Concepedia

Stefanie Perrier

SP

Statistics

Publications

6

Citations

137

H-Index

6

Active since

2017

Affiliations

McGill University Health Centre(Current)

McGill University

Université de Montréal

Montreal Children's Hospital

Montreal Neurological Institute and Hospital

Stefanie Perrier is an author at McGill University Health Centre specializing in multiple sclerosis, neurology, and stem cells.

ORCID

Top concepts

Publications per year

2017–2023

6

Publications

6

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in <i>POLR3A</i>, <i>POLR3B</i>, and <i>POLR1C</i>

Félixe Pelletier, Stefanie Perrier, Ferdy Kurniawan Cayami et al. · The Journal of Clinical Endocrinology & Metabolism · 2020 · 42 citations · Full text

Expanding the phenotypic and molecular spectrum of RNA polymerase III–related leukodystrophy

Stefanie Perrier, Laurence Gauquelin, Catherine Fallet‐Bianco et al. · Neurology Genetics · 2020 · 36 citations · Full text

POLR3-Related Leukodystrophy: Exploring Potential Therapeutic Approaches

Stefanie Perrier, Mackenzie A. Michell‐Robinson, Geneviève Bernard · Frontiers in Cellular Neuroscience · 2021 · 18 citations · Full text

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Recessive mutations in <i><scp>NDUFA2</scp></i> cause mitochondrial leukoencephalopathy

Stefanie Perrier, Laurence Gauquelin, Martine Tétreault et al. · Clinical Genetics · 2017 · 16 citations

Protection From Radiation-Induced Neuroanatomic Deficits by CCL2 Deficiency Is Dependent on Sex

Aidee Guzman, Mashal Ahmed, Stefanie Perrier et al. · International Journal of Radiation Oncology*Biology*Physics · 2022 · 13 citations

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