Author

Cam‐Tu Émilie Nguyen

Observed names: C Nguyen, C. Nguyen, C. T. Nguyen, C.‐T. É. Nguyen, CE Nguyen, CTE Nguyen, Cam-Tu E. Nguyen, Cam-Tu Emilie Nguyen, Cam-Tu Nguyen, Cam-Tu Émilie Nguyen, Nguyen, C. T., Nguyen, Cam-Tu Emilie

Institution: Centre Hospitalier Universitaire Sainte-Justine

Observed institutions: Western University, Boston Children's Hospital, Kaiser Permanente, Harvard University, University of Toronto, University of Michigan, Montreal Children's Hospital, London Health Sciences Centre, Hospital for Sick Children, Bristol Royal Hospital for Children, Centre Hospitalier Universitaire Sainte-Justine, Autodesk (Canada), Cure CMD, Pitié-Salpêtrière Hospital, Children's Hospital of Western Ontario, CHU Sainte-Justine Research Center, Manton Center for Orphan Disease Research, McGill University, Université de Montréal

ORCID: 0009-0008-6389-380X

Observed ORCID: 0009-0008-6389-380X

OpenAlex ID: A5102074528

A natural history study of X-linked myotubular myopathy

2017 · Kimberly Amburgey, Etsuko Tsuchiya, et al. · Neurology · 111

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Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy

2019 · René G. Feichtinger, Bettina E. Mucha, et al. · Genetics in Medicine · 40

The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD)

2023 · Nicholas M Allen, Mark O’Rahelly, et al. · Brain · 37

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A Randomized, Double-Blind, Placebo-Controlled, Global Phase 3 Study of Edasalonexent in Pediatric Patients with Duchenne Muscular Dystrophy: Results of the PolarisDMD Trial

2021 · Richard S. Finkel, (For the PolarisDMD Study Group), et al. · Journal of Neuromuscular Diseases · 32

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Pharmacological therapy for the prevention and management of cardiomyopathy in Duchenne muscular dystrophy: A systematic review

2016 · Basmah El-Aloul, Luis Altamirano-Diaz, et al. · Neuromuscular Disorders · 29

The Canadian Neuromuscular Disease Registry 2010–2019: A Decade of Facilitating Clinical Research Througha Nationwide, Pan-NeuromuscularDisease Registry

2020 · V. Hodgkinson, J. Lounsberry, et al. · Journal of Neuromuscular Diseases · 27

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A National Spinal Muscular Atrophy Registry for Real-World Evidence

2020 · Victoria L. Hodgkinson, Maryam Oskoui, et al. · Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques · 25

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Further delineation of TBCK - Infantile hypotonia with psychomotor retardation and characteristic facies type 3

2018 · Eugenio Zapata-Aldana, David Dongkyung Kim, et al. · European Journal of Medical Genetics · 23

Experience of Parents of Children with Genetically Determined Leukoencephalopathies Regarding the Adapted Health Care Services During the COVID-19 Pandemic

2022 · Pouneh Amir Yazdani, Marie-Lou St-Jean, et al. · Journal of Child Neurology · 20

Twinkle-Associated Mitochondrial DNA Depletion

2018 · Salma Remtulla, Cam-Tu Emilie Nguyen, et al. · Pediatric Neurology · 16

CNS Inflammation as the First Sign of Complement Factor I Deficiency

2023 · Valérie Massey, Cam-Tu Emilie Nguyen, et al. · Neurology Neuroimmunology & Neuroinflammation · 14

Myotonic dystrophy type 1

2016 · Cam-Tu Emilie Nguyen, Craig Campbell · Canadian Medical Association Journal · 13

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Clinical course, imaging, and pathological features of 45 adult and pediatric cases of myelin oligodendrocyte glycoprotein antibody-associated disease

2023 · Hayet Boudjani, Giulia Fadda, et al. · Multiple Sclerosis and Related Disorders · 11

MYOD1 involvement in myopathy

2018 · F. Lopes, M. Miguet, et al. · European Journal of Neurology · 10

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Variants in LSM7 impair LSM complexes assembly, neurodevelopment in zebrafish and may be associated with an ultra-rare neurological disease

2021 · Alexa Derksen, Hung-Yu Shih, et al. · Human Genetics and Genomics Advances · 9

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Developmental Milestones and Quality of Life Assessment in a Congenital Myotonic Dystrophy Cohort

2016 · Madhavi Prasad, Rhiannon Hicks, et al. · Journal of Neuromuscular Diseases · 9

Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy

2024 · Laura Ann Adang, Samuel Groeschel, et al. · Molecular Genetics and Metabolism · 8

The Experience of Parents of Children With Genetically Determined Leukoencephalopathies With the Health Care System: A Qualitative Study

2023 · Pouneh Amir Yazdani, Marie-Lou St-Jean, et al. · Journal of Child Neurology · 8

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Urine Sorbitol and Xylitol for the Diagnosis of Sorbitol Dehydrogenase Deficiency–Related Neuropathy

2025 · Jordan Elliott Bontrager, Amy L. White, et al. · Neurology · 6

Equitable Access to Disease-Modifying Therapies for Canadian Children with SMA and Four SMN2 Copies

2024 · Hugh J. McMillan, Hernan Gonorazky, et al. · Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques · 5

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Cavernous sinus thrombosis secondary to sinusitis: a rare and life-threatening complication

2009 · Cam-Tu E. Nguyen, Ricardo Faingold · Pediatric Radiology · 5

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Unveiling a suspected dupilumab‐induced neuropathy in pediatric eosinophilic esophagitis

2024 · Hugo Gagnon, Cam‐Tu Émilie Nguyen, et al. · Pediatric Allergy and Immunology · 3

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A Phenotypic Description of Congenital Myotonic Dystrophy using PhenoStacks

2019 · Madhavi Prasad, Michael Glueck, et al. · Journal of Neuromuscular Diseases · 2

Interventional Radiology: From Idea to Device to Patient

2020 · Anthony Ciarallo, Cam-Tu Emilie Nguyen, et al. · McGill Journal of Medicine · 1

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Myasthenia Gravis

2019 · D. Nguyen, S. Botez, et al. · Neuromuscular Disorders · 1

Works count: 41

Citation count: 472

H-index: 12

I10-index: 14