, Caroline; Côté, Isabelle; St-Gelais, Raphaël; Mathieu, Jean; Brais, Bernard Journal: Neurology Issue: Volume 91:Number 14(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Brain Magnetic Resonance Imaging (MRI) Pattern Recognition in Pol III-Related Leukodystrophies. (February 2014) Authors: Piana, Roberta La; Tonduti, Davide; Dressman, Heather Gordish; Schmidt, Johanna L.; Murnick, Jonathan; Brais, Bernard; Bernard, Genevieve; Vanderver, Adeline Journal: Journal of child neurology Issue: Volume 29:Number 2(2014:Feb.) Page Start: 214 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy. Issue 8 (29th September 2020) Authors: Gauquelin, Laurence; Hartley, Taila; Tarnopolsky, Mark; Dyment, David A.; Brais, Bernard; Geraghty, Michael T.; Tétreault, Martine; Ahmed, Sohnee; Rojas, Samantha; Choquet, Karine; Majewski, Jacek; Bernier, François; Innes, Allan Micheil; Rouleau, Guy; Suchowersky, Oksana; Boycott, Kym M.; Yoon, ... Journal: Movement disorders clinical practice Issue: Volume 7:Issue 8(2020) Page Start: 940 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Clinical presentation and early evolution of spastic ataxia of Charlevoix‐Saguenay. Issue 14 (2nd August 2013) Authors: Duquette, Antoine; Brais, Bernard; Bouchard, Jean‐Pierre; Mathieu, Jean Journal: Movement disorders Issue: Volume 28:Issue 14(2013) Page Start: 2011 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Demographics and Clinical Characteristics of Autosomal Dominant Spinocerebellar Ataxia in Canada. Issue 3 (7th February 2023) Authors: Alshimemeri, Sohaila; Abo Alsamh, Danah; Zhou, Lily; Furtado, Sarah; Kraft, Scott; Bruno, Veronica; Duquette, Antoine; Brais, Bernard; Suchowersky, Oksana; Munhoz, Renato P.; Slow, Elizabeth Journal: Movement disorders clinical practice Issue: Volume 10:Issue 3(2023) Page Start: 440 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Development and validation of a disease severity index for ataxia of Charlevoix-Saguenay. (15th October 2019) Authors: Gagnon, Cynthia; Brais, Bernard; Lessard, Isabelle; Lavoie, Caroline; Côté, Isabelle; Mathieu, Jean Journal: Neurology Issue: Volume 93:Number 16(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗