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

Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy

PIK3C2B基因突变导致的脂质信号传导缺陷是局灶性癫痫的根本原因。

Luca Gozzelino ,Gaga Kochlamazashvili ,Sara Baldassari ,Albert Ian Mackintosh ,Laura Licchetta ,Emanuela Iovino ,Yu Chi Liu ,Caitlin A Bennett ,Mark F Bennett ,John A Damiano ,Gábor Zsurka ,Caterina Marconi ,Tania Giangregorio ,Pamela Magini ,Marijn Kuijpers ,Tanja Maritzen ,Giuseppe Danilo Norata ,Stéphanie Baulac ,Laura Canafoglia ,Marco Seri ,Paolo Tinuper ,Ingrid E Scheffer ,Melanie Bahlo ,Samuel F Berkovic ,Michael S Hildebrand ,Wolfram S Kunz ,Lucio Giordano ,Francesca Bisulli ,Miriam Martini ,Volker Haucke ,Emilio Hirsch ,Tommaso Pippucci

Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions

散发性下丘脑错构瘤是一种具有躯体和双等位基因作用的纤毛病

Timothy E Green, Joshua E Motelow, Mark F Bennett, Zimeng Ye, Caitlin A Bennett, Nicole G Griffin, John A Damiano, Richard J Leventer, Jeremy L Freeman, A Simon Harvey, Paul J Lockhart, Lynette G Sadleir, Amber Boys, Ingrid E Scheffer, Heather Major, Benjamin W Darbro, Melanie Bahlo, David B Goldste

Evidence for a Dual-Pathway, 2-Hit Genetic Model for Focal Cortical Dysplasia and Epilepsy

局灶性皮质发育不良和癫痫的双通路、2 次打击遗传模型的证据

Mark F Bennett, Michael S Hildebrand, Sayaka Kayumi, Mark A Corbett, Sachin Gupta, Zimeng Ye, Michael Krivanek, Rosemary Burgess, Olivia J Henry, John A Damiano, Amber Boys, Jozef Gécz, Melanie Bahlo, Ingrid E Scheffer, Samuel F Berkovic

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

与 2 号染色体相关的家族性成人肌阵挛性癫痫中 STARD7 内含子 ATTTC 重复扩增

Mark A Corbett, Thessa Kroes, Liana Veneziano, Mark F Bennett, Rahel Florian, Amy L Schneider, Antonietta Coppola, Laura Licchetta, Silvana Franceschetti, Antonio Suppa, Aaron Wenger, Davide Mei, Manuela Pendziwiat, Sabine Kaya, Massimo Delledonne, Rachel Straussberg, Luciano Xumerle, Brigid Regan,