Pure hereditary spastic paraplegia due to a de-novo mutation in the NIPA1 gene

Por Arkadir, David, Noreau, Anne, Goldman, Jill S., Rouleau, Guy A., Alcalay, Roy N.
Publicado em 2013

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)

Dopamine transporter SLC6A3 genotype affects cortico-striatal activity of set-shifts in Parkinson’s disease

Por Habak, Claudine, Noreau, Anne, Nagano-Saito, Atsuko, Mejía-Constaín, Beatriz, Degroot, Clotilde, Strafella, Antonio P., Chouinard, Sylvain, Lafontaine, Anne-Louise, Rouleau, Guy A., Monchi, Oury
Publicado em 2014

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

Por 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.
Publicado no PLoS One (2016)

Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia

Por Gauthier, Julie, Siddiqui, Tabrez J., Huashan, Peng, Yokomaku, Daisaku, Hamdan, Fadi F., Champagne, Nathalie, Lapointe, Mathieu, Spiegelman, Dan, Noreau, Anne, Lafrenière, Ronald G., Fathalli, Ferid, Joober, Ridha, Krebs, Marie-Odile, DeLisi, Lynn E., Mottron, Laurent, Fombonne, Éric, Michaud, Jacques L., Drapeau, Pierre, Carbonetto, Salvatore, Craig, Ann Marie, Rouleau, Guy A.
Publicado em 2011

Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis

Por Kaneb, Hannah M., Folkmann, Andrew W., Belzil, Véronique V., Jao, Li-En, Leblond, Claire S., Girard, Simon L., Daoud, Hussein, Noreau, Anne, Rochefort, Daniel, Hince, Pascale, Szuto, Anna, Levert, Annie, Vidal, Sabrina, André-Guimont, Catherine, Camu, William, Bouchard, Jean-Pierre, Dupré, Nicolas, Rouleau, Guy A., Wente, Susan R., Dion, Patrick A.
Publicado no Hum Mol Genet (2015)

Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor

Por Merner, Nancy D., Girard, Simon L., Catoire, Hélène, Bourassa, Cynthia V., Belzil, Véronique V., Rivière, Jean-Baptiste, Hince, Pascale, Levert, Annie, Dionne-Laporte, Alexandre, Spiegelman, Dan, Noreau, Anne, Diab, Sabrina, Szuto, Anna, Fournier, Hélène, Raelson, John, Belouchi, Majid, Panisset, Michel, Cossette, Patrick, Dupré, Nicolas, Bernard, Geneviève, Chouinard, Sylvain, Dion, Patrick A., Rouleau, Guy A.
Publicado em 2012

Loss of Association of REEP2 with Membranes Leads to Hereditary Spastic Paraplegia

Por Esteves, Typhaine, Durr, Alexandra, Mundwiller, Emeline, Loureiro, José L., Boutry, Maxime, Gonzalez, Michael A., Gauthier, Julie, El-Hachimi, Khalid H., Depienne, Christel, Muriel, Marie-Paule, Acosta Lebrigio, Rafael F., Gaussen, Marion, Noreau, Anne, Speziani, Fiorella, Dionne-Laporte, Alexandre, Deleuze, Jean-François, Dion, Patrick, Coutinho, Paula, Rouleau, Guy A., Zuchner, Stephan, Brice, Alexis, Stevanin, Giovanni, Darios, Frédéric
Publicado em 2014

Mutations in SYNGAP1 in Autosomal Nonsyndromic Mental Retardation

Por Hamdan, Fadi F., Gauthier, Julie, Spiegelman, Dan, Noreau, Anne, Yang, Yan, Pellerin, Stéphanie, Dobrzeniecka, Sylvia, Côté, Mélanie, Perreau-Linck, Elizabeth, Carmant, Lionel, D’Anjou, Guy, Fombonne, Éric, Addington, Anjene M., Rapoport, Judith L., Delisi, Lynn E., Krebs, Marie-Odile, Mouaffak, Faycal, Joober, Ridha, Mottron, Laurent, Drapeau, Pierre, Marineau, Claude, Lafrenière, Ronald G., Lacaille, Jean Claude, Rouleau, Guy A., Michaud, Jacques L.
Publicado em 2009

De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia

Por Gauthier, Julie, Champagne, Nathalie, Lafrenière, Ronald G., Xiong, Lan, Spiegelman, Dan, Brustein, Edna, Lapointe, Mathieu, Peng, Huashan, Côté, Mélanie, Noreau, Anne, Hamdan, Fadi F., Addington, Anjené M., Rapoport, Judith L., DeLisi, Lynn E., Krebs, Marie-Odile, Joober, Ridha, Fathalli, Ferid, Mouaffak, Fayçal, Haghighi, Ali P., Néri, Christian, Dubé, Marie-Pierre, Samuels, Mark E., Marineau, Claude, Stone, Eric A., Awadalla, Philip, Barker, Philip A., Carbonetto, Salvatore, Drapeau, Pierre, Rouleau, Guy A.
Publicado em 2010

Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia

Por Boukhris, Amir, Schule, Rebecca, Loureiro, José L., Lourenço, Charles Marques, Mundwiller, Emeline, Gonzalez, Michael A., Charles, Perrine, Gauthier, Julie, Rekik, Imen, Acosta Lebrigio, Rafael F., Gaussen, Marion, Speziani, Fiorella, Ferbert, Andreas, Feki, Imed, Caballero-Oteyza, Andrés, Dionne-Laporte, Alexandre, Amri, Mohamed, Noreau, Anne, Forlani, Sylvie, Cruz, Vitor T., Mochel, Fanny, Coutinho, Paula, Dion, Patrick, Mhiri, Chokri, Schols, Ludger, Pouget, Jean, Darios, Frédéric, Rouleau, Guy A., Marques, Wilson, Brice, Alexis, Durr, Alexandra, Zuchner, Stephan, Stevanin, Giovanni
Publicado em 2013