Unaltered Striatal Dopamine Release Levels in Young Parkin Knockout, Pink1 Knockout, DJ-1 Knockout and LRRK2 R1441G Transgenic Mice

por Sanchez, Gonzalo, Varaschin, Rafael K., Büeler, Hansruedi, Marcogliese, Paul C., Park, David S., Trudeau, Louis-Eric
Publicado 2014

TM2D genes regulate Notch signaling and neuronal function in Drosophila

por Salazar, Jose L., Yang, Sheng-An, Lin, Yong Qi, Li-Kroeger, David, Marcogliese, Paul C., Deal, Samantha L., Neely, G. Gregory, Yamamoto, Shinya
Publicado 2021

DJ-1 modulates the unfolded protein response and cell death via upregulation of ATF4 following ER stress

por Yang, Jungwoo, Kim, Kwang Soo, Iyirhiaro, Grace O., Marcogliese, Paul C., Callaghan, Steve M., Qu, Dianbo, Kim, Woo Jae, Slack, Ruth S., Park, David S.
Publicado 2019

Missense variants in CTNNB1 can be associated with vitreoretinopathy—Seven new cases of CTNNB1‐associated neurodevelopmental disorder including a previously unreported retinal phen...

por Rossetti, Linda Z., Bekheirnia, Mir Reza, Lewis, Andrea M., Mefford, Heather C., Golden‐Grant, Katie, Tarczy‐Hornoch, Kristina, Briere, Lauren C., Sweetser, David A., Walker, Melissa A., Kravets, Elijah, Stevenson, David A., Bruenner, Georgette, Sebastian, Jessica, Knapo, Julia, Rosenfeld, Jill A., Marcogliese, Paul C., Wangler, Michael F.
Publicado 2020

Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling

por Marcogliese, Paul C., Dutta, Debdeep, Ray, Shrestha Sinha, Dang, Nghi D. P., Zuo, Zhongyuan, Wang, Yuchun, Lu, Di, Fazal, Fatima, Ravenscroft, Thomas A., Chung, Hyunglok, Kanca, Oguz, Wan, JiJun, Douine, Emilie D., Network, Undiagnosed Diseases, Pena, Loren D. M., Yamamoto, Shinya, Nelson, Stanley F., Might, Matthew, Meyer, Kathrin C., Yeo, Nan Cher, Bellen, Hugo J.
Publicado 2022

Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development

por Accogli, Andrea, Lu, Shenzhao, Musante, Ilaria, Scudieri, Paolo, Rosenfeld, Jill A., Severino, Mariasavina, Baldassari, Simona, Iacomino, Michele, Riva, Antonella, Balagura, Ganna, Piccolo, Gianluca, Minetti, Carlo, Roberto, Denis, Xia, Fan, Razak, Razaali, Lawrence, Emily, Hussein, Mohamed, Chang, Emmanuel Yih-Herng, Holick, Michelle, Calì, Elisa, Aliberto, Emanuela, De-Sarro, Rosalba, Gambardella, Antonio, Network, Undiagnosed Diseases, Group, SYNaPS Study, Emrick, Lisa, McCaffery, Peter J. A., Clagett-Dame, Margaret, Marcogliese, Paul C., Bellen, Hugo J., Lalani, Seema R., Zara, Federico, Striano, Pasquale, Salpietro, Vincenzo
Publicado 2022

A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder

por Snijders Blok, Lot, Verseput, Jolijn, Rots, Dmitrijs, Venselaar, Hanka, Innes, A. Micheil, Stumpel, Connie, Õunap, Katrin, Reinson, Karit, Seaby, Eleanor G., McKee, Shane, Burton, Barbara, Kim, Katherine, van Hagen, Johanna M., Waisfisz, Quinten, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Li, Dong, Zackai, Elaine H., Sheppard, Sarah E., Keena, Beth, Hakonarson, Hakon, Roos, Andreas, Kohlschmidt, Nicolai, Cereda, Anna, Iascone, Maria, Rebessi, Erika, Kernohan, Kristin D., Campeau, Philippe M., Millan, Francisca, Taylor, Jesse A., Lochmüller, Hanns, Higgs, Martin R., Goula, Amalia, Bernhard, Birgitta, Velasco, Danita J., Schmanski, Andrew A., Stark, Zornitza, Gallacher, Lyndon, Pais, Lynn, Marcogliese, Paul C., Yamamoto, Shinya, Raun, Nicholas, Jakub, Taryn E., Kramer, Jamie M., den Hoed, Joery, Fisher, Simon E., Brunner, Han G., Kleefstra, Tjitske
Publicado 2022

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

por Guo, Hui, Bettella, Elisa, Marcogliese, Paul C., Zhao, Rongjuan, Andrews, Jonathan C., Nowakowski, Tomasz J., Gillentine, Madelyn A., Hoekzema, Kendra, Wang, Tianyun, Wu, Huidan, Jangam, Sharayu, Liu, Cenying, Ni, Hailun, Willemsen, Marjolein H., van Bon, Bregje W., Rinne, Tuula, Stevens, Servi J. C., Kleefstra, Tjitske, Brunner, Han G., Yntema, Helger G., Long, Min, Zhao, Wenjing, Hu, Zhengmao, Colson, Cindy, Richard, Nicolas, Schwartz, Charles E., Romano, Corrado, Castiglia, Lucia, Bottitta, Maria, Dhar, Shweta U., Erwin, Deanna J., Emrick, Lisa, Keren, Boris, Afenjar, Alexandra, Zhu, Baosheng, Bai, Bing, Stankiewicz, Pawel, Herman, Kristin, Mercimek-Andrews, Saadet, Juusola, Jane, Wilfert, Amy B., Abou Jamra, Rami, Büttner, Benjamin, Mefford, Heather C., Muir, Alison M., Scheffer, Ingrid E., Regan, Brigid M., Malone, Stephen, Gecz, Jozef, Cobben, Jan, Weiss, Marjan M., Waisfisz, Quinten, Bijlsma, Emilia K., Hoffer, Mariëtte J. V., Ruivenkamp, Claudia A. L., Sartori, Stefano, Xia, Fan, Rosenfeld, Jill A., Bernier, Raphael A., Wangler, Michael F., Yamamoto, Shinya, Xia, Kun, Stegmann, Alexander P. A., Bellen, Hugo J., Murgia, Alessandra, Eichler, Evan E.
Publicado 2019

Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases

por Marcogliese, Paul C., Deal, Samantha L., Andrews, Jonathan, Harnish, J. Michael, Bhavana, V. Hemanjani, Graves, Hillary K., Jangam, Sharayu, Luo, Xi, Liu, Ning, Bei, Danqing, Chao, Yu-Hsin, Hull, Brooke, Lee, Pei-Tseng, Pan, Hongling, Bhadane, Pradnya, Huang, Mei-Chu, Longley, Colleen M., Chao, Hsiao-Tuan, Chung, Hyung-lok, Haelterman, Nele A., Kanca, Oguz, Manivannan, Sathiya N., Rossetti, Linda Z., German, Ryan J., Gerard, Amanda, Schwaibold, Eva Maria Christina, Fehr, Sarah, Guerrini, Renzo, Vetro, Annalisa, England, Eleina, Murali, Chaya N., Barakat, Tahsin Stefan, van Dooren, Marieke F., Wilke, Martina, van Slegtenhorst, Marjon, Lesca, Gaetan, Sabatier, Isabelle, Chatron, Nicolas, Brownstein, Catherine A., Madden, Jill A., Agrawal, Pankaj B., Keren, Boris, Courtin, Thomas, Perrin, Laurence, Brugger, Melanie, Roser, Timo, Leiz, Steffen, Mau-Them, Frederic Tran, Delanne, Julian, Sukarova-Angelovska, Elena, Trajkova, Slavica, Rosenhahn, Erik, Strehlow, Vincent, Platzer, Konrad, Keller, Roberto, Pavinato, Lisa, Brusco, Alfredo, Rosenfeld, Jill A., Marom, Ronit, Wangler, Michael F., Yamamoto, Shinya
Publicado 2022