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

Antisense oligonucleotide-mediated knockdown therapy in two infants with severe KCNT1 epileptic encephalopathy

反义寡核苷酸介导的基因敲低疗法治疗两名患有严重KCNT1癫痫性脑病的婴儿

Nakayama, Tojo; El Achkar, Christelle M; Burbano, Lisseth E; Quraishi, Imran H; Wu, Jing; Li, Melody; Asami, Yutaro; Golinski, Sean R; Sherrill, Emma; Goodlett, Benjamin D; de Gusmao, Claudio M; Friedman, Danielle A; Lentucci, Claudia; Suslovitch, Victoria; Riccardi, Olivia; Faour, Kamli N W; Kuniholm, Ashley; Soucy Verran, Aubrie; Coffman, Siobhan; Ahtam, Banu; Zhao, Boxun; Chin, Diana H; DiDonato, Renata L; Hu, Chunguang A; Lopez, Edith; Hills, Sonia; Maljevic, Snezana; Tran, Helene; Bush, Lynn W; Grant, Patricia Ellen; Madsen, Joseph R; Smith, Richard S; Kaczmarek, Leonard K; Berde, Charles B; Yu, Timothy W

Antisense oligonucleotides targeting mutant Ataxin-7 restore visual function in a mouse model of spinocerebellar ataxia type 7

靶向突变型共济失调蛋白-7的反义寡核苷酸可恢复脊髓小脑性共济失调7型小鼠模型的视觉功能

Niu, Chenchen; Prakash, Thazah P; Kim, Aneeza; Quach, John L; Huryn, Laryssa A; Yang, Yuechen; Lopez, Edith; Jazayeri, Ali; Hung, Gene; Sopher, Bryce L; Brooks, Brian P; Swayze, Eric E; Bennett, C Frank; La Spada, Albert R

Mismatch repair genes Mlh1 and Mlh3 modify CAG instability in Huntington's disease mice: genome-wide and candidate approaches.

错配修复基因 Mlh1 和 Mlh3 可改变亨廷顿病小鼠的 CAG 不稳定性:全基因组和候选基因方法

Pinto Ricardo Mouro, Dragileva Ella, Kirby Andrew, Lloret Alejandro, Lopez Edith, St Claire Jason, Panigrahi Gagan B, Hou Caixia, Holloway Kim, Gillis Tammy, Guide Jolene R, Cohen Paula E, Li Guo-Min, Pearson Christopher E, Daly Mark J, Wheeler Vanessa C

A novel approach to investigate tissue-specific trinucleotide repeat instability

一种研究组织特异性三核苷酸重复序列不稳定性的新方法

Lee, Jong-Min; Zhang, Jie; Su, Andrew I; Walker, John R; Wiltshire, Tim; Kang, Kihwa; Dragileva, Ella; Gillis, Tammy; Lopez, Edith T; Boily, Marie-Josee; Cyr, Michel; Kohane, Isaac; Gusella, James F; MacDonald, Marcy E; Wheeler, Vanessa C