Publications by authors named "Mackenzie Michell-Robinson"

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Comprehensive genotype-phenotype analysis in POLR3-related disorders.
Mackenzie A Michell-Robinson, Stefanie Perrier, Samuel Gauthier, Alexa Derksen, Quentin Sabbagh

HGG Adv· October 2025

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Hypomyelination, hypodontia and craniofacial abnormalities in a Polr3b mouse model of leukodystrophy.
Mackenzie A Michell-Robinson, Kristin E N Watt, Vladimir Grouza, Julia Macintosh, Maxime Pinard

Brain· December 2023

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Solving inherited white matter disorder etiologies in the neurology clinic: Challenges and lessons learned using next-generation sequencing.
Stefanie Perrier, Kether Guerrero, Luan T Tran, Mackenzie A Michell-Robinson, Geneviève Legault

Front Neurol· April 2023

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Decreased RNA polymerase III subunit expression leads to defects in oligodendrocyte development.
Julia Macintosh, Mackenzie Michell-Robinson, Xiaoru Chen, Geneviève Bernard

Front Neurosci· April 2023

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An optimized and validated protocol for the purification of PDGFRα+ oligodendrocyte precursor cells from mouse brain tissue via immunopanning.
Julia Macintosh, Mackenzie A Michell-Robinson, Xiaoru Chen, Daryan Chitsaz, Timothy E Kennedy

MethodsX· February 2023

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Oculodentodigital Dysplasia: A Cause of Hypomyelinating Leukodystrophy in Adults.
Mackenzie A Michell-Robinson, Stefanie Perrier, Cassandra Lucia, Luan T Tran, Isabelle Thiffault

Neurology· April 2022

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Discovery of Phospholipase D Inhibitors with Improved Drug-like Properties and Central Nervous System Penetrance.
Tricia L May-Dracka, Fang Gao, Brian T Hopkins, Xiaoping Hronowski, TeYu Chen, Mackenzie A Michell-Robinson

ACS Med Chem Lett· April 2022

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Reader Response: Association of Age at Onset and First Symptoms With Disease Progression in Patients With Metachromatic Leukodystrophy.
Mackenzie A Michell-Robinson, Sarah Lépine

Neurology· August 2021

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POLR3-Related Leukodystrophy: Exploring Potential Therapeutic Approaches.
Stefanie Perrier, Mackenzie A Michell-Robinson, Geneviève Bernard

Front Cell Neurosci· January 2021

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Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy.
Stefanie Perrier, Laurence Gauquelin, Catherine Fallet-Bianco, Megan K Dishop, Mackenzie A Michell-Robinson

Neurol Genet· June 2020

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Therapy for Spinal Muscular Atrophy.
Heather T Whittaker, Mackenzie A Michell-Robinson

N Engl J Med· February 2018

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MerTK Is a Functional Regulator of Myelin Phagocytosis by Human Myeloid Cells.
Luke M Healy, Gabrielle Perron, So-Yoon Won, Mackenzie A Michell-Robinson, Ayman Rezk

J Immunol· April 2016

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Effects of fumarates on circulating and CNS myeloid cells in multiple sclerosis.
Mackenzie A Michell-Robinson, Craig S Moore, Luke M Healy, Lindsay A Osso, Nika Zorko

Ann Clin Transl Neurol· January 2016

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Regulation of human glia by multiple sclerosis disease modifying therapies.
Luke M Healy, Mackenzie A Michell-Robinson, Jack P Antel

Semin Immunopathol· November 2015

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Roles of microglia in brain development, tissue maintenance and repair.
Mackenzie A Michell-Robinson, Hanane Touil, Luke M Healy, David R Owen, Bryce A Durafourt

Brain· May 2015

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P2Y12 expression and function in alternatively activated human microglia.
Craig S Moore, Ariel R Ase, Angham Kinsara, Vijayaraghava T S Rao, Mackenzie Michell-Robinson

Neurol Neuroimmunol Neuroinflamm· April 2015

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