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

Phenotypic expansion of CALM1/2-associated disorders to include neurologic phenotypes without arrhythmia

CALM1/2相关疾病的表型扩展,包括不伴有心律失常的神经系统表型

Hoang, Hieu D; Spillmann, Rebecca C; Wegner, Daniel J; Tedesco, Maria G; Brohus, Malene; Novelli, Antonio; Stregapede, Fabrizia; Rogaia, Daniela; Troiani, Stefania; Lesinski, Jacob; Yuan, Weimin; Fielder, Sara M; Zhang, Bo; Morrison, Stephanie; Regmi, Suk; Foti, Miryam R S; Baldridge, Dustin; Silverman, Gary A; Shea, Patrick; Dickson, Patricia; Wambach, Jennifer A; Overgaard, Michael T; Jensen, Helene H; Olsen, Anders; Prontera, Paolo; Shashi, Vandana; Pak, Stephen C; Schedl, Tim

Null Mutant mig-15(udn323) Shows Touch Receptor Neuron Migration Defects in C. elegans

线虫中 mig-15(udn323) 缺失突变体表现出触觉感受器神经元迁移缺陷

DaCunha, Sara; Silverman, Gary A; Schedl, Tim; Pak, Stephen C; Fielder, Sara M; Penny, Gervette M

Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.

显性负性 ATP5F1A 变体破坏氧化磷酸化,导致神经系统疾病

Fielder Sara M, Friederich Marisa W, Hock Daniella H, Zhang Jessie R, Valin Liana M, Rosenfeld Jill A, Booth Kevin T A, Brown Natasha J, Rius Rocio, Sharma Tanavi, Semcesen Liana N, Worley Kim C, Burrage Lindsay C, Treat Kayla, Samson Tara, Govert Sarah, DaCunha Sara, Yuan Weimin, Chen Jian, Lesinski Jacob, Hoang Hieu, Morrison Stephanie A, Ladha Farah A, Van Hove Roxanne A, Michel Cole R, Reisdorph Richard, Tycksen Eric, Baldridge Dustin, Silverman Gary A, Soler-Alfonso Claudia, Conboy Erin, Vetrini Francesco, Emrick Lisa, Craigen William J, Sykes Stephen M, Stroud David A, Van Hove Johan L K, Schedl Tim, Pak Stephen C

A fluorescent reporter for rapid assessment of autophagic flux reveals unique autophagy signatures during C. elegans post-embryonic development and identifies compounds that modulate autophagy.

一种用于快速评估自噬通量的荧光报告分子揭示了秀丽隐杆线虫胚胎发育后独特的自噬特征,并鉴定了调节自噬的化合物

Dawson Zachary D, Sundaramoorthi Hemalatha, Regmi Suk, Zhang Bo, Morrison Stephanie, Fielder Sara M, Zhang Jessie R, Hoang Hieu, Perlmutter David H, Luke Cliff J, Silverman Gary A, Pak Stephen C

Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delay

对与小头畸形、癫痫和发育迟缓相关的PPP5C基因新发变异进行功能分析

Fielder, Sara M; Rosenfeld, Jill A; Burrage, Lindsay C; Emrick, Lisa; Lalani, Seema; Attali, Ruben; Bembenek, Joshua N; Hoang, Hieu; Baldridge, Dustin; Silverman, Gary A; Schedl, Tim; Pak, Stephen C