Effects of stress and aversion on dopamine neurons: Implications for addiction
Ungless, Mark A., Argilli, Emanuela, Bonci, Antonello
Published in Neuroscience and biobehavioral reviews (01.11.2010)
Published in Neuroscience and biobehavioral reviews (01.11.2010)
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Journal Article
Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X
Leitão, Elsa, Schröder, Christopher, Parenti, Ilaria, Dalle, Carine, Rastetter, Agnès, Kühnel, Theresa, Kuechler, Alma, Kaya, Sabine, Gérard, Bénédicte, Schaefer, Elise, Nava, Caroline, Drouot, Nathalie, Engel, Camille, Piard, Juliette, Duban-Bedu, Bénédicte, Villard, Laurent, Stegmann, Alexander P. A., Vanhoutte, Els K., Verdonschot, Job A. J., Kaiser, Frank J., Tran Mau-Them, Frédéric, Scala, Marcello, Striano, Pasquale, Frints, Suzanna G. M., Argilli, Emanuela, Sherr, Elliott H., Elder, Fikret, Buratti, Julien, Keren, Boris, Mignot, Cyril, Héron, Delphine, Mandel, Jean-Louis, Gecz, Jozef, Kalscheuer, Vera M., Horsthemke, Bernhard, Piton, Amélie, Depienne, Christel
Published in Nature communications (02.11.2022)
Published in Nature communications (02.11.2022)
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Journal Article
Role of NMDA Receptors in Dopamine Neurons for Plasticity and Addictive Behaviors
Zweifel, Larry S., Argilli, Emanuela, Bonci, Antonello, Palmiter, Richard D.
Published in Neuron (Cambridge, Mass.) (14.08.2008)
Published in Neuron (Cambridge, Mass.) (14.08.2008)
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Journal Article
De novo CLCN3 variants affecting Gly327 cause severe neurodevelopmental syndrome with brain structural abnormalities
Nakashima, Mitsuko, Argilli, Emanuela, Nakano, Sayaka, Sherr, Elliott H, Kato, Mitsuhiro, Saitsu, Hirotomo
Published in Journal of human genetics (01.04.2023)
Published in Journal of human genetics (01.04.2023)
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Journal Article
Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders
Duncan, Anna R., Polovitskaya, Maya M., Gaitán-Peñas, Héctor, Bertelli, Sara, VanNoy, Grace E., Grant, Patricia E., O’Donnell-Luria, Anne, Valivullah, Zaheer, Lovgren, Alysia Kern, England, Elaina M., Agolini, Emanuele, Madden, Jill A., Schmitz-Abe, Klaus, Kritzer, Amy, Hawley, Pamela, Novelli, Antonio, Alfieri, Paolo, Colafati, Giovanna Stefania, Wieczorek, Dagmar, Platzer, Konrad, Luppe, Johannes, Koch-Hogrebe, Margarete, Abou Jamra, Rami, Neira-Fresneda, Juanita, Lehman, Anna, Boerkoel, Cornelius F., Seath, Kimberly, Clarke, Lorne, van Ierland, Yvette, Argilli, Emanuela, Sherr, Elliott H., Maiorana, Andrea, Diel, Thilo, Hempel, Maja, Bierhals, Tatjana, Estévez, Raúl, Jentsch, Thomas J., Pusch, Michael, Agrawal, Pankaj B.
Published in American journal of human genetics (05.08.2021)
Published in American journal of human genetics (05.08.2021)
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Journal Article
Major brain malformations: corpus callosum dysgenesis, agenesis of septum pellucidum and polymicrogyria in patients with BCORL1-related disorders
Gafner, Michal, Michelson, Marina, Argilli, Emanuela, Yosovich, Keren, Sherr, Elliott H, Parks, Kendall C, England, Eleina M, Hady-Cohen, Ronen, Leibovitz, Zvi, Lev, Dorit, Michaeli-Yosef, Yael, Lerman-Sagie, Tally, Blumkin, Lubov
Published in Journal of human genetics (01.02.2022)
Published in Journal of human genetics (01.02.2022)
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Journal Article
Induction of Long-Term Potentiation and Depression Is Reflected by Corresponding Changes in Secretion of Endogenous Brain-Derived Neurotrophic Factor
Aicardi, Giorgio, Argilli, Emanuela, Cappello, Silvia, Santi, Spartaco, Riccio, Massimo, Thoenen, Hans, Canossa, Marco
Published in Proceedings of the National Academy of Sciences - PNAS (02.11.2004)
Published in Proceedings of the National Academy of Sciences - PNAS (02.11.2004)
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Journal Article
Autism-associated biomarkers: test–retest reliability and relationship to quantitative social trait variation in rhesus monkeys
Oztan, Ozge, Talbot, Catherine F, Argilli, Emanuela, Maness, Alyssa C, Simmons, Sierra M, Mohsin, Noreen, Del Rosso, Laura A, Garner, Joseph P, Sherr, Elliott H, Capitanio, John P, Parker, Karen J
Published in Molecular autism (08.07.2021)
Published in Molecular autism (08.07.2021)
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Journal Article
Loss-of-function variants in ZEB1 cause dominant anomalies of the corpus callosum with favourable cognitive prognosis
Heide, Solveig, Argilli, Emanuela, Valence, Stéphanie, Boutaud, Lucile, Roux, Nathalie, Mignot, Cyril, Nava, Caroline, Keren, Boris, Giraudat, Kim, Faudet, Anne, Gerasimenko, Anna, Garel, Catherine, Blondiaux, Eleonore, Rastetter, Agnès, Grevent, David, Le, Carolyn, Mackenzie, Lisa, Richards, Linda, Attié-Bitach, Tania, Depienne, Christel, Sherr, Elliott, Héron, Delphine
Published in Journal of medical genetics (01.03.2024)
Published in Journal of medical genetics (01.03.2024)
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Journal Article
Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis
Qian, Xuyu, DeGennaro, Ellen M, Talukdar, Maya, Akula, Shyam K, Lai, Abbe, Shao, Diane D, Gonzalez, Dilenny, Marciano, Jack H, Smith, Richard S, Hylton, Norma K, Yang, Edward, Bazan, J Fernando, Barrett, Lee, Yeh, Rebecca C, Hill, R Sean, Beck, Samantha G, Otani, Aoi, Angad, Jolly, Mitani, Tadahiro, Posey, Jennifer E, Pehlivan, Davut, Calame, Daniel, Aydin, Hatip, Yesilbas, Osman, Parks, Kendall C, Argilli, Emanuela, England, Eleina, Im, Kiho, Taranath, Ajay, Scott, Hamish S, Barnett, Christopher P, Arts, Peer, Sherr, Elliott H, Lupski, James R, Walsh, Christopher A
Published in Developmental cell (24.10.2022)
Published in Developmental cell (24.10.2022)
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Journal Article
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease
Lemire, Gabrielle, Sanchis-Juan, Alba, Russell, Kathryn, Baxter, Samantha, Chao, Katherine R., Singer-Berk, Moriel, Groopman, Emily, Wong, Isaac, England, Eleina, Goodrich, Julia, Pais, Lynn, Austin-Tse, Christina, DiTroia, Stephanie, O’Heir, Emily, Ganesh, Vijay S., Wojcik, Monica H., Evangelista, Emily, Snow, Hana, Osei-Owusu, Ikeoluwa, Fu, Jack, Singh, Mugdha, Mostovoy, Yulia, Huang, Steve, Garimella, Kiran, Kirkham, Samantha L., Neil, Jennifer E., Shao, Diane D., Walsh, Christopher A., Argilli, Emanuela, Le, Carolyn, Sherr, Elliott H., Gleeson, Joseph G., Shril, Shirlee, Schneider, Ronen, Hildebrandt, Friedhelm, Sankaran, Vijay G., Madden, Jill A., Genetti, Casie A., Beggs, Alan H., Agrawal, Pankaj B., Bujakowska, Kinga M., Place, Emily, Pierce, Eric A., Donkervoort, Sandra, Bönnemann, Carsten G., Gallacher, Lyndon, Stark, Zornitza, Tan, Tiong Yang, White, Susan M., Töpf, Ana, Straub, Volker, Fleming, Mark D., Pollak, Martin R., Õunap, Katrin, Pajusalu, Sander, Donald, Kirsten A., Bruwer, Zandre, Ravenscroft, Gianina, Laing, Nigel G., MacArthur, Daniel G., Rehm, Heidi L., Talkowski, Michael E., Brand, Harrison, O’Donnell-Luria, Anne
Published in American journal of human genetics (02.05.2024)
Published in American journal of human genetics (02.05.2024)
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Journal Article
ARF1-related disorder: phenotypic and molecular spectrum
de Sainte Agathe, Jean-Madeleine, Pode-Shakked, Ben, Naudion, Sophie, Michaud, Vincent, Arveiler, Benoit, Fergelot, Patricia, Delmas, Jean, Keren, Boris, Poirsier, Céline, Alkuraya, Fowzan S, Tabarki, Brahim, Bend, Eric, Davis, Kellie, Bebin, Martina, Thompson, Michelle L, Bryant, Emily M, Wagner, Matias, Hannibal, Iris, Lenberg, Jerica, Krenn, Martin, Wigby, Kristen M, Friedman, Jennifer R, Iascone, Maria, Cereda, Anna, Miao, Térence, LeGuern, Eric, Argilli, Emanuela, Sherr, Elliott, Caluseriu, Oana, Tidwell, Timothy, Bayrak-Toydemir, Pinar, Hagedorn, Caroline, Brugger, Melanie, Vill, Katharina, Morneau-Jacob, Francois-Dominique, Chung, Wendy, Weaver, Kathryn N, Owens, Joshua W, Husami, Ammar, Chaudhari, Bimal P, Stone, Brandon S, Burns, Katie, Li, Rachel, de Lange, Iris M, Biehler, Margaux, Ginglinger, Emmanuelle, Gérard, Bénédicte, Stottmann, Rolf W, Trimouille, Aurélien
Published in Journal of medical genetics (01.10.2023)
Published in Journal of medical genetics (01.10.2023)
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Journal Article
Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities
Jeanne, Médéric, Demory, Hélène, Moutal, Aubin, Vuillaume, Marie-Laure, Blesson, Sophie, Thépault, Rose-Anne, Marouillat, Sylviane, Halewa, Judith, Maas, Saskia M., Motazacker, M. Mahdi, Mancini, Grazia M.S., van Slegtenhorst, Marjon A., Andreou, Avgi, Cox, Helene, Vogt, Julie, Laufman, Jason, Kostandyan, Natella, Babikyan, Davit, Hancarova, Miroslava, Bendova, Sarka, Sedlacek, Zdenek, Aldinger, Kimberly A., Sherr, Elliott H., Argilli, Emanuela, England, Eleina M., Audebert-Bellanger, Séverine, Bonneau, Dominique, Colin, Estelle, Denommé-Pichon, Anne-Sophie, Gilbert-Dussardier, Brigitte, Isidor, Bertrand, Küry, Sébastien, Odent, Sylvie, Redon, Richard, Khanna, Rajesh, Dobyns, William B., Bézieau, Stéphane, Honnorat, Jérôme, Lohkamp, Bernhard, Toutain, Annick, Laumonnier, Frédéric
Published in American journal of human genetics (06.05.2021)
Published in American journal of human genetics (06.05.2021)
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Journal Article
Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder
Hengel, Holger, Hannan, Shabab B., Dyack, Sarah, MacKay, Sara B., Schatz, Ulrich, Fleger, Martin, Kurringer, Andreas, Balousha, Ghassan, Ghanim, Zaid, Alkuraya, Fowzan S., Alzaidan, Hamad, Alsaif, Hessa S., Mitani, Tadahiro, Bozdogan, Sevcan, Pehlivan, Davut, Lupski, James R., Gleeson, Joseph J., Dehghani, Mohammadreza, Mehrjardi, Mohammad Y.V., Sherr, Elliott H., Parks, Kendall C., Argilli, Emanuela, Begtrup, Amber, Galehdari, Hamid, Balousha, Osama, Shariati, Gholamreza, Mazaheri, Neda, Malamiri, Reza A., Pagnamenta, Alistair T., Kingston, Helen, Banka, Siddharth, Jackson, Adam, Osmond, Mathew, Rieß, Angelika, Haack, Tobias B., Nägele, Thomas, Schuster, Stefanie, Hauser, Stefan, Admard, Jakob, Casadei, Nicolas, Velic, Ana, Macek, Boris, Ossowski, Stephan, Houlden, Henry, Maroofian, Reza, Schöls, Ludger
Published in American journal of human genetics (03.06.2021)
Published in American journal of human genetics (03.06.2021)
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Journal Article
O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum
Velmans, Clara, O'Donnell-Luria, Anne H, Argilli, Emanuela, Tran Mau-them, Frederic, Vitobello, Antonio, Chan, Marcus CY, Fung, Jasmine Lee-Fong, Rech, Megan, Abicht, Angela, Aubert Mucca, Marion, Carmichael, Jason, Chassaing, Nicolas, Clark, Robin, Coubes, Christine, Denommé-Pichon, Anne-Sophie, de Dios, John Karl, England, Eleina, Funalot, Benoit, Gerard, Marion, Joseph, Maries, Kennedy, Colleen, Kumps, Camille, Willems, Marjolaine, van de Laar, Ingrid M B.H, Aarts-Tesselaar, Coranne, van Slegtenhorst, Marjon, Lehalle, Daphné, Leppig, Kathleen, Lessmeier, Lennart, Pais, Lynn S, Paterson, Heather, Ramanathan, Subhadra, Rodan, Lance H, Superti-Furga, Andrea, Chung, Brian H.Y., Sherr, Elliott, Netzer, Christian, Schaaf, Christian P, Erger, Florian
Published in Journal of medical genetics (01.07.2022)
Published in Journal of medical genetics (01.07.2022)
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Cocaine Enhances NMDA Receptor-Mediated Currents in Ventral Tegmental Area Cells via Dopamine D 5 Receptor-Dependent Redistribution of NMDA Receptors
Schilström, Björn, Yaka, Rami, Argilli, Emanuela, Suvarna, Neesha, Schumann, Johanna, Chen, Billy T., Carman, Melissa, Singh, Vineeta, Mailliard, William S., Ron, Dorit, Bonci, Antonello
Published in The Journal of neuroscience (16.08.2006)
Published in The Journal of neuroscience (16.08.2006)
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Journal Article
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders
Langhammer, Franziska, Maroofian, Reza, Badar, Rueda, Gregor, Anne, Rochman, Michelle, Ratliff, Jeffrey B., Koopmans, Marije, Herget, Theresia, Hempel, Maja, Kortüm, Fanny, Heron, Delphine, Mignot, Cyril, Keren, Boris, Brooks, Susan, Botti, Christina, Ben-Zeev, Bruria, Argilli, Emanuela, Sherr, Elliot H., Gowda, Vykuntaraju K., Srinivasan, Varunvenkat M., Bakhtiari, Somayeh, Kruer, Michael C., Salih, Mustafa A., Kuechler, Alma, Muller, Eric A., Blocker, Karli, Kuismin, Outi, Park, Kristen L., Kochhar, Aaina, Brown, Kathleen, Ramanathan, Subhadra, Clark, Robin D., Elgizouli, Magdeldin, Melikishvili, Gia, Tabatadze, Nazhi, Stark, Zornitza, Mirzaa, Ghayda M., Ong, Jinfon, Grasshoff, Ute, Bevot, Andrea, von Wintzingerode, Lydia, Jamra, Rami A., Hennig, Yvonne, Goldenberg, Paula, Al Alam, Chadi, Charif, Majida, Boulouiz, Redouane, Bellaoui, Mohammed, Amrani, Rim, Al Mutairi, Fuad, Tamim, Abdullah M., Abdulwahab, Firdous, Alkuraya, Fowzan S., Khouj, Ebtissal M., Alvi, Javeria R., Sultan, Tipu, Hashemi, Narges, Karimiani, Ehsan G., Ashrafzadeh, Farah, Imannezhad, Shima, Efthymiou, Stephanie, Houlden, Henry, Sticht, Heinrich, Zweier, Christiane
Published in Genetics in medicine (01.08.2023)
Published in Genetics in medicine (01.08.2023)
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