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

When gene replacement becomes a double-edged sword: Guardrails for precision neurotherapeutics in Lafora disease

基因替代疗法是一把双刃剑:拉福拉病精准神经治疗的护栏

Riva, Antonella; Striano, Pasquale

Lennox-Gastaut syndrome unveiled: Advancing diagnosis, therapies, and advocacy-insights from the Genoa International Workshop

Lennox-Gastaut综合征揭开面纱:推进诊断、治疗和宣传——来自热那亚国际研讨会的见解

Riva, Antonella; D'Onofrio, Gianluca; Amadori, Elisabetta; Arzimanoglou, Alexis; Auvin, Stéphane; Bagnasco, Irene; Barabino, Paola; Biagioli, Valentina; Brambilla, Isabella; Cangemi, Giuliana; Coppola, Antonietta; De Lillo, Antonella; Di Bonaventura, Carlo; Di Gennaro, Giancarlo; Ferlazzo, Edoardo; Gil-Nagel, Antonio; Gobbi, Giuseppe; Lattanzi, Simona; Kluger, Gerhard; Krämer, Günter; Mancardi, Maria Margherita; Minetti, Carlo; Nobili, Lino; Paravati, Elisa; Pringsheim, Milka; Rebessi, Erika; Romeo, Antonino; Russo, Angelo; Russo, Emilio; Santoro, Katia; Schubert-Bast, Susanne; Siri, Laura; Sourbron, Jo; Vari, Maria Stella; Verrotti, Alberto; Villani, Flavio; Viri, Maurizio; von Stülpnagel, Celina; Zamponi, Nelia; Zara, Federico; Striano, Pasquale

Memantine treatment in individuals with GRIN gain-of-function variants is associated with improvements in behavior, development, and seizure frequency

在携带GRIN功能获得性变异的个体中,美金刚治疗与行为、发育和癫痫发作频率的改善相关。

Karnstedt, Maike; Perszyk, Riley E; Myers, Scott J; McDaniels, Ellington; Somorai, Marta; Borggraefe, Ingo; Veenma, Danielle C M; Schoonjans, An-Sofie; Striano, Pasquale; Fantaneanu, Tadeu A; Syrbe, Steffen; Park, Kristen; Chen, Wenjuan; Yuan, Hongjie; Traynelis, Stephen F; Benke, Timothy A; Lemke, Johannes R; Krey, Ilona

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants

癫痫发作对携带致病性GABRB2和GABRB3变异的个体粗大运动功能障碍的预测价值

Ortiz, Sebastian; Affronte, Leonardo; Bagliani, Chiara; El-Kamand, Serene; Kan, Anthony Sze Hon; Kristoffersen, Isabel T; Dahl, Rebekka S; Højte, Anne F; Auvin, Stéphane; Bouman, Arjan; Zeidler, Shimriet; Kluger, Gerhard; Lesca, Gaetan; Chatron, Nicolas; Goke-Samar, Zeynep; Papadopoulou, Maria T; Terzi, Matthildi Athina Papathanasiou; Schaefer, Elise; de Saint Martin, Anne; Baer, Sarah; Al Owain, Mohammed; Takroni, Saud; Al-Dhalaan, Hesham; Bonanni, Paolo; Rossi, Alessandra; Zanotta, Nicoletta; Trivisano, Marina; Specchio, Nicola; de Dominicis, Angela; Striano, Pasquale; Orsini, Alessandro; Mancardi, Maria Margherita; Neuens, Sebastian; Jennesson-Lyver, Melanie; Benkel-Herrenbrueck, Ira; Genevieve, David; Sidlow, Richard; Tezcan, Kamer; Krey, Ilona; Lemke, Johannes R; Platzer, Konrad; Lederer, Damien; Talvik, Inga; Vaher, Ulvi; Braun, Kees P J; Guerrot, Anne-Marie; More, Rebecca; De Wachter, Matthias; Weckhuysen, Sarah; Carapancea, Evelina; Cilio, Maria Roberta; Jacobs, Julia; Sterbova, Katalin; Balestrini, Simona; Guerrini, Renzo; Peroni, Giulio; Mero, Inger-Lise; ElNaggar, Walaa; Elkhateeb, Nour; Schmetz, Ariane; Chan, Denise L; Mirzaa, Ghayda M; Chaumette, Boris; Legrand, Adrien; McTague, Amy; Stödberg, Tommy; Harris, Rebekah V; Berkovic, Samuel F; Scheffer, Ingrid E; Chebib, Mary; Gardella, Elena; Ahring, Philip K; Absalom, Nathan L; Møller, Rikke S

Beyond breastfeeding: a One Health Decalogue for nurturing the infant microbiota

超越母乳喂养:培育婴儿微生物群的“同一健康十诫”

Biagioli, Valentina; Matera, Mariarosaria; Cavecchia, Ilaria; Illiceto, Mariateresa; Pennazzi, Laura; Luongo, Gaia; Lugli, Sebastian; Striano, Pasquale

Functional Characterization of a De Novo SCN2A Mixed Variant Linked to Early Infantile Developmental and Epileptic Encephalopathy.

对与早期婴儿发育和癫痫性脑病相关的SCN2A新生混合变异进行功能表征。

Corradi Anna, Riva Antonella, Sterlini Bruno, Morinelli Lisastella, Ludovico Alessandra, Madia Francesca, Striano Pasquale, Albini Martina, Vitale Paola, Pusch Michael, Lombardo Giulia, Elia Maurizio, Chatron Nicolas, Lesca Gaetan, Zara Federico, Falsaperla Raffaele, Ferrera Loretta

Fenfluramine in SCN1A-related GEFS+: A multicenter observational study on efficacy, EEG improvement, and tolerability

芬氟拉明治疗 SCN1A 相关 GEFS+:一项关于疗效、脑电图改善和耐受性的多中心观察性研究

Dell'Isola, Giovanni B; Muda, Alice; Giordano, Lucio; Guerrini, Renzo; Boncristiano, Alessandra; Pietrafusa, Nicola; Polselli, Maria; Bisulli, Francesca; Ragona, Francesca; Riva, Antonella; Striano, Pasquale; Battaglia, Domenica Immacolata; Vigevano, Federico

Biallelic Rare COL18A1 Variants in Patients With Neurological Phenotypes Without Severe Ophthalmologic Abnormalities

罕见的COL18A1双等位基因变异与神经系统表型相关,但无严重眼部异常

Guberman, Guido; Scala, Marcello; Striano, Pasquale; Zara, Federico; Severino, Mariasavina; Argilli, Emanuela; Sherr, Elliott H; Myers, Kenneth A

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification

基因门户:将临床、功能和结构证据整合到罕见病变异分类中的框架

Brünger, Tobias; Krey, Ilona; Kim, Suyeon; Klöckner, Chiara; Myers, Scott J; Johannesen, Katrine M; Stefanski, Arthur; Taylor, Gary; Perez-Palma, Eduardo; Macnee, Marie; Schorge, Stephanie; Dahl, Rebekka S; Yuan, Hongjie; Perszyk, Riley E; Kim, Sukhan; Bajaj, Sunanjay; Helbig, Ingo; Pan, Jen Q; Farrant, Mark; Wollmuth, Lonnie; Wyllie, David J A; Kurganov, Erkin; Baez, David; Zuberi, Sameer; Boßelmann, Christian M; Lerche, Holger; Mantegazza, Massimo; Cestèle, Sandrine; May, Patrick; Ivaniuk, Alina; Meskis, Mary Anne; Hood, Veronica; Schust, Leah; Goodspeed, Kimberly; Kang, Jing-Qiong; Freed, Amber; Gati, Cornelius; Montanucci, Ludovica; Wuster, Arthur; Trinidad, Marena; Froelich, Steven; Deng, Alexander T; Serrano, Ángel Aledo; Borovikov, Artem; Sharkov, Artem; Bouman, Arjan; Hajianpour, M J; Pal, Deb K; Danvoye, Leslie; Lederer, Damien; Balci, Tugce R; Hagebeuk, Eveline E O; Heidlebaugh, Alexis; Oetjens, Kathryn; Hoffman, Trevor L; Striano, Pasquale; Williams, Sarah Drewes; van Engelen, Kalene; Howell, Katherine B; Khoury, Jean; Benke, Tim A; Strehlow, Vincent; Platzer, Konrad; Ramsey, Amy; Manaster, Lisa; Malepati, Sunitha; Fox, Pangkong; Noebels, Jeffrey; Chung, Wendy; Poduri, Annapurna; Stripe, Laina Lusk; Ruggiero, Sarah M; Cohen, Stacey; Smith, Lacey; Boesch, Sylvia; Wilmarth, Olivia; Prentice, Anna Jenne; Cha, Esther; Budnik, Nikita; Hommersom, Marina P; Kramer, Audra; Vanoye, Carlos G; Zhang, Guo-Qiang; Nothnagel, Michael; Palotie, Aarno; Daly, Mark J; George, Alfred L Jr; Zarate, Yuri A; Brunklaus, Andreas; Traynelis, Stephen F; Møller, Rikke S; Lemke, Johannes R; Lal, Dennis

Genome-wide association study of long COVID

针对新冠长期症状的全基因组关联研究

Lammi, Vilma; Nakanishi, Tomoko; Jones, Samuel E; Andrews, Shea J; Karjalainen, Juha; Cortés, Beatriz; O'Brien, Heath E; Ochoa-Guzman, Ana; Fulton-Howard, Brian E; Broberg, Martin; Haapaniemi, Hele H; Kanai, Masahiro; Pirinen, Matti; Schmidt, Axel; Mitchell, Ruth E; Mousas, Abdou; Mangino, Massimo; Huerta-Chagoya, Alicia; Sinnott-Armstrong, Nasa; Cirulli, Elizabeth T; Vaudel, Marc; Kwong, Alex S F; Maiti, Amit K; Marttila, Minttu M; Posner, Daniel C; Rodriguez, Alexis A; Batini, Chiara; Minnai, Francesca; Dearman, Anna R; Warmerdam, C A Robert; Sequeros, Celia B; Winkler, Thomas W; Jordan, Daniel M; Rešcenko, Raimonds; Miano, Lorenzo; Lane, Jacqueline M; Chung, Ryan K; Guillen-Guio, Beatriz; Leavy, Olivia C; Carvajal-Silva, Laura; Aguilar-Valdés, Kevin; Frangione, Erika; Guare, Lindsay; Vergasova, Ekaterina; Marouli, Eirini; Striano, Pasquale; Zainulabid, Ummu Afeera; Kumar, Ashutosh; Ahmad, Hajar Fauzan; Edahiro, Ryuya; Azekawa, Shuhei; Luoh, Shiuh-Wen; Erikstrup, Christian; Pedersen, Ole B V; Lerner-Ellis, Jordan; Colombo, Alicia; Grzymski, Joseph J; Ishii, Makoto; Okada, Yukinori; Beckmann, Noam D; Kumari, Meena; Wagner, Ralf; Heid, Iris M; John, Catherine; Short, Patrick J; Magnus, Per; Ansone, Laura; Valenti, Luca V C; Lee, Sulggi A; Wain, Louise V; Verdugo, Ricardo A; Banasik, Karina; Geller, Frank; Franke, Lude H; Rakitko, Alexander; Duncan, Emma L; Renieri, Alessandra; Tsilidis, Konstantinos K; de Cid, Rafael; Niavarani, Ahmadreza; Abner, Erik; Tusié-Luna, Teresa; Verma, Shefali S; Smith, George Davey; Timpson, Nicholas J; Madduri, Ravi K; Cho, Kelly; Daly, Mark J; Ganna, Andrea; Schulte, Eva C; Richards, J Brent; Ludwig, Kerstin U; Marks-Hultström, Michael; Zeberg, Hugo; Ollila, Hanna M