Identification and Classification of Rare Variants in NPC1 and NPC2 in Quebec

por Touma, Lahoud, Labrecque, Marjorie, Tetreault, Martine, Duquette, Antoine
Publicado 2021

Estimated prevalence of Niemann–Pick type C disease in Quebec

por Labrecque, Marjorie, Touma, Lahoud, Bhérer, Claude, Duquette, Antoine, Tétreault, Martine
Publicado 2021

Concordance between whole‐exome sequencing and clinical Sanger sequencing: implications for patient care

por Hamilton, Alison, Tétreault, Martine, Dyment, David A., Zou, Ruobing, Kernohan, Kristin, Geraghty, Michael T., Hartley, Taila, Boycott, Kym M.
Publicado 2016

Beyond Homozygosity Mapping: Family-Control analysis based on Hamming distance for prioritizing variants in exome sequencing

por Imai, Atsuko, Nakaya, Akihiro, Fahiminiya, Somayyeh, Tétreault, Martine, Majewski, Jacek, Sakata, Yasushi, Takashima, Seiji, Lathrop, Mark, Ott, Jurg
Publicado 2015

Homozygous pathogenic variant in BRAT1 associated with nonprogressive cerebellar ataxia

por Mahjoub, Areej, Cihlarova, Zuzana, Tétreault, Martine, MacNeil, Lauren, Sondheimer, Neal, Caldecott, Keith W., Hanzlikova, Hana, Yoon, Grace
Publicado 2019

Fatty acids derived from the probiotic Lacticaseibacillus rhamnosus HA-114 suppress age-dependent neurodegeneration

por Labarre, Audrey, Guitard, Ericka, Tossing, Gilles, Forest, Anik, Bareke, Eric, Labrecque, Marjorie, Tétreault, Martine, Ruiz, Matthieu, Alex Parker, J.
Publicado 2022

Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disabi...

por Kernohan, Kristin D., Tétreault, Martine, Liwak-Muir, Urszula, Geraghty, Michael T., Qin, Wen, Venkateswaran, Sunita, Davila, Jorge, Holcik, Martin, Majewski, Jacek, Richer, Julie, Boycott, Kym M.
Publicado 2015

Novel homozygous nonsense mutation of MLIP and compensatory alternative splicing

por Mezreani, Jean, Audet, Sébastien, Martin, Florence, Charbonneau, Jade, Triassi, Valérie, Bareke, Eric, Laplante, Annie, Karamchandani, Jason, Massie, Rami, Chalk, Colin H., O’Ferrall, Erin, Tétreault, Martine
Publicado 2022

Author Correction: Stearoyl-CoA Desaturase inhibition reverses immune, synaptic and cognitive impairments in an Alzheimer’s disease mouse model

por Hamilton, Laura K., Moquin-Beaudry, Gaël, Mangahas, Chenicka L., Pratesi, Federico, Aubin, Myriam, Aumont, Anne, Joppé, Sandra E., Légiot, Alexandre, Vachon, Annick, Plourde, Mélanie, Mounier, Catherine, Tétreault, Martine, Fernandes, Karl J. L.
Publicado 2023

Stearoyl-CoA Desaturase inhibition reverses immune, synaptic and cognitive impairments in an Alzheimer’s disease mouse model

por Hamilton, Laura K., Moquin-Beaudry, Gaël, Mangahas, Chenicka L., Pratesi, Federico, Aubin, Myriam, Aumont, Anne, Joppé, Sandra E., Légiot, Alexandre, Vachon, Annick, Plourde, Mélanie, Mounier, Catherine, Tétreault, Martine, Fernandes, Karl J. L.
Publicado 2022

XRCC1 Mutation is Associated with PARP1 Hyperactivation and Cerebellar Ataxia

por Hoch, Nicolas, Hanzlikova, Hana, Rulten, Stuart L., Tétreault, Martine, Koumulainen, Emilia, Ju, Limei, Hornyak, Peter, Zeng, Zhihong, Gittens, William, Rey, Stephanie, Staras, Kevin, Mancini, Grazia M.S., McKinnon, Peter J., Wang, Zhao-Qi, Wagner, Justin, Yoon, Grace, Caldecott, Keith W.
Publicado 2016

Clinical, biochemical, and genetic features of four patients with short‐chain enoyl‐CoA hydratase (ECHS1) deficiency

por Fitzsimons, Patricia E., Alston, Charlotte L., Bonnen, Penelope E., Hughes, Joanne, Crushell, Ellen, Geraghty, Michael T., Tetreault, Martine, O'Reilly, Peter, Twomey, Eilish, Sheikh, Yusra, Walsh, Richard, Waterham, Hans R., Ferdinandusse, Sacha, Wanders, Ronald J. A., Taylor, Robert W., Pitt, James J., Mayne, Philip D.
Publicado 2018

Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans

por Bayat, Vafa, Thiffault, Isabelle, Jaiswal, Manish, Tétreault, Martine, Donti, Taraka, Sasarman, Florin, Bernard, Geneviève, Demers-Lamarche, Julie, Dicaire, Marie-Josée, Mathieu, Jean, Vanasse, Michel, Bouchard, Jean-Pierre, Rioux, Marie-France, Lourenco, Charles M., Li, Zhihong, Haueter, Claire, Shoubridge, Eric A., Graham, Brett H., Brais, Bernard, Bellen, Hugo J.
Publicado 2012

TDP-43 stabilizes G3BP1 mRNA: relevance to amyotrophic lateral sclerosis/frontotemporal dementia

por Sidibé, Hadjara, Khalfallah, Yousra, Xiao, Shangxi, Gómez, Nicolás B, Fakim, Hana, Tank, Elizabeth M H, Di Tomasso, Geneviève, Bareke, Eric, Aulas, Anaïs, McKeever, Paul M, Melamed, Ze’ev, Destroimaisons, Laurie, Deshaies, Jade-Emmanuelle, Zinman, Lorne, Parker, J Alex, Legault, Pascale, Tétreault, Martine, Barmada, Sami J, Robertson, Janice, Vande Velde, Christine
Publicado 2021

OR04-4 Loss of KDM1A in Bilateral Macronodular Adrenal Hyperplasia With GIP-Dependent Cushing's Syndrome and in Acromegaly With Paradoxical GH Response to Oral Glucose

por Amazit, Larbi, Barbot, Mattia, Beau, Isabelle, Bouligand, Jérôme, Bourdeau, Isabelle, Chanson, Philippe, Cloix, Lucie, Corbeil, Gilles, de Herder, Wouter, Deméocq, Vianney, Desailloud, Rachel, Dumontet, Charles, Dupeux, Margot, Emy, Philippe, Fiore, Frederic, Guiochon-Mantel, Anne, Kamenicky, Peter, Lacroix, André, Ladurelle, Nataly, Lambert, Benoit, Lecoq, Anne-Lise, Lefebvre, Hervé, Maiter, Dominique, Pattou, Francois, Proust, Alexis, Regazzo, Daniela, Salenave, Sylvie, Scaroni, Carla, Scharfmann, Raphael, Tabarin, Antoine, Tachdjian, Gerard, Tetreault, Martine, Tosca, Lucie, Tsagarakis, Stylianos, Vassiliadi, Dimitra, Vezzosi, Delphine, Viengchareun, Say, Young, Jacques, Chasseloup, Fanny
Publicado 2022

Integrated immunovirological profiling validates plasma SARS-CoV-2 RNA as an early predictor of COVID-19 mortality

por Brunet-Ratnasingham, Elsa, Anand, Sai Priya, Gantner, Pierre, Dyachenko, Alina, Moquin-Beaudry, Gaël, Brassard, Nathalie, Beaudoin-Bussières, Guillaume, Pagliuzza, Amélie, Gasser, Romain, Benlarbi, Mehdi, Point, Floriane, Prévost, Jérémie, Laumaea, Annemarie, Niessl, Julia, Nayrac, Manon, Sannier, Gérémy, Orban, Catherine, Messier-Peet, Marc, Butler-Laporte, Guillaume, Morrison, David R., Zhou, Sirui, Nakanishi, Tomoko, Boutin, Marianne, Descôteaux-Dinelle, Jade, Gendron-Lepage, Gabrielle, Goyette, Guillaume, Bourassa, Catherine, Medjahed, Halima, Laurent, Laetitia, Rébillard, Rose-Marie, Richard, Jonathan, Dubé, Mathieu, Fromentin, Rémi, Arbour, Nathalie, Prat, Alexandre, Larochelle, Catherine, Durand, Madeleine, Richards, J. Brent, Chassé, Michaël, Tétreault, Martine, Chomont, Nicolas, Finzi, Andrés, Kaufmann, Daniel E.
Publicado 2021