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

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

The Experience of Parents of Children With Genetically Determined Leukoencephalopathies With the Health Care System: A Qualitative Study

por Yazdani, Pouneh Amir, St-Jean, Marie-Lou, Matovic, Sara, Spahr, Aaron, Tran, Luan T., Boucher, Renée-Myriam, Poulin, Chantal, Osterman, Bradley, Srour, Myriam, Rosenblatt, Bernard, Chénier, Sébastien, Soucy, Jean-Francois, Laberge, Anne-Marie, D’Agostino, Maria Daniela, Nguyen, Cam-Tu Emilie, Morsa, Maxime, Bernard, Geneviève
Publicado 2023