Dma/RNF8 proteins are evolutionarily conserved E3 ubiquitin ligases that target septins

por Chahwan, Richard, Gravel, Serge, Matsusaka, Takahiro, Jackson, Stephen P.
Publicado 2013

RNF8 links nucleosomal and cytoskeletal ubiquitylation of higher order protein structures

por Chahwan, Richard, Gravel, Serge, Matsusaka, Takahiro, Jackson, Stephen P.
Publicado 2013

DNA damage checkpoint adaptation genes are required for division of cells harbouring eroded telomeres

por Mersaoui, Sofiane Y., Gravel, Serge, Karpov, Victor, Wellinger, Raymund J.
Publicado 2015

Methylmalonyl-coA epimerase deficiency: A new case, with an acute metabolic presentation and an intronic splicing mutation in the MCEE gene

por Waters, Paula J., Thuriot, Fanny, Clarke, Joe T.R., Gravel, Serge, Watkins, David, Rosenblatt, David S., Lévesque, Sébastien
Publicado 2016

Molecular Diagnosis of Pompe Disease in the Genomic Era: Correlation with Acid Alpha-Glucosidase Activity in Dried Blood Spots

por Thuriot, Fanny, Gravel, Elaine, Hodson, Katherine, Ganopolsky, Jorge, Rakic, Bojana, Waters, Paula J., Gravel, Serge, Lévesque, Sébastien
Publicado 2021

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

Molecular diagnosis of muscular diseases in outpatient clinics: A Canadian perspective

por Thuriot, Fanny, Gravel, Elaine, Buote, Caroline, Doyon, Marianne, Lapointe, Elvy, Marcoux, Lydia, Larue, Sandrine, Nadeau, Amélie, Chénier, Sébastien, Waters, Paula J., Jacques, Pierre-Étienne, Gravel, Serge, Lévesque, Sébastien
Publicado 2020