606 results on '"A. Salpietro"'
Search Results
2. Endocrine features of Prader-Willi syndrome: a narrative review focusing on genotype-phenotype correlation
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Madeo, Simona F., primary, Zagaroli, Luca, additional, Vandelli, Sara, additional, Calcaterra, Valeria, additional, Crinò, Antonino, additional, De Sanctis, Luisa, additional, Faienza, Maria Felicia, additional, Fintini, Danilo, additional, Guazzarotti, Laura, additional, Licenziati, Maria Rosaria, additional, Mozzillo, Enza, additional, Pajno, Roberta, additional, Scarano, Emanuela, additional, Street, Maria E., additional, Wasniewska, Malgorzata, additional, Bocchini, Sarah, additional, Bucolo, Carmen, additional, Buganza, Raffaele, additional, Chiarito, Mariangela, additional, Corica, Domenico, additional, Di Candia, Francesca, additional, Francavilla, Roberta, additional, Fratangeli, Nadia, additional, Improda, Nicola, additional, Morabito, Letteria A., additional, Mozzato, Chiara, additional, Rossi, Virginia, additional, Schiavariello, Concetta, additional, Farello, Giovanni, additional, Iughetti, Lorenzo, additional, Salpietro, Vincenzo, additional, Salvatoni, Alessandro, additional, Giordano, Mara, additional, Grugni, Graziano, additional, and Delvecchio, Maurizio, additional
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- 2024
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3. De novo variants in DENND5B cause a neurodevelopmental disorder
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Scala, Marcello, primary, Tomati, Valeria, additional, Ferla, Matteo, additional, Lena, Mariateresa, additional, Cohen, Julie S., additional, Fatemi, Ali, additional, Brokamp, Elly, additional, Bican, Anna, additional, Phillips, John A., additional, Koziura, Mary E., additional, Nicouleau, Michael, additional, Rio, Marlene, additional, Siquier, Karine, additional, Boddaert, Nathalie, additional, Musante, Ilaria, additional, Tamburro, Serena, additional, Baldassari, Simona, additional, Iacomino, Michele, additional, Scudieri, Paolo, additional, Rosenfeld, Jill A., additional, Bellus, Gary, additional, Reed, Sara, additional, Al Saif, Hind, additional, Russo, Rossana Sanchez, additional, Walsh, Matthew B., additional, Cantagrel, Vincent, additional, Crunk, Amy, additional, Gustincich, Stefano, additional, Ruggiero, Sarah M., additional, Fitzgerald, Mark P., additional, Helbig, Ingo, additional, Striano, Pasquale, additional, Severino, Mariasavina, additional, Salpietro, Vincenzo, additional, Pedemonte, Nicoletta, additional, Zara, Federico, additional, Acosta, Maria T., additional, Adams, David R., additional, Alvarez, Raquel L., additional, Alvey, Justin, additional, Allworth, Aimee, additional, Andrews, Ashley, additional, Ashley, Euan A., additional, Afzali, Ben, additional, Bacino, Carlos A., additional, Bademci, Guney, additional, Balasubramanyam, Ashok, additional, Baldridge, Dustin, additional, Bale, Jim, additional, Bamshad, Michael, additional, Barbouth, Deborah, additional, Bayrak-Toydemir, Pinar, additional, Beck, Anita, additional, Beggs, Alan H., additional, Behrens, Edward, additional, Bejerano, Gill, additional, Bellen, Hugo J., additional, Bennett, Jimmy, additional, Bernstein, Jonathan A., additional, Berry, Gerard T., additional, Bivona, Stephanie, additional, Blue, Elizabeth, additional, Bohnsack, John, additional, Bonner, Devon, additional, Botto, Lorenzo, additional, Briere, Lauren C., additional, Brown, Gabrielle, additional, Burke, Elizabeth A., additional, Burrage, Lindsay C., additional, Butte, Manish J., additional, Byers, Peter, additional, Byrd, William E., additional, Carey, John, additional, Carrasquillo, Olveen, additional, Cassini, Thomas, additional, Chang, Ta Chen Peter, additional, Chanprasert, Sirisak, additional, Chao, HsiaoTuan, additional, Chinn, Ivan, additional, Clark, Gary D., additional, Coakley, Terra R., additional, Cobban, Laurel A., additional, Cogan, Joy D., additional, Coggins, Matthew, additional, Cole, F. Sessions, additional, Colley, Heather A., additional, Cope, Heidi, additional, Corona, Rosario, additional, Craigen, William J., additional, Crouse, Andrew B., additional, Cunningham, Michael, additional, D’Souza, Precilla, additional, Dai, Hongzheng, additional, Dasari, Surendra, additional, Davis, Joie, additional, Dayal, Jyoti G., additional, Delgado, Margaret, additional, Dell'Angelica, Esteban C., additional, Dipple, Katrina, additional, Doherty, Daniel, additional, Dorrani, Naghmeh, additional, Doss, Argenia L., additional, Douine, Emilie D., additional, Earl, Dawn, additional, Eckstein, David J., additional, Emrick, Lisa T., additional, Eng, Christine M., additional, Falk, Marni, additional, Fieg, Elizabeth L., additional, Fisher, Paul G., additional, Fogel, Brent L., additional, Forghani, Irman, additional, Fu, Jiayu, additional, Gahl, William A., additional, Glass, Ian, additional, Goddard, Page C., additional, Godfrey, Rena A., additional, Grajewski, Alana, additional, Gropman, Andrea, additional, Halley, Meghan C., additional, Hamid, Rizwan, additional, Hanchard, Neal, additional, Hassey, Kelly, additional, Hayes, Nichole, additional, High, Frances, additional, Hing, Anne, additional, Hisama, Fuki M., additional, Holm, Ingrid A., additional, Hom, Jason, additional, Horike-Pyne, Martha, additional, Huang, Alden, additional, Huang, Yan, additional, Hutchison, Sarah, additional, Introne, Wendy, additional, Isasi, Rosario, additional, Izumi, Kosuke, additional, Jarvik, Gail P., additional, Jarvik, Jeffrey, additional, Jayadev, Suman, additional, Jean-Marie, Orpa, additional, Jobanputra, Vaidehi, additional, Kaitryn, Emerald, additional, Ketkar, Shamika, additional, Kiley, Dana, additional, Kilich, Gonench, additional, Kobren, Shilpa N., additional, Kohane, Isaac S., additional, Kohler, Jennefer N., additional, Korrick, Susan, additional, Krakow, Deborah, additional, Krasnewich, Donna M., additional, Kravets, Elijah, additional, Lalani, Seema R., additional, Lam, Byron, additional, Lam, Christina, additional, Lanpher, Brendan C., additional, Lanza, Ian R., additional, LeBlanc, Kimberly, additional, Lee, Brendan H., additional, Levitt, Roy, additional, Lewis, Richard A., additional, Liu, Pengfei, additional, Liu, Xue Zhong, additional, Longo, Nicola, additional, Loo, Sandra K., additional, Loscalzo, Joseph, additional, Maas, Richard L., additional, Macnamara, Ellen F., additional, MacRae, Calum A., additional, Maduro, Valerie V., additional, Maghiro, AudreyStephannie, additional, Mahoney, Rachel, additional, Malicdan, May Christine V., additional, Mamounas, Laura A., additional, Manolio, Teri A., additional, Mao, Rong, additional, Marom, Ronit, additional, Marth, Gabor, additional, Martin, Beth A., additional, Martin, Martin G., additional, Martínez-Agosto, Julian A., additional, Marwaha, Shruti, additional, McCauley, Jacob, additional, McConkie-Rosell, Allyn, additional, McCray, Alexa T., additional, McGee, Elisabeth, additional, Might, Matthew, additional, Miller, Danny, additional, Mirzaa, Ghayda, additional, Morava, Eva, additional, Moretti, Paolo, additional, Morimoto, Marie, additional, Mulvihill, John J., additional, Nakano-Okuno, Mariko, additional, Nelson, Stanley F., additional, Nieves-Rodriguez, Shirley, additional, Novacic, Donna, additional, Oglesbee, Devin, additional, Orengo, James P., additional, Pace, Laura, additional, Pak, Stephen, additional, Pallais, J. Carl, additional, Papp, Jeanette C., additional, Parker, Neil H., additional, Petcharet, Leoyklang, additional, Posey, Jennifer E., additional, Potocki, Lorraine, additional, Swerdzewski, Barbara N. Pusey, additional, Quinlan, Aaron, additional, Rao, Deepak A., additional, Raper, Anna, additional, Raskind, Wendy, additional, Renteria, Genecee, additional, Reuter, Chloe M., additional, Rives, Lynette, additional, Robertson, Amy K., additional, Rodan, Lance H., additional, Rosenthal, Elizabeth, additional, Rossignol, Francis, additional, Ruzhnikov, Maura, additional, Sabaii, Marla, additional, Sacco, Ralph, additional, Sampson, Jacinda B., additional, Saporta, Mario, additional, Schaechter, Judy, additional, Schedl, Timothy, additional, Schoch, Kelly, additional, Scott, Daryl A., additional, Seto, Elaine, additional, Sharma, Prashant, additional, Shashi, Vandana, additional, Shelkowitz, Emily, additional, Sheppeard, Sam, additional, Shin, Jimann, additional, Silverman, Edwin K., additional, Sinsheimer, Janet S., additional, Sisco, Kathy, additional, Smith, Edward C., additional, Smith, Kevin S., additional, Solnica-Krezel, Lilianna, additional, Solomon, Ben, additional, Spillmann, Rebecca C., additional, Stergachis, Andrew, additional, Stoler, Joan M., additional, Sullivan, Kathleen, additional, Sullivan, Jennifer A., additional, Sutton, Shirley, additional, Sweetser, David A., additional, Sybert, Virginia, additional, Tabor, Holly K., additional, Tan, Queenie K.-G., additional, Tan, Amelia L.M., additional, Tarakad, Arjun, additional, Taylor, Herman, additional, Tekin, Mustafa, additional, Telischi, Fred, additional, Thorson, Willa, additional, Tifft, Cynthia J., additional, Toro, Camilo, additional, Tran, Alyssa A., additional, Ungar, Rachel A., additional, Urv, Tiina K., additional, Vanderver, Adeline, additional, Velinder, Matt, additional, Viskochil, Dave, additional, Vogel, Tiphanie P., additional, Wahl, Colleen E., additional, Walker, Melissa, additional, Walley, Nicole M., additional, Wambach, Jennifer, additional, Wan, Jijun, additional, Wang, Lee-kai, additional, Wangler, Michael F., additional, Ward, Patricia A., additional, Wegner, Daniel, additional, Weisz Hubshman, Monika, additional, Wener, Mark, additional, Wenger, Tara, additional, Westerfield, Monte, additional, Wheeler, Matthew T., additional, Whitlock, Jordan, additional, Wolfe, Lynne A., additional, Worley, Kim, additional, Yamamoto, Shinya, additional, Zhang, Zhe, additional, and Zuchner, Stephan, additional
- Published
- 2024
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4. Human mutations in SLITRK3 implicated in GABAergic synapse development in mice
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Efthymiou, Stephanie, primary, Han, Wenyan, additional, Ilyas, Muhammad, additional, Li, Jun, additional, Yu, Yichao, additional, Scala, Marcello, additional, Malintan, Nancy T., additional, Vavouraki, Nikoleta, additional, Mankad, Kshitij, additional, Maroofian, Reza, additional, Rocca, Clarissa, additional, Salpietro, Vincenzo, additional, Lakhani, Shenela, additional, Mallack, Eric J., additional, Palculict, Timothy Blake, additional, Li, Hong, additional, Zhang, Guojun, additional, Zafar, Faisal, additional, Rana, Nuzhat, additional, Takashima, Noriko, additional, Matsunaga, Hayato, additional, Manzoni, Claudia, additional, Striano, Pasquale, additional, Lythgoe, Mark F., additional, Aruga, Jun, additional, Lu, Wei, additional, and Houlden, Henry, additional
- Published
- 2024
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5. De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features
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Pan, Xueyang, primary, Tao, Alice M., additional, Lu, Shenzhao, additional, Ma, Mengqi, additional, Hannan, Shabab B., additional, Slaugh, Rachel, additional, Drewes Williams, Sarah, additional, O'Grady, Lauren, additional, Kanca, Oguz, additional, Person, Richard, additional, Carter, Melissa T., additional, Platzer, Konrad, additional, Schnabel, Franziska, additional, Abou Jamra, Rami, additional, Roberts, Amy E., additional, Newburger, Jane W., additional, Revah-Politi, Anya, additional, Granadillo, Jorge L., additional, Stegmann, Alexander P.A., additional, Sinnema, Margje, additional, Accogli, Andrea, additional, Salpietro, Vincenzo, additional, Capra, Valeria, additional, Ghaloul-Gonzalez, Lina, additional, Brueckner, Martina, additional, Simon, Marleen E.H., additional, Sweetser, David A., additional, Glinton, Kevin E., additional, Kirk, Susan E., additional, Wangler, Michael F., additional, Yamamoto, Shinya, additional, Chung, Wendy K., additional, Bellen, Hugo J., additional, Burrage, Lindsay C., additional, Heaney, Jason D., additional, Kim, Seon-Young, additional, Lanza, Denise G., additional, Liu, Zhandong, additional, Mao, Dongxue, additional, Milosavljevic, Aleksander, additional, Nagamani, Sandesh C.S., additional, Posey, Jennifer E., additional, Ramamurthy, Uma, additional, Ramanathan, Vivek, additional, Rogers, Jeffrey, additional, Rosenfeld, Jill A., additional, Roth, Matthew, additional, and Zahedi Darshoori, Ramin, additional
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- 2024
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6. Corrigendum: Neuroimaging in PRUNE1 syndrome: a mini-review of the literature
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Scorrano, Giovanna, primary, Battaglia, Laura, additional, Spiaggia, Rossana, additional, Basile, Antonio, additional, Palmucci, Stefano, additional, Foti, Pietro Valerio, additional, David, Emanuele, additional, Marinangeli, Franco, additional, Mascilini, Ilaria, additional, Corsello, Antonio, additional, Comisi, Francesco, additional, Vittori, Alessandro, additional, and Salpietro, Vincenzo, additional
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- 2024
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7. Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation
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Accogli, Andrea, primary, Shakya, Saurabh, additional, Yang, Taewoo, additional, Insinna, Christine, additional, Kim, Soo Yeon, additional, Bell, David, additional, Butov, Kirill R., additional, Severino, Mariasavina, additional, Niceta, Marcello, additional, Scala, Marcello, additional, Lee, Hyun Sik, additional, Yoo, Taekyeong, additional, Stauffer, Jimmy, additional, Zhao, Huijie, additional, Fiorillo, Chiara, additional, Pedemonte, Marina, additional, Diana, Maria C., additional, Baldassari, Simona, additional, Zakharova, Viktoria, additional, Shcherbina, Anna, additional, Rodina, Yulia, additional, Fagerberg, Christina, additional, Roos, Laura Sønderberg, additional, Wierzba, Jolanta, additional, Dobosz, Artur, additional, Gerard, Amanda, additional, Potocki, Lorraine, additional, Rosenfeld, Jill A., additional, Lalani, Seema R., additional, Scott, Tiana M., additional, Scott, Daryl, additional, Azamian, Mahshid S., additional, Louie, Raymond, additional, Moore, Hannah W., additional, Champaigne, Neena L., additional, Hollingsworth, Grace, additional, Torella, Annalaura, additional, Nigro, Vincenzo, additional, Ploski, Rafal, additional, Salpietro, Vincenzo, additional, Zara, Federico, additional, Pizzi, Simone, additional, Chillemi, Giovanni, additional, Ognibene, Marzia, additional, Cooney, Erin, additional, Do, Jenny, additional, Linnemann, Anders, additional, Larsen, Martin J., additional, Specht, Suzanne, additional, Walters, Kylie J., additional, Choi, Hee-Jung, additional, Choi, Murim, additional, Tartaglia, Marco, additional, Youkharibache, Phillippe, additional, Chae, Jong-Hee, additional, Capra, Valeria, additional, Park, Sung-Gyoo, additional, and Westlake, Christopher J., additional
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- 2024
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8. Neuroimaging in PRUNE1 syndrome: a mini-review of the literature
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Scorrano, Giovanna, primary, Laura, Battaglia, additional, Spiaggia, Rossana, additional, Basile, Antonio, additional, Palmucci, Stefano, additional, Foti, Pietro Valerio, additional, David, Emanuele, additional, Marinangeli, Franco, additional, Mascilini, Ilaria, additional, Comisi, Francesco, additional, Vittori, Alessandro, additional, and Salpietro, Vincenzo, additional
- Published
- 2023
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9. Neuroimaging features of WOREE syndrome: a mini-review of the literature
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Battaglia, Laura, primary, Scorrano, Giovanna, additional, Spiaggia, Rossana, additional, Basile, Antonio, additional, Palmucci, Stefano, additional, Foti, Pietro Valerio, additional, Spatola, Corrado, additional, Iacomino, Michele, additional, Marinangeli, Franco, additional, Francia, Elisa, additional, Comisi, Francesco, additional, Corsello, Antonio, additional, Salpietro, Vincenzo, additional, Vittori, Alessandro, additional, and David, Emanuele, additional
- Published
- 2023
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10. 495. De novo emergence of resistance mutations during treatment of SARSCoV-2 infection in immunocompromised patients
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Johnson, Katherine, primary, Soave, Rosemary, additional, Wang, Wei, additional, Albert, Joshua, additional, Kodiyanplakkal, Rosy Priya, additional, Salpietro, Maria, additional, Jing-Mei, Hsu, additional, Diel, Diego G, additional, Ghedin, Elodie, additional, and Salvatore, Mirella, additional
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- 2023
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11. Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders
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Kaiyrzhanov, Rauan, primary, Rad, Aboulfazl, additional, Lin, Sheng-Jia, additional, Bertoli-Avella, Aida, additional, Kallemeijn, Wouter W, additional, Godwin, Annie, additional, Zaki, Maha S, additional, Huang, Kevin, additional, Lau, Tracy, additional, Petree, Cassidy, additional, Efthymiou, Stephanie, additional, Ghayoor Karimiani, Ehsan, additional, Hempel, Maja, additional, Normand, Elizabeth A, additional, Rudnik-Schöneborn, Sabine, additional, Schatz, Ulrich A, additional, Baggelaar, Marc P, additional, Ilyas, Muhammad, additional, Sultan, Tipu, additional, Alvi, Javeria Raza, additional, Ganieva, Manizha, additional, Fowler, Ben, additional, Aanicai, Ruxandra, additional, Akay Tayfun, Gulsen, additional, Al Saman, Abdulaziz, additional, Alswaid, Abdulrahman, additional, Amiri, Nafise, additional, Asilova, Nilufar, additional, Shotelersuk, Vorasuk, additional, Yeetong, Patra, additional, Azam, Matloob, additional, Babaei, Meisam, additional, Bahrami Monajemi, Gholamreza, additional, Mohammadi, Pouria, additional, Samie, Saeed, additional, Banu, Selina Husna, additional, Basto, Jorge Pinto, additional, Kortüm, Fanny, additional, Bauer, Mislen, additional, Bauer, Peter, additional, Beetz, Christian, additional, Garshasbi, Masoud, additional, Hameed Issa, Awatif, additional, Eyaid, Wafaa, additional, Ahmed, Hind, additional, Hashemi, Narges, additional, Hassanpour, Kazem, additional, Herman, Isabella, additional, Ibrohimov, Sherozjon, additional, Abdul-Majeed, Ban A, additional, Imdad, Maria, additional, Isrofilov, Maksudjon, additional, Kaiyal, Qassem, additional, Khan, Suliman, additional, Kirmse, Brian, additional, Koster, Janet, additional, Lourenço, Charles Marques, additional, Mitani, Tadahiro, additional, Moldovan, Oana, additional, Murphy, David, additional, Najafi, Maryam, additional, Pehlivan, Davut, additional, Rocha, Maria Eugenia, additional, Salpietro, Vincenzo, additional, Schmidts, Miriam, additional, Shalata, Adel, additional, Mahroum, Mohammad, additional, Talbeya, Jawabreh Kassem, additional, Taylor, Robert W, additional, Vazquez, Dayana, additional, Vetro, Annalisa, additional, Waterham, Hans R, additional, Zaman, Mashaya, additional, Schrader, Tina A, additional, Chung, Wendy K, additional, Guerrini, Renzo, additional, Lupski, James R, additional, Gleeson, Joseph, additional, Suri, Mohnish, additional, Jamshidi, Yalda, additional, Bhatia, Kailash P, additional, Vona, Barbara, additional, Schrader, Michael, additional, Severino, Mariasavina, additional, Guille, Matthew, additional, Tate, Edward W, additional, Varshney, Gaurav K, additional, Houlden, Henry, additional, and Maroofian, Reza, additional
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- 2023
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12. Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder
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Accogli, Andrea, primary, Lin, Sheng-Jia, additional, Severino, Mariasavina, additional, Kim, Sung-Hoon, additional, Huang, Kevin, additional, Rocca, Clarissa, additional, Landsverk, Megan, additional, Zaki, Maha S., additional, Al-Maawali, Almundher, additional, Srinivasan, Varunvenkat M., additional, Al-Thihli, Khalid, additional, Schaefer, G. Bradly, additional, Davis, Monica, additional, Tonduti, Davide, additional, Doneda, Chiara, additional, Marten, Lara M., additional, Mühlhausen, Chris, additional, Gomez, Maria, additional, Lamantea, Eleonora, additional, Mena, Rafael, additional, Nizon, Mathilde, additional, Procaccio, Vincent, additional, Begtrup, Amber, additional, Telegrafi, Aida, additional, Cui, Hong, additional, Schulz, Heidi L., additional, Mohr, Julia, additional, Biskup, Saskia, additional, Loos, Mariana Amina, additional, Aráoz, Hilda Verónica, additional, Salpietro, Vincenzo, additional, Keppen, Laura Davis, additional, Chitre, Manali, additional, Petree, Cassidy, additional, Raymond, Lucy, additional, Vogt, Julie, additional, Sawyer, Lindsey B., additional, Basinger, Alice A., additional, Pedersen, Signe Vandal, additional, Pearson, Toni S., additional, Grange, Dorothy K., additional, Lingappa, Lokesh, additional, McDunnah, Paige, additional, Horvath, Rita, additional, Cognè, Benjamin, additional, Isidor, Bertrand, additional, Hahn, Andreas, additional, Gripp, Karen W., additional, Jafarnejad, Seyed Mehdi, additional, Østergaard, Elsebet, additional, Prada, Carlos E., additional, Ghezzi, Daniele, additional, Gowda, Vykuntaraju K., additional, Taylor, Robert W., additional, Sonenberg, Nahum, additional, Houlden, Henry, additional, Sissler, Marie, additional, Varshney, Gaurav K., additional, and Maroofian, Reza, additional
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- 2023
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13. Investigating Slut Shaming of Men in LGBTQIA + Communities: A Qualitative Exploratory Study
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Terrell, Kassie R., primary, Quinn, Nathan, additional, Velasquez Nash, Brandi, additional, and Salpietro, Lena, additional
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- 2023
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14. A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers
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Geroldi, Alessandro, primary, Tozza, Stefano, additional, Fiorillo, Chiara, additional, Nolano, Maria, additional, Fossa, Paola, additional, Vitale, Floriana, additional, Domi, Regi, additional, Gaudio, Andrea, additional, Mammi, Alessia, additional, Patrone, Serena, additional, Barbera, Andrea La, additional, Origone, Paola, additional, Ponti, Clarissa, additional, Sanguineri, Francesca, additional, Zara, Federico, additional, Cataldi, Matteo, additional, Salpietro, Vincenzo, additional, Venturi, Consuelo Barbara, additional, Massucco, Sara, additional, Schenone, Angelo, additional, Manganelli, Fiore, additional, Mandich, Paola, additional, Bellone, Emilia, additional, and Gotta, Fabio, additional
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- 2023
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15. A PAK1 mutational hotspot within the regulatory CRIPaK domain is associated with severe neurodevelopmental disorders in children
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Scorrano, Giovanna, primary, D’Onofrio, Gianluca, additional, Accogli, Andrea, additional, Severino, Mariasavina, additional, Buchert, Rebecca, additional, Kotzaeridou, Urania, additional, Iapadre, Giulia, additional, Farello, Giovanni, additional, Iacomino, Michele, additional, Dono, Fedele, additional, Di Francesco, Ludovica, additional, Fiorile, Maria Francesca, additional, La Bella, Saverio, additional, Corsello, Antonio, additional, Calì, Elisa, additional, Di Rosa, Gabriella, additional, Gitto, Eloisa, additional, Verrotti, Alberto, additional, Fortuna, Sara, additional, Soler, Miguel A., additional, Chiarelli, Francesco, additional, Oehl-Jaschkowitz, Barbara, additional, Haack, Tobias B., additional, Zara, Federico, additional, Striano, Pasquale, additional, and Salpietro, Vincenzo, additional
- Published
- 2023
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16. Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals
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Bosch, Elisabeth, primary, Popp, Bernt, additional, Güse, Esther, additional, Skinner, Cindy, additional, van der Sluijs, Pleuntje J., additional, Maystadt, Isabelle, additional, Pinto, Anna Maria, additional, Renieri, Alessandra, additional, Bruno, Lucia Pia, additional, Granata, Stefania, additional, Marcelis, Carlo, additional, Baysal, Özlem, additional, Hartwich, Dewi, additional, Holthöfer, Laura, additional, Isidor, Bertrand, additional, Cogne, Benjamin, additional, Wieczorek, Dagmar, additional, Capra, Valeria, additional, Scala, Marcello, additional, De Marco, Patrizia, additional, Ognibene, Marzia, additional, Abou Jamra, Rami, additional, Platzer, Konrad, additional, Carter, Lauren B., additional, Kuismin, Outi, additional, van Haeringen, Arie, additional, Maroofian, Reza, additional, Valenzuela, Irene, additional, Cuscó, Ivon, additional, Martinez-Agosto, Julian A., additional, Rabani, Ahna M., additional, Mefford, Heather C., additional, Pereira, Elaine M., additional, Close, Charlotte, additional, Anyane-Yeboa, Kwame, additional, Wagner, Mallory, additional, Hannibal, Mark C., additional, Zacher, Pia, additional, Thiffault, Isabelle, additional, Beunders, Gea, additional, Umair, Muhammad, additional, Bhola, Priya T., additional, McGinnis, Erin, additional, Millichap, John, additional, van de Kamp, Jiddeke M., additional, Prijoles, Eloise J., additional, Dobson, Amy, additional, Shillington, Amelle, additional, Graham, Brett H., additional, Garcia, Evan-Jacob, additional, Kelly Galindo, Maureen, additional, Ropers, Fabienne G., additional, Nibbeling, Esther AR., additional, Hubbard, Gail, additional, Karimov, Catherine, additional, Goj, Guido, additional, Bend, Renee, additional, Rath, Julie, additional, Morrow, Michelle M., additional, Millan, Francisca, additional, Salpietro, Vincenzo, additional, Torella, Annalaura, additional, Nigro, Vincenzo, additional, Kurki, Mitja, additional, Stevenson, Roger E., additional, Santen, Gijs W.E., additional, Zweier, Markus, additional, Campeau, Philippe M., additional, Severino, Mariasavina, additional, Reis, André, additional, Accogli, Andrea, additional, and Vasileiou, Georgia, additional
- Published
- 2023
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17. Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders
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Maroofian, Reza, primary, Kaiyrzhanov, Rauan, additional, Cali, Elisa, additional, Zamani, Mina, additional, Zaki, Maha S, additional, Ferla, Matteo, additional, Tortora, Domenico, additional, Sadeghian, Saeid, additional, Saadi, Saadia Maryam, additional, Abdullah, Uzma, additional, Karimiani, Ehsan Ghayoor, additional, Efthymiou, Stephanie, additional, Yeşil, Gözde, additional, Alavi, Shahryar, additional, Al Shamsi, Aisha M, additional, Tajsharghi, Homa, additional, Abdel-Hamid, Mohamed S, additional, Saadi, Nebal Waill, additional, Al Mutairi, Fuad, additional, Alabdi, Lama, additional, Beetz, Christian, additional, Ali, Zafar, additional, Toosi, Mehran Beiraghi, additional, Rudnik-Schöneborn, Sabine, additional, Babaei, Meisam, additional, Isohanni, Pirjo, additional, Muhammad, Jameel, additional, Khan, Sheraz, additional, Al Shalan, Maha, additional, Hickey, Scott E, additional, Marom, Daphna, additional, Elhanan, Emil, additional, Kurian, Manju A, additional, Marafi, Dana, additional, Saberi, Alihossein, additional, Hamid, Mohammad, additional, Spaull, Robert, additional, Meng, Linyan, additional, Lalani, Seema, additional, Maqbool, Shazia, additional, Rahman, Fatima, additional, Seeger, Jürgen, additional, Palculict, Timothy Blake, additional, Lau, Tracy, additional, Murphy, David, additional, Mencacci, Niccolo Emanuele, additional, Steindl, Katharina, additional, Begemann, Anais, additional, Rauch, Anita, additional, Akbas, Sinan, additional, Aslanger, Ayça Dilruba, additional, Salpietro, Vincenzo, additional, Yousaf, Hammad, additional, Ben-Shachar, Shay, additional, Ejeskär, Katarina, additional, Al Aqeel, Aida I, additional, High, Frances A, additional, Armstrong-Javors, Amy E, additional, Zahraei, Seyed Mohammadsaleh, additional, Seifi, Tahereh, additional, Zeighami, Jawaher, additional, Shariati, Gholamreza, additional, Sedaghat, Alireza, additional, Asl, Samaneh Noroozi, additional, Shahrooei, Mohmmad, additional, Zifarelli, Giovanni, additional, Burglen, Lydie, additional, Ravelli, Claudia, additional, Zschocke, Johannes, additional, Schatz, Ulrich A, additional, Ghavideldarestani, Maryam, additional, Kamel, Walaa A, additional, Van Esch, Hilde, additional, Hackenberg, Annette, additional, Taylor, Jenny C, additional, Al-Gazali, Lihadh, additional, Bauer, Peter, additional, Gleeson, Joseph J, additional, Alkuraya, Fowzan Sami, additional, Lupski, James R, additional, Galehdari, Hamid, additional, Azizimalamiri, Reza, additional, Chung, Wendy K, additional, Baig, Shahid Mahmood, additional, Houlden, Henry, additional, and Severino, Mariasavina, additional
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- 2023
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18. BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients
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Engel, Camille, primary, Valence, Stéphanie, additional, Delplancq, Geoffroy, additional, Maroofian, Reza, additional, Accogli, Andrea, additional, Agolini, Emanuele, additional, Alkuraya, Fowzan S., additional, Baglioni, Valentina, additional, Bagnasco, Irene, additional, Becmeur-Lefebvre, Mathilde, additional, Bertini, Enrico, additional, Borggraefe, Ingo, additional, Brischoux-Boucher, Elise, additional, Bruel, Ange-Line, additional, Brusco, Alfredo, additional, Bubshait, Dalal K., additional, Cabrol, Christelle, additional, Cilio, Maria Roberta, additional, Cornet, Marie-Coralie, additional, Coubes, Christine, additional, Danhaive, Olivier, additional, Delague, Valérie, additional, Denommé-Pichon, Anne-Sophie, additional, Di Giacomo, Marilena Carmela, additional, Doco-Fenzy, Martine, additional, Engels, Hartmut, additional, Cremer, Kirsten, additional, Gérard, Marion, additional, Gleeson, Joseph G., additional, Heron, Delphine, additional, Goffeney, Joanna, additional, Guimier, Anne, additional, Harms, Frederike L., additional, Houlden, Henry, additional, Iacomino, Michele, additional, Kaiyrzhanov, Rauan, additional, Kamien, Benjamin, additional, Karimiani, Ehsan Ghayoor, additional, Kraus, Dror, additional, Kuentz, Paul, additional, Kutsche, Kerstin, additional, Lederer, Damien, additional, Massingham, Lauren, additional, Mignot, Cyril, additional, Morris-Rosendahl, Déborah, additional, Nagarajan, Lakshmi, additional, Odent, Sylvie, additional, Ormières, Clothilde, additional, Partlow, Jennifer Neil, additional, Pasquier, Laurent, additional, Penney, Lynette, additional, Philippe, Christophe, additional, Piccolo, Gianluca, additional, Poulton, Cathryn, additional, Putoux, Audrey, additional, Rio, Marlène, additional, Rougeot, Christelle, additional, Salpietro, Vincenzo, additional, Scheffer, Ingrid, additional, Schneider, Amy, additional, Srivastava, Siddharth, additional, Straussberg, Rachel, additional, Striano, Pasquale, additional, Valente, Enza Maria, additional, Venot, Perrine, additional, Villard, Laurent, additional, Vitobello, Antonio, additional, Wagner, Johanna, additional, Wagner, Matias, additional, Zaki, Maha S., additional, Zara, Federizo, additional, Lesca, Gaetan, additional, Yassaee, Vahid Reza, additional, Miryounesi, Mohammad, additional, Hashemi-Gorji, Farzad, additional, Beiraghi, Mehran, additional, Ashrafzadeh, Farah, additional, Galehdari, Hamid, additional, Walsh, Christopher, additional, Novelli, Antonio, additional, Tacke, Moritz, additional, Sadykova, Dinara, additional, Maidyrov, Yerdan, additional, Koneev, Kairgali, additional, Shashkin, Chingiz, additional, Capra, Valeria, additional, Zamani, Mina, additional, Van Maldergem, Lionel, additional, Burglen, Lydie, additional, and Piard, Juliette, additional
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- 2023
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19. Brain and eye involvement in McCune-Albright Syndrome: clinical and translational insights
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Mascioli, Ilaria, primary, Iapadre, Giulia, additional, Ingrosso, Diletta, additional, Donato, Giulio Di, additional, Giannini, Cosimo, additional, Salpietro, Vincenzo, additional, Chiarelli, Francesco, additional, and Farello, Giovanni, additional
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- 2023
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20. Novel biallelic variants expand the phenotype of NAA20 ‐related syndrome
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D'Onofrio, Gianluca, primary, Cuccurullo, Claudia, additional, Larsen, Silje Kathrine, additional, Severino, Mariasavina, additional, D'Amico, Alessandra, additional, Brønstad, Kirsten, additional, AlOwain, Mohammed, additional, Morrison, Jennifer L., additional, Wheeler, Patricia G., additional, Webb, Bryn D., additional, Alfalah, Abdullah, additional, Iacomino, Michele, additional, Uva, Paolo, additional, Coppola, Antonietta, additional, Merla, Giuseppe, additional, Salpietro, Vincenzo Damiano, additional, Zara, Federico, additional, Striano, Pasquale, additional, Accogli, Andrea, additional, Arnesen, Thomas, additional, and Bilo, Leonilda, additional
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- 2023
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21. Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder
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D’Onofrio, Gianluca, primary, Accogli, Andrea, additional, Severino, Mariasavina, additional, Caliskan, Haluk, additional, Kokotović, Tomislav, additional, Blazekovic, Antonela, additional, Jercic, Kristina Gotovac, additional, Markovic, Silvana, additional, Zigman, Tamara, additional, Goran, Krnjak, additional, Barišić, Nina, additional, Duranovic, Vlasta, additional, Ban, Ana, additional, Borovecki, Fran, additional, Ramadža, Danijela Petković, additional, Barić, Ivo, additional, Fazeli, Walid, additional, Herkenrath, Peter, additional, Marini, Carla, additional, Vittorini, Roberta, additional, Gowda, Vykuntaraju, additional, Bouman, Arjan, additional, Rocca, Clarissa, additional, Alkhawaja, Issam Azmi, additional, Murtaza, Bibi Nazia, additional, Rehman, Malik Mujaddad Ur, additional, Al Alam, Chadi, additional, Nader, Gisele, additional, Mancardi, Maria Margherita, additional, Giacomini, Thea, additional, Srivastava, Siddharth, additional, Alvi, Javeria Raza, additional, Tomoum, Hoda, additional, Matricardi, Sara, additional, Iacomino, Michele, additional, Riva, Antonella, additional, Scala, Marcello, additional, Madia, Francesca, additional, Pistorio, Angela, additional, Salpietro, Vincenzo, additional, Minetti, Carlo, additional, Rivière, Jean-Baptiste, additional, Srour, Myriam, additional, Efthymiou, Stephanie, additional, Maroofian, Reza, additional, Houlden, Henry, additional, Vernes, Sonja Catherine, additional, Zara, Federico, additional, Striano, Pasquale, additional, and Nagy, Vanja, additional
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- 2023
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22. Eczematous Plaques after Bathing
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Manti, Sara, primary, Cuppari, Caterina, additional, and Salpietro, Carmelo Damiano, additional
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- 2019
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23. Introduction to Allergy
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Wall, Luke A., primary, Rahmani, Maryam, additional, Rahmani, Farzaneh, additional, Topalusic, Iva, additional, Esmaeilzadeh, Hossein, additional, Manti, Sara, additional, Sharafian, Samin, additional, Salpietro, Carmelo Damiano, additional, Cuppari, Caterina, additional, Gipson, Kevin S., additional, and Rezaei, Nima, additional
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- 2019
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24. Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish
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Patterson, Victoria, primary, Ullah, Farid, additional, Bryant, Laura, additional, Griffin, John N., additional, Sidhu, Alpa, additional, Saliganan, Sheila, additional, Blaile, Mackenzie, additional, Saenz, Margarita S., additional, Smith, Rosemarie, additional, Ellingwood, Sara, additional, Grange, Dorothy K., additional, Hu, Xuyun, additional, Mireguli, Maimaiti, additional, Luo, Yanfei, additional, Shen, Yiping, additional, Mulhern, Maureen, additional, Zackai, Elaine, additional, Ritter, Alyssa, additional, Izumi, Kosaki, additional, Hoefele, Julia, additional, Wagner, Matias, additional, Riedhammer, Korbinian M., additional, Seitz, Barbara, additional, Robin, Nathaniel H., additional, Goodloe, Dana, additional, Mignot, Cyril, additional, Keren, Boris, additional, Cox, Helen, additional, Jarvis, Joanna, additional, Hempel, Maja, additional, Gibson, Cynthia Forster, additional, Tran Mau-Them, Frederic, additional, Vitobello, Antonio, additional, Bruel, Ange-Line, additional, Sorlin, Arthur, additional, Mehta, Sarju, additional, Raymond, F. Lucy, additional, Gilmore, Kelly, additional, Powell, Bradford C., additional, Weck, Karen, additional, Li, Chumei, additional, Vulto-van Silfhout, Anneke T., additional, Giacomini, Thea, additional, Mancardi, Maria Margherita, additional, Accogli, Andrea, additional, Salpietro, Vincenzo, additional, Zara, Federico, additional, Vora, Neeta L., additional, Davis, Erica E., additional, Burdine, Rebecca, additional, and Bhoj, Elizabeth, additional
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- 2023
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25. Elucidating the clinical and molecular spectrum ofSMARCC2-associated NDD in a cohort of 65 affected individuals
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Bosch, Elisabeth, primary, Popp, Bernt, additional, Güse, Esther, additional, Skinner, Cindy, additional, van der Sluijs, Pleuntje J., additional, Maystadt, Isabelle, additional, Pinto, Anna Maria, additional, Renieri, Alessandra, additional, Bruno, Lucia Pia, additional, Granata, Stefania, additional, Marcelis, Carlo, additional, Baysal, Özlem, additional, Hartwich, Dewi, additional, Holthöfer, Laura, additional, Isidor, Bertrand, additional, Cogne, Benjamin, additional, Wieczorek, Dagmar, additional, Capra, Valeria, additional, Scala, Marcello, additional, De Marco, Patrizia, additional, Ognibene, Marzia, additional, Jamra, Rami Abou, additional, Platzer, Konrad, additional, Carter, Lauren B., additional, Kuismin, Outi, additional, van Haeringen, Arie, additional, Maroofian, Reza, additional, Valenzuela, Irene, additional, Cuscò, Ivon, additional, Martinez-Agosto, Julian A., additional, Rabani, Ahna M., additional, Mefford, Heather C., additional, Pereira, Elaine M., additional, Close, Charlotte, additional, Anyane-Yeboa, Kwame, additional, Wagner, Mallory, additional, Hannibal, Mark C., additional, Zacher, Pia, additional, Thiffault, Isabelle, additional, Beunders, Gea, additional, Umair, Muhammad, additional, Bhola, Priya T., additional, McGinnis, Erin, additional, Millichap, John, additional, van de Kamp, Jiddeke M, additional, Prijoles, Eloise J., additional, Dobson, Amy, additional, Shillington, Amelle, additional, Graham, Brett H., additional, Garcia, Evan-Jacob, additional, Galindo, Maureen Kelly, additional, Ropers, Fabienne G., additional, Nibbeling, Esther AR, additional, Hubbard, Gail, additional, Karimov, Catherine, additional, Goj, Guido, additional, Bend, Renee, additional, Rath, Julie, additional, Morrow, Michelle M, additional, Millan, Francisca, additional, Salpietro, Vincenzo, additional, Torella, Annalaura, additional, Nigro, Vincenzo, additional, Kurki, Mitja, additional, Stevenson, Roger E, additional, Santen, Gijs W.E., additional, Zweier, Markus, additional, Campeau, Philippe M., additional, Severino, Mariasavina, additional, Reis, André, additional, Accogli, Andrea, additional, and Vasileiou, Georgia, additional
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- 2023
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26. Trends in chronic hepatitis B virus infection in Italy over a 10-year period: Clues from the nationwide PITER and MASTER cohorts toward elimination
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Brancaccio, Giuseppina, primary, Coco, Barbara, additional, Nardi, Alessandra, additional, Quaranta, Maria Giovanna, additional, Tosti, Maria Elena, additional, Ferrigno, Luigina, additional, Cacciola, Irene, additional, Messina, Vincenzo, additional, Chessa, Luchino, additional, Morisco, Filomena, additional, Milella, Michele, additional, Barbaro, Francesco, additional, Ciancio, Alessia, additional, Russo, Francesco Paolo, additional, Coppola, Nicola, additional, Blanc, Pierluigi, additional, Claar, Ernesto, additional, Verucchi, Gabriella, additional, Puoti, Massimo, additional, Zignego, Anna Linda, additional, Chemello, Liliana, additional, Madonia, Salvatore, additional, Fagiuoli, Stefano, additional, Marzano, Alfredo, additional, Ferrari, Carlo, additional, Lampertico, Pietro, additional, Di Marco, Vito, additional, Craxì, Antonio, additional, Santantonio, Teresa Antonia, additional, Raimondo, Giovanni, additional, Brunetto, Maurizia R., additional, Gaeta, Giovanni Battista, additional, Kondili, Loreta A., additional, Pasulo, Luisa, additional, Coppola, Carmine, additional, Pisano, Federica, additional, Romano, Mariarosaria, additional, Porcu, Carmen, additional, Bottalico, Irene Francesca, additional, Cossiga, Valentina, additional, Tata, Xhimi, additional, Sagnelli, Caterina, additional, Pierotti, Piera, additional, Degasperi, Elisabetta, additional, Rosato, Valerio, additional, Badia, Lorenzo, additional, Ieluzzi, Dontella, additional, Monti, Monica, additional, Bavetta, Maria Grazia, additional, Cavalletto, Luisa, additional, Toniutto, Pierluigi, additional, Fornasiere, Ezio, additional, Colecchia, Antonio, additional, Ferrarese, Alberto, additional, Nardone, Gerardo, additional, Rocco, Alba, additional, Viganò, Mauro, additional, Foschi, Francesco Giuseppe, additional, Conti, Fabio, additional, Morsica, Giulia, additional, Salpietro, Stefania, additional, Torti, Carlo, additional, Costa, Chiara, additional, Federico, Alessandro, additional, Dallio, Marcello, additional, Giorgini, Alessia, additional, Anselmo, Marco, additional, De Leo, Pasqualina, additional, Zaltron, Serena, additional, Cambianica, Anna, additional, Piscaglia, Fabio, additional, Serio, Ilaria, additional, Schivazappa, Simona, additional, Mastroianni, Antonio, additional, Chidichimo, Luciana, additional, Massari, Marco, additional, Mazzaro, Cesare, additional, Marrone, Aldo, additional, D'Amore, Francesca Maria, additional, D'Offizi, Gianpiero, additional, Licata, Anna, additional, Niro, Grazia Anna, additional, Pollicino, Teresa, additional, and Aghemo, Alessio, additional
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- 2023
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27. CARD11 dominant negative mutation leads to altered human Natural Killer cell homeostasis
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Baronio, Manuela, primary, Gazzurelli, Luisa, additional, Rezzola, Sara, additional, Rossi, Stefano, additional, Tessarin, Giulio, additional, Marinoni, Maddalena, additional, Damiano, Annamaria Salpietro, additional, Fiore, Michele, additional, Moratto, Daniele, additional, Chiarini, Marco, additional, Badolato, Raffaele, additional, Parolini, Silvia, additional, Tabellini, Giovanna, additional, and Lougaris, Vassilios, additional
- Published
- 2023
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28. Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy
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Carapancea, Evelina, primary, Cornet, Marie-Coralie, additional, Milh, Mathieu, additional, De Cosmo, Lucrezia, additional, Huang, Eric J., additional, Granata, Tiziana, additional, Striano, Pasquale, additional, Ceulemans, Berten, additional, Stein, Anja, additional, Morris-Rosendahl, Deborah, additional, Conti, Greta, additional, Mitra, Nipa, additional, Raymond, F. Lucy, additional, Rowitch, David H., additional, Solazzi, Roberta, additional, Vercellino, Fabiana, additional, De Liso, Paola, additional, D'Onofrio, Gianluca, additional, Boniver, Clementina, additional, Danhaive, Olivier, additional, Carkeek, Katherine, additional, Salpietro, Vincenzo, additional, Weckhuysen, Sarah, additional, Fedrigo, Marny, additional, Angelini, Annalisa, additional, Castellotti, Barbara, additional, Lederer, Damien, additional, Benoit, Valerie, additional, Raviglione, Federico, additional, Guerrini, Renzo, additional, Dilena, Robertino, additional, and Cilio, Maria Roberta, additional
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- 2023
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29. The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders
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Saffari, Afshin, primary, Lau, Tracy, additional, Tajsharghi, Homa, additional, Karimiani, Ehsan Ghayoor, additional, Kariminejad, Ariana, additional, Efthymiou, Stephanie, additional, Zifarelli, Giovanni, additional, Sultan, Tipu, additional, Toosi, Mehran Beiraghi, additional, Sedighzadeh, Sahar, additional, Siu, Victoria Mok, additional, Ortigoza-Escobar, Juan Darío, additional, AlShamsi, Aisha M, additional, Ibrahim, Shahnaz, additional, Al-Sannaa, Nouriya Abbas, additional, Al-Hertani, Walla, additional, Sandra, Whalen, additional, Tarnopolsky, Mark, additional, Alavi, Shahryar, additional, Li, Chumei, additional, Day-Salvatore, Debra-Lynn, additional, Martínez-González, Maria Jesús, additional, Levandoski, Kristin M, additional, Bedoukian, Emma, additional, Madan-Khetarpal, Suneeta, additional, Idleburg, Michaela J, additional, Menezes, Minal Juliet, additional, Siddharth, Aishwarya, additional, Platzer, Konrad, additional, Oppermann, Henry, additional, Smitka, Martin, additional, Collins, Felicity, additional, Lek, Monkol, additional, Shahrooei, Mohmmad, additional, Ghavideldarestani, Maryam, additional, Herman, Isabella, additional, Rendu, John, additional, Faure, Julien, additional, Baker, Janice, additional, Bhambhani, Vikas, additional, Calderwood, Laurel, additional, Akhondian, Javad, additional, Imannezhad, Shima, additional, Mirzadeh, Hanieh Sadat, additional, Hashemi, Narges, additional, Doosti, Mohammad, additional, Safi, Mojtaba, additional, Ahangari, Najmeh, additional, Torbati, Paria Najarzadeh, additional, Abedini, Soheila, additional, Salpietro, Vincenzo, additional, Gulec, Elif Yilmaz, additional, Eshaghian, Safieh, additional, Ghazavi, Mohammadreza, additional, Pascher, Michael T, additional, Vogel, Marina, additional, Abicht, Angela, additional, Moutton, Sébastien, additional, Bruel, Ange-Line, additional, Rieubland, Claudine, additional, Gallati, Sabina, additional, Strom, Tim M, additional, Lochmüller, Hanns, additional, Mohammadi, Mohammad Hasan, additional, Alvi, Javeria Raza, additional, Zackai, Elaine H, additional, Keena, Beth A, additional, Skraban, Cara M, additional, Berger, Seth I, additional, Andrew, Erin H, additional, Rahimian, Elham, additional, Morrow, Michelle M, additional, Wentzensen, Ingrid M, additional, Millan, Francisca, additional, Henderson, Lindsay B, additional, Dafsari, Hormos Salimi, additional, Jungbluth, Heinz, additional, Gomez-Ospina, Natalia, additional, McRae, Anne, additional, Peter, Merlene, additional, Veltra, Danai, additional, Marinakis, Nikolaos M, additional, Sofocleous, Christalena, additional, Ashrafzadeh, Farah, additional, Pehlivan, Davut, additional, Lemke, Johannes R, additional, Melki, Judith, additional, Benezit, Audrey, additional, Bauer, Peter, additional, Weis, Denisa, additional, Lupski, James R, additional, Senderek, Jan, additional, Christodoulou, John, additional, Chung, Wendy K, additional, Goodchild, Rose, additional, Offiah, Amaka C, additional, Moreno-De-Luca, Andres, additional, Suri, Mohnish, additional, Ebrahimi-Fakhari, Darius, additional, Houlden, Henry, additional, and Maroofian, Reza, additional
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- 2023
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30. Mitochondrial DNA involvement in patients with autism spectrum disorders and intellectual disability
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Scuderi, Carmela, primary, Santa Paola, Sandro, additional, Lo Giudice, Mariangela, additional, Di Blasi, Francesco Domenico, additional, Giusto, Stefania, additional, Di Vita, Giuseppa, additional, Pettinato, Rosa, additional, Vitello, Girolamo Aurelio, additional, Romano, Corrado, additional, Buono, Serafino, additional, Salpietro, Vincenzo, additional, Houlden, Henry, additional, and Borgione, Eugenia, additional
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- 2023
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31. Genetic Background and Molecular Mechanisms of Juvenile Idiopathic Arthritis
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La Bella, Saverio, primary, Rinaldi, Marta, additional, Di Ludovico, Armando, additional, Di Donato, Giulia, additional, Di Donato, Giulio, additional, Salpietro, Vincenzo, additional, Chiarelli, Francesco, additional, and Breda, Luciana, additional
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- 2023
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32. Epilepsy in Joubert Syndrome: A Still Few Explored Matter
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Prato, Adriana, additional, Scuderi, Anna, additional, Amore, Greta, additional, Spoto, Giulia, additional, Salpietro, Vincenzo, additional, Ceravolo, Antonio, additional, Farello, Giovanni, additional, Iapadre, Giulia, additional, Pironti, Erica, additional, Dicanio, Daniela, additional, and Rosa, Gabriella Di, additional
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- 2023
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33. Radiological Features of Joubert's Syndrome
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Stroscio, Giovanni, additional, Cuppari, Caterina, additional, Ceravolo, Maria Domenica, additional, Salpietro, Annamaria, additional, Battaglia, Francesco, additional, Sallemi, Alessia, additional, Fusco, Monica, additional, Ceravolo, Antonio, additional, Iapadre, Giulia, additional, Calì, Elisa, additional, Impollonia, Daniela, additional, and Granata, Francesca, additional
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- 2023
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34. An Overview of Genes Involved in the Pure Joubert Syndrome and in Joubert Syndrome-Related Disorders (JSRD)
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Amorini, Maria, additional, Iapadre, Giulia, additional, Mancuso, Alessio, additional, Ceravolo, Ida, additional, Farello, Giovanni, additional, Scardamaglia, Annarita, additional, Gramaglia, Simone, additional, Ceravolo, Antonio, additional, Salpietro, Annamaria, additional, and Cuppari, Caterina, additional
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- 2023
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35. A Brief Focus on Joubert Syndrome and Related Acute Complications
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Manti, Sara, additional, Gitto, Eloisa, additional, Ceravolo, Ida, additional, Mancuso, Alessio, additional, Ceravolo, Antonio, additional, Salpietro, Annamaria, additional, Farello, Giovanni, additional, Chimenz, Roberto, additional, Iapadre, Giulia, additional, Battaglia, Francesco, additional, and Cuppari, Caterina, additional
- Published
- 2023
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36. Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies
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Accogli, Andrea, primary, Zaki, Maha S, additional, Al-Owain, Mohammed, additional, Otaif, Mansour Y, additional, Jackson, Adam, additional, Argilli, Emanuela, additional, Chandler, Kate E, additional, De Goede, Christian G E L, additional, Cora, Tülün, additional, Alvi, Javeria Raza, additional, Eslahi, Atieh, additional, Asl Mohajeri, Mahsa Sadat, additional, Ashtiani, Setareh, additional, Au, P Y Billie, additional, Scocchia, Alicia, additional, Alakurtti, Kirsi, additional, Pagnamenta, Alistair T, additional, Toosi, Mehran Beiraghi, additional, Karimiani, Ehsan Ghayoor, additional, Mojarrad, Majid, additional, Arab, Fatemeh, additional, Duymuş, Fahrettin, additional, Scantlebury, Morris H, additional, Yeşil, Gözde, additional, Rosenfeld, Jill Anne, additional, Türkyılmaz, Ayberk, additional, Sağer, Safiye Güneş, additional, Sultan, Tipu, additional, Ashrafzadeh, Farah, additional, Zahra, Tatheer, additional, Rahman, Fatima, additional, Maqbool, Shazia, additional, Abdel-Hamid, Mohamed S, additional, Issa, Mahmoud Y, additional, Efthymiou, Stephanie, additional, Bauer, Peter, additional, Zifarelli, Giovanni, additional, Salpietro, Vincenzo, additional, Al-Hassnan, Zuhair, additional, Banka, Siddharth, additional, Sherr, Elliot H, additional, Gleeson, Joseph G, additional, Striano, Pasquale, additional, Houlden, Henry, additional, Severino, Mariasavina, additional, and Maroofian, Reza, additional
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- 2023
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37. Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities
- Author
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Cali, Elisa, primary, Suri, Mohnish, additional, Scala, Marcello, additional, Ferla, Matteo P., additional, Alavi, Shahryar, additional, Faqeih, Eissa Ali, additional, Bijlsma, Emilia K., additional, Wigby, Kristen M., additional, Baralle, Diana, additional, Mehrjardi, Mohammad Y.V., additional, Schwab, Jennifer, additional, Platzer, Konrad, additional, Steindl, Katharina, additional, Hashem, Mais, additional, Jones, Marilyn, additional, Niyazov, Dmitriy M., additional, Jacober, Jennifer, additional, Littlejohn, Rebecca Okashah, additional, Weis, Denisa, additional, Zadeh, Neda, additional, Rodan, Lance, additional, Goldenberg, Alice, additional, Lecoquierre, François, additional, Dutra-Clarke, Marina, additional, Horvath, Gabriella, additional, Young, Dana, additional, Orenstein, Naama, additional, Bawazeer, Shahad, additional, Vulto-van Silfhout, Anneke T., additional, Herenger, Yvan, additional, Dehghani, Mohammadreza, additional, Seyedhassani, Seyed Mohammad, additional, Bahreini, Amir, additional, Nasab, Mahya E., additional, Ercan-Sencicek, A. Gulhan, additional, Firoozfar, Zahra, additional, Movahedinia, Mojtaba, additional, Efthymiou, Stephanie, additional, Striano, Pasquale, additional, Karimiani, Ehsan Ghayoor, additional, Salpietro, Vincenzo, additional, Taylor, Jenny C., additional, Redman, Melody, additional, Stegmann, Alexander P.A., additional, Laner, Andreas, additional, Abdel-Salam, Ghada, additional, Li, Megan, additional, Bengala, Mario, additional, Müller, Amelie Johanna, additional, Digilio, Maria C., additional, Rauch, Anita, additional, Gunel, Murat, additional, Titheradge, Hannah, additional, Schweitzer, Daniela N., additional, Kraus, Alison, additional, Valenzuela, Irene, additional, McLean, Scott D., additional, Phornphutkul, Chanika, additional, Salih, Mustafa, additional, Begtrup, Amber, additional, Schnur, Rhonda E., additional, Torti, Erin, additional, Haack, Tobias B., additional, Prada, Carlos E., additional, Alkuraya, Fowzan S., additional, Houlden, Henry, additional, and Maroofian, Reza, additional
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- 2023
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38. Meckel Syndrome: A Clinical and Molecular Overview
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Valentini, Giulia, additional, Saia, Maria, additional, Farello, Giovanni, additional, Salpietro, Vincenzo, additional, Mancuso, Alessio, additional, Ceravolo, Ida, additional, Colucci, Pia V., additional, Torre, Manuela, additional, Iapadre, Giulia, additional, Rosa, Gabriella Di, additional, and Cucinotta, Francesca, additional
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- 2022
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39. Age-Related Neurodevelopmental Features in Children with Joubert Syndrome
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Scuderi, Anna, additional, Prato, Adriana, additional, Dicanio, Daniela, additional, Spoto, Giulia, additional, Salpietro, Vincenzo, additional, Ceravolo, Giorgia, additional, Granata, Francesca, additional, Farello, Giovanni, additional, Iapadre, Giulia, additional, Zagaroli, Luca, additional, Nanni, Giuliana, additional, Ceravolo, Ida, additional, Pironti, Erica, additional, Amore, Greta, additional, and Rosa, Gabriella Di, additional
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- 2022
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40. Alström's Syndrome: Neurological Manifestations and Genetics
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Spoto, Giulia, additional, Pironti, Erica, additional, Amore, Greta, additional, Prato, Adriana, additional, Scuderi, Anna, additional, Colucci, Pia V., additional, Ceravolo, Ida, additional, Farello, Giovanni, additional, Salpietro, Vincenzo, additional, Iapadre, Giulia, additional, Rosa, Gabriella Di, additional, and Dicanio, Daniela, additional
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- 2022
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41. Bardet–Biedl Syndrome: A Brief Overview on Clinics and Genetics
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Amore, Greta, additional, Spoto, Giulia, additional, Scuderi, Anna, additional, Prato, Adriana, additional, Dicanio, Daniela, additional, Nicotera, Antonio, additional, Farello, Giovanni, additional, Chimenz, Roberto, additional, Ceravolo, Ida, additional, Salpietro, Vincenzo, additional, Gitto, Eloisa, additional, Ceravolo, Giorgia, additional, Iapadre, Giulia, additional, Rosa, Gabriella Di, additional, and Pironti, Erica, additional
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- 2022
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42. Joubert Syndrome with Oral-Facial-Digital Defect (JS-OFD): A Brief Overview on Clinics and Genetics
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Cuppari, Caterina, additional, Salpietro, Annamaria, additional, Chimenz, Roberto, additional, Colavita, Laura, additional, Ceravolo, Maria Domenica, additional, Gitto, Eloisa, additional, Sallemi, Alessia, additional, Fusco, Monica, additional, Ceravolo, Ida, additional, Farello, Giovanni, additional, Iapadre, Giulia, additional, Rocca, Clarissa, additional, Salazar, Ainara, additional, and Mancuso, Alessio, additional
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- 2022
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43. Ciliopathies: Genetic Counseling
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Cuppari, Caterina, additional, Salpietro, Annamaria, additional, Ceravolo, Ida, additional, Iapadre, Giulia, additional, Fusco, Monica, additional, Sallemi, Alessia, additional, Mancuso, Alessio, additional, Farello, Giovanni, additional, and Ceravolo, Maria Domenica, additional
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- 2022
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44. Hydranencephaly in CENPJ-related Seckel syndrome
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Cuccurullo, Claudia, primary, Miele, Giuseppina, additional, Piccolo, Gianluca, additional, Bilo, Leonilda, additional, Accogli, Andrea, additional, D'Amico, Alessandra, additional, Fratta, Mario, additional, Guerrisi, Sara, additional, Iacomino, Michele, additional, Salpietro, Vincenzo, additional, Ugga, Lorenzo, additional, Striano, Pasquale, additional, and Coppola, Antonietta, additional
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- 2022
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45. Modelling the impact of protein-kinase R allelic variant on HIV biomarkers trajectories by means of latent class mixed models
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Brombin, Chiara, primary, Bagaglio, Sabrina, additional, Cugnata, Federica, additional, Castagna, Antonella, additional, Uberti-Foppa, Caterina, additional, Salpietro, Stefania, additional, Di Serio, Clelia, additional, and Morsica, Giulia, additional
- Published
- 2022
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46. Abnormal course of the corticospinal tracts in KIF5C-related encephalopathy
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Naim, Alessandro, primary, Accogli, Andrea, additional, Amadori, Elisabetta, additional, D'Onofrio, Gianluca, additional, Madia, Francesca, additional, Tortora, Domenico, additional, Zara, Federico, additional, Striano, Pasquale, additional, Salpietro, Vincenzo, additional, and Severino, Mariasavina, additional
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- 2022
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47. Clinical and electroencephalographic features of epilepsy in patients with triple X syndrome: A case series
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Dell'Isola, Giovanni Battista, primary, Mencaroni, Elisabetta, additional, Prontera, Paolo, additional, Cara, Giuseppe Di, additional, Ferraro, Luigi, additional, Bonanni, Paolo, additional, Carotenuto, Marco, additional, Iapadre, Giulia, additional, Matricardi, Sara, additional, Operto, Francesca, additional, Orsini, Alessandro, additional, Parisi, Pasquale, additional, Pavone, Piero, additional, Salpietro, Vincenzo, additional, Savasta, Salvatore, additional, Striano, Pasquale, additional, and Verrotti, Alberto, additional
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- 2022
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48. Editorial: Genetically determined epilepsies: Perspectives in the era of precision medicine
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Mastrangelo, Mario, primary, Salpietro, Vincenzo, additional, and Sullivan, Joseph, additional
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- 2022
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49. The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment
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Fiorillo, Chiara, primary, Capodivento, Giovanna, additional, Geroldi, Alessandro, additional, Tozza, Stefano, additional, Moroni, Isabella, additional, Mohassel, Payam, additional, Cataldi, Matteo, additional, Campana, Chiara, additional, Morando, Simone, additional, Panicucci, Chiara, additional, Pedemonte, Marina, additional, Brolatti, Noemi, additional, Siliquini, Sabrina, additional, Traverso, Monica, additional, Baratto, Serena, additional, Debellis, Doriana, additional, Magri, Stefania, additional, Prada, Valeria, additional, Bellone, Emilia, additional, Salpietro, Vincenzo, additional, Donkervoort, Sandra, additional, Gable, Kenneth, additional, Gupta, Sita D., additional, Dunn, Teresa M., additional, Bönnemann, Carsten G., additional, Taroni, Franco, additional, Bruno, Claudio, additional, Schenone, Angelo, additional, Mandich, Paola, additional, Nobbio, Lucilla, additional, and Nolano, Maria, additional
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- 2022
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50. ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model
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Vitobello, Antonio, primary, Mazel, Benoit, additional, Lelianova, Vera G., additional, Zangrandi, Alice, additional, Petitto, Evelina, additional, Suckling, Jason, additional, Salpietro, Vincenzo, additional, Meyer, Robert, additional, Elbracht, Miriam, additional, Kurth, Ingo, additional, Eggermann, Thomas, additional, Benlaouer, Ouafa, additional, Lall, Gurprit, additional, Tonevitsky, Alexander G., additional, Scott, Daryl A., additional, Chan, Katie M., additional, Rosenfeld, Jill A., additional, Nambot, Sophie, additional, Safraou, Hana, additional, Bruel, Ange-Line, additional, Denommé-Pichon, Anne-Sophie, additional, Tran Mau-Them, Frédéric, additional, Philippe, Christophe, additional, Duffourd, Yannis, additional, Guo, Hui, additional, Petersen, Andrea K., additional, Granger, Leslie, additional, Crunk, Amy, additional, Bayat, Allan, additional, Striano, Pasquale, additional, Zara, Federico, additional, Scala, Marcello, additional, Thomas, Quentin, additional, Delahaye, Andrée, additional, de Sainte Agathe, Jean-Madeleine, additional, Buratti, Julien, additional, Kozlov, Serguei V., additional, Faivre, Laurence, additional, Thauvin-Robinet, Christel, additional, and Ushkaryov, Yuri, additional
- Published
- 2022
- Full Text
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