日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy

GRIN2A基因的无义突变会增加早发性精神分裂症和其他精神障碍的风险,并有可能实现精准治疗。

Lemke, Johannes R; Eoli, Andrea; Krey, Ilona; Popp, Bernt; Strehlow, Vincent; Wittekind, Dirk A; Vuorinen, Anna-Leena; Aldhalaan, Hesham M; Baer, Sarah; de Saint Martin, Anne; Hammer, Trine B; Herman, Isabella; Hornemann, Frauke; Ingebrigtsen, Trine; Lederer, Damien; Lesca, Gaetan; Marafie, Dana; Mathot, Mikael; Rosenfeld, Jill A; Møller, Rikke S; Schelhaas, Helenius J; Stillman, Chelsey; Orsini, Alessandro; Patel, Anup D; Piard, Juliette; Veggiotti, Pierangelo; Vlaskamp, Danique R M; Weckhuysen, Sarah; Traynelis, Stephen F; Benke, Tim A; Heyne, Henrike O; Syrbe, Steffen

Correction: GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy

更正:GRIN2A 基因缺失变异会增加早发性精神分裂症和其他精神障碍的风险,并可能使精准治疗成为可能。

Lemke, Johannes R; Eoli, Andrea; Krey, Ilona; Popp, Bernt; Strehlow, Vincent; Wittekind, Dirk A; Vuorinen, Anna-Leena; Aldhalaan, Hesham M; Baer, Sarah; de Saint Martin, Anne; Hammer, Trine B; Herman, Isabella; Hornemann, Frauke; Ingebrigtsen, Trine; Lederer, Damien; Lesca, Gaetan; Marafie, Dana; Mathot, Mikael; Rosenfeld, Jill A; Møller, Rikke S; Schelhaas, Helenius J; Stillman, Chelsey; Orsini, Alessandro; Patel, Anup D; Piard, Juliette; Veggiotti, Pierangelo; Vlaskamp, Danique R M; Weckhuysen, Sarah; Traynelis, Stephen F; Benke, Tim A; Heyne, Henrike O; Syrbe, Steffen

GLUT1 deficiency syndrome in adulthood: lost in diagnosis

成人GLUT1缺乏症:诊断失误

Previtali, Roberto; Adami, Lara; Benvenuto, Chiara; Gianola, Luca; Segarizzi, Camilla; Benzoni, Chiara; Granata, Tiziana; Veggiotti, Pierangelo; Ragona, Francesca

Development and Adaptive Function in Individuals With SCN2A-Related Disorders

SCN2A相关疾病患者的发育和适应功能

Goad, Beatrice Southby; Rodda, Jill; Allen, Meagan; Bamborschke, Daniel; Overmars, Isabella; Kerr, Rachel J; Bushlin, Ittai; Chopra, Saurabh; Coorg, Rohini; Dabscheck, Gabriel; Freeman, Jeremy L; Mackay, Mark T; Devinsky, Orrin; Guerrini, Renzo; Parrini, Elena; Bölsterli, Bigna; Hughes, Inna; Huh, Linda L; Kamate, Mahesh; Kunz, Abby B; Melikishvili, Gia; Miteff, Christina; Myers, Kenneth Alexis; Olson, Heather E; Poduri, Annapurna; Pillai, Sekhar; Riney, Catherine Kate; Sinclair, Adriane; Calvert, Sophie; Reynolds, Thomas Q; Martinez, Ana Roche; Russo, Angelo; Sadleir, Lynette Grant; Sanchez-Albisua, Iciar; Sartori, Stefano; Shea, Stephanie; Smith-Hicks, Constance L; Spooner, Claire G; Thomas, Rhys H; Ardern-Holmes, Simone L; Webster, Richard Ian; Valeriani, Massimiliano; Veggiotti, Pierangelo; Masnada, Silvia; Ware, Tyson L; Yoong, Michael; Berecki, Geza; De Dominicis, Angela; Specchio, Nicola; Trivisano, Marina; Møller, Rikke Steensbjerre; Wolff, Markus; Fazeli, Walid; Scheffer, Ingrid; Howell, Katherine B

Developmental and epileptic encephalopathy with spike-wave activation in sleep: From the 'functional ablation' model to a neurodevelopmental network perspective

睡眠中棘慢波激活的发育性和癫痫性脑病:从“功能性消融”模型到神经发育网络视角

Andreoli, Luca; Bova, Stefania Maria; Veggiotti, Pierangelo

Newborn Screening of X-Linked Adrenoleukodystrophy in Italy: Clinical and Biochemical Outcomes from a 4-Year Pilot Study

意大利新生儿X连锁肾上腺脑白质营养不良筛查:一项为期4年的试点研究的临床和生化结果

Bonaventura, Eleonora; Bruschi, Fabio; Alberti, Luisella; Antonello, Clara; Arrigoni, Filippo; Balestriero, Marina; Borsani, Barbara; Cappelletti, Laura; Cattaneo, Elisa; Ferrario, Matilde; Fiore, Giulia; Iascone, Maria; Izzo, Giana; Lucchi, Simona; Parazzini, Cecilia; Perrone Donnorso, Michela; Spaccini, Luigina; Vaia, Ylenia; Veggiotti, Pierangelo; Verduci, Elvira; Zuccotti, Gianvincenzo; Cereda, Cristina; Tonduti, Davide; Xald-Nbs Study Group

Reversible Perfusion Changes during Acute Attacks in Glucose Transporter Type 1 Deficiency Syndrome: A Pediatric Case Series

葡萄糖转运蛋白1型缺乏综合征急性发作期间可逆性灌注变化:儿科病例系列研究

Pacchiano, Francesco; Doneda, Chiara; Arrigoni, Filippo; Tortora, Mario; Contaldo, Maria Teresa; Lomonaco, Germana; Previtali, Roberto; Olivotto, Sara; Veggiotti, Pierangelo; Parazzini, Cecilia; Righini, Andrea

Impact of touch interventions on brain activity in moderately preterm infants: study protocol for a pilot randomised controlled trial

触觉干预对中度早产儿脑活动的影响:一项试点随机对照试验的研究方案

Manzotti, Andrea; Cerritelli, Francesco; Lombardi, Erica; Tansini, Laura; Pisanu, Desdemona; Di Leo, Debora; Vergani, Elisa; Righini, Andrea; Arrigoni, Filippo; Fanos, Vassilios; Rescigno, Maria; Veggiotti, Pierangelo; Lista, Gianluca; Gazzolo, Diego

Role of Daytime Continuous Polysomnography in the Diagnosis of Pediatric Narcolepsy Type 1

日间连续多导睡眠图在儿童发作性睡病1型诊断中的作用

Pizza, Fabio; Vignatelli, Luca; Vandi, Stefano; Zenesini, Corrado; Biscarini, Francesco; Franceschini, Christian; Antelmi, Elena; Ingravallo, Francesca; Mignot, Emmanuel; Bruni, Oliviero; Nobili, Lino; Veggiotti, Pierangelo; Ferri, Raffaele; Plazzi, Giuseppe

Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study

遗传性癫痫和早发性发育性癫痫性脑病:一项多中心研究

Cavirani, Benedetta; Spagnoli, Carlotta; Caraffi, Stefano Giuseppe; Cavalli, Anna; Cesaroni, Carlo Alberto; Cutillo, Gianni; De Giorgis, Valentina; Frattini, Daniele; Marchetti, Giulia Bruna; Masnada, Silvia; Peron, Angela; Rizzi, Susanna; Varesio, Costanza; Spaccini, Luigina; Vignoli, Aglaia; Canevini, Maria Paola; Veggiotti, Pierangelo; Garavelli, Livia; Fusco, Carlo