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

Consensus Guidelines for the Design and In Vitro Preclinical Efficacy Testing N-of-1 Exon Skipping Antisense Oligonucleotides

N-of-1外显子跳跃反义寡核苷酸的设计和体外临床前疗效测试共识指南

Aartsma-Rus, Annemieke; Garanto, Alejandro; van Roon-Mom, Willeke; McConnell, Erin M; Suslovitch, Victoria; Yan, Winston X; Watts, Jonathan K; Yu, Timothy W

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

RFX 家族转录因子破坏会导致自闭症、注意力缺陷多动障碍、智力障碍和行为失调

Holly K Harris #, Tojo Nakayama #, Jenny Lai #, Boxun Zhao, Nikoleta Argyrou, Cynthia S Gubbels, Aubrie Soucy, Casie A Genetti, Victoria Suslovitch, Lance H Rodan, George E Tiller, Gaetan Lesca, Karen W Gripp, Reza Asadollahi, Ada Hamosh, Carolyn D Applegate, Peter D Turnpenny, Marleen E H Simon, Ca