Stefanie Perrier

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 · 45 citations · Full text

Medicine, Endocrinology, Endocrine Genetics +16

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

Medicine, Neurology, Neuroscience +17

POLR3-Related Leukodystrophy: Exploring Potential Therapeutic Approaches

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

Medicine, Neurology, Neuroscience +17

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

Stefanie Perrier, Laurence Gauquelin, Martine Tétreault et al. · Clinical Genetics · 2017 · 17 citations

Life Sciences, Genetics, Molecular Genetics +17

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

Medicine, Neurobiology, Neuroscience +12