Genevieve Bernard
McGill University
H-index: 39
North America-Canada
Top articles of Genevieve Bernard
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
POLR3-related Leukodystrophy: A Qualitative Study on Parents’ Experiences with the Healthcare System | Adam Le KA Thibault Maxime Morsa G Bernard | 2024 | |
The 37TrillionCells initiative for improving global healthcare via cell-based interception and precision medicine: focus on neurodegenerative diseases | Benoit Coulombe Thomas M Durcan Geneviève Bernard Asmae Moursli Christian Poitras | 2024/12 | |
The Application of Interleukin-1 Antagonists in Patients With Megalencephalic Leukoencephalopathy With Subcortical Cysts: Caution Warranted | Pediatric neurology | Eline MC Hamilton Pinar Topaloglu Jigyasha Sinha Francesco Nicita Geneviève Bernard | 2024/1/1 |
Cover Image, Volume 72, Issue 6 | Glia | Valerio EC Piscopo Alexandra Chapleau Gabriela J Blaszczyk Julien Sirois Zhipeng You | 2024/6 |
The natural history of variable subtypes in pediatric-onset TUBB4A-related disorders | Molecular Genetics and Metabolism | Adeline Vanderver Francesco Gavazzi Brittany Charsar Jacqueline Erler Virali Patel | 2024/4/1 |
Newborn screening in metachromatic leukodystrophy–European consensus-based recommendations on clinical management | European journal of paediatric neurology | Lucia Laugwitz Daphne H Schoenmakers Laura A Adang Stefanie Beck-Woedl Caroline Bergner | 2024/3/1 |
Validation of GMFC-MLD scale as a measure of gross motor function in metachromatic leukodystrophy | Molecular Genetics and Metabolism | Sylvia Mutua Anjana Sevagamoorthy Francesco Gavazzi Nivedita Thakur Sarah Woidill | 2024/2/1 |
Gross Motor Function in Pediatric Onset TUBB4A-Related Leukodystrophy: GMFM-88 Performance and Validation of GMFC-MLD in TUBB4A | Journal of child neurology | Francesco Gavazzi Virali Patel Brittany Charsar Allan Glanzman Jacqueline Erler | 2023/8 |
Longitudinal Characterization of the Clinical Course of Intermediate-Severe Salla Disease | Pediatric Neurology | Alexandra Chapleau Amytice Mirchi Luan T Tran Chantal Poulin Geneviève Bernard | 2023/11/1 |
Cancer-associated fibroblasts in a 3D engineered tissue model induce tumor-like matrix stiffening and EMT transition | Biophysical Journal | Enola Bollmann Martial Millet Cassandra Ringuette Goulet Genevieve Bernard Stephane Chabaud | 2023/2/10 |
The Use of a SOX10 Reporter Towards Ameliorating Oligodendrocyte Lineage Differentiation from Human Induced Pluripotent Stem Cells | bioRxiv | Valerio EC Piscopo Alexandra Chapleau Gabriela J Blaszczyk Julien Sirois Zhipeng You | 2023 |
Decreased RNA polymerase III subunit expression leads to defects in oligodendrocyte development | Frontiers in Neuroscience | Julia Macintosh Mackenzie Michell-Robinson Xiaoru Chen Geneviève Bernard | 2023/4/25 |
Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review … | Ana Potic Stefanie Perrier Tijana Radovic Svetlana Gavrilovic Jelena Ostojic | 2023/7/13 | |
Biallelic pathogenic variants in POLR3D alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case report | Frontiers in Neurology | Julia Macintosh Stefanie Perrier Maxime Pinard Luan T Tran Kether Guerrero | 2023/10/13 |
Neuropathological characterization of the cavitating leukoencephalopathy caused by COA8 cytochrome c oxidase deficiency: a case report | Frontiers in Cellular Neuroscience | Alexandra Chapleau Renée-Myriam Boucher Tomi Pastinen Isabelle Thiffault Peter V Gould | 2023 |
Solving inherited white matter disorder etiologies in the neurology clinic: challenges and lessons learned using next-generation sequencing | Frontiers in Neurology | Stefanie Perrier Kether Guerrero Luan T Tran Mackenzie A Michell-Robinson Geneviève Legault | 2023/4/3 |
Updated interim safety, biomarker, and efficacy data from Imagine-1: A phase 1/2 open-label, multicenter study to assess the safety, tolerability, and efficacy of a single dose … | Molecular Genetics and Metabolism | Jeanine R Jarnes Caroline A Hastings Can H Ficicioglu Debra-Lynn Day-Salvatore Roberto Giugliani | 2023/2/1 |
A Recurrent De Novo Variant in EIF2AK2 Causes a Hypomyelinating Leukodystrophy | Child Neurology Open | Julia Macintosh Isabelle Thiffault Tomi Pastinen László Sztriha Geneviève Bernard | 2023/5 |
Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C | Journal of medical genetics | Amytice Mirchi Simon-Pierre Guay Luan T Tran Nicole I Wolf Adeline Vanderver | 2023/10/1 |
An optimized and validated protocol for the purification of PDGFRα+ oligodendrocyte precursor cells from mouse brain tissue via immunopanning | MethodsX | Julia Macintosh Mackenzie A Michell-Robinson Xiaoru Chen Daryan Chitsaz Timothy E Kennedy | 2023/1/1 |
