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

Modelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCs

使用患者来源的 iPSC 模拟 X 连锁远端遗传性运动神经病的发病机制

Gonzalo Perez-Siles, Anthony Cutrupi, Melina Ellis, Jakob Kuriakose, Sharon La Fontaine, Di Mao, Motonari Uesugi, Reinaldo I Takata, Carlos E Speck-Martins, Garth Nicholson, Marina L Kennerson

Early-onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic COQ8A variants, including a large intragenic deletion

早发性辅酶 Q10 缺乏症与共济失调和呼吸链功能障碍有关,这是由于新的致病性 COQ8A 变异(包括大的基因内缺失)引起的

Ana Cotta, Charlotte L Alston, Sidney Baptista-Junior, Julia F Paim, Elmano Carvalho, Monica M Navarro, Marie Appleton, Yi Shiau Ng, Jaquelin Valicek, Antonio L da-Cunha-Junior, Maria I Lima, Alessandra de la Rocque Ferreira, Reinaldo I Takata, Iain P Hargreaves, Gráinne S Gorman, Robert McFarland, 

Characterizing the molecular phenotype of an Atp7a(T985I) conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX)

对 X 连锁远端遗传性运动神经病 (dHMNX) 的 Atp7a(T985I) 条件性敲入小鼠模型进行分子表型表征

Perez-Siles, Gonzalo; Grant, Adrienne; Ellis, Melina; Ly, Carolyn; Kidambi, Aditi; Khalil, Mamdouh; Llanos, Roxana M; Fontaine, Sharon La; Strickland, Alleene V; Züchner, Stephan; Bermeo, Sandra; Neist, Elysia; Brennan-Speranza, Tara C; Takata, Reinaldo I; Speck-Martins, Carlos E; Mercer, Julian F B; Nicholson, Garth A; Kennerson, Marina L

Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy

铜转运蛋白基因ATP7A的错义突变会导致X连锁远端遗传性运动神经病。

Kennerson, Marina L; Nicholson, Garth A; Kaler, Stephen G; Kowalski, Bartosz; Mercer, Julian F B; Tang, Jingrong; Llanos, Roxana M; Chu, Shannon; Takata, Reinaldo I; Speck-Martins, Carlos E; Baets, Jonathan; Almeida-Souza, Leonardo; Fischer, Dirk; Timmerman, Vincent; Taylor, Philip E; Scherer, Steven S; Ferguson, Toby A; Bird, Thomas D; De Jonghe, Peter; Feely, Shawna M E; Shy, Michael E; Garbern, James Y

Rapid method for isolation of desiccation-tolerant strains and xeroprotectants

耐干燥菌株及干燥保护剂的快速分离方法

J J Narváez-Reinaldo, I Barba, J González-López, A Tunnacliffe, M Manzanera