Dr. James Dowling is an Associate Professor of Paediatrics and Molecular Genetics at the University of Toronto, and a Neurologist and Senior Scientist at the Hospital for Sick Children. He leads a translational research program focusing on the diagnosis and treatment of paediatric neuromuscular disorders with a focus on congenital myopathies and muscular dystrophies. He has published more than 100 peer reviewed manuscripts on topics related to neuromuscular disorders, and has been fortunate to have funding from multiple agencies including CIHR, NSERC, Genome Canada, and NIH. Currently, he is Chair of the Canadian Paediatric Neuromuscular Group (CPNG), a collaboration of Canadian paediatric neuromuscular specialists aimed at facilitating research, clinical care and education for patient’s families with NMD. He serves on the scientific advisory board of Jesse’s Journey, Muscular Dystrophy Canada, and MDA, and is an executive board member of the World Muscle Society. He represents paediatric NMDs as a member of the NMD4C Steering Committee, leads on genomics education and curriculum, and participates in trial coordination.
Fabian, L, Dowling, JJ. Zebrafish Models of LAMA2-Related Congenital Muscular Dystrophy (MDC1A). Front Mol Neurosci. 2020.13 122 PMID:32742259
Djordjevic, D, Tsuchiya, E, Fitzpatrick, M, Sondheimer, N, Dowling, JJ. Utility of metabolic screening in neurological presentations of infancy. Ann Clin Transl Neurol. 2020.7 (7)1132-1140 PMID:32495504
Hodgkinson, VL, Oskoui, M, Lounsberry, J, M'Dahoma, S, Butler, E, Campbell, C et al.. A National Spinal Muscular Atrophy Registry for Real-World Evidence. Can J Neurol Sci. 2020. 1-6 PMID:32493524
Ruggieri, A, Naumenko, S, Smith, MA, Iannibelli, E, Blasevich, F, Bragato, C et al.. Multiomic elucidation of a coding 99-mer repeat-expansion skeletal muscle disease. Acta Neuropathol. 2020.140 (2)231-235 PMID:32451610
Al Amrani, F, Gorodetsky, C, Hazrati, LN, Amburgey, K, Gonorazky, HD, Dowling, JJ et al.. Biallelic LINE insertion mutation in HACD1 causing congenital myopathy. Neurol Genet. 2020.6 (3)e423 PMID:32426512See more on PubMed