1. The Occurrence of FUS Mutations in Pediatric Amyotrophic Lateral Sclerosis: A Case Report and Review of the Literature. (July 2020) Authors: Picher-Martel, Vincent; Brunet, Francis; Dupré, Nicolas; Chrestian, Nicolas Journal: Journal of child neurology Issue: Volume 35:Number 8(2020:Aug.) Page Start: 556 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 71 Adrenal Insufficiency among Children treated with Hormonal Therapy for Infantile Spasms. (29th October 2021) Authors: Doré-Brabant, Gabrielle; Laflamme, Geneviève; Millette, Maude; Chrestian, Nicolas; Osterman, Bradley Journal: Paediatrics & Child Health Issue: Volume 26: Supplement 1(2021) Page Start: e51 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Novel Recessive TNNT1 Congenital Core‐Rod Myopathy in French Canadians. Issue 4 (8th February 2020) Authors: Pellerin, David; Aykanat, Asli; Ellezam, Benjamin; Troiano, Emily C.; Karamchandani, Jason; Dicaire, Marie‐Josée; Petitclerc, Marc; Robertson, Rebecca; Allard‐Chamard, Xavier; Brunet, Denis; Konersman, Chamindra G.; Mathieu, Jean; Warman Chardon, Jodi; Gupta, Vandana A.; Beggs, Alan H.; Brais, Be... Journal: Annals of neurology Issue: Volume 87:Issue 4(2020) Page Start: 568 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Adrenal insufficiency among children treated with hormonal therapy for infantile spasms. Issue 9 (8th July 2022) Authors: Doré‐Brabant, Gabrielle; Laflamme, Geneviève; Millette, Maude; Osterman, Bradley; Chrestian, Nicolas Journal: Epilepsia Issue: Volume 63:Issue 9(2022) Page Start: 2350 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Participation restriction in childhood phenotype of myotonic dystrophy type 1: a systematic retrospective chart review. (27th September 2016) Authors: Gagnon, Cynthia; Kierkegaard, Marie; Blackburn, Catherine; Chrestian, Nicolas; Lavoie, Mélissa; Bouchard, Marie‐Frédéric; Mathieu, Jean Journal: Developmental medicine & child neurology Issue: Volume 59:Number 3(2017) Page Start: 291 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. A founder mutation in the PLPBP gene in families from Saguenay‐Lac‐St‐Jean region affected by a pyridoxine‐dependent epilepsy. Issue 1 (23rd February 2021) Authors: Pal, Maitou; Lace, Baiba; Labrie, Yvan; Laflamme, Nathalie; Rioux, Nadie; Setty, Samarth Thonta; Dugas, Marc‐Andre; Gosselin, Louise; Droit, Arnaud; Chrestian, Nicolas; Rivest, Serge Journal: JIMD reports Issue: Volume 59:Issue 1(2021) Page Start: 32 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. 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) ↗
8. Characterization of the phenotype with cognitive impairment and protein mislocalization in SCA34. (April 2020) Authors: Beaudin, Marie; Sellami, Leila; Martel, Christian; Touzel-Deschênes, Lydia; Houle, Gabrielle; Martineau, Laurence; Lacroix, Kevin; Lavallée, Andréane; Chrestian, Nicolas; Rouleau, Guy A.; Gros-Louis, François; Laforce, Robert; Dupré, Nicolas Journal: Neurology Issue: Volume 6:Number 2(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Clinical and genetic study of hereditary spastic paraplegia in Canada. (February 2017) Authors: Chrestian, Nicolas; Dupré, Nicolas; Gan-Or, Ziv; Szuto, Anna; Chen, Shiyi; Venkitachalam, Anil; Brisson, Jean-Denis; Warman-Chardon, Jodi; Ahmed, Sohnee; Ashtiani, Setareh; MacDonald, Heather; Mohsin, Noreen; Mourabit-Amari, Karim; Provencher, Pierre; Boycott, Kym M.; Stavropoulos, Dimitri J.; Di... Journal: Neurology Issue: Volume 3:Number 1(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗