Classifying Hypomyelination: A Critical (White) Matter

por Perrier, Stefanie, Matovic, Sara, Bernard, Geneviève
Publicado 2020

Endocrine Aspects of 4H Leukodystrophy: A Case Report and Review of the Literature

por Billington, Emma, Bernard, Geneviève, Gibson, William, Corenblum, Bernard
Publicado 2015

The Movement Disorder of Brain-Lung-Thyroid Syndrome Can be Responsive to Methylphenidate

por Gauquelin, Laurence, Tran, Luan T., Chouinard, Sylvain, Bernard, Geneviève
Publicado 2017

POLR3-Related Leukodystrophy: Exploring Potential Therapeutic Approaches

por Perrier, Stefanie, Michell-Robinson, Mackenzie A., Bernard, Geneviève
Publicado 2021

Decreased RNA polymerase III subunit expression leads to defects in oligodendrocyte development

por Macintosh, Julia, Michell-Robinson, Mackenzie, Chen, Xiaoru, Bernard, Geneviève
Publicado 2023

A Recurrent De Novo Variant in EIF2AK2 Causes a Hypomyelinating Leukodystrophy

por Macintosh, Julia, Thiffault, Isabelle, Pastinen, Tomi, Sztriha, László, Bernard, Geneviève
Publicado 2023

Patient-Derived Stem Cells, Another in vitro Model, or the Missing Link Toward Novel Therapies for Autism Spectrum Disorders?

por Maussion, Gilles, Rocha, Cecilia, Bernard, Geneviève, Beitel, Lenore K., Durcan, Thomas M.
Publicado 2019

RNA Polymerase III Subunit Mutations in Genetic Diseases

por Lata, Elisabeth, Choquet, Karine, Sagliocco, Francis, Brais, Bernard, Bernard, Geneviève, Teichmann, Martin
Publicado 2021

Increased Prevalence of Non-motor Symptoms in Essential Tremor

por Lacerte, Annie, Chouinard, Sylvain, Jodoin, Nicolas, Bernard, Geneviève, Rouleau, Guy A., Panisset, Michel
Publicado 2014

4H leukodystrophy: Mild clinical phenotype and comorbidity with multiple sclerosis

por DeGasperis, Stephanie M., Bernard, Geneviève, Wolf, Nicole I., Miller, Elka, Pohl, Daniela
Publicado 2020

Riluzole partially restores RNA polymerase III complex assembly in cells expressing the leukodystrophy-causative variant POLR3B R103H

por Pinard, Maxime, Dastpeyman, Samaneh, Poitras, Christian, Bernard, Geneviève, Gauthier, Marie-Soleil, Coulombe, Benoit
Publicado 2022

Neuropathological characterization of the cavitating leukoencephalopathy caused by COA8 cytochrome c oxidase deficiency: a case report

por Chapleau, Alexandra, Boucher, Renée-Myriam, Pastinen, Tomi, Thiffault, Isabelle, Gould, Peter V., Bernard, Geneviève
Publicado 2023

POLR3-related leukodystrophy: How do mutations affecting RNA polymerase III subunits cause hypomyelination?

por Coulombe, Benoit, Derksen, Alexa, La Piana, Roberta, Brais, Bernard, Gauthier, Marie-Soleil, Bernard, Geneviève
Publicado 2021

Cancer-associated fibroblasts induce epithelial–mesenchymal transition of bladder cancer cells through paracrine IL-6 signalling

por Goulet, Cassandra Ringuette, Champagne, Audrey, Bernard, Geneviève, Vandal, Dominique, Chabaud, Stéphane, Pouliot, Frédéric, Bolduc, Stéphane
Publicado 2019

An optimized and validated protocol for the purification of PDGFRα+ oligodendrocyte precursor cells from mouse brain tissue via immunopanning

por Macintosh, Julia, Michell-Robinson, Mackenzie A., Chen, Xiaoru, Chitsaz, Daryan, Kennedy, Timothy E., Bernard, Geneviève
Publicado 2023

Neurogenic bladder and neuroendocrine abnormalities in Pol III-related leukodystrophy

por Potic, Ana, Popovic, Vera, Ostojic, Jelena, Pekic, Sandra, Kozic, Dusko, Guerrero, Kether, Schiffmann, Raphael, Bernard, Geneviève
Publicado 2015

A Novel De Novo Variant in DYNC1H1 Causes Spinal Muscular Atrophy Lower Extremity Predominant in Identical Twins: A Case Report

por Derksen, Alexa, Mirchi, Amytice, Tran, Luan T., Cao-Lei, Lei, Oskoui, Maryam, Srour, Myriam, Poulin, Chantal, Bernard, Geneviève
Publicado 2021

Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature

por Potic, Ana, Perrier, Stefanie, Radovic, Tijana, Gavrilovic, Svetlana, Ostojic, Jelena, Tran, Luan T., Thiffault, Isabelle, Pastinen, Tomi, Schiffmann, Raphael, Bernard, Geneviève
Publicado 2023

HSD10 mitochondrial disease: p.Leu122Val variant, mild clinical phenotype, and founder effect in French‐Canadian patients from Quebec

por Waters, Paula J., Lace, Baiba, Buhas, Daniela, Gravel, Serge, Cyr, Denis, Boucher, Renée‐Myriam, Bernard, Geneviève, Lévesque, Sébastien, Maranda, Bruno
Publicado 2019

Cancer-Associated Fibroblasts in a 3D Engineered Tissue Model Induce Tumor-like Matrix Stiffening and EMT Transition

por Millet, Martial, Bollmann, Enola, Ringuette Goulet, Cassandra, Bernard, Geneviève, Chabaud, Stéphane, Huot, Marc-Étienne, Pouliot, Frédéric, Bolduc, Stéphane, Bordeleau, François
Publicado 2022