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

Biallelic variants in CELSR1 cause brain malformations, neurodevelopmental disorders and epilepsy in humans

CELSR1基因的双等位基因变异会导致人类脑畸形、神经发育障碍和癫痫。

Bonardi, Claudia M; Møller, Rikke S; Ruiz-Reig, Nuria; Chai, Guoliang; Madsen, Camilla G; Bayat, Allan; Hammer, Trine B; Fenger, Christina D; Gardella, Elena; Gawlinski, Pawel; Dawidziuk, Mateusz; Wiszniewski, Wojciech; Bekiesinska-Figatowska, Monika; Cabet, Sara; Rossi, Massimiliano; Lesca, Gaetan; Gouy, Evan; Jepsen, Birgit; Mieszczanek, Tomasz S; Sanchez Russo, Rossana; Barr, Eileen E; Õunap, Katrin; Ilves, Pilvi; Wojcik, Monica H; Aittaleb, Mohamed; Brusgaard, Klaus; Tissir, Fadel; Rubboli, Guido

Prenatal Diagnosis and Neurodevelopmental Outcome of Children With Marked Opening of the Fourth Ventricle: Challenges and Pitfalls in MRI Diagnostic Criteria

产前诊断及第四脑室明显开放患儿的神经发育结局:MRI诊断标准的挑战与陷阱

Schieffer, Léa; Garel, Catherine; Guibaud, Laurent; Rougeot-Jung, Christelle; Burglen, Lydie; Massoud, Mona; Ville, Dorothée; Blondiaux, Eléonore; Jouannic, Jean Marie; Cabet, Sara; DesPortes, Vincent; Valence, Stéphanie

Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder

TRMT1基因的双等位致病变异会破坏tRNA修饰并诱发神经发育障碍。

Efthymiou, Stephanie; Leo, Cailyn P; Deng, Chenghong; Lin, Sheng-Jia; Maroofian, Reza; Lin, Renee; Karagoz, Irem; Zhang, Kejia; Kaiyrzhanov, Rauan; Scardamaglia, Annarita; Owrang, Daniel; Turchetti, Valentina; Jahnke, Friederike; Huang, Kevin; Petree, Cassidy; Derrick, Anna V; Rees, Mark I; Alvi, Javeria Raza; Sultan, Tipu; Li, Chumei; Jacquemont, Marie-Line; Tran-Mau-Them, Frederic; Valenzuela-Palafoll, Maria; Sidlow, Rich; Yoon, Grace; Morrow, Michelle M; Carere, Deanna Alexis; O'Connor, Mary; Fleischer, Julie; Gerkes, Erica H; Phornphutkul, Chanika; Isidor, Bertrand; Rivier-Ringenbach, Clotilde; Philippe, Christophe; Kurul, Semra Hiz; Soydemir, Didem; Kara, Bulent; Sunnetci-Akkoyunlu, Deniz; Bothe, Viktoria; Platzer, Konrad; Wieczorek, Dagmar; Koch-Hogrebe, Margarete; Rahner, Nils; Thuresson, Ann-Charlotte; Matsson, Hans; Frykholm, Carina; Bozdoğan, Sevcan Tuğ; Bisgin, Atil; Chatron, Nicolas; Lesca, Gaetan; Cabet, Sara; Tümer, Zeynep; Hjortshøj, Tina D; Rønde, Gitte; Marquardt, Thorsten; Reunert, Janine; Afzal, Erum; Zamani, Mina; Azizimalamiri, Reza; Galehdari, Hamid; Nourbakhsh, Pardis; Chamanrou, Niloofar; Chung, Seo-Kyung; Suri, Mohnish; Benke, Paul J; Zaki, Maha S; Gleeson, Joseph G; Calame, Daniel G; Pehlivan, Davut; Yilmaz, Halil I; Gezdirici, Alper; Rad, Aboulfazl; Abumansour, Iman Sabri; Oprea, Gabriela; Bereketoğlu, Muhammed Burak; Banneau, Guillaume; Julia, Sophie; Zeighami, Jawaher; Ashoori, Saeed; Shariati, Gholamreza; Sedaghat, Alireza; Sabri, Alihossein; Hamid, Mohammad; Parvas, Sahere; Tajudin, Tajul Arifin; Abdullah, Uzma; Baig, Shahid Mahmood; Chung, Wendy K; Glazunova, Olga O; Sabine, Sigaudy; Cheema, Huma Arshad; Zifarelli, Giovanni; Bauer, Peter; Sidpra, Jai; Mankad, Kshitij; Vona, Barbara; Fry, Andrew E; Varshney, Gaurav K; Houlden, Henry; Fu, Dragony

A Pleiotropic and Functionally Divergent RAC3 Variant Disrupts Neurodevelopment and Impacts Organogenesis

具有多效性和功能多样性的RAC3变异体破坏神经发育并影响器官发生。

Sugawara, Ryota; Scala, Marcello; Cabet, Sara; Abel, Carine; Januel, Louis; Lesca, Gaetan; Guibaud, Laurent; Le Breton, Frédérique; Ueda, Hiroshi; Tabata, Hidenori; Ito, Hidenori; Nagata, Koh-Ichi

MPDZ Pathogenic Variants Cause Obstructive Ventriculomegaly Related to Diencephalosynapsis and Third Ventricle Atresia

MPDZ致病变异导致梗阻性脑室扩大,与间脑融合和第三脑室闭锁相关

Cabet, Sara; Ghersi-Egea, Jean-François; Khung-Savatovsky, Suonavy; Guimiot, Fabien; Putoux, Audrey; Sabatier, Isabelle; Fernandez, Carla; Raymond, Laure; Mortreux, Jérémie; Laurichesse Delmas, Hélène; Cuillier, Fabrice Eric; Ho, Fabien; Lesca, Gaetan; Alessandri, Jean-Luc; Guibaud, Laurent

Craniopharyngiomas in children: the pendulum moves again for an aggressive surgery-late complications and considerations with a recent series of 26 patients treated in Lyon

儿童颅咽管瘤:手术治疗的风向再次转变——晚期并发症及相关考量:以里昂近期治疗的26例患者为例

Beuriat, Pierre-Aurélien; Szathmari, Alexandru; Di Rocco, Federico; Villanueva, Carine; Bazus, Lucie; Cabet, Sara; Veyrie, Marina; Mottolese, Carmine

Mutations in Podospora anserina MCM1 and VelC Trigger Spontaneous Development of Barren Fruiting Bodies

鹅膏菌 MCM1 和 VelC 基因的突变可引发不育子实体的自发发育

Essadik, Insaf; Boucher, Charlie; Bobée, Cécilia; Cabet, Éva; Gautier, Valérie; Lalucque, Hervé; Silar, Philippe; Chapeland-Leclerc, Florence; Ruprich-Robert, Gwenaël

Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy

扩展CHD2相关脑病的突变图谱和临床表型

Clara-Hwang, Angela; Stefani, Stefani; Lau, Tracy; Scala, Marcello; Aynekin, Busra; Bernardo, Pia; Madia, Francesca; Bakhtadze, Sophia; Kaiyrzhanov, Rauan; Maroofian, Reza; Zara, Federico; Srinivasan, Varunvenkat M; Gowda, Vykuntaraju; Guliyeva, Ulviyya; Montavont, Alexandra; Poulat, Anne-Lise; Güleç, Ayten; Berger, Colette; Ville, Dorothee M; de Bellescize, Julitta; Cabet, Sara; Wonneberger, Antje; Schulz, Alexander; Rodriguez-Palmero, Agusti; Chatron, Nicolas; Lesca, Gaetan; Per, Hüseyin; Goel, Himanshu; Brown, Janis; Frey, Tanja; Steindl, Katharina; Rauch, Anita; Severino, Mariasavina; Houlden, Henry; Nicolaides, Paola; Striano, Pasquale; Efthymiou, Stephanie

Characterization of spatio-temporal dynamics of the constrained network of the filamentous fungus Podospora anserina using a geomatics-based approach

利用基于地理信息学的方法对丝状真菌鹅膏菌(Podospora anserina)受限网络的时空动态进行表征

Ledoux, Clara; Bobée, Cécilia; Cabet, Éva; David, Pascal; Filaine, Frédéric; Hachimi, Sabrina; Lalanne, Christophe; Ruprich-Robert, Gwenaël; Herbert, Éric; Chapeland-Leclerc, Florence

A Taybi-Linder syndrome-related RTTN variant impedes neural rosette formation in human cortical organoids

Taybi-Linder 综合征相关的 RTTN 变体阻碍了人类皮质类器官中神经花结的形成

Justine Guguin, Ting-Yu Chen, Silvestre Cuinat, Alicia Besson, Eloïse Bertiaux, Lucile Boutaud, Nolan Ardito, Miren Imaz Murguiondo, Sara Cabet, Virginie Hamel, Sophie Thomas, Bertrand Pain, Patrick Edery, Audrey Putoux, Tang K Tang, Sylvie Mazoyer, Marion Delous