Stefanie Perrier (S Perrier)

Years Active: 2017-2023
Publications (10 Years): 5

McGill University (PHD)

This page only lists publications with an associated author ORCID identifier.

Education History

McGill University Sep 01 2016

Canada

PHD :: Neurology and Neurosurgery

Publications

Mackenzie A Michell-Robinson, Kristin E N Watt, Vladimir Grouza, Julia Macintosh, Maxime Pinard, Marius Tuznik, Xiaoru Chen, Lama Darbelli, Chia-Lun Wu, Stefanie Perrier, Daryan Chitsaz, Nonthué A Uccelli, Hanwen Liu, Timothy C Cox, Christoph W Müller, Timothy E Kennedy, Benoit Coulombe, David A Rudko, Paul A Trainor, Geneviève Bernard
Hypomyelination, hypodontia and craniofacial abnormalities in a Polr3b mouse model of leukodystrophy. Brain : a journal of neurology (2023)
Mackenzie A Michell-Robinson, Stefanie Perrier, Cassandra Lucia, Luan T Tran, Isabelle Thiffault, Wolfgang Köhler, Geneviève Bernard
Oculodentodigital Dysplasia: A Cause of Hypomyelinating Leukodystrophy in Adults. Neurology 98 (16) (2022)
Stefanie Perrier, Laurence Gauquelin, Jennifer A Wambach, Geneviève Bernard
Distinguishing severe phenotypes associated with pathogenic variants in POLR3A. American journal of medical genetics. Part A (2021)
Stefanie Perrier, Sara Matovic, Geneviève Bernard
Classifying Hypomyelination: A Critical (White) Matter. Child neurology open 7 (2020)
Stefanie Perrier, L Gauquelin, M Tétreault, L T Tran, N Webb, M Srour, J J Mitchell, C Brunel-Guitton, J Majewski, V Long, S Keller, M J Gambello, C Simons, null null, A Vanderver, G Bernard
Recessive mutations in NDUFA2 cause mitochondrial leukoencephalopathy. Clinical genetics 93 (2) (2017)

Stefanie Perrier.css-eqlu8i{font-size:small;padding-left:4px;} (S Perrier)