The Neuromuscular Disease Network for Canada


Hugh McMillan


Clinical Investigator, CHEO Research Institute

Associate Professor, uOttawa Department of Pediatrics,

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Dr Hugh McMillan is an Associate Professor of Pediatrics at the University of Ottawa, a Pediatric Neurologist and Neuromuscular specialist at the Children’s Hospital of Eastern Ontario (CHEO) and a Clinical Investigator at the CHEO Research Institute. His area of clinical expertise is caring for children and youth with inherited and acquired disorders of peripheral nerve, muscle and neuromuscular junction. He follows children in the Neuro-Oncology clinic as well as a General Child Neurology clinic. His research interests include clinical research, clinical trials (investigator-initiated and sponsor-initiated studies) as well as translational research in cooperation with basic scientists. He has been an author or co-author of more than 55 publications in peer-reviewed journals. He recently co-edited a textbook, “Pediatric Electromyography: Concepts and Clinical Applications”. He is active in the community as a Member of the Muscular Dystrophy Canada Scientific Advisory Board and is the Chair of the Canadian Pediatric Neuromuscular Group.

Recent publications

Yaworski, A, Koujok, K, Cheung, K, Ying, Y, McMillan, HJ. Intrinsic peripheral nerve and root tumor and pseudotumoral lesions at a tertiary care pediatric hospital. Childs Nerv Syst. 2021. PMID:33404726

McMillan, HJ, Kernohan, KD, Yeh, E, Amburgey, K, Boyd, J, Campbell, C et al.. Newborn Screening for Spinal Muscular Atrophy: Ontario Testing and Follow-up Recommendations. Can J Neurol Sci. 2020. 1-8 PMID:33059774

Thulasirajah, S, Michaud, J, Doja, A, McMillan, HJ. Inhaled Solvent Abuse Mimicking Chronic Inflammatory Demyelinating Polyradiculoneuropathy. Child Neurol Open. .7 2329048X20934914 PMID:32613026

Hanes, I, McMillan, HJ, Ito, Y, Kernohan, KD, Lazier, J, Lines, MA et al.. A splice variant in ATAD3A expands the clinical and genetic spectrum of Harel-Yoon syndrome. Neurol Genet. 2020.6 (4)e452 PMID:32607449

Johnstone, DL, Nguyen, TTM, Zambonin, J, Kernohan, KD, St-Denis, A, Baratang, NV et al.. Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature. J Inherit Metab Dis. 2020.43 (6)1321-1332 PMID:32588908

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