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Author Details

Hugh J McMillan
Montreal Children's Hospital, McGill University
1997
124
28
PMIDPaper TitleJournal TitlePublished Year
36892082Variability in Newborn Screening Across Canada: Spinal Muscular Atrophy and Beyond.Can J Neurol Sci2024
37610420Risk Factors Associated with Incident Vertebral Fractures in Steroid-treated Males with Duchenne Muscular Dystrophy.J Clin Endocrinol Metab2024
36847175Does E-learning Facilitate Medical Education in Pediatric Neurology?Can J Neurol Sci2024
36102618Understanding the experiences of lung volume recruitment among boys with Duchenne muscular dystrophy: A multicenter qualitative study.Pediatr Pulmonol2023
37750602Respiratory failure in a patient with VACTERL association and concomitant spinal muscular atrophy.Pediatr Pulmonol2023
37621218Further characterization of CEP85L-associated lissencephaly type 10: Report of a three-generation family and review of the literature.Am J Med Genet A2023
37780708Case report: A case of spinal muscular atrophy in a preterm infant: risks and benefits of treatment.Front Neurol2023
37077559Novel Homozygous Variant in <i>COQ7</i> in Siblings With Hereditary Motor Neuropathy.Neurol Genet2023
36515815Caregiver Burden of Spinal Muscular Atrophy: A Systematic Review.Pharmacoeconomics2023
36931315Concurrent <i>versus</i> terminal feedback: The effect of feedback delivery on lumbar puncture skills in simulation training.Med Teach2023
36342539Risk factors associated with prevalent vertebral fractures in Duchenne muscular dystrophy.Osteoporos Int2023
34082851Guidance on Gene Replacement Therapy in Spinal Muscular Atrophy: A Canadian Perspective.Can J Neurol Sci2022
35381069Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial.JAMA2022
35437095Onasemnogene abeparvovec for the treatment of spinal muscular atrophy.Expert Opin Biol Ther2022
355007902022 HRS expert consensus statement on evaluation and management of arrhythmic risk in neuromuscular disorders.Heart Rhythm2022
35756968<i>NTRK1</i>-related Hereditary Sensory and Autonomic Neuropathy Type 4: The Role of the Histamine Challenge Test.Child Neurol Open2022
35715567Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial.Nat Med2022
35715566Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial.Nat Med2022
36036925Efficacy and Safety of Vamorolone vs Placebo and Prednisone Among Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial.JAMA Neurol2022
35213591Enhancing human aspects of care with young people with muscular dystrophy: An evaluation of a participatory qualitative study with clinicians.PLoS One2022
35236763Routine lung volume recruitment in boys with Duchenne muscular dystrophy: a randomised clinical trial.Thorax2022
34392843Not so Shocking: Electromyography in Pediatrics Remains Feasible and Diagnostically Useful.Can J Neurol Sci2022
34620260Ontario Newborn Screening for Spinal Muscular Atrophy: The First Year.Can J Neurol Sci2022
33186633Hepatotoxicity following administration of onasemnogene abeparvovec (AVXS-101) for the treatment of spinal muscular atrophy.J Hepatol2021
33576939Costs of Illness of Spinal Muscular Atrophy: A Systematic Review.Appl Health Econ Health Policy2021
33576074Whole genome sequencing reveals biallelic PLA2G6 mutations in siblings with cerebellar atrophy and cap myopathy.Clin Genet2021
33649541Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development.Eur J Hum Genet2021
33568245Pediatric Hyperacute Arterial Ischemic Stroke Pathways at Canadian Tertiary Care Hospitals.Can J Neurol Sci2021
33689492Characterization of physical literacy in children with chronic medical conditions compared with healthy controls: a cross-sectional study.Appl Physiol Nutr Metab2021
34405953Whole genome sequencing identifies pathogenic RNU4ATAC variants in a child with recurrent encephalitis, microcephaly, and normal stature.Am J Med Genet A2021
34548659Author Correction: Pan-viral serology implicates enteroviruses in acute flaccid myelitis.Nat Med2021
34715011Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations.Am J Hum Genet2021
34796249Neurophysiological Characteristics of Allgrove (Triple A) Syndrome: Case Report and Literature Review.Child Neurol Open2021
34387651Enhanced cGAS-STING-dependent interferon signaling associated with mutations in ATAD3A.J Exp Med2021
34076279Biomarkers in Duchenne and Becker muscular dystrophies.Muscle Nerve2021
34120912A Randomized, Double-Blind, Placebo-Controlled, Global Phase 3 Study of Edasalonexent in Pediatric Patients with Duchenne Muscular Dystrophy: Results of the PolarisDMD Trial.J Neuromuscul Dis2021
34196026Expert recommendations and clinical considerations in the use of onasemnogene abeparvovec gene therapy for spinal muscular atrophy.Muscle Nerve2021
33404726Intrinsic peripheral nerve and root tumor and pseudotumoral lesions at a tertiary care pediatric hospital.Childs Nerv Syst2021
33059774Newborn Screening for Spinal Muscular Atrophy: Ontario Testing and Follow-up Recommendations.Can J Neurol Sci2021
28926506Family Perspectives on Visiting the Pediatric Emergency Department for Migraine: A Qualitative Study.Pediatr Emerg Care2020
31842706Risk of Intracranial Hemorrhage Following Intravenous tPA (Tissue-Type Plasminogen Activator) for Acute Stroke Is Low in Children.Stroke2020
31811661Developmental delay and neuropsychiatric comorbidities associated with Duchenne and Becker muscular dystrophy.Muscle Nerve2020
31724199Utility and practice of electrodiagnostic testing in the pediatric population: An AANEM consensus statement.Muscle Nerve2020
32075891Drisapersen associated with elevated serum factor VIII levels in Duchenne muscular dystrophy.Neurology2020
32107739Life expectancy at birth in Duchenne muscular dystrophy: a systematic review and meta-analysis.Eur J Epidemiol2020
32607449A splice variant in <i>ATAD3A</i> expands the clinical and genetic spectrum of Harel-Yoon syndrome.Neurol Genet2020
32613026Inhaled Solvent Abuse Mimicking Chronic Inflammatory Demyelinating Polyradiculoneuropathy.Child Neurol Open2020
32117035Myotonic Myopathy With Secondary Joint and Skeletal Anomalies From the c.2386C&gt;G, p.L769V Mutation in SCN4A.Front Neurol2020
32493524A National Spinal Muscular Atrophy Registry for Real-World Evidence.Can J Neurol Sci2020
32265824Corrigendum: Myotonic Myopathy With Secondary Joint and Skeletal Anomalies From the c.2386C&gt;G, p.L796V Mutation in <i>SCN4A</i>.Front Neurol2020
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Collaborators

Kym M Boycott
Children's Hospital of Eastern Ontario
Co-authored papers 15
Basil T Darras
Boston Children's Hospital, Harvard Medical School
Co-authored papers 9
Asif Doja
University of Ottawa
Co-authored papers 8
Hanns Lochm??ller
Children's Hospital of Eastern Ontario Research Institute
Co-authored papers 7
Richard S Finkel
Center for Experimental Neurotherapeutics, St. Jude Children's Research Hospital
Co-authored papers 7
Mark A Tarnopolsky
McMaster University Medical Center
Co-authored papers 5
Nancy L Kuntz
Lurie Children's Hospital
Co-authored papers 5
Hernan Gonorazky
The Hospital for Sick Children, University of Toronto
Co-authored papers 5
Chandree L Beaulieu
Children's Hospital of Eastern Ontario Research Institute, University of Ottawa
Co-authored papers 5
Taila Hartley
Children's Hospital of Eastern Ontario Research Institute
Co-authored papers 4
Volker Straub
Translational and clinical research, Newcastle University Faculty of Medical Sciences
Co-authored papers 4
Julie Richer
University of Ottawa, Canada Children's Hospital of Eastern Ontario
Co-authored papers 4
Kate Bushby
Institute of Genetic Medicine, International Centre for Life
Co-authored papers 3
Adam Kirton
University of Calgary, Alberta Children's Hospital Research Institute
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Francesco Muntoni
UCL Great Ormond Street Institute of Child Health
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Lijia Huang
Children's Hospital of Eastern Ontario (CHEO)
Co-authored papers 3
Rebecca N Ichord
Children's Hospital of Philadelphia
Co-authored papers 2
Marcela Torres
Cook Children's Medical Center
Co-authored papers 2
Kathryn J Swoboda
Center for Genomic Medicine, Massachusetts General Hospital
Co-authored papers 2
Cristina M Tato
Institute of Immunity, Stanford University School of Medicine
Co-authored papers 2
Michael J Rivkin
Boston Children's Hospital, Harvard Medical School
Co-authored papers 2
Emily D Crawford
Co-authored papers 2
Garey Noritz
Nationwide Children's Hospital and The Ohio State University College of Medicine
Co-authored papers 2
Michael R Wilson
Weill Institute for Neurosciences, University of California-San Francisco
Co-authored papers 2
Michael M Dowling
University of Texas Southwestern Medical Center
Co-authored papers 2
Charles Y Chiu
University of California-San Francisco
Co-authored papers 2
Kevin A Strauss
Co-authored papers 2
Catherine Amlie-Lefond
University of Washington
Co-authored papers 2
Joseph L DeRisi
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Eric F Grabowski
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Release 1.2