868 results on '"A. Salpietro"'
Search Results
2. Emergence of transmissible SARS-CoV-2 variants with decreased sensitivity to antivirals in immunocompromised patients with persistent infections
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Nooruzzaman, Mohammed, Johnson, Katherine E. E., Rani, Ruchi, Finkelsztein, Eli J., Caserta, Leonardo C., Kodiyanplakkal, Rosy P., Wang, Wei, Hsu, Jingmei, Salpietro, Maria T., Banakis, Stephanie, Albert, Joshua, Westblade, Lars F., Zanettini, Claudio, Marchionni, Luigi, Soave, Rosemary, Ghedin, Elodie, Diel, Diego G., and Salvatore, Mirella
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- 2024
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3. Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications
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Chelban, Viorica, Aksnes, Henriette, Maroofian, Reza, LaMonica, Lauren C., Seabra, Luis, Siggervåg, Anette, Devic, Perrine, Shamseldin, Hanan E., Vandrovcova, Jana, Murphy, David, Richard, Anne-Claire, Quenez, Olivier, Bonnevalle, Antoine, Zanetti, M. Natalia, Kaiyrzhanov, Rauan, Salpietro, Vincenzo, Efthymiou, Stephanie, Schottlaender, Lucia V., Morsy, Heba, Scardamaglia, Annarita, Tariq, Ambreen, Pagnamenta, Alistair T., Pennavaria, Ajia, Krogstad, Liv S., Bekkelund, Åse K., Caiella, Alessia, Glomnes, Nina, Brønstad, Kirsten M., Tury, Sandrine, Moreno De Luca, Andrés, Boland-Auge, Anne, Olaso, Robert, Deleuze, Jean-François, Anheim, Mathieu, Cretin, Benjamin, Vona, Barbara, Alajlan, Fahad, Abdulwahab, Firdous, Battini, Jean-Luc, İpek, Rojan, Bauer, Peter, Zifarelli, Giovanni, Gungor, Serdal, Kurul, Semra Hiz, Lochmuller, Hanns, Da’as, Sahar I., Fakhro, Khalid A., Gómez-Pascual, Alicia, Botía, Juan A., Wood, Nicholas W., Horvath, Rita, Ernst, Andreas M., Rothman, James E., McEntagart, Meriel, Crow, Yanick J., Alkuraya, Fowzan S., Nicolas, Gaël, Arnesen, Thomas, and Houlden, Henry
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- 2024
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4. Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation
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Accogli, Andrea, Shakya, Saurabh, Yang, Taewoo, Insinna, Christine, Kim, Soo Yeon, Bell, David, Butov, Kirill R., Severino, Mariasavina, Niceta, Marcello, Scala, Marcello, Lee, Hyun Sik, Yoo, Taekyeong, Stauffer, Jimmy, Zhao, Huijie, Fiorillo, Chiara, Pedemonte, Marina, Diana, Maria C., Baldassari, Simona, Zakharova, Viktoria, Shcherbina, Anna, Rodina, Yulia, Fagerberg, Christina, Roos, Laura Sønderberg, Wierzba, Jolanta, Dobosz, Artur, Gerard, Amanda, Potocki, Lorraine, Rosenfeld, Jill A., Lalani, Seema R., Scott, Tiana M., Scott, Daryl, Azamian, Mahshid S., Louie, Raymond, Moore, Hannah W., Champaigne, Neena L., Hollingsworth, Grace, Torella, Annalaura, Nigro, Vincenzo, Ploski, Rafal, Salpietro, Vincenzo, Zara, Federico, Pizzi, Simone, Chillemi, Giovanni, Ognibene, Marzia, Cooney, Erin, Do, Jenny, Linnemann, Anders, Larsen, Martin J., Specht, Suzanne, Walters, Kylie J., Choi, Hee-Jung, Choi, Murim, Tartaglia, Marco, Youkharibache, Phillippe, Chae, Jong-Hee, Capra, Valeria, Park, Sung-Gyoo, and Westlake, Christopher J.
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- 2024
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5. A second hotspot for pathogenic exon-skipping variants in CDC45
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Schoch, Kelly, Ruegg, Mischa S. G., Fellows, Bridget J., Cao, Joseph, Uhrig, Sabine, Einsele-Scholz, Stephanie, Biskup, Saskia, Hawarden, Samuel R. A., Salpietro, Vincenzo, Capra, Valeria, Brown, Chris M., Accogli, Andrea, Shashi, Vandana, and Bicknell, Louise S.
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- 2024
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6. Emergence of transmissible SARS-CoV-2 variants with decreased sensitivity to antivirals in immunocompromised patients with persistent infections
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Mohammed Nooruzzaman, Katherine E. E. Johnson, Ruchi Rani, Eli J. Finkelsztein, Leonardo C. Caserta, Rosy P. Kodiyanplakkal, Wei Wang, Jingmei Hsu, Maria T. Salpietro, Stephanie Banakis, Joshua Albert, Lars F. Westblade, Claudio Zanettini, Luigi Marchionni, Rosemary Soave, Elodie Ghedin, Diego G. Diel, and Mirella Salvatore
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Science - Abstract
Abstract We investigated the impact of antiviral treatment on the emergence of SARS-CoV-2 resistance during persistent infections in immunocompromised patients (n = 15). All patients received remdesivir and some also received nirmatrelvir-ritonavir (n = 3) or therapeutic monoclonal antibodies (n = 4). Sequence analysis showed that nine patients carried viruses with mutations in the nsp12 (RNA dependent RNA polymerase), while four had viruses with nsp5 (3C protease) mutations. Infectious SARS-CoV-2 with a double mutation in nsp5 (T169I) and nsp12 (V792I) was recovered from respiratory secretions 77 days after initial COVID-19 diagnosis from a patient sequentially treated with nirmatrelvir-ritonavir and remdesivir. In vitro characterization confirmed its decreased sensitivity to remdesivir and nirmatrelvir, which was overcome by combined antiviral treatment. Studies in golden Syrian hamsters demonstrated efficient transmission to contact animals. This study documents the isolation of SARS-CoV-2 carrying resistance mutations to both nirmatrelvir and remdesivir from a patient and demonstrates its transmissibility in vivo.
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- 2024
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7. Neurological and psychiatric phenotype of a multicenter cohort of patients with SETD5-related neurodevelopmental disorder
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De Falco, Alessandro, De Dominicis, Angela, Trivisano, Marina, Specchio, Nicola, Digilio, Maria Cristina, Piscopo, Carmelo, Capra, Valeria, Scala, Marcello, Iacomino, Michele, Accogli, Andrea, Romano, Ferruccio, Salpietro, Vincenzo, Mancardi, Margherita, Striano, Pasquale, Operto, Francesca Felicia, Gburek-Augustat, Janina, Perrin, Laurence, Capri, Yline, Lupo, Viviana, Elia, Maurizio, Manti, Filippo, Pisani, Francesco, Brunetti-Pierri, Nicola, and Terrone, Gaetano
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- 2025
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8. Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variantsResearch in context
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Nazanin Azarinejad Mohammadi, Philip Kiær Ahring, Vivian Wan Yu Liao, Han Chow Chua, Sebastián Ortiz de la Rosa, Katrine Marie Johannesen, Yael Michaeli-Yossef, Aline Vincent-Devulder, Catherine Meridda, Ange-Line Bruel, Alessandra Rossi, Chirag Patel, Joerg Klepper, Paolo Bonanni, Sara Minghetti, Marina Trivisano, Nicola Specchio, David Amor, Stéphane Auvin, Sarah Baer, Pierre Meyer, Mathieu Milh, Vincenzo Salpietro, Reza Maroofian, Johannes R. Lemke, Sarah Weckhuysen, Palle Christophersen, Guido Rubboli, Mary Chebib, Anders A. Jensen, Nathan L. Absalom, and Rikke Steensbjerre Møller
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GABAA receptors ,Gain-of-function ,Epilepsy ,Seizures ,Dystonia ,Movement disorders ,Medicine ,Medicine (General) ,R5-920 - Abstract
Summary: Background: Variants in GABRB2, encoding the β2 subunit of the γ-aminobutyric acid type A (GABAA) receptor, can result in a diverse range of conditions, ranging from febrile seizures to severe developmental and epileptic encephalopathies. However, the mechanisms underlying the risk of developing milder vs more severe forms of disorder remain unclear. In this study, we conducted a comprehensive genotype–phenotype correlation analysis in a cohort of individuals with GABRB2 variants. Methods: Genetic and electroclinical data of 42 individuals harbouring 26 different GABRB2 variants were collected and accompanied by electrophysiological analysis of the effects of the variants on receptor function. Findings: Electrophysiological assessments of α1β2γ2 receptors revealed that 25/26 variants caused dysfunction to core receptor properties such as GABA sensitivity. Of these, 17 resulted in gain-of-function (GOF) while eight yielded loss-of-function traits (LOF). Genotype-phenotype correlation analysis revealed that individuals harbouring GOF variants suffered from severe developmental delay/intellectual disability (DD/ID, 74%), movement disorders such as dystonia or dyskinesia (59%), microcephaly (50%) and high risk of early mortality (26%). Conversely, LOF variants were associated with milder disease manifestations. Individuals with these variants typically exhibited fever-triggered seizures (92%), milder degrees of DD/ID (85%), and maintained ambulatory function (85%). Notably, severe movement disorders or microcephaly were not reported in individuals with loss-of-function variants. Interpretation: The data reveals that genetic variants in GABRB2 can lead to both gain and loss-of-function, and this divergence is correlated with distinct disease manifestations. Utilising this information, we constructed a diagnostic flowchart that aids in predicting the pathogenicity of recently identified variants by considering clinical phenotypes. Funding: This work was funded by the Australian National Health & Medical Research Council, the Novo Nordisk Foundation and The Lundbeck Foundation.
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- 2024
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9. Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications
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Viorica Chelban, Henriette Aksnes, Reza Maroofian, Lauren C. LaMonica, Luis Seabra, Anette Siggervåg, Perrine Devic, Hanan E. Shamseldin, Jana Vandrovcova, David Murphy, Anne-Claire Richard, Olivier Quenez, Antoine Bonnevalle, M. Natalia Zanetti, Rauan Kaiyrzhanov, Vincenzo Salpietro, Stephanie Efthymiou, Lucia V. Schottlaender, Heba Morsy, Annarita Scardamaglia, Ambreen Tariq, Alistair T. Pagnamenta, Ajia Pennavaria, Liv S. Krogstad, Åse K. Bekkelund, Alessia Caiella, Nina Glomnes, Kirsten M. Brønstad, Sandrine Tury, Andrés Moreno De Luca, Anne Boland-Auge, Robert Olaso, Jean-François Deleuze, Mathieu Anheim, Benjamin Cretin, Barbara Vona, Fahad Alajlan, Firdous Abdulwahab, Jean-Luc Battini, Rojan İpek, Peter Bauer, Giovanni Zifarelli, Serdal Gungor, Semra Hiz Kurul, Hanns Lochmuller, Sahar I. Da’as, Khalid A. Fakhro, Alicia Gómez-Pascual, Juan A. Botía, Nicholas W. Wood, Rita Horvath, Andreas M. Ernst, James E. Rothman, Meriel McEntagart, Yanick J. Crow, Fowzan S. Alkuraya, Gaël Nicolas, SYNaPS Study Group, Thomas Arnesen, and Henry Houlden
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Science - Abstract
Abstract Primary familial brain calcification (PFBC) is characterized by calcium deposition in the brain, causing progressive movement disorders, psychiatric symptoms, and cognitive decline. PFBC is a heterogeneous disorder currently linked to variants in six different genes, but most patients remain genetically undiagnosed. Here, we identify biallelic NAA60 variants in ten individuals from seven families with autosomal recessive PFBC. The NAA60 variants lead to loss-of-function with lack of protein N-terminal (Nt)-acetylation activity. We show that the phosphate importer SLC20A2 is a substrate of NAA60 in vitro. In cells, loss of NAA60 caused reduced surface levels of SLC20A2 and a reduction in extracellular phosphate uptake. This study establishes NAA60 as a causal gene for PFBC, provides a possible biochemical explanation of its disease-causing mechanisms and underscores NAA60-mediated Nt-acetylation of transmembrane proteins as a fundamental process for healthy neurobiological functioning.
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- 2024
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10. Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants
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Mohammadi, Nazanin Azarinejad, Ahring, Philip Kiær, Yu Liao, Vivian Wan, Chua, Han Chow, Ortiz de la Rosa, Sebastián, Johannesen, Katrine Marie, Michaeli-Yossef, Yael, Vincent-Devulder, Aline, Meridda, Catherine, Bruel, Ange-Line, Rossi, Alessandra, Patel, Chirag, Klepper, Joerg, Bonanni, Paolo, Minghetti, Sara, Trivisano, Marina, Specchio, Nicola, Amor, David, Auvin, Stéphane, Baer, Sarah, Meyer, Pierre, Milh, Mathieu, Salpietro, Vincenzo, Maroofian, Reza, Lemke, Johannes R., Weckhuysen, Sarah, Christophersen, Palle, Rubboli, Guido, Chebib, Mary, Jensen, Anders A., Absalom, Nathan L., and Møller, Rikke Steensbjerre
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- 2024
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11. Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation
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Andrea Accogli, Saurabh Shakya, Taewoo Yang, Christine Insinna, Soo Yeon Kim, David Bell, Kirill R. Butov, Mariasavina Severino, Marcello Niceta, Marcello Scala, Hyun Sik Lee, Taekyeong Yoo, Jimmy Stauffer, Huijie Zhao, Chiara Fiorillo, Marina Pedemonte, Maria C. Diana, Simona Baldassari, Viktoria Zakharova, Anna Shcherbina, Yulia Rodina, Christina Fagerberg, Laura Sønderberg Roos, Jolanta Wierzba, Artur Dobosz, Amanda Gerard, Lorraine Potocki, Jill A. Rosenfeld, Seema R. Lalani, Tiana M. Scott, Daryl Scott, Mahshid S. Azamian, Raymond Louie, Hannah W. Moore, Neena L. Champaigne, Grace Hollingsworth, Annalaura Torella, Vincenzo Nigro, Rafal Ploski, Vincenzo Salpietro, Federico Zara, Simone Pizzi, Giovanni Chillemi, Marzia Ognibene, Erin Cooney, Jenny Do, Anders Linnemann, Martin J. Larsen, Suzanne Specht, Kylie J. Walters, Hee-Jung Choi, Murim Choi, Marco Tartaglia, Phillippe Youkharibache, Jong-Hee Chae, Valeria Capra, Sung-Gyoo Park, and Christopher J. Westlake
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Science - Abstract
Abstract WDR44 prevents ciliogenesis initiation by regulating RAB11-dependent vesicle trafficking. Here, we describe male patients with missense and nonsense variants within the WD40 repeats (WDR) of WDR44, an X-linked gene product, who display ciliopathy-related developmental phenotypes that we can model in zebrafish. The patient phenotypic spectrum includes developmental delay/intellectual disability, hypotonia, distinct craniofacial features and variable presence of brain, renal, cardiac and musculoskeletal abnormalities. We demonstrate that WDR44 variants associated with more severe disease impair ciliogenesis initiation and ciliary signaling. Because WDR44 negatively regulates ciliogenesis, it was surprising that pathogenic missense variants showed reduced abundance, which we link to misfolding of WDR autonomous repeats and degradation by the proteasome. We discover that disease severity correlates with increased RAB11 binding, which we propose drives ciliogenesis initiation dysregulation. Finally, we discover interdomain interactions between the WDR and NH2-terminal region that contains the RAB11 binding domain (RBD) and show patient variants disrupt this association. This study provides new insights into WDR44 WDR structure and characterizes a new syndrome that could result from impaired ciliogenesis.
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- 2024
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12. BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients
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Engel, Camille, Valence, Stéphanie, Delplancq, Geoffroy, Maroofian, Reza, Accogli, Andrea, Agolini, Emanuele, Alkuraya, Fowzan S., Baglioni, Valentina, Bagnasco, Irene, Becmeur-Lefebvre, Mathilde, Bertini, Enrico, Borggraefe, Ingo, Brischoux-Boucher, Elise, Bruel, Ange-Line, Brusco, Alfredo, Bubshait, Dalal K., Cabrol, Christelle, Cilio, Maria Roberta, Cornet, Marie-Coralie, Coubes, Christine, Danhaive, Olivier, Delague, Valérie, Denommé-Pichon, Anne-Sophie, Di Giacomo, Marilena Carmela, Doco-Fenzy, Martine, Engels, Hartmut, Cremer, Kirsten, Gérard, Marion, Gleeson, Joseph G., Heron, Delphine, Goffeney, Joanna, Guimier, Anne, Harms, Frederike L., Houlden, Henry, Iacomino, Michele, Kaiyrzhanov, Rauan, Kamien, Benjamin, Karimiani, Ehsan Ghayoor, Kraus, Dror, Kuentz, Paul, Kutsche, Kerstin, Lederer, Damien, Massingham, Lauren, Mignot, Cyril, Morris-Rosendahl, Déborah, Nagarajan, Lakshmi, Odent, Sylvie, Ormières, Clothilde, Partlow, Jennifer Neil, Pasquier, Laurent, Penney, Lynette, Philippe, Christophe, Piccolo, Gianluca, Poulton, Cathryn, Putoux, Audrey, Rio, Marlène, Rougeot, Christelle, Salpietro, Vincenzo, Scheffer, Ingrid, Schneider, Amy, Srivastava, Siddharth, Straussberg, Rachel, Striano, Pasquale, Valente, Enza Maria, Venot, Perrine, Villard, Laurent, Vitobello, Antonio, Wagner, Johanna, Wagner, Matias, Zaki, Maha S., Zara, Federizo, Lesca, Gaetan, Yassaee, Vahid Reza, Miryounesi, Mohammad, Hashemi-Gorji, Farzad, Beiraghi, Mehran, Ashrafzadeh, Farah, Galehdari, Hamid, Walsh, Christopher, Novelli, Antonio, Tacke, Moritz, Sadykova, Dinara, Maidyrov, Yerdan, Koneev, Kairgali, Shashkin, Chingiz, Capra, Valeria, Zamani, Mina, Van Maldergem, Lionel, Burglen, Lydie, and Piard, Juliette
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- 2023
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13. De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features
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Burrage, Lindsay C., Heaney, Jason D., Kim, Seon-Young, Lanza, Denise G., Liu, Zhandong, Mao, Dongxue, Milosavljevic, Aleksander, Nagamani, Sandesh C.S., Posey, Jennifer E., Ramamurthy, Uma, Ramanathan, Vivek, Rogers, Jeffrey, Rosenfeld, Jill A., Roth, Matthew, Zahedi Darshoori, Ramin, Pan, Xueyang, Tao, Alice M., Lu, Shenzhao, Ma, Mengqi, Hannan, Shabab B., Slaugh, Rachel, Drewes Williams, Sarah, O'Grady, Lauren, Kanca, Oguz, Person, Richard, Carter, Melissa T., Platzer, Konrad, Schnabel, Franziska, Abou Jamra, Rami, Roberts, Amy E., Newburger, Jane W., Revah-Politi, Anya, Granadillo, Jorge L., Stegmann, Alexander P.A., Sinnema, Margje, Accogli, Andrea, Salpietro, Vincenzo, Capra, Valeria, Ghaloul-Gonzalez, Lina, Brueckner, Martina, Simon, Marleen E.H., Sweetser, David A., Glinton, Kevin E., Kirk, Susan E., Wangler, Michael F., Yamamoto, Shinya, Chung, Wendy K., and Bellen, Hugo J.
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- 2024
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14. De novo variants in DENND5B cause a neurodevelopmental disorder
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Acosta, Maria T., Adams, David R., Alvarez, Raquel L., Alvey, Justin, Allworth, Aimee, Andrews, Ashley, Ashley, Euan A., Afzali, Ben, Bacino, Carlos A., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bellen, Hugo J., Bennett, Jimmy, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Briere, Lauren C., Brown, Gabrielle, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Cassini, Thomas, Chang, Ta Chen Peter, Chanprasert, Sirisak, Chao, HsiaoTuan, Chinn, Ivan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Colley, Heather A., Cope, Heidi, Corona, Rosario, Craigen, William J., Crouse, Andrew B., Cunningham, Michael, D’Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Dayal, Jyoti G., Delgado, Margaret, Dell'Angelica, Esteban C., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Falk, Marni, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Fu, Jiayu, Gahl, William A., Glass, Ian, Goddard, Page C., Godfrey, Rena A., Grajewski, Alana, Gropman, Andrea, Halley, Meghan C., Hamid, Rizwan, Hanchard, Neal, Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Huang, Yan, Hutchison, Sarah, Introne, Wendy, Isasi, Rosario, Izumi, Kosuke, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Jean-Marie, Orpa, Jobanputra, Vaidehi, Kaitryn, Emerald, Ketkar, Shamika, Kiley, Dana, Kilich, Gonench, Kobren, Shilpa N., Kohane, Isaac S., Kohler, Jennefer N., Korrick, Susan, Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Lalani, Seema R., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., LeBlanc, Kimberly, Lee, Brendan H., Levitt, Roy, Lewis, Richard A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Maghiro, AudreyStephannie, Mahoney, Rachel, Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Mao, Rong, Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McConkie-Rosell, Allyn, McCray, Alexa T., McGee, Elisabeth, Might, Matthew, Miller, Danny, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo, Morimoto, Marie, Mulvihill, John J., Nakano-Okuno, Mariko, Nelson, Stanley F., Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Papp, Jeanette C., Parker, Neil H., Petcharet, Leoyklang, Phillips, John A., III, Posey, Jennifer E., Potocki, Lorraine, Swerdzewski, Barbara N. Pusey, Quinlan, Aaron, Rao, Deepak A., Raper, Anna, Raskind, Wendy, Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rosenthal, Elizabeth, Rossignol, Francis, Ruzhnikov, Maura, Sabaii, Marla, Sacco, Ralph, Sampson, Jacinda B., Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Scott, Daryl A., Seto, Elaine, Sharma, Prashant, Shashi, Vandana, Shelkowitz, Emily, Sheppeard, Sam, Shin, Jimann, Silverman, Edwin K., Sinsheimer, Janet S., Sisco, Kathy, Smith, Edward C., Smith, Kevin S., Solnica-Krezel, Lilianna, Solomon, Ben, Spillmann, Rebecca C., Stergachis, Andrew, Stoler, Joan M., Sullivan, Kathleen, Sullivan, Jennifer A., Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tan, Queenie K.-G., Tan, Amelia L.M., Tarakad, Arjun, Taylor, Herman, Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Ungar, Rachel A., Urv, Tiina K., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Walker, Melissa, Walley, Nicole M., Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Weisz Hubshman, Monika, Wener, Mark, Wenger, Tara, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Worley, Kim, Yamamoto, Shinya, Zhang, Zhe, Zuchner, Stephan, Scala, Marcello, Tomati, Valeria, Ferla, Matteo, Lena, Mariateresa, Cohen, Julie S., Fatemi, Ali, Brokamp, Elly, Koziura, Mary E., Nicouleau, Michael, Rio, Marlene, Siquier, Karine, Boddaert, Nathalie, Musante, Ilaria, Tamburro, Serena, Baldassari, Simona, Iacomino, Michele, Scudieri, Paolo, Bellus, Gary, Reed, Sara, Al Saif, Hind, Russo, Rossana Sanchez, Walsh, Matthew B., Cantagrel, Vincent, Crunk, Amy, Gustincich, Stefano, Ruggiero, Sarah M., Fitzgerald, Mark P., Helbig, Ingo, Striano, Pasquale, Severino, Mariasavina, Salpietro, Vincenzo, Pedemonte, Nicoletta, and Zara, Federico
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- 2024
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15. Endocrine features of Prader-Willi syndrome: a narrative review focusing on genotype-phenotype correlation
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Simona F. Madeo, Luca Zagaroli, Sara Vandelli, Valeria Calcaterra, Antonino Crinò, Luisa De Sanctis, Maria Felicia Faienza, Danilo Fintini, Laura Guazzarotti, Maria Rosaria Licenziati, Enza Mozzillo, Roberta Pajno, Emanuela Scarano, Maria E. Street, Malgorzata Wasniewska, Sarah Bocchini, Carmen Bucolo, Raffaele Buganza, Mariangela Chiarito, Domenico Corica, Francesca Di Candia, Roberta Francavilla, Nadia Fratangeli, Nicola Improda, Letteria A. Morabito, Chiara Mozzato, Virginia Rossi, Concetta Schiavariello, Giovanni Farello, Lorenzo Iughetti, Vincenzo Salpietro, Alessandro Salvatoni, Mara Giordano, Graziano Grugni, and Maurizio Delvecchio
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Prader-Willi syndrome (PWS) ,genotype-phenotype correlation ,growth hormone (GH) ,metabolic syndrome ,hypogonadism ,bone metabolism ,Diseases of the endocrine glands. Clinical endocrinology ,RC648-665 - Abstract
Prader-Willi syndrome (PWS) is a complex genetic disorder caused by three different types of molecular genetic abnormalities. The most common defect is a deletion on the paternal 15q11-q13 chromosome, which is seen in about 60% of individuals. The next most common abnormality is maternal disomy 15, found in around 35% of cases, and a defect in the imprinting center that controls the activity of certain genes on chromosome 15, seen in 1-3% of cases. Individuals with PWS typically experience issues with the hypothalamic-pituitary axis, leading to excessive hunger (hyperphagia), severe obesity, various endocrine disorders, and intellectual disability. Differences in physical and behavioral characteristics between patients with PWS due to deletion versus those with maternal disomy are discussed in literature. Patients with maternal disomy tend to have more frequent neurodevelopmental problems, such as autistic traits and behavioral issues, and generally have higher IQ levels compared to those with deletion of the critical PWS region. This has led us to review the pertinent literature to investigate the possibility of establishing connections between the genetic abnormalities and the endocrine disorders experienced by PWS patients, in order to develop more targeted diagnostic and treatment protocols. In this review, we will review the current state of clinical studies focusing on endocrine disorders in individuals with PWS patients, with a specific focus on the various genetic causes. We will look at topics such as neonatal anthropometry, thyroid issues, adrenal problems, hypogonadism, bone metabolism abnormalities, metabolic syndrome resulting from severe obesity caused by hyperphagia, deficiencies in the GH/IGF-1 axis, and the corresponding responses to treatment.
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- 2024
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16. Human mutations in SLITRK3 implicated in GABAergic synapse development in mice
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Stephanie Efthymiou, Wenyan Han, Muhammad Ilyas, Jun Li, Yichao Yu, Marcello Scala, Nancy T. Malintan, Nikoleta Vavouraki, Kshitij Mankad, Reza Maroofian, Clarissa Rocca, Vincenzo Salpietro, Shenela Lakhani, Eric J. Mallack, Timothy Blake Palculict, Hong Li, Guojun Zhang, Faisal Zafar, Nuzhat Rana, Noriko Takashima, Hayato Matsunaga, Claudia Manzoni, Pasquale Striano, Mark F. Lythgoe, Jun Aruga, Wei Lu, and Henry Houlden
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SLITRK3 ,GABAergic synapse development ,epilepsy ,global developmental delay ,inhibitory synaptic transmission ,NGS - next generation sequencing ,Neurosciences. Biological psychiatry. Neuropsychiatry ,RC321-571 - Abstract
This study reports on biallelic homozygous and monoallelic de novo variants in SLITRK3 in three unrelated families presenting with epileptic encephalopathy associated with a broad neurological involvement characterized by microcephaly, intellectual disability, seizures, and global developmental delay. SLITRK3 encodes for a transmembrane protein that is involved in controlling neurite outgrowth and inhibitory synapse development and that has an important role in brain function and neurological diseases. Using primary cultures of hippocampal neurons carrying patients’ SLITRK3 variants and in combination with electrophysiology, we demonstrate that recessive variants are loss-of-function alleles. Immunostaining experiments in HEK-293 cells showed that human variants C566R and E606X change SLITRK3 protein expression patterns on the cell surface, resulting in highly accumulating defective proteins in the Golgi apparatus. By analyzing the development and phenotype of SLITRK3 KO (SLITRK3–/–) mice, the study shows evidence of enhanced susceptibility to pentylenetetrazole-induced seizure with the appearance of spontaneous epileptiform EEG as well as developmental deficits such as higher motor activities and reduced parvalbumin interneurons. Taken together, the results exhibit impaired development of the peripheral and central nervous system and support a conserved role of this transmembrane protein in neurological function. The study delineates an emerging spectrum of human core synaptopathies caused by variants in genes that encode SLITRK proteins and essential regulatory components of the synaptic machinery. The hallmark of these disorders is impaired postsynaptic neurotransmission at nerve terminals; an impaired neurotransmission resulting in a wide array of (often overlapping) clinical features, including neurodevelopmental impairment, weakness, seizures, and abnormal movements. The genetic synaptopathy caused by SLITRK3 mutations highlights the key roles of this gene in human brain development and function.
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- 2024
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17. Corrigendum: Neuroimaging in PRUNE1 syndrome: a mini-review of the literature
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Giovanna Scorrano, Laura Battaglia, Rossana Spiaggia, Antonio Basile, Stefano Palmucci, Pietro Valerio Foti, Emanuele David, Franco Marinangeli, Ilaria Mascilini, Antonio Corsello, Francesco Comisi, Alessandro Vittori, and Vincenzo Salpietro
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PRUNE1 ,neurodevelopmental disorder ,enzymatic activity ,neurogenesis ,delayed myelination ,Neurology. Diseases of the nervous system ,RC346-429 - Published
- 2024
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18. Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders
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Gracia-Diaz, Carolina, Zhou, Yijing, Yang, Qian, Maroofian, Reza, Espana-Bonilla, Paula, Lee, Chul-Hwan, Zhang, Shuo, Padilla, Natàlia, Fueyo, Raquel, Waxman, Elisa A., Lei, Sunyimeng, Otrimski, Garrett, Li, Dong, Sheppard, Sarah E., Mark, Paul, Harr, Margaret H., Hakonarson, Hakon, Rodan, Lance, Jackson, Adam, Vasudevan, Pradeep, Powel, Corrina, Mohammed, Shehla, Maddirevula, Sateesh, Alzaidan, Hamad, Faqeih, Eissa A., Efthymiou, Stephanie, Turchetti, Valentina, Rahman, Fatima, Maqbool, Shazia, Salpietro, Vincenzo, Ibrahim, Shahnaz H., di Rosa, Gabriella, Houlden, Henry, Alharbi, Maha Nasser, Al-Sannaa, Nouriya Abbas, Bauer, Peter, Zifarelli, Giovanni, Estaras, Conchi, Hurst, Anna C. E., Thompson, Michelle L., Chassevent, Anna, Smith-Hicks, Constance L., de la Cruz, Xavier, Holtz, Alexander M., Elloumi, Houda Zghal, Hajianpour, M J, Rieubland, Claudine, Braun, Dominique, Banka, Siddharth, French, Deborah L., Heller, Elizabeth A., Saade, Murielle, Song, Hongjun, Ming, Guo-li, Alkuraya, Fowzan S., Agrawal, Pankaj B., Reinberg, Danny, Bhoj, Elizabeth J., Martínez-Balbás, Marian A., and Akizu, Naiara
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- 2023
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19. Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders
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Carolina Gracia-Diaz, Yijing Zhou, Qian Yang, Reza Maroofian, Paula Espana-Bonilla, Chul-Hwan Lee, Shuo Zhang, Natàlia Padilla, Raquel Fueyo, Elisa A. Waxman, Sunyimeng Lei, Garrett Otrimski, Dong Li, Sarah E. Sheppard, Paul Mark, Margaret H. Harr, Hakon Hakonarson, Lance Rodan, Adam Jackson, Pradeep Vasudevan, Corrina Powel, Shehla Mohammed, Sateesh Maddirevula, Hamad Alzaidan, Eissa A. Faqeih, Stephanie Efthymiou, Valentina Turchetti, Fatima Rahman, Shazia Maqbool, Vincenzo Salpietro, Shahnaz H. Ibrahim, Gabriella di Rosa, Henry Houlden, Maha Nasser Alharbi, Nouriya Abbas Al-Sannaa, Peter Bauer, Giovanni Zifarelli, Conchi Estaras, Anna C. E. Hurst, Michelle L. Thompson, Anna Chassevent, Constance L. Smith-Hicks, Xavier de la Cruz, Alexander M. Holtz, Houda Zghal Elloumi, M J Hajianpour, Claudine Rieubland, Dominique Braun, Siddharth Banka, Genomic England Research Consortium, Deborah L. French, Elizabeth A. Heller, Murielle Saade, Hongjun Song, Guo-li Ming, Fowzan S. Alkuraya, Pankaj B. Agrawal, Danny Reinberg, Elizabeth J. Bhoj, Marian A. Martínez-Balbás, and Naiara Akizu
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Science - Abstract
Abstract Genetic variants in chromatin regulators are frequently found in neurodevelopmental disorders, but their effect in disease etiology is rarely determined. Here, we uncover and functionally define pathogenic variants in the chromatin modifier EZH1 as the cause of dominant and recessive neurodevelopmental disorders in 19 individuals. EZH1 encodes one of the two alternative histone H3 lysine 27 methyltransferases of the PRC2 complex. Unlike the other PRC2 subunits, which are involved in cancers and developmental syndromes, the implication of EZH1 in human development and disease is largely unknown. Using cellular and biochemical studies, we demonstrate that recessive variants impair EZH1 expression causing loss of function effects, while dominant variants are missense mutations that affect evolutionarily conserved aminoacids, likely impacting EZH1 structure or function. Accordingly, we found increased methyltransferase activity leading to gain of function of two EZH1 missense variants. Furthermore, we show that EZH1 is necessary and sufficient for differentiation of neural progenitor cells in the developing chick embryo neural tube. Finally, using human pluripotent stem cell-derived neural cultures and forebrain organoids, we demonstrate that EZH1 variants perturb cortical neuron differentiation. Overall, our work reveals a critical role of EZH1 in neurogenesis regulation and provides molecular diagnosis for previously undefined neurodevelopmental disorders.
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- 2023
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20. A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in Children
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Scorrano, Giovanna, D'Onofrio, Gianluca, Accogli, Andrea, Severino, Mariasavina, Buchert, Rebecca, Kotzaeridou, Urania, Iapadre, Giulia, Farello, Giovanni, Iacomino, Michele, Dono, Fedele, Di Francesco, Ludovica, Fiorile, Maria Francesca, La Bella, Saverio, Corsello, Antonio, Calì, Elisa, Di Rosa, Gabriella, Gitto, Eloisa, Verrotti, Alberto, Fortuna, Sara, Soler, Miguel A., Chiarelli, Francesco, Oehl-Jaschkowitz, Barbara, Haack, Tobias B., Zara, Federico, Striano, Pasquale, and Salpietro, Vincenzo
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- 2023
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21. Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals
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Bosch, Elisabeth, Popp, Bernt, Güse, Esther, Skinner, Cindy, van der Sluijs, Pleuntje J., Maystadt, Isabelle, Pinto, Anna Maria, Renieri, Alessandra, Bruno, Lucia Pia, Granata, Stefania, Marcelis, Carlo, Baysal, Özlem, Hartwich, Dewi, Holthöfer, Laura, Isidor, Bertrand, Cogne, Benjamin, Wieczorek, Dagmar, Capra, Valeria, Scala, Marcello, De Marco, Patrizia, Ognibene, Marzia, Jamra, Rami Abou, Platzer, Konrad, Carter, Lauren B., Kuismin, Outi, van Haeringen, Arie, Maroofian, Reza, Valenzuela, Irene, Cuscó, Ivon, Martinez-Agosto, Julian A., Rabani, Ahna M., Mefford, Heather C., Pereira, Elaine M., Close, Charlotte, Anyane-Yeboa, Kwame, Wagner, Mallory, Hannibal, Mark C., Zacher, Pia, Thiffault, Isabelle, Beunders, Gea, Umair, Muhammad, Bhola, Priya T., McGinnis, Erin, Millichap, John, van de Kamp, Jiddeke M., Prijoles, Eloise J., Dobson, Amy, Shillington, Amelle, Graham, Brett H., Garcia, Evan-Jacob, Galindo, Maureen Kelly, Ropers, Fabienne G., Nibbeling, Esther A.R., Hubbard, Gail, Karimov, Catherine, Goj, Guido, Bend, Renee, Rath, Julie, Morrow, Michelle M., Millan, Francisca, Salpietro, Vincenzo, Torella, Annalaura, Nigro, Vincenzo, Kurki, Mitja, Stevenson, Roger E., Santen, Gijs W.E., Zweier, Markus, Campeau, Philippe M., Severino, Mariasavina, Reis, André, Accogli, Andrea, and Vasileiou, Georgia
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- 2023
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22. Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder
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Accogli, Andrea, Lin, Sheng-Jia, Severino, Mariasavina, Kim, Sung-Hoon, Huang, Kevin, Rocca, Clarissa, Landsverk, Megan, Zaki, Maha S., Al-Maawali, Almundher, Srinivasan, Varunvenkat M., Al-Thihli, Khalid, Schaefer, G. Bradly, Davis, Monica, Tonduti, Davide, Doneda, Chiara, Marten, Lara M., Mühlhausen, Chris, Gomez, Maria, Lamantea, Eleonora, Mena, Rafael, Nizon, Mathilde, Procaccio, Vincent, Begtrup, Amber, Telegrafi, Aida, Cui, Hong, Schulz, Heidi L., Mohr, Julia, Biskup, Saskia, Loos, Mariana Amina, Aráoz, Hilda Verónica, Salpietro, Vincenzo, Keppen, Laura Davis, Chitre, Manali, Petree, Cassidy, Raymond, Lucy, Vogt, Julie, Sawyer, Lindsey B., Basinger, Alice A., Pedersen, Signe Vandal, Pearson, Toni S., Grange, Dorothy K., Lingappa, Lokesh, McDunnah, Paige, Horvath, Rita, Cognè, Benjamin, Isidor, Bertrand, Hahn, Andreas, Gripp, Karen W., Jafarnejad, Seyed Mehdi, Østergaard, Elsebet, Prada, Carlos E., Ghezzi, Daniele, Gowda, Vykuntaraju K., Taylor, Robert W., Sonenberg, Nahum, Houlden, Henry, Sissler, Marie, Varshney, Gaurav K., and Maroofian, Reza
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- 2023
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23. Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development
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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, and Salpietro, Vincenzo
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- 2023
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24. P678: Biallelic variants in BECN1 are associated with a complex neurodevelopmental syndrome
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Farid Ullah, Vincenzo Salpietro, Meghan Coghlan, Abhineet Sharma, Angelique Mercier, Anne McRae, Henry Houlden, and Erica Davis
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Genetics ,QH426-470 ,Medicine - Published
- 2024
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25. Neuroimaging features of WOREE syndrome: a mini-review of the literature
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Laura Battaglia, Giovanna Scorrano, Rossana Spiaggia, Antonio Basile, Stefano Palmucci, Pietro Valerio Foti, Corrado Spatola, Michele Iacomino, Franco Marinangeli, Elisa Francia, Francesco Comisi, Antonio Corsello, Vincenzo Salpietro, Alessandro Vittori, and Emanuele David
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WWOX ,developmental and epileptic encephalopathies (DEEs) ,WOREE syndrome ,SDR domain ,brain anomalies ,Pediatrics ,RJ1-570 - Abstract
The WWOX gene encodes a 414-amino-acid protein composed of two N-terminal WW domains and a C-terminal short-chain dehydrogenase/reductase (SDR) domain. WWOX protein is highly conserved among species and mainly expressed in the cerebellum, cerebral cortex, brain stem, thyroid, hypophysis, and reproductive organs. It plays a crucial role in the biology of the central nervous system, and it is involved in neuronal development, migration, and proliferation. Biallelic pathogenic variants in WWOX have been associated with an early infantile epileptic encephalopathy known as WOREE syndrome. Both missense and null variants have been described in affected patients, leading to a reduction in protein function and stability. The most severe WOREE phenotypes have been related to biallelic null/null variants, associated with the complete loss of function of the protein. All affected patients showed brain anomalies on magnetic resonance imaging (MRI), suggesting the pivotal role of WWOX protein in brain homeostasis and developmental processes. We provided a literature review, exploring both the clinical and radiological spectrum related to WWOX pathogenic variants, described to date. We focused on neuroradiological findings to better delineate the WOREE phenotype with diagnostic and prognostic implications.
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- 2023
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26. Neuroimaging in PRUNE1 syndrome: a mini-review of the literature
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Giovanna Scorrano, Laura Battaglia, Rossana Spiaggia, Antonio Basile, Stefano Palmucci, Pietro Valerio Foti, Emanuele David, Franco Marinangeli, Ilaria Mascilini, Antonio Corsello, Francesco Comisi, Alessandro Vittori, and Vincenzo Salpietro
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PRUNE1 ,neurodevelopmental disorder ,enzymatic activity ,neurogenesis ,delayed myelination ,Neurology. Diseases of the nervous system ,RC346-429 - Abstract
Prune exopolyphosphatase 1 (PRUNE1) is a short-chain phosphatase that is part of the aspartic acid-histidine-histidine (DHH) family of proteins. PRUNE1 is highly expressed in the central nervous system and is crucially involved in neurodevelopment, cytoskeletal rearrangement, cell migration, and proliferation. Recently, biallelic PRUNE1 variants have been identified in patients with neurodevelopmental disorders, hypotonia, microcephaly, variable cerebral anomalies, and other features. PRUNE1 hypomorphic mutations mainly affect the DHH1 domain, leading to an impactful decrease in enzymatic activity with a loss-of-function mechanism. In this review, we explored both the clinical and radiological spectrum related to PRUNE1 pathogenic variants described to date. Specifically, we focused on neuroradiological findings that, together with clinical phenotypes and genetic data, allow us to best characterize affected children with diagnostic and potential prognostic implications.
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- 2023
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27. 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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Giuseppina Brancaccio, Barbara Coco, Alessandra Nardi, Maria Giovanna Quaranta, Maria Elena Tosti, Luigina Ferrigno, Irene Cacciola, Vincenzo Messina, Luchino Chessa, Filomena Morisco, Michele Milella, Francesco Barbaro, Alessia Ciancio, Francesco Paolo Russo, Nicola Coppola, Pierluigi Blanc, Ernesto Claar, Gabriella Verucchi, Massimo Puoti, Anna Linda Zignego, Liliana Chemello, Salvatore Madonia, Stefano Fagiuoli, Alfredo Marzano, Carlo Ferrari, Pietro Lampertico, Vito Di Marco, Antonio Craxì, Teresa Antonia Santantonio, Giovanni Raimondo, Maurizia R. Brunetto, Giovanni Battista Gaeta, Loreta A. Kondili, Luisa Pasulo, Carmine Coppola, Federica Pisano, Mariarosaria Romano, Carmen Porcu, Irene Francesca Bottalico, Valentina Cossiga, Xhimi Tata, Caterina Sagnelli, Piera Pierotti, Elisabetta Degasperi, Valerio Rosato, Lorenzo Badia, Dontella Ieluzzi, Monica Monti, Maria Grazia Bavetta, Luisa Cavalletto, Pierluigi Toniutto, Ezio Fornasiere, Antonio Colecchia, Alberto Ferrarese, Gerardo Nardone, Alba Rocco, Mauro Viganò, Francesco Giuseppe Foschi, Fabio Conti, Giulia Morsica, Stefania Salpietro, Carlo Torti, Chiara Costa, Alessandro Federico, Marcello Dallio, Alessia Giorgini, Marco Anselmo, Pasqualina De Leo, Serena Zaltron, Anna Cambianica, Fabio Piscaglia, Ilaria Serio, Simona Schivazappa, Antonio Mastroianni, Luciana Chidichimo, Marco Massari, Cesare Mazzaro, Aldo Marrone, Francesca Maria D'Amore, Gianpiero D'Offizi, Anna Licata, Grazia Anna Niro, Teresa Pollicino, and Alessio Aghemo
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Hepatitis B ,Chronic ,Hepatitis Delta ,Epidemiology ,Migrants ,Hepatitis control ,Infectious and parasitic diseases ,RC109-216 - Abstract
Objectives: The study measures trends in the profile of patients with chronic hepatitis B virus linked to care in Italy. Methods: A cross-sectional, multicenter, observational cohort (PITER cohort) of consecutive patients with hepatitis B surface antigen (HBsAg) over the period 2019-2021 from 46 centers was evaluated. The reference was the MASTER cohort collected over the years 2012-2015. Standard statistical methods were used. Results: The PITER cohort enrolled 4583 patients, of whom 21.8% were non-Italian natives. Compared with those in MASTER, the patients were older and more often female. The prevalence of hepatitis B e antigen (HBeAg) declined (7.2% vs 12.3; P
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- 2023
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28. Remedial Interventions to Address Receptivity to Feedback in Master's-Level Counseling Students
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Salpietro, Lena, Clark, Madeline, Kress, Victoria, Laux, John, and Walker, Tanesha
- Abstract
Remediation is an essential gatekeeping responsibility, yet counselor education lacks consensus on the best way to approach student remediation. We used Q methodology to explore the remediation practices of 28 counselor educators employed full-time in accredited university programs. Four factors emerged: Due Process, Reflective Practice, Remedial Coursework, and Preserve Programmatic Status.
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- 2021
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29. 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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Pasulo, Luisa, Coppola, Carmine, Pisano, Federica, Romano, Mariarosaria, Porcu, Carmen, Bottalico, Irene Francesca, Cossiga, Valentina, Tata, Xhimi, Sagnelli, Caterina, Pierotti, Piera, Degasperi, Elisabetta, Rosato, Valerio, Badia, Lorenzo, Ieluzzi, Dontella, Monti, Monica, Bavetta, Maria Grazia, Cavalletto, Luisa, Toniutto, Pierluigi, Fornasiere, Ezio, Colecchia, Antonio, Ferrarese, Alberto, Nardone, Gerardo, Rocco, Alba, Viganò, Mauro, Foschi, Francesco Giuseppe, Conti, Fabio, Morsica, Giulia, Salpietro, Stefania, Torti, Carlo, Costa, Chiara, Federico, Alessandro, Dallio, Marcello, Giorgini, Alessia, Anselmo, Marco, De Leo, Pasqualina, Zaltron, Serena, Cambianica, Anna, Piscaglia, Fabio, Serio, Ilaria, Schivazappa, Simona, Mastroianni, Antonio, Chidichimo, Luciana, Massari, Marco, Mazzaro, Cesare, Marrone, Aldo, D'Amore, Francesca Maria, D'Offizi, Gianpiero, Licata, Anna, Niro, Grazia Anna, Pollicino, Teresa, Aghemo, Alessio, Brancaccio, Giuseppina, Coco, Barbara, Nardi, Alessandra, Quaranta, Maria Giovanna, Tosti, Maria Elena, Ferrigno, Luigina, Cacciola, Irene, Messina, Vincenzo, Chessa, Luchino, Morisco, Filomena, Milella, Michele, Barbaro, Francesco, Ciancio, Alessia, Russo, Francesco Paolo, Coppola, Nicola, Blanc, Pierluigi, Claar, Ernesto, Verucchi, Gabriella, Puoti, Massimo, Zignego, Anna Linda, Chemello, Liliana, Madonia, Salvatore, Fagiuoli, Stefano, Marzano, Alfredo, Ferrari, Carlo, Lampertico, Pietro, Di Marco, Vito, Craxì, Antonio, Santantonio, Teresa Antonia, Raimondo, Giovanni, Brunetto, Maurizia R., Gaeta, Giovanni Battista, and Kondili, Loreta A.
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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, Santa Paola, Sandro, Lo Giudice, Mariangela, Di Blasi, Francesco Domenico, Giusto, Stefania, Di Vita, Giuseppa, Pettinato, Rosa, Vitello, Girolamo Aurelio, Romano, Corrado, Buono, Serafino, Salpietro, Vincenzo, Houlden, Henry, and Borgione, Eugenia
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- 2023
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31. Modelling the impact of protein-kinase R allelic variant on HIV biomarkers trajectories by means of latent class mixed models
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Chiara Brombin, Sabrina Bagaglio, Federica Cugnata, Antonella Castagna, Caterina Uberti-Foppa, Stefania Salpietro, Clelia Di Serio, and Giulia Morsica
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Medicine ,Science - Abstract
Abstract This paper is based on a retrospective longitudinal study on people living with HIV under antiretroviral treatment (ART) where allelic variants (either heterozygous CT genotype or homozygous CC genotype) have been evaluated at position −168 of the promoter region of the protein kinase R (−168/PKR). In general, antiviral effects of interferon are partially mediated by a RNA-dependent protein kinase (PKR) that, once activated, inhibits protein synthesis. Indeed, activation of PKR response can inhibit HIV replication. To explore the role of allelic variants in shaping dynamics of commonly monitored HIV biomarkers, CD4 cells, CD8 cells and HIV-load were modelled within a latent class mixed model (LCMM) to account for participants’ heterogeneity over time. The estimated models identified two sub-groups from CD4 and HIV-load dynamics, revealing better outcomes for subgroups of participants with the heterozygous CT genotype. Heterozygous CT subjects in one of the two identified subgroups exhibited higher increase of CD4 cells and more marked decrease of HIV-load, over time, with respect to the homozygous CC subjects assigned to the same group.
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- 2022
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32. De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder
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Sleyp, Yoeri, Valenzuela, Irene, Accogli, Andrea, Ballon, Katleen, Ben-Zeev, Bruria, Berkovic, Samuel F., Broly, Martin, Callaerts, Patrick, Caylor, Raymond C., Charles, Perrine, Chatron, Nicolas, Cohen, Lior, Coppola, Antonietta, Cordeiro, Dawn, Cuccurullo, Claudia, Cuscó, Ivon, Janette diMonda, Duran-Romaña, Ramon, Ekhilevitch, Nina, Fernández-Alvarez, Paula, Gordon, Christopher T., Isidor, Bertrand, Keren, Boris, Lesca, Gaetan, Maljaars, Jarymke, Mercimek-Andrews, Saadet, Morrow, Michelle M., Muir, Alison M., Rousseau, Frederic, Salpietro, Vincenzo, Scheffer, Ingrid E., Schnur, Rhonda E., Schymkowitz, Joost, Souche, Erika, Steyaert, Jean, Stolerman, Elliot S., Vengoechea, Jaime, Ville, Dorothée, Washington, Camerun, Weiss, Karin, Zaid, Rinat, Sadleir, Lynette G., Mefford, Heather C., and Peeters, Hilde
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- 2022
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33. Hydranencephaly in CENPJ-related Seckel syndrome
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Cuccurullo, Claudia, Miele, Giuseppina, Piccolo, Gianluca, Bilo, Leonilda, Accogli, Andrea, D'Amico, Alessandra, Fratta, Mario, Guerrisi, Sara, Iacomino, Michele, Salpietro, Vincenzo, Ugga, Lorenzo, Striano, Pasquale, and Coppola, Antonietta
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- 2022
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34. Abnormal course of the corticospinal tracts in KIF5C-related encephalopathy
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Naim, Alessandro, Accogli, Andrea, Amadori, Elisabetta, D'Onofrio, Gianluca, Madia, Francesca, Tortora, Domenico, Zara, Federico, Striano, Pasquale, Salpietro, Vincenzo, and Severino, Mariasavina
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- 2022
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35. Brain and eye involvement in McCune-Albright Syndrome: clinical and translational insights
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Ilaria Mascioli, Giulia Iapadre, Diletta Ingrosso, Giulio Di Donato, Cosimo Giannini, Vincenzo Salpietro, Francesco Chiarelli, and Giovanni Farello
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McCune-Albright Syndrome ,fibrous dysplasia of bone ,brain ,eye ,GNAS ,Diseases of the endocrine glands. Clinical endocrinology ,RC648-665 - Abstract
McCune-Albright Syndrome (MAS) is a rare mosaic (post-zygotic) genetic disorder presenting with a broad continuum clinical spectrum. MAS arises from somatic, activating mutations in the GNAS gene, which induces a dysregulated Gsα-protein signaling in several tissues and an increased production of intracellular cyclic adenosine monophosphate (cAMP). Overall, MAS is a rare disorder affecting less than 1/100,000 children and, for this reason, data establishing genotype-phenotype correlations remain limited. Affected individuals clinically present with a variable combination of fibrous dysplasia of bone (FD), extra-skeletal manifestations (including cafeí-au-lait spots) and precocious puberty which might also be associated to broad hyperfunctioning endocrinopathies, and also gastrointestinal and cardiological involvement. Central nervous system (CNS) and eye involvement in MAS are among the less frequently described complications and remain largely uncharacterized. These rare complications mainly include neurodevelopmental abnormalities (e.g., delayed motor development, cognitive and language impairment), CNS anomalies (e.g., Chiari malformation type I) and a wide array of ophthalmological abnormalities often associated with vision loss. The pathophysiological mechanisms underlying abnormal neurological development have not been yet fully elucidated. The proposed mechanisms include a deleterious impact of chronically dysregulated Gsα-protein signaling on neurological function, or a secondary (damaging) effect of (antenatal and/or early postnatal) hypercortisolism on early pre- and post-natal CNS development. In this Review, we summarize the main neurological and ophthalmological features eventually associated with the MAS spectrum, also providing a detailed overview of the potential pathophysiological mechanisms underlying these clinical complications.
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- 2023
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36. 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, Mazel, Benoit, Lelianova, Vera G., Zangrandi, Alice, Petitto, Evelina, Suckling, Jason, Salpietro, Vincenzo, Meyer, Robert, Elbracht, Miriam, Kurth, Ingo, Eggermann, Thomas, Benlaouer, Ouafa, Lall, Gurprit, Tonevitsky, Alexander G., Scott, Daryl A., Chan, Katie M., Rosenfeld, Jill A., Nambot, Sophie, Safraou, Hana, Bruel, Ange-Line, Denommé-Pichon, Anne-Sophie, Tran Mau-Them, Frédéric, Philippe, Christophe, Duffourd, Yannis, Guo, Hui, Petersen, Andrea K., Granger, Leslie, Crunk, Amy, Bayat, Allan, Striano, Pasquale, Zara, Federico, Scala, Marcello, Thomas, Quentin, Delahaye, Andrée, de Sainte Agathe, Jean-Madeleine, Buratti, Julien, Kozlov, Serguei V., Faivre, Laurence, Thauvin-Robinet, Christel, and Ushkaryov, Yuri
- Published
- 2022
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37. Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders
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Paola Borgia, Simona Baldassari, Nicoletta Pedemonte, Ebba Alkhunaizi, Gianluca D’Onofrio, Domenico Tortora, Elisa Calì, Paolo Scudieri, Ganna Balagura, Ilaria Musante, Maria Cristina Diana, Marina Pedemonte, Maria Stella Vari, Michele Iacomino, Antonella Riva, Roberto Chimenz, Giuseppe D. Mangano, Mohammad Hasan Mohammadi, Mehran Beiraghi Toosi, Farah Ashrafzadeh, Shima Imannezhad, Ehsan Ghayoor Karimiani, Andrea Accogli, Maria Cristina Schiaffino, Mohamad Maghnie, Miguel Angel Soler, Karl Echiverri, Charles K. Abrams, Pasquale Striano, Sara Fortuna, Reza Maroofian, Henry Houlden, Federico Zara, Chiara Fiorillo, and Vincenzo Salpietro
- Subjects
Peroxisome biogenesis disorders ,Zellweger spectrum disorder ,PEX13 ,mitochondrial dysfunction ,Medicine - Abstract
Abstract Background Pathogenic variants in PEX-genes can affect peroxisome assembly and function and cause Zellweger spectrum disorders (ZSDs), characterized by variable phenotypes in terms of disease severity, age of onset and clinical presentations. So far, defects in at least 15 PEX-genes have been implicated in Mendelian diseases, but in some of the ultra-rare ZSD subtypes genotype–phenotype correlations and disease mechanisms remain elusive. Methods We report five families carrying biallelic variants in PEX13. The identified variants were initially evaluated by using a combination of computational approaches. Immunofluorescence and complementation studies on patient-derived fibroblasts were performed in two patients to investigate the cellular impact of the identified mutations. Results Three out of five families carried a recurrent p.Arg294Trp non-synonymous variant. Individuals affected with PEX13-related ZSD presented heterogeneous clinical features, including hypotonia, developmental regression, hearing/vision impairment, progressive spasticity and brain leukodystrophy. Computational predictions highlighted the involvement of the Arg294 residue in PEX13 homodimerization, and the analysis of blind docking predicted that the p.Arg294Trp variant alters the formation of dimers, impairing the stability of the PEX13/PEX14 translocation module. Studies on muscle tissues and patient-derived fibroblasts revealed biochemical alterations of mitochondrial function and identified mislocalized mitochondria and a reduced number of peroxisomes with abnormal PEX13 concentration. Conclusions This study expands the phenotypic and mutational spectrum of PEX13-related ZSDs and also highlight a variety of disease mechanisms contributing to PEX13-related clinical phenotypes, including the emerging contribution of secondary mitochondrial dysfunction to the pathophysiology of ZSDs.
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- 2022
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38. Recurrent missense variant in the nuclear export signal of FMR1 associated with FXS-like phenotype including intellectual disability, ASD, facial abnormalities
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Mangano, Giuseppe Donato, Fontana, Antonina, Salpietro, Vincenzo, Antona, Vincenzo, Mangano, Giuseppa Renata, and Nardello, Rosaria
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- 2022
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39. Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders
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Borgia, Paola, Baldassari, Simona, Pedemonte, Nicoletta, Alkhunaizi, Ebba, D’Onofrio, Gianluca, Tortora, Domenico, Calì, Elisa, Scudieri, Paolo, Balagura, Ganna, Musante, Ilaria, Diana, Maria Cristina, Pedemonte, Marina, Vari, Maria Stella, Iacomino, Michele, Riva, Antonella, Chimenz, Roberto, Mangano, Giuseppe D., Mohammadi, Mohammad Hasan, Toosi, Mehran Beiraghi, Ashrafzadeh, Farah, Imannezhad, Shima, Karimiani, Ehsan Ghayoor, Accogli, Andrea, Schiaffino, Maria Cristina, Maghnie, Mohamad, Soler, Miguel Angel, Echiverri, Karl, Abrams, Charles K., Striano, Pasquale, Fortuna, Sara, Maroofian, Reza, Houlden, Henry, Zara, Federico, Fiorillo, Chiara, and Salpietro, Vincenzo
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- 2022
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40. 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, Bagaglio, Sabrina, Cugnata, Federica, Castagna, Antonella, Uberti-Foppa, Caterina, Salpietro, Stefania, Di Serio, Clelia, and Morsica, Giulia
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- 2022
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41. Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia
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Yap, Zheng Yie, Efthymiou, Stephanie, Seiffert, Simone, Vargas Parra, Karen, Lee, Sukyeong, Nasca, Alessia, Maroofian, Reza, Schrauwen, Isabelle, Pendziwiat, Manuela, Jung, Sunhee, Bhoj, Elizabeth, Striano, Pasquale, Mankad, Kshitij, Vona, Barbara, Cuddapah, Sanmati, Wagner, Anja, Alvi, Javeria Raza, Davoudi-Dehaghani, Elham, Fallah, Mohammad-Sadegh, Gannavarapu, Srinitya, Lamperti, Costanza, Legati, Andrea, Murtaza, Bibi Nazia, Nadeem, Muhammad Shahid, Rehman, Mujaddad Ur, Saeidi, Kolsoum, Salpietro, Vincenzo, von Spiczak, Sarah, Sandoval, Abigail, Zeinali, Sirous, Zeviani, Massimo, Reich, Adi, Jang, Cholsoon, Helbig, Ingo, Barakat, Tahsin Stefan, Ghezzi, Daniele, Leal, Suzanne M., Weber, Yvonne, Houlden, Henry, and Yoon, Wan Hee
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- 2021
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42. Clinical features and comorbidity pattern of HCV infected migrants compared to native patients in care in Italy: A real-life evaluation of the PITER cohort
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Mazzaro, Cesare, Bertola, Manuela, Schioppa, Ornella, Benedetti, Antonio, Schiadà, Laura, Cucco, Monica, Giacometti, Andrea, Brescini, Laura, Castelletti, Sefora, Fiorentini, Alessandro, Angarano, Gioacchino, Milella, Michele, Di Leo, Alfredo, Rendina, Maria, D'abramo, Fulvio Salvatore, Lillo, Chiara, Iannone, Andrea, Piazzolla, Mariano, Verucchi, Gabriella, Badia, Lorenzo, Piscaglia, Fabio, Benevento, Francesca, Serio, Ilaria, Castelli, Francesco, Zaltron, Serena, Spinetti, Angiola, Odolini, Silvia, Bruno, Raffaele, Mondelli, Mario, Chessa, Luchino, Loi, Martina, Torti, Carlo, Costa, Chiara, Mazzitelli, Maria, Pisani, Vincenzo, Scaglione, Vincenzo, Trecarichi, Enrico Maria, Zignego, Anna Linda, Monti, Monica, Madia, Francesco, Blanc, Pier Luigi, Attala, Letizia, Pierotti, Piera, Salomoni, Elena, Mariabelli, Elisa, Santantonio, Teresa Antonia, Bruno, Serena Rita, Cela, Ester Marina, Bassetti, Matteo, Mazzarello, Giovanni, Alessandrini, Anna Ida, Di Biagio, Antonio, Nicolini, Laura Ambra, Raimondo, Giovanni, Filomia, Roberto, Aghemo, Alessio, Meli, Rossella, Lazzarin, Adriano, Morsica, Giulia, Salpietro, Stefania, Galli, Massimo, Fracanzani, Anna Ludovica, Fatta, Erika, Lombardi, Rosa, Lampertico, Pietro, Borghi, Marta, D'ambrosio, Roberta, Degasperi, Elisabetta, Puoti, Massimo, Baiguera, Chiara, D'amico, Federico, Vinci, Maria, Rumi, Maria Grazia, Zuin, Massimo, Giorgini, Alessia, Zermiani, Paola, Andreone, Pietro, Caraceni, Paolo, Margotti, Marzia, Guarneri, Valeria, Villa, Erica, Bernabucci, Veronica, Bristot, Laura, Paradiso, Maria Luisa, Migliorino, Guglielmo, Beretta, Ilaria, Gambaro, Alessandra, Lapadula, Giuseppe, Spolti, Anna, Soria, Alessandro, Invernizzi, Pietro, Ciaccio, Antonio, LucÀ, Martina, Malinverno, Federica, Ratti, Laura, Coppola, Carmine, Amoruso, Daniela Caterina, Pisano, Federica, Scarano, Ferdinando, Staiano, Laura, Morisco, Filomena, Cossiga, Valentina, Gentile, Ivan, Buonomo, Antonio Riccardo, Foggia, Maria, Zappulo, Emanuela, Federico, Alessandro, Dallio, Marcello, Coppola, Nicola, Sagnelli, Caterina, Martini, Salvatore, Monari, Caterina, Nardone, Gerardo, Sgamato, Costantino, Chemello, Liliana, Cavalletto, Luisa, Sterrantino, Daniela, Russo, Francesco Paolo, Zanetto, Alberto, Zanaga, Paola, Barbaro, Francesco, Brancaccio, Giuseppina, Craxì, Antonio, Petta, Salvatore, Calvaruso, Vincenza, Crapanzano, Luciano, Madonia, Salvatore, Cannizzaro, Marco, Bruno, Erica Maria, Licata, Anna, Amodeo, Simona, Capitano, Adele Rosaria, Ferrari, Carlo, Laccabue, Diletta, Negri, Elisa, Orlandini, Alessandra, Pesci, Marco, Gulminetti, Roberto, Pagnucco, Layla, Parruti, Giustino, Di Stefano, Paola, Brunetto, Maurizia Rossana, Coco, Barbara, Massari, Marco, Corsini, Romina, Garlassi, Elisa, Andreoni, Massimo, Teti, Elisabetta, Cerva, Carlotta, Baiocchi, Lorenzo, Tata, Xhimi, Grassi, Giuseppe, Gasbarrini, Antonio, Pompili, Maurizio, De Siena, Martina, Taliani, Gloria, Biliotti, Elisa, Spaziante, Martina, Persico, Marcello, Masarone, Mario, Aglitti, Andrea, Calvanese, Gemma, Anselmo, Marco, De Leo, Pasqualina, Marturano, Monica, Saracco, Giorgio Maria, Ciancio, Alessia, Ieluzzi, Donatella, Quaranta, Maria Giovanna, Ferrigno, Luigina, D'Angelo, Franca, Saracino, Annalisa, and Kondili, Loeta A.
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- 2021
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43. Distinct gene-set burden patterns underlie common generalized and focal epilepsies
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Feng, Yen-Chen Anne, Howrigan, Daniel P, Abbott, Liam E, Tashman, Katherine, Cerrato, Felecia, Singh, Tarjinder, Heyne, Henrike, Byrnes, Andrea, Churchhouse, Claire, Watts, Nick, Solomonson, Matthew, Lal, Dennis, Heinzen, Erin L, Dhindsa, Ryan S, Stanley, Kate E, Cavalleri, Gianpiero L, Hakonarson, Hakon, Helbig, Ingo, Krause, Roland, May, Patrick, Weckhuysen, Sarah, Petrovski, Slavé, Kamalakaran, Sitharthan, Sisodiya, Sanjay M, Cossette, Patrick, Cotsapas, Chris, DeJonghe, Peter, Dixon-Salazar, Tracy, Guerrini, Renzo, Kwan, Patrick, Marson, Anthony G, Stewart, Randy, Depondt, Chantal, Dlugos, Dennis J, Scheffer, Ingrid E, Striano, Pasquale, Freyer, Catharine, McKenna, Kevin, Regan, Brigid M, Bellows, Susannah T, Leu, Costin, Bennett, Caitlin A, Johns, Esther M C, Macdonald, Alexandra, Shilling, Hannah, Burgess, Rosemary, Weckhuysen, Dorien, Bahlo, Melanie, O'Brien, Terence J, Todaro, Marian, Stamberger, Hannah, Andrade, Danielle M, Sadoway, Tara R, Mo, Kelly, Krestel, Heinz, Gallati, Sabina, Papacostas, Savvas S, Kousiappa, Ioanna, Tanteles, George A, Štěrbová, Katalin, Vlčková, Markéta, Sedláčková, Lucie, Laššuthová, Petra, Klein, Karl Martin, Rosenow, Felix, Reif, Philipp S, Knake, Susanne, Kunz, Wolfram S, Zsurka, Gábor, Elger, Christian E, Bauer, Jürgen, Rademacher, Michael, Pendziwiat, Manuela, Muhle, Hiltrud, Rademacher, Annika, vanBaalen, Andreas, vonSpiczak, Sarah, Stephani, Ulrich, Afawi, Zaid, Korczyn, Amos D, Kanaan, Moien, Canavati, Christina, Kurlemann, Gerhard, Müller-Schlüter, Karen, Kluger, Gerhard, Häusler, Martin, Blatt, Ilan, Lemke, Johannes R, Krey, Ilona, Weber, Yvonne G, Wolking, Stefan, Becker, Felicitas, Hengsbach, Christian, Rau, Sarah, Maisch, Ana F, Steinhoff, Bernhard J, Schulze-Bonhage, Andreas, Schubert-Bast, Susanne, Schreiber, Herbert, Borggräfe, Ingo, Schankin, Christoph J, Mayer, Thomas, Korinthenberg, Rudolf, Brockmann, Knut, Dennig, Dieter, Madeleyn, Rene, Kälviäinen, Reetta, Auvinen, Pia, Saarela, Anni, Linnankivi, Tarja, Lehesjoki, Anna-Elina, Rees, Mark I, Chung, Seo-Kyung, Pickrell, William O, Powell, Robert, Schneider, Natascha, Balestrini, Simona, Zagaglia, Sara, Braatz, Vera, Johnson, Michael R, Auce, Pauls, Sills, Graeme J, Baum, Larry W, Sham, Pak C, Cherny, Stacey S, Lui, Colin H T, Barišić, Nina, Delanty, Norman, Doherty, Colin P, Shukralla, Arif, McCormack, Mark, El-Naggar, Hany, Canafoglia, Laura, Franceschetti, Silvana, Castellotti, Barbara, Granata, Tiziana, Zara, Federico, Iacomino, Michele, Madia, Francesca, Vari, Maria Stella, Mancardi, Maria Margherita, Salpietro, Vincenzo, Bisulli, Francesca, Tinuper, Paolo, Licchetta, Laura, Pippucci, Tommaso, Stipa, Carlotta, Minardi, Raffaella, Gambardella, Antonio, Labate, Angelo, Annesi, Grazia, Manna, Lorella, Gagliardi, Monica, Parrini, Elena, Mei, Davide, Vetro, Annalisa, Bianchini, Claudia, Montomoli, Martino, Doccini, Viola, Marini, Carla, Suzuki, Toshimitsu, Inoue, Yushi, Yamakawa, Kazuhiro, Tumiene, Birute, Sadleir, Lynette G, King, Chontelle, Mountier, Emily, Caglayan, Hande S, Arslan, Mutluay, Yapıcı, Zuhal, Yis, Uluc, Topaloglu, Pınar, Kara, Bulent, Turkdogan, Dilsad, Gundogdu-Eken, Aslı, Bebek, Nerses, Uğur-İşeri, Sibel, Baykan, Betül, Salman, Barış, Haryanyan, Garen, Yücesan, Emrah, Kesim, Yeşim, Özkara, Çiğdem, Poduri, Annapurna, Shiedley, Beth R, Shain, Catherine, Buono, Russell J, Ferraro, Thomas N, Sperling, Michael R, Lo, Warren, Privitera, Michael, French, Jacqueline A, Schachter, Steven, Kuzniecky, Ruben I, Devinsky, Orrin, Hegde, Manu, Khankhanian, Pouya, Helbig, Katherine L, Ellis, Colin A, Spalletta, Gianfranco, Piras, Fabrizio, Piras, Federica, Gili, Tommaso, Ciullo, Valentina, Reif, Andreas, McQuillin, Andrew, Bass, Nick, McIntosh, Andrew, Blackwood, Douglas, Johnstone, Mandy, Palotie, Aarno, Pato, Michele T, Pato, Carlos N, Bromet, Evelyn J, Carvalho, Celia Barreto, Achtyes, Eric D, Azevedo, Maria Helena, Kotov, Roman, Lehrer, Douglas S, Malaspina, Dolores, Marder, Stephen R, Medeiros, Helena, Morley, Christopher P, Perkins, Diana O, Sobell, Janet L, Buckley, Peter F, Macciardi, Fabio, Rapaport, Mark H, Knowles, James A, Cohort, Genomic Psychiatry, Fanous, Ayman H, McCarroll, Steven A, Gupta, Namrata, Gabriel, Stacey B, Daly, Mark J, Lander, Eric S, Lowenstein, Daniel H, Goldstein, David B, Lerche, Holger, Berkovic, Samuel F, Neale, Benjamin M, Koko, Mahmoud, Sander, Thomas, Bobbili, Dheeraj Reddy, and Nothnagel, Michael
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- 2021
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44. Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies
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Dworschak, Gabriel C., Punetha, Jaya, Kalanithy, Jeshurun C., Mingardo, Enrico, Erdem, Haktan B., Akdemir, Zeynep C., Karaca, Ender, Mitani, Tadahiro, Marafi, Dana, Fatih, Jawid M., Jhangiani, Shalini N., Hunter, Jill V., Dakal, Tikam Chand, Dhabhai, Bhanupriya, Dabbagh, Omar, Alsaif, Hessa S., Alkuraya, Fowzan S., Maroofian, Reza, Houlden, Henry, Efthymiou, Stephanie, Dominik, Natalia, Salpietro, Vincenzo, Sultan, Tipu, Haider, Shahzad, Bibi, Farah, Thiele, Holger, Hoefele, Julia, Riedhammer, Korbinian M., Wagner, Matias, Guella, Ilaria, Demos, Michelle, Keren, Boris, Buratti, Julien, Charles, Perrine, Nava, Caroline, Héron, Delphine, Heide, Solveig, Valkanas, Elise, Waddell, Leigh B., Jones, Kristi J., Oates, Emily C., Cooper, Sandra T., MacArthur, Daniel, Syrbe, Steffen, Ziegler, Andreas, Platzer, Konrad, Okur, Volkan, Chung, Wendy K., O’Shea, Sarah A., Alcalay, Roy, Fahn, Stanley, Mark, Paul R., Guerrini, Renzo, Vetro, Annalisa, Hudson, Beth, Schnur, Rhonda E., Hoganson, George E., Burton, Jennifer E., McEntagart, Meriel, Lindenberg, Tobias, Yilmaz, Öznur, Odermatt, Benjamin, Pehlivan, Davut, Posey, Jennifer E., Lupski, James R., and Reutter, Heiko
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- 2021
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45. L1CAM variants cause two distinct imaging phenotypes on fetal MRI
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Andrea Accogli, Stacy Goergen, Giana Izzo, Kshitij Mankad, Karina Krajden Haratz, Cecilia Parazzini, Michael Fahey, Lara Menzies, Julia Baptista, Lucia Carpineta, Domenico Tortora, Ezio Fulcheri, Valerio Gaetano Vellone, Dario Paladini, Luigina Spaccini, Valentina Toto, Claire Trayers, Liat Ben Sira, Adi Reches, Gustavo Malinger, Vincenzo Salpietro, Patrizia De Marco, Myriam Srour, Federico Zara, Valeria Capra, Andrea Rossi, and Mariasavina Severino
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Neurosciences. Biological psychiatry. Neuropsychiatry ,RC321-571 ,Neurology. Diseases of the nervous system ,RC346-429 - Abstract
Abstract Data on fetal MRI in L1 syndrome are scarce with relevant implications for parental counseling and surgical planning. We identified two fetal MR imaging patterns in 10 fetuses harboring L1CAM mutations: the first, observed in 9 fetuses was characterized by callosal anomalies, diencephalosynapsis, and a distinct brainstem malformation with diencephalic–mesencephalic junction dysplasia and brainstem kinking. Cerebellar vermis hypoplasia, aqueductal stenosis, obstructive hydrocephalus, and pontine hypoplasia were variably associated. The second pattern observed in one fetus was characterized by callosal dysgenesis, reduced white matter, and pontine hypoplasia. The identification of these features should alert clinicians to offer a prenatal L1CAM testing.
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- 2021
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46. Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals
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Motelow, Joshua E., Povysil, Gundula, Dhindsa, Ryan S., Stanley, Kate E., Allen, Andrew S., Feng, Yen-Chen Anne, Howrigan, Daniel P., Abbott, Liam E., Tashman, Katherine, Cerrato, Felecia, Cusick, Caroline, Singh, Tarjinder, Heyne, Henrike, Byrnes, Andrea E., Churchhouse, Claire, Watts, Nick, Solomonson, Matthew, Lal, Dennis, Gupta, Namrata, Neale, Benjamin M., Cavalleri, Gianpiero L., Cossette, Patrick, Cotsapas, Chris, De Jonghe, Peter, Dixon-Salazar, Tracy, Guerrini, Renzo, Hakonarson, Hakon, Heinzen, Erin L., Helbig, Ingo, Kwan, Patrick, Marson, Anthony G., Petrovski, Slavé, Kamalakaran, Sitharthan, Sisodiya, Sanjay M., Stewart, Randy, Weckhuysen, Sarah, Depondt, Chantal, Dlugos, Dennis J., Scheffer, Ingrid E., Striano, Pasquale, Freyer, Catharine, Krause, Roland, May, Patrick, McKenna, Kevin, Regan, Brigid M., Bennett, Caitlin A., Leu, Costin, Leech, Stephanie L., O’Brien, Terence J., Todaro, Marian, Stamberger, Hannah, Andrade, Danielle M., Ali, Quratulain Zulfiqar, Sadoway, Tara R., Krestel, Heinz, Schaller, André, Papacostas, Savvas S., Kousiappa, Ioanna, Tanteles, George A., Christou, Yiolanda, Štěrbová, Katalin, Vlčková, Markéta, Sedláčková, Lucie, Laššuthová, Petra, Klein, Karl Martin, Rosenow, Felix, Reif, Philipp S., Knake, Susanne, Neubauer, Bernd A., Zimprich, Friedrich, Feucht, Martha, Reinthaler, Eva M., Kunz, Wolfram S., Zsurka, Gábor, Surges, Rainer, Baumgartner, Tobias, von Wrede, Randi, Pendziwiat, Manuela, Muhle, Hiltrud, Rademacher, Annika, van Baalen, Andreas, von Spiczak, Sarah, Stephani, Ulrich, Afawi, Zaid, Korczyn, Amos D., Kanaan, Moien, Canavati, Christina, Kurlemann, Gerhard, Müller-Schlüter, Karen, Kluger, Gerhard, Häusler, Martin, Blatt, Ilan, Lemke, Johannes R., Krey, Ilona, Weber, Yvonne G., Wolking, Stefan, Becker, Felicitas, Lauxmann, Stephan, Boßelmann, Christian, Kegele, Josua, Hengsbach, Christian, Rau, Sarah, Steinhoff, Bernhard J., Schulze-Bonhage, Andreas, Borggräfe, Ingo, Schankin, Christoph J., Schubert-Bast, Susanne, Schreiber, Herbert, Mayer, Thomas, Korinthenberg, Rudolf, Brockmann, Knut, Wolff, Markus, Dennig, Dieter, Madeleyn, Rene, Kälviäinen, Reetta, Saarela, Anni, Timonen, Oskari, Linnankivi, Tarja, Lehesjoki, Anna-Elina, Rheims, Sylvain, Lesca, Gaetan, Ryvlin, Philippe, Maillard, Louis, Valton, Luc, Derambure, Philippe, Bartolomei, Fabrice, Hirsch, Edouard, Michel, Véronique, Chassoux, Francine, Rees, Mark I., Chung, Seo-Kyung, Pickrell, William O., Powell, Robert, Baker, Mark D., Fonferko-Shadrach, Beata, Lawthom, Charlotte, Anderson, Joseph, Schneider, Natascha, Balestrini, Simona, Zagaglia, Sara, Braatz, Vera, Johnson, Michael R., Auce, Pauls, Sills, Graeme J., Baum, Larry W., Sham, Pak C., Cherny, Stacey S., Lui, Colin H.T., Delanty, Norman, Doherty, Colin P., Shukralla, Arif, El-Naggar, Hany, Widdess-Walsh, Peter, Barišić, Nina, Canafoglia, Laura, Franceschetti, Silvana, Castellotti, Barbara, Granata, Tiziana, Ragona, Francesca, Zara, Federico, Iacomino, Michele, Riva, Antonella, Madia, Francesca, Vari, Maria Stella, Salpietro, Vincenzo, Scala, Marcello, Mancardi, Maria Margherita, Nobili, Lino, Amadori, Elisabetta, Giacomini, Thea, Bisulli, Francesca, Pippucci, Tommaso, Licchetta, Laura, Minardi, Raffaella, Tinuper, Paolo, Muccioli, Lorenzo, Mostacci, Barbara, Gambardella, Antonio, Labate, Angelo, Annesi, Grazia, Manna, Lorella, Gagliardi, Monica, Parrini, Elena, Mei, Davide, Vetro, Annalisa, Bianchini, Claudia, Montomoli, Martino, Doccini, Viola, Barba, Carmen, Hirose, Shinichi, Ishii, Atsushi, Suzuki, Toshimitsu, Inoue, Yushi, Yamakawa, Kazuhiro, Beydoun, Ahmad, Nasreddine, Wassim, Khoueiry Zgheib, Nathalie, Tumiene, Birute, Utkus, Algirdas, Sadleir, Lynette G., King, Chontelle, Caglayan, S. Hande, Arslan, Mutluay, Yapıcı, Zuhal, Topaloglu, Pınar, Kara, Bulent, Yis, Uluc, Turkdogan, Dilsad, Gundogdu-Eken, Aslı, Bebek, Nerses, Uğur-İşeri, Sibel, Baykan, Betül, Salman, Barış, Haryanyan, Garen, Yücesan, Emrah, Kesim, Yeşim, Özkara, YeşÇiğdem, Tsai, Meng-Han, Ho, Chen-Jui, Lin, Chih-Hsiang, Lin, Kuang-Lin, Chou, I-Jun, Poduri, Annapurna, Shiedley, Beth R., Shain, Catherine, Noebels, Jeffrey L., Goldman, Alicia, Busch, Robyn M., Jehi, Lara, Najm, Imad M., Ferguson, Lisa, Khoury, Jean, Glauser, Tracy A., Clark, Peggy O., Buono, Russell J., Ferraro, Thomas N., Sperling, Michael R., Lo, Warren, Privitera, Michael, French, Jacqueline A., Schachter, Steven, Kuzniecky, Ruben I., Devinsky, Orrin, Hegde, Manu, Greenberg, David A., Ellis, Colin A., Goldberg, Ethan, Helbig, Katherine L., Cosico, Mahgenn, Vaidiswaran, Priya, Fitch, Eryn, Berkovic, Samuel F., Lerche, Holger, Lowenstein, Daniel H., and Goldstein, David B.
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- 2021
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47. Broad neurodevelopmental features and cortical anomalies associated with a novel de novo KMT2A variant in Wiedemann−Steiner syndrome
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Nardello, Rosaria, Mangano, Giuseppe Donato, Fontana, Antonina, Gagliardo, Cesare, Midiri, Federico, Borgia, Paola, Brighina, Filippo, Raieli, Vincenzo, Mangano, Salvatore, and Salpietro, Vincenzo
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- 2021
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48. Editorial: Genetically determined epilepsies: Perspectives in the era of precision medicine
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Mario Mastrangelo, Vincenzo Salpietro, and Joseph Sullivan
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genetic epilepsies ,next generation sequencing ,neurodevelopmental disorders ,copy number variants ,children ,Neurology. Diseases of the nervous system ,RC346-429 - Published
- 2022
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49. Allelic and phenotypic heterogeneity in Junctophillin-3 related neurodevelopmental and movement disorders
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Bourinaris, Thomas, Athanasiou, Alkyoni, Efthymiou, Stephanie, Wiethoff, Sarah, Salpietro, Vincenzo, and Houlden, Henry
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- 2021
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50. Safety and Psychological Outcomes of Tandem t:Slim X2 Insulin Pump with Control-IQ Technology in Children, Adolescents, and Young Adults with Type 1 Diabetes: A Systematic Review.
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Mameli, Chiara, Smylie, Giulia Marie, Marigliano, Marco, Zagaroli, Luca, Mancioppi, Valentina, Maffeis, Claudio, Salpietro, Vincenzo, Zuccotti, Gianvincenzo, and Delvecchio, Maurizio
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TYPE 1 diabetes ,YOUNG adults ,SLEEP quality ,PEOPLE with diabetes ,QUALITY of life ,INSULIN pumps - Abstract
The Tandem t:slim X2 insulin pump is a second-generation automated insulin delivery system with Control-IQ technology. It consists of an X2 insulin pump, an integrated Dexcom sensor, and an embedded 'Control-IQ' algorithm, which predicts glucose levels 30 min in the future, adapting the programmed basal insulin rates to get glucose levels between 112.5 and 160 mg/dl (8.9 mmol/l). The system delivers automatic correction boluses of insulin when glucose levels are predicted to rise > 180 mg/dl (10 mmol/l). It has been commercially available since 2016. We reviewed the current evidence about the psychological, safety, and exercise-related outcomes of this device in children, adolescents, and young adults living with type 1 diabetes. We screened 552 papers, but only 21 manuscripts were included in this review. Fear of hypoglycemia is significantly reduced in young people with diabetes and their parents. Interestingly, diabetes-related distress is decreased; thus, the system is well accepted by the users. The sleeping quality of subjects living with diabetes and their caregivers is improved to a lesser extent as well. Despite the small number of data, this system is associated with a low rate of exercise-related hypoglycemia. Finally, evidence from the literature shows that this system is safe and effective in improving psychological personal outcomes. Even if further steps toward the fully closed loop are still mandatory, this second-generation automated insulin delivery system reduces the burden of diabetes. It properly addresses most psychological issues in children, adolescents, and young adults with type 1 diabetes mellitus; thus, it appears to be well accepted. [ABSTRACT FROM AUTHOR]
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- 2024
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