Genetic perspective on the role of the autophagy-lysosome pathway in Parkinson disease

Por Gan-Or, Ziv, Dion, Patrick A, Rouleau, Guy A
Publicado no Autophagy (2015)

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

Por Vande Velde, Christine, Dion, Patrick A., Rouleau, Guy A.
Publicado em 2011

The FUS about arginine methylation in ALS and FTLD

Por Kaneb, Hannah M, Dion, Patrick A, Rouleau, Guy A
Publicado em 2012

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

Por Therrien, Martine, Rouleau, Guy A., Dion, Patrick A., Parker, J. Alex
Publicado em 2013

FET proteins regulate lifespan and neuronal integrity

Por Therrien, Martine, Rouleau, Guy A., Dion, Patrick A., Parker, J. Alex
Publicado no Sci Rep (2016)

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

Por Noreau, Anne, Beauchemin, Philippe, Dionne-Laporte, Alexandre, Dion, Patrick A, Rouleau, Guy A, Dupré, Nicolas
Publicado no Cerebellum Ataxias (2014)

Genetic analysis of SIGMAR1 as a cause of familial ALS with dementia

Por Belzil, Véronique V, Daoud, Hussein, Camu, William, Strong, Michael J, Dion, Patrick A, Rouleau, Guy A
Publicado em 2013

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

Por Leblond, Claire S., Webber, Alina, Gan-Or, Ziv, Moore, Fraser, Dagher, Alain, Dion, Patrick A., Rouleau, Guy A.
Publicado no Neurol Genet (2016)

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

Por Bercier, Valérie, Brustein, Edna, Liao, Meijiang, Dion, Patrick A., Lafrenière, Ronald G., Rouleau, Guy A., Drapeau, Pierre
Publicado em 2013

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

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

Analysis of the effects of rare variants on splicing identifies alterations in GABA(A) receptor genes in autism spectrum disorder individuals

Por Piton, Amélie, Jouan, Loubna, Rochefort, Daniel, Dobrzeniecka, Sylvia, Lachapelle, Karine, Dion, Patrick A, Gauthier, Julie, Rouleau, Guy A
Publicado em 2013

Regulatory domain or CpG site variation in SLC12A5, encoding the chloride transporter KCC2, in human autism and schizophrenia

Por Merner, Nancy D., Chandler, Madison R., Bourassa, Cynthia, Liang, Bo, Khanna, Arjun R., Dion, Patrick, Rouleau, Guy A., Kahle, Kristopher T.
Publicado no Front Cell Neurosci (2015)

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

Por Mallett, Victoria, Ross, Jay P., Alcalay, Roy N., Ambalavanan, Amirthagowri, Sidransky, Ellen, Dion, Patrick A., Rouleau, Guy A., Gan-Or, Ziv
Publicado no Neurol Genet (2016)

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

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

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

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

Myc Is an Essential Negative Regulator of Platelet-Derived Growth Factor Beta Receptor Expression

Por Oster, Sara K., Marhin, Wilson W., Asker, Charlotte, Facchini, Linda M., Dion, Patrick A., Funa, Keiko, Post, Martin, Sedivy, John M., Penn, Linda Z.
Publicado em 2000

Mutations in the KIAA0196 Gene at the SPG8 Locus Cause Hereditary Spastic Paraplegia

Por Valdmanis, Paul N., Meijer, Inge A., Reynolds, Annie, Lei, Adrienne, MacLeod, Patrick, Schlesinger, David, Zatz, Mayana, Reid, Evan, Dion, Patrick A., Drapeau, Pierre, Rouleau, Guy A.
Publicado em 2007

LINGO1 Variants in the French-Canadian Population

Por Bourassa, Cynthia V., Rivière, Jean-Baptiste, Dion, Patrick A., Bernard, Geneviève, Diab, Sabrina, Panisset, Michel, Chouinard, Sylvain, Dupré, Nicolas, Fournier, Hélène, Raelson, John, Belouchi, Majid, Rouleau, Guy A.
Publicado em 2011

Identification of rare protein disulfide isomerase gene variants in amyotrophic lateral sclerosis patients

Por Gonzalez-Perez, Paloma, Woehlbier, Ute, Chian, Ru-Ju, Sapp, Peter, Rouleau, Guy A., Leblond, Claire S., Daoud, Hussein, Dion, Patrick A., Landers, John E., Hetz, Claudio, Brown, Robert H.
Publicado no Gene (2015)

C9orf72 repeat expansions are a rare genetic cause of parkinsonism

Por Lesage, Suzanne, Le Ber, Isabelle, Condroyer, Christel, Broussolle, Emmanuel, Gabelle, Audrey, Thobois, Stéphane, Pasquier, Florence, Mondon, Karl, Dion, Patrick A., Rochefort, Daniel, Rouleau, Guy A., Dürr, Alexandra, Brice, Alexis
Publicado em 2013