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Page 1
The Canadian Neuromuscular Disease Registry: Connecting patients to national and international research opportunities.
Wei Y, McCormick A, MacKenzie A, O'Ferrall E, Venance S, Mah JK, Selby K, McMillan HJ, Smith G, Oskoui M, Hogan G, McAdam L, Mabaya G, Hodgkinson V, Lounsberry J, Korngut L, Campbell C. Wei Y, et al. Among authors: mackenzie a. Paediatr Child Health. 2018 Feb;23(1):20-26. doi: 10.1093/pch/pxx125. Epub 2017 Dec 8. Paediatr Child Health. 2018. PMID: 29479275 Free PMC article.
A National Spinal Muscular Atrophy Registry for Real-World Evidence.
Hodgkinson VL, Oskoui M, Lounsberry J, M'Dahoma S, Butler E, Campbell C, MacKenzie A, McMillan HJ, Simard L, Vajsar J, Brais B, Chapman KM, Chrestian N, Crone M, Dobrowolski P, Dojeiji S, Dowling JJ, Dupré N, Genge A, Gonorazky H, Hasal S, Izenberg A, Johnston W, Leung E, Lochmüller H, Mah JK, Marerro A, Massie R, McAdam L, McCormick A, Melanson M, Mezei MM, Nguyen CE, O'Connell C, O'Ferrall EK, Pfeffer G, Phan C, Plamondon S, Poulin C, Rodrigue X, Schellenberg KL, Selby K, Sheriko J, Shoesmith C, Smith G, Taillon M, Taylor S, Warman Chardon J, Worley S, Korngut L. Hodgkinson VL, et al. Among authors: mackenzie a. Can J Neurol Sci. 2020 Nov;47(6):810-815. doi: 10.1017/cjn.2020.111. Epub 2020 Jun 4. Can J Neurol Sci. 2020. PMID: 32493524 Free PMC article.
Response to the Canadian Agency for Drugs and Technologies in Health and Institut national d'excellence en santé et en services sociaux decision regarding nusinersen for Spinal Muscular Atrophy.
Campbell C, Selby K, McMillan H, Vajsar J, Korngut L, Brais B, MacKenzie A, Oskoui M. Campbell C, et al. Among authors: mackenzie a. Can J Neurol Sci. 2018 Sep;45(5):516-517. doi: 10.1017/cjn.2018.59. Epub 2018 Jul 24. Can J Neurol Sci. 2018. PMID: 30039778 No abstract available.
Newborn Screening for Spinal Muscular Atrophy: Ontario Testing and Follow-up Recommendations.
McMillan HJ, Kernohan KD, Yeh E, Amburgey K, Boyd J, Campbell C, Dowling JJ, Gonorazky H, Marcadier J, Tarnopolsky MA, Vajsar J, MacKenzie A, Chakraborty P. McMillan HJ, et al. Among authors: mackenzie a. Can J Neurol Sci. 2021 Jul;48(4):504-511. doi: 10.1017/cjn.2020.229. Epub 2020 Oct 16. Can J Neurol Sci. 2021. PMID: 33059774 Clinical Trial.
The CNDR: collaborating to translate new therapies for Canadians.
Korngut L, Campbell C, Johnston M, Benstead T, Genge A, Mackenzie A, McCormick A, Biggar D, Bourque P, Briemberg H, O'Connell C, Dojeiji S, Dooley J, Grant I, Hogan G, Johnston W, Kalra S, Katzberg HD, Mah JK, McAdam L, McMillan HJ, Melanson M, Selby K, Shoesmith C, Smith G, Venance SL, Wee J; CNDR Investigator Network. Korngut L, et al. Among authors: mackenzie a. Can J Neurol Sci. 2013 Sep;40(5):698-704. doi: 10.1017/s0317167100014943. Can J Neurol Sci. 2013. PMID: 23968944
Ontario Newborn Screening for Spinal Muscular Atrophy: The First Year.
Kernohan KD, McMillan HJ, Yeh E, Lacaria M, Kowalski M, Campbell C, Dowling JJ, Gonorazky H, Marcadier J, Tarnopolsky MA, Vajsar J, Mackenzie A, Chakraborty P. Kernohan KD, et al. Among authors: mackenzie a. Can J Neurol Sci. 2022 Nov;49(6):821-823. doi: 10.1017/cjn.2021.231. Epub 2021 Oct 8. Can J Neurol Sci. 2022. PMID: 34620260 No abstract available.
Establishing core outcome sets for phenylketonuria (PKU) and medium-chain Acyl-CoA dehydrogenase (MCAD) deficiency in children: study protocol for systematic reviews and Delphi surveys.
Potter BK, Hutton B, Clifford TJ, Pallone N, Smith M, Stockler S, Chakraborty P, Barbeau P, Garritty CM, Pugliese M, Rahman A, Skidmore B, Tessier L, Tingley K, Coyle D, Greenberg CR, Korngut L, MacKenzie A, Mitchell JJ, Nicholls S, Offringa M, Schulze A, Taljaard M; Canadian Inherited Metabolic Diseases Research Network. Potter BK, et al. Among authors: mackenzie a. Trials. 2017 Dec 19;18(1):603. doi: 10.1186/s13063-017-2327-3. Trials. 2017. PMID: 29258568 Free PMC article.
Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.
McMillan HJ, Worthylake T, Schwartzentruber J, Gottlieb CC, Lawrence SE, Mackenzie A, Beaulieu CL, Mooyer PA; FORGE Canada Consortium; Wanders RJ, Majewski J, Bulman DE, Geraghty MT, Ferdinandusse S, Boycott KM. McMillan HJ, et al. Among authors: mackenzie a. Orphanet J Rare Dis. 2012 Nov 22;7:90. doi: 10.1186/1750-1172-7-90. Orphanet J Rare Dis. 2012. PMID: 23181892 Free PMC article.
Core Outcome Sets for Medium-Chain Acyl-CoA Dehydrogenase Deficiency and Phenylketonuria.
Pugliese M, Tingley K, Chow A, Pallone N, Smith M, Chakraborty P, Geraghty MT, Irwin JK, Mitchell JJ, Stockler S, Nicholls SG, Offringa M, Rahman A, Tessier LA, Butcher NJ, Iverson R, Lamoureux M, Clifford TJ, Hutton B, Paik K, Tao J, Skidmore B, Coyle D, Duddy K, Dyack S, Greenberg CR, Jain Ghai S, Karp N, Korngut L, Kronick J, MacKenzie A, MacKenzie J, Maranda B, Potter M, Prasad C, Schulze A, Sparkes R, Taljaard M, Trakadis Y, Walia J, Potter BK; Canadian Inherited Metabolic Diseases Research Network. Pugliese M, et al. Among authors: mackenzie j, mackenzie a. Pediatrics. 2021 Aug;148(2):e2020037747. doi: 10.1542/peds.2020-037747. Epub 2021 Jul 15. Pediatrics. 2021. PMID: 34266901
1,312 results