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

Novel lissencephaly-associated NDEL1 variant reveals distinct roles of NDE1 and NDEL1 in nucleokinesis and human cortical malformations

新型无脑畸形相关 NDEL1 变体揭示了 NDE1 和 NDEL1 在核运动和人类皮质畸形中的不同作用

Meng-Han Tsai #, Hao-Chen Ke #, Wan-Cian Lin, Fang-Shin Nian, Chia-Wei Huang, Haw-Yuan Cheng, Chi-Sin Hsu, Tiziana Granata, Chien-Hui Chang, Barbara Castellotti, Shin-Yi Lin, Fabio M Doniselli, Cheng-Ju Lu, Silvana Franceschetti, Francesca Ragona, Pei-Shan Hou, Laura Canafoglia, Chien-Yi Tung, Mei-H

Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes

进行性肌阵挛性癫痫-残留未解决病例具有明显的遗传异质性,包括多萜醇依赖性蛋白糖基化途径基因

Carolina Courage, Karen L Oliver, Eon Joo Park, Jillian M Cameron, Kariona A Grabińska, Mikko Muona, Laura Canafoglia, Antonio Gambardella, Edith Said, Zaid Afawi, Betul Baykan, Christian Brandt, Carlo di Bonaventura, Hui Bein Chew, Chiara Criscuolo, Leanne M Dibbens, Barbara Castellotti, Patrizia R

A Loss-of-Function HCN4 Mutation Associated With Familial Benign Myoclonic Epilepsy in Infancy Causes Increased Neuronal Excitability

与婴儿期家族性良性肌阵挛性癫痫相关的功能丧失型 HCN4 突变导致神经元兴奋性增加

Giulia Campostrini, Jacopo C DiFrancesco, Barbara Castellotti, Raffaella Milanesi, Tomaso Gnecchi-Ruscone, Mattia Bonzanni, Annalisa Bucchi, Mirko Baruscotti, Carlo Ferrarese, Silvana Franceschetti, Laura Canafoglia, Francesca Ragona, Elena Freri, Angelo Labate, Antonio Gambardella, Cinzia Costa, Ci

Lack of aprataxin impairs mitochondrial functions via downregulation of the APE1/NRF1/NRF2 pathway

缺乏 aprataxin 会通过下调 APE1/NRF1/NRF2 通路损害线粒体功能

Beatriz Garcia-Diaz, Emanuele Barca, Andrea Balreira, Luis C Lopez, Saba Tadesse, Sindhu Krishna, Ali Naini, Caterina Mariotti, Barbara Castellotti, Catarina M Quinzii