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

著者: Leblond, Claire S., Webber, Alina, Gan-Or, Ziv, Moore, Fraser, Dagher, Alain, Dion, Patrick A., Rouleau, Guy A.
出版年 Neurol Genet (2016)

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

著者: Ross, Jay P., Leblond, Claire S., Catoire, Hélène, Volkening, Kathryn, Strong, Michael, Zinman, Lorne, Robertson, Janice, Dion, Patrick A., Rouleau, Guy A.
出版年 Neurol Genet (2019)

Heritability of the melatonin synthesis variability in autism spectrum disorders

著者: Benabou, Marion, Rolland, Thomas, Leblond, Claire S., Millot, Gaël A., Huguet, Guillaume, Delorme, Richard, Leboyer, Marion, Pagan, Cécile, Callebert, Jacques, Maronde, Erik, Bourgeron, Thomas
出版年 Sci Rep (2017)

Decreased phenol sulfotransferase activities associated with hyperserotonemia in autism spectrum disorders

著者: 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
出版年 Transl Psychiatry (2021)

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

著者: 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.
出版年 Gene (2015)

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

著者: 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
出版年 Acta Neuropathol Commun (2016)

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

著者: 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
出版年 Commun Biol (2019)

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

著者: 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
出版事項 2011

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

著者: 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.
出版年 Neurol Genet (2017)

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

著者: 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
出版年 Sci Rep (2019)

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

著者: 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
出版年 NPJ Genom Med (2019)

Heterozygous FA2H mutations in autism spectrum disorders

著者: 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
出版年 BMC Med Genet (2013)

Genetic markers of Restless Legs Syndrome in Parkinson Disease

著者: 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.
出版年 Parkinsonism Relat Disord (2015)

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

著者: 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.
出版年 Hum Mol Genet (2015)

GBA mutations are associated with Rapid Eye Movement Sleep Behavior Disorder

著者: 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
出版年 Ann Clin Transl Neurol (2015)

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

著者: 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
出版年 BMC Med Genet (2015)

SHANK1 Deletions in Males with Autism Spectrum Disorder

著者: 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.
出版事項 2012

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

著者: 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
出版年 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

著者: 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
出版事項 2014

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

著者: 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
出版事項 2012