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

A mouse model of autosomal dominant spastic ataxia and myopathy caused by a mutation in Tuba4a

由 Tuba4a 基因突变引起的常染色体显性痉挛性共济失调和肌病的小鼠模型

Hines, Timothy J; Funke, Jonathan R; Pratt, Samia L; Rice, Alaura D; Twiss, Jeffery L; Burgess, Robert W

Evaluating the feasibility of gene replacement strategies to treat MTRFR deficiency.

评估基因替代策略治疗 MTRFR 缺乏症的可行性

Pratt Samia L, Zarate-Mendez Mariana, Koludarova Lidiia, Jansson Sonja, Airavaara Mikko, Hlushchuk Irena, Coleman David, Heffner Caleb, Horvath Rita, Battersby Brendan J, Burgess Robert W

Dominant NARS1 mutations causing axonal Charcot-Marie-Tooth disease expand NARS1-associated diseases

导致轴突型夏科-马里-图斯病(Charcot-Marie-Tooth disease)的显性NARS1突变扩大了NARS1相关疾病的范围。

Beijer, Danique; Marte, Sheila; Li, Jiaxin C; De Ridder, Willem; Chen, Jessie Z; Tadenev, Abigail L D; Miers, Kathy E; Deconinck, Tine; Macdonell, Richard; Marques, Wilson Jr; De Jonghe, Peter; Pratt, Samia L; Meyer-Schuman, Rebecca; Züchner, Stephan; Antonellis, Anthony; Burgess, Robert W; Baets, Jonathan