Amyotrophic lateral sclerosis: new genes, new models, and new mechanisms

by Vande Velde, Christine, Dion, Patrick A., Rouleau, Guy A.
Published 2011

Deletion of C9ORF72 Results in Motor Neuron Degeneration and Stress Sensitivity in C. elegans

by Therrien, Martine, Rouleau, Guy A., Dion, Patrick A., Parker, J. Alex
Published 2013

Exome sequencing revealed PMM2 gene mutations in a French-Canadian family with congenital atrophy of the cerebellum

by Noreau, Anne, Beauchemin, Philippe, Dionne-Laporte, Alexandre, Dion, Patrick A, Rouleau, Guy A, Dupré, Nicolas
Published 2014

FET proteins regulate lifespan and neuronal integrity

by Therrien, Martine, Rouleau, Guy A., Dion, Patrick A., Parker, J. Alex
Published 2016

De novo FUS P525L mutation in Juvenile amyotrophic lateral sclerosis with dysphonia and diplopia

by Leblond, Claire S., Webber, Alina, Gan-Or, Ziv, Moore, Fraser, Dagher, Alain, Dion, Patrick A., Rouleau, Guy A.
Published 2016

Comparative Analysis of the Expression Profile of Wnk1 and Wnk1/Hsn2 Splice Variants in Developing and Adult Mouse Tissues

by Shekarabi, Masoud, Lafrenière, Ron G., Gaudet, Rébecca, Laganière, Janet, Marcinkiewicz, Martin M., Dion, Patrick A., Rouleau, Guy A.
Published 2013

WNK1/HSN2 Mutation in Human Peripheral Neuropathy Deregulates KCC2 Expression and Posterior Lateral Line Development in Zebrafish (Danio rerio)

by Bercier, Valérie, Brustein, Edna, Liao, Meijiang, Dion, Patrick A., Lafrenière, Ronald G., Rouleau, Guy A., Drapeau, Pierre
Published 2013

GBA p.T369M substitution in Parkinson disease: Polymorphism or association? A meta-analysis

by Mallett, Victoria, Ross, Jay P., Alcalay, Roy N., Ambalavanan, Amirthagowri, Sidransky, Ellen, Dion, Patrick A., Rouleau, Guy A., Gan-Or, Ziv
Published 2016

Potassium-Chloride Cotransporter 3 Interacts with Vav2 to Synchronize the Cell Volume Decrease Response with Cell Protrusion Dynamics

by Salin-Cantegrel, Adèle, Shekarabi, Masoud, Rasheed, Sarah, Charron, François M., Laganière, Janet, Gaudet, Rebecca, Dion, Patrick A., Lapointe, Jean-Yves, Rouleau, Guy A.
Published 2013

Investigation of rare variants in LRP1, KPNA1, ALS2CL and ZNF480 genes in schizophrenia patients reflects genetic heterogeneity of the disease

by Jouan, Loubna, Girard, Simon L, Dobrzeniecka, Sylvia, Ambalavanan, Amirthagowri, Krebs, Marie-Odile, Joober, Ridha, Gauthier, Julie, Dion, Patrick A, Rouleau, Guy A
Published 2013

Paternal Age Explains a Major Portion of De Novo Germline Mutation Rate Variability in Healthy Individuals

by Girard, Simon L., Bourassa, Cynthia V., Lemieux Perreault, Louis-Philippe, Legault, Marc-André, Barhdadi, Amina, Ambalavanan, Amirthagowri, Brendgen, Mara, Vitaro, Frank, Noreau, Anne, Dionne, Ginette, Tremblay, Richard E., Dion, Patrick A., Boivin, Michel, Dubé, Marie-Pierre, Rouleau, Guy A.
Published 2016

De novo variants in sporadic cases of childhood onset schizophrenia

by Ambalavanan, Amirthagowri, Girard, Simon L, Ahn, Kwangmi, Zhou, Sirui, Dionne-Laporte, Alexandre, Spiegelman, Dan, Bourassa, Cynthia V, Gauthier, Julie, Hamdan, Fadi F, Xiong, Lan, Dion, Patrick A, Joober, Ridha, Rapoport, Judith, Rouleau, Guy A
Published 2016

Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD

by Niblock, Michael, Smith, Bradley N., Lee, Youn-Bok, Sardone, Valentina, Topp, Simon, Troakes, Claire, Al-Sarraj, Safa, Leblond, Claire S., Dion, Patrick A., Rouleau, Guy A., Shaw, Christopher E., Gallo, Jean-Marc
Published 2016

Increased Missense Mutation Burden of Fatty Acid Metabolism Related Genes in Nunavik Inuit Population

by Zhou, Sirui, Xiong, Lan, Xie, Pingxing, Ambalavanan, Amirthagowri, Bourassa, Cynthia V., Dionne-Laporte, Alexandre, Spiegelman, Dan, Turcotte Gauthier, Maude, Henrion, Edouard, Diallo, Ousmane, Dion, Patrick A., Rouleau, Guy A.
Published 2015

Mutation Burden of Rare Variants in Schizophrenia Candidate Genes

by Girard, Simon L., Dion, Patrick A., Bourassa, Cynthia V., Geoffroy, Steve, Lachance-Touchette, Pamela, Barhdadi, Amina, Langlois, Mathieu, Joober, Ridha, Krebs, Marie-Odile, Dubé, Marie-Pierre, Rouleau, Guy A.
Published 2015

Early detection of structural abnormalities and cytoplasmic accumulation of TDP-43 in tissue-engineered skins derived from ALS patients

by Paré, Bastien, Touzel-Deschênes, Lydia, Lamontagne, Rémy, Lamarre, Marie-Soleil, Scott, François-Dominique, Khuong, Hélène T, Dion, Patrick A, Bouchard, Jean-Pierre, Gould, Peter, Rouleau, Guy A, Dupré, Nicolas, Berthod, François, Gros-Louis, François
Published 2015

Clinical and genetic study of hereditary spastic paraplegia in Canada

by Chrestian, Nicolas, Dupré, Nicolas, Gan-Or, Ziv, Szuto, Anna, Chen, Shiyi, Venkitachalam, Anil, Brisson, Jean-Denis, Warman-Chardon, Jodi, Ahmed, Sohnee, Ashtiani, Setareh, MacDonald, Heather, Mohsin, Noreen, Mourabit-Amari, Karim, Provencher, Pierre, Boycott, Kym M., Stavropoulos, Dimitri J., Dion, Patrick A., Ray, Peter N., Suchowersky, Oksana, Rouleau, Guy A., Yoon, Grace
Published 2016

GBA mutations are associated with Rapid Eye Movement Sleep Behavior Disorder

by Gan-Or, Ziv, Mirelman, Anat, Postuma, Ronald B, Arnulf, Isabelle, Bar-Shira, Anat, Dauvilliers, Yves, Desautels, Alex, Gagnon, Jean-François, Leblond, Claire S, Frauscher, Birgit, Alcalay, Roy N, Saunders-Pullman, Rachel, Bressman, Susan B, Marder, Karen, Monaca, Christelle, Högl, Birgit, Orr-Urtreger, Avi, Dion, Patrick A, Montplaisir, Jacques Y, Giladi, Nir, Rouleau, Guy A
Published 2015

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

by Williams, Kelly L., Topp, Simon, Yang, Shu, Smith, Bradley, Fifita, Jennifer A., Warraich, Sadaf T., Zhang, Katharine Y., Farrawell, Natalie, Vance, Caroline, Hu, Xun, Chesi, Alessandra, Leblond, Claire S., Lee, Albert, Rayner, Stephanie L., Sundaramoorthy, Vinod, Dobson-Stone, Carol, Molloy, Mark P., van Blitterswijk, Marka, Dickson, Dennis W., Petersen, Ronald C., Graff-Radford, Neill R., Boeve, Bradley F., Murray, Melissa E., Pottier, Cyril, Don, Emily, Winnick, Claire, McCann, Emily P., Hogan, Alison, Daoud, Hussein, Levert, Annie, Dion, Patrick A., Mitsui, Jun, Ishiura, Hiroyuki, Takahashi, Yuji, Goto, Jun, Kost, Jason, Gellera, Cinzia, Gkazi, Athina Soragia, Miller, Jack, Stockton, Joanne, Brooks, William S., Boundy, Karyn, Polak, Meraida, Muñoz-Blanco, José Luis, Esteban-Pérez, Jesús, Rábano, Alberto, Hardiman, Orla, Morrison, Karen E., Ticozzi, Nicola, Silani, Vincenzo, de Belleroche, Jacqueline, Glass, Jonathan D., Kwok, John B. J., Guillemin, Gilles J., Chung, Roger S., Tsuji, Shoji, Brown, Robert H., García-Redondo, Alberto, Rademakers, Rosa, Landers, John E., Gitler, Aaron D., Rouleau, Guy A., Cole, Nicholas J., Yerbury, Justin J., Atkin, Julie D., Shaw, Christopher E., Nicholson, Garth A., Blair, Ian P.
Published 2016