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)

Somatic expansion of the C9orf72 hexanucleotide repeat does not occur in ALS spinal cord tissues

Por Ross, Jay P., Leblond, Claire S., Catoire, Hélène, Volkening, Kathryn, Strong, Michael, Zinman, Lorne, Robertson, Janice, Dion, Patrick A., Rouleau, Guy A.
Publicado no Neurol Genet (2019)

Heritability of the melatonin synthesis variability in autism spectrum disorders

Por Benabou, Marion, Rolland, Thomas, Leblond, Claire S., Millot, Gaël A., Huguet, Guillaume, Delorme, Richard, Leboyer, Marion, Pagan, Cécile, Callebert, Jacques, Maronde, Erik, Bourgeron, Thomas
Publicado no Sci Rep (2017)

Decreased phenol sulfotransferase activities associated with hyperserotonemia in autism spectrum disorders

Por Pagan, Cécile, Benabou, Marion, Leblond, Claire, Cliquet, Freddy, Mathieu, Alexandre, Lemière, Nathalie, Goubran-Botros, Hany, Delorme, Richard, Leboyer, Marion, Callebert, Jacques, Bourgeron, Thomas, Launay, Jean-Marie
Publicado no Transl Psychiatry (2021)

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)

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

Por 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
Publicado no Acta Neuropathol Commun (2016)

Social and non-social autism symptoms and trait domains are genetically dissociable

Por Warrier, Varun, Toro, Roberto, Won, Hyejung, Leblond, Claire S., Cliquet, Freddy, Delorme, Richard, De Witte, Ward, Bralten, Janita, Chakrabarti, Bhismadev, Børglum, Anders D., Grove, Jakob, Poelmans, Geert, Hinds, David A., Bourgeron, Thomas, Baron-Cohen, Simon
Publicado no Commun Biol (2019)

Variations of the Candidate SEZ6L2 Gene on Chromosome 16p11.2 in Patients with Autism Spectrum Disorders and in Human Populations

Por Konyukh, Marina, Delorme, Richard, Chaste, Pauline, Leblond, Claire, Lemière, Nathalie, Nygren, Gudrun, Anckarsäter, Henrik, Rastam, Maria, Ståhlberg, Ola, Amsellem, Frederique, Gillberg, I. Carina, Mouren-Simeoni, Marie Christine, Herbrecht, Evelyn, Fauchereau, Fabien, Toro, Roberto, Gillberg, Christopher, Leboyer, Marion, Bourgeron, Thomas
Publicado em 2011

No rare deleterious variants from STK32B, PPARGC1A, and CTNNA3 are associated with essential tremor

Por Houle, Gabrielle, Ambalavanan, Amirthagowri, Schmouth, Jean-François, Leblond, Claire S., Spiegelman, Dan, Laurent, Sandra B., Bourassa, Cynthia V., Grayson, Celene, Panisset, Michel, Chouinard, Sylvain, Dupré, Nicolas, Vilariño-Güell, Carles, Rajput, Alex, Girard, Simon L., Dion, Patrick A., Rouleau, Guy A.
Publicado no Neurol Genet (2017)

Altered spinogenesis in iPSC-derived cortical neurons from patients with autism carrying de novo SHANK3 mutations

Por Gouder, Laura, Vitrac, Aline, Goubran-Botros, Hany, Danckaert, Anne, Tinevez, Jean-Yves, André-Leroux, Gwenaëlle, Atanasova, Ekaterina, Lemière, Nathalie, Biton, Anne, Leblond, Claire S., Poulet, Aurélie, Boland, Anne, Deleuze, Jean-François, Benchoua, Alexandra, Delorme, Richard, Bourgeron, Thomas, Cloëz-Tayarani, Isabelle
Publicado no Sci Rep (2019)

Both rare and common genetic variants contribute to autism in the Faroe Islands

Por Leblond, Claire S, Cliquet, Freddy, Carton, Coralie, Huguet, Guillaume, Mathieu, Alexandre, Kergrohen, Thomas, Buratti, Julien, Lemière, Nathalie, Cuisset, Laurence, Bienvenu, Thierry, Boland, Anne, Deleuze, Jean-François, Stora, Tormodur, Biskupstoe, Rannva, Halling, Jónrit, Andorsdóttir, Guðrið, Billstedt, Eva, Gillberg, Christopher, Bourgeron, Thomas
Publicado no NPJ Genom Med (2019)

Heterozygous FA2H mutations in autism spectrum disorders

Por Scheid, Isabelle, Maruani, Anna, Huguet, Guillaume, Leblond, Claire S, Nygren, Gudrun, Anckarsäter, Henrik, Beggiato, Anita, Rastam, Maria, Amsellem, Fréderique, Gillberg, I Carina, Elmaleh, Monique, Leboyer, Marion, Gillberg, Christopher, Betancur, Catalina, Coleman, Mary, Hama, Hiroko, Cook, Edwin H, Bourgeron, Thomas, Delorme, Richard
Publicado no BMC Med Genet (2013)

Genetic markers of Restless Legs Syndrome in Parkinson Disease

Por Gan-Or, Ziv, Alcalay, Roy N., Bar-Shira, Anat, Leblond, Claire S., Postuma, Ron B., Ben-Shachar, Shay, Waters, Cheryl, Johnson, Amelie, Levy, Oren, Mirelman, Anat, Gana-Weisz, Mali, Dupre, Nicolas, Montplaisir, Jaques, Giladi, Nir, Fahn, Stanley, Xiong, Lan, Dion, Patrick A., Orr-Urtreger, Avi, Rouleau, Guy A.
Publicado no Parkinsonism Relat Disord (2015)

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)

GBA mutations are associated with Rapid Eye Movement Sleep Behavior Disorder

Por 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
Publicado no Ann Clin Transl Neurol (2015)

Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features

Por Rafiq, Muhammad Arshad, Leblond, Claire S, Saqib, Muhammad Arif Nadeem, Vincent, Akshita K., Ambalavanan, Amirthagowri, Khan, Falak Sher, Ayaz, Muhammad, Shaheen, Naseema, Spiegelman, Dan, Ali, Ghazanfar, Amin-ud-din, Muhammad, Laurent, Sandra, Mahmood, Huda, Christian, Mehtab, Ali, Nadir, Fennell, Alanna, Nanjiani, Zohair, Egger, Gerald, Caron, Chantal, Waqas, Ahmed, Ayub, Muhammad, Rasheed, Saima, Forgeot d’Arc, Baudouin, Johnson, Amelie, So, Joyce, Brohi, Muhammad Qasim, Mottron, Laurent, Ansar, Muhammad, Vincent, John B, Xiong, Lan
Publicado no BMC Med Genet (2015)

SHANK1 Deletions in Males with Autism Spectrum Disorder

Por Sato, Daisuke, Lionel, Anath C., Leblond, Claire S., Prasad, Aparna, Pinto, Dalila, Walker, Susan, O'Connor, Irene, Russell, Carolyn, Drmic, Irene E., Hamdan, Fadi F., Michaud, Jacques L., Endris, Volker, Roeth, Ralph, Delorme, Richard, Huguet, Guillaume, Leboyer, Marion, Rastam, Maria, Gillberg, Christopher, Lathrop, Mark, Stavropoulos, Dimitri J., Anagnostou, Evdokia, Weksberg, Rosanna, Fombonne, Eric, Zwaigenbaum, Lonnie, Fernandez, Bridget A., Roberts, Wendy, Rappold, Gudrun A., Marshall, Christian R., Bourgeron, Thomas, Szatmari, Peter, Scherer, Stephen W.
Publicado em 2012

SMPD1 mutations, activity and α-synuclein accumulation in Parkinson’s disease

Por Alcalay, Roy N., Mallett, Victoria, Vanderperre, Benoît, Tavassoly, Omid, Dauvilliers, Yves, Wu, Richard Y.J., Ruskey, Jennifer A., Leblond, Claire S., Ambalavanan, Amirthagowri, Laurent, Sandra B., Spiegelman, Dan, Dionne-Laporte, Alexandre, Liong, Christopher, Levy, Oren A., Fahn, Stanley, Waters, Cheryl, Kuo, Sheng-Han, Chung, Wendy K., Ford, Blair, Marder, Karen S., Kang, Un Jung, Hassin-Baer, Sharon, Greenbaum, Lior, Trempe, Jean-Francois, Wolf, Pavlina, Oliva, Petra, Zhang, Xiaokui Kate, Clark, Lorraine N., Langlois, Melanie, Dion, Patrick A., Fon, Edward A., Dupre, Nicolas, Rouleau, Guy A., Gan-Or, Ziv
Publicado no Mov Disord (2019)

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories

Por Akimoto, Chizuru, Volk, Alexander E, van Blitterswijk, Marka, Van den Broeck, Marleen, Leblond, Claire S, Lumbroso, Serge, Camu, William, Neitzel, Birgit, Onodera, Osamu, van Rheenen, Wouter, Pinto, Susana, Weber, Markus, Smith, Bradley, Proven, Melanie, Talbot, Kevin, Keagle, Pamela, Chesi, Alessandra, Ratti, Antonia, van der Zee, Julie, Alstermark, Helena, Birve, Anna, Calini, Daniela, Nordin, Angelica, Tradowsky, Daniela C, Just, Walter, Daoud, Hussein, Angerbauer, Sabrina, DeJesus-Hernandez, Mariely, Konno, Takuya, Lloyd-Jani, Anjali, de Carvalho, Mamede, Mouzat, Kevin, Landers, John E, Veldink, Jan H, Silani, Vincenzo, Gitler, Aaron D, Shaw, Christopher E, Rouleau, Guy A, van den Berg, Leonard H, Van Broeckhoven, Christine, Rademakers, Rosa, Andersen, Peter M, Kubisch, Christian
Publicado em 2014

Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders

Por Leblond, Claire S., Heinrich, Jutta, Delorme, Richard, Proepper, Christian, Betancur, Catalina, Huguet, Guillaume, Konyukh, Marina, Chaste, Pauline, Ey, Elodie, Rastam, Maria, Anckarsäter, Henrik, Nygren, Gudrun, Gillberg, I. Carina, Melke, Jonas, Toro, Roberto, Regnault, Beatrice, Fauchereau, Fabien, Mercati, Oriane, Lemière, Nathalie, Skuse, David, Poot, Martin, Holt, Richard, Monaco, Anthony P., Järvelä, Irma, Kantojärvi, Katri, Vanhala, Raija, Curran, Sarah, Collier, David A., Bolton, Patrick, Chiocchetti, Andreas, Klauck, Sabine M., Poustka, Fritz, Freitag, Christine M., Waltes, Regina, Kopp, Marnie, Duketis, Eftichia, Bacchelli, Elena, Minopoli, Fiorella, Ruta, Liliana, Battaglia, Agatino, Mazzone, Luigi, Maestrini, Elena, Sequeira, Ana F., Oliveira, Barbara, Vicente, Astrid, Oliveira, Guiomar, Pinto, Dalila, Scherer, Stephen W., Zelenika, Diana, Delepine, Marc, Lathrop, Mark, Bonneau, Dominique, Guinchat, Vincent, Devillard, Françoise, Assouline, Brigitte, Mouren, Marie-Christine, Leboyer, Marion, Gillberg, Christopher, Boeckers, Tobias M., Bourgeron, Thomas
Publicado em 2012