1. COL4A1/2 CNVs and cerebral small vessel disease: Narrowing in on the critical chromosomal region. (29th May 2018) Authors: Saskin, Avi; Sillon, Guillaume; Palfreeman, Natalie; Buhas, Daniela Journal: Neurology Issue: Volume 90:Number 22(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort. Issue 1 (11th February 2019) Authors: Levtova, Alina; Waters, Paula J.; Buhas, Daniela; Lévesque, Sébastien; Auray‐Blais, Christiane; Clarke, Joe T.R.; Laframboise, Rachel; Maranda, Bruno; Mitchell, Grant A.; Brunel‐Guitton, Catherine; Braverman, Nancy E. Journal: Journal of inherited metabolic disease Issue: Volume 42:Issue 1(2019) Page Start: 107 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency. Issue 1 (1st December 2020) Authors: Coughlin, Curtis R.; Tseng, Laura A.; Abdenur, Jose E.; Ashmore, Catherine; Boemer, François; Bok, Levinus A.; Boyer, Monica; Buhas, Daniela; Clayton, Peter T.; Das, Anibh; Dekker, Hanka; Evangeliou, Athanasios; Feillet, François; Footitt, Emma J.; Gospe, Sidney M.; Hartmann, Hans; Kara, Majdi; K... Journal: Journal of inherited metabolic disease Issue: Volume 44:Issue 1(2021) Page Start: 178 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Health Care for Mitochondrial Disorders in Canada: A Survey of Physicians. (November 2019) Authors: Paik, Karen; Lines, Matthew A.; Chakraborty, Pranesh; Khangura, Sara D.; Latocki, Maureen; Al-Hertani, Walla; Brunel-Guitton, Catherine; Khan, Aneal; Penny, Blaine; Rockman-Greenberg, Cheryl; Rupar, C. Anthony; Sondheimer, Neal; Tarnopolsky, Mark; Tingley, Kylie; Coyle, Doug; Dyack, Sarah; Feigen... Other Names: collab. Journal: Canadian journal of neurological sciences Issue: Volume 46:Number 6(2019) Page Start: 717 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. HSD10 mitochondrial disease: p.Leu122Val variant, mild clinical phenotype, and founder effect in French‐Canadian patients from Quebec. Issue 12 (26th October 2019) Authors: Waters, Paula J.; Lace, Baiba; Buhas, Daniela; Gravel, Serge; Cyr, Denis; Boucher, Renée‐Myriam; Bernard, Geneviève; Lévesque, Sébastien; Maranda, Bruno Journal: Molecular genetics & genomic medicine Issue: Volume 7:Issue 12(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Monocarboxylate transporter-1 deficiency results in severe metabolic acidosis with ketogenic diet in early onset absence epilepsy: Case report. (January 2020) Authors: Le, Audrey; Yeganeh, Mehdi; Buhas, Daniela; Trempe, Marie-Josée; Myers, Kenneth A. Journal: Seizure Issue: Volume 74(2019) Page Start: 31 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. MT‐TA pathogenic variants may cause developmental and epileptic encephalopathy without myopathy. Issue 10 (3rd August 2022) Authors: Sahly, Ahmed N.; Buhas, Daniela; Myers, Kenneth A. Journal: American journal of medical genetics Issue: Volume 188:Issue 10(2022) Page Start: 3135 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Mutation in The Nuclear‐Encoded Mitochondrial Isoleucyl–tRNA Synthetase IARS2 in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafness, and Peripheral Neuropathy or with Leigh Syndrome. Issue 11 (18th October 2014) Authors: Schwartzentruber, Jeremy; Buhas, Daniela; Majewski, Jacek; Sasarman, Florin; Papillon‐Cavanagh, Simon; Thiffaut, Isabelle; Sheldon, Katherine M.; Massicotte, Christine; Patry, Lysanne; Simon, Mariella; Zare, Amir S.; McKernan, Kevin J.; FORGE Canada Consortium; Michaud, Jacques; Boles, Richard G.... Journal: Human mutation Issue: Volume 35:Issue 11(2014:Nov.) Page Start: 1285 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Mutation in The Nuclear‐Encoded Mitochondrial Isoleucyl–tRNA Synthetase IARS2 in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafness, and Peripheral Neuropathy or with Leigh Syndrome. Issue 2 (February 2015) Authors: Schwartzentruber, Jeremy; Buhas, Daniela; Majewski, Jacek; Sasarman, Florin; Papillon‐Cavanagh, Simon; Thiffault, Isabelle; Sheldon, Katherine M.; Massicotte, Christine; Patry, Lysanne; Simon, Mariella; Zare, Amir S.; McKernan, Kevin J.; Consortium, FORGE Canada; Michaud, Jacques; Boles, Richard ... Journal: Human mutation Issue: Volume 36:Issue 2(2015:Feb.) Page Start: 281 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Mutations in riboflavin transporter present with severe sensory loss and deafness in childhood. Issue 5 (16th September 2014) Authors: Srour, Myriam; Putorti, Maria Lisa; Schwartzentruber, Jeremy; Bolduc, Véronique; Shevell, Michael Israel; FORGE Canada Consortium; Poulin, Chantal; O'ferrall, Erin; Buhas, Daniela; Majewski, Jacek; Brais, Bernard Journal: Muscle & nerve Issue: Volume 50:Issue 5(2014:Nov.) Page Start: 775 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗