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

Mislocalization of KCNQ2 Channels as a Pathogenic Mechanism in KCNQ2 Developmental and Epileptic Encephalopathy

KCNQ2通道错位是KCNQ2发育性和癫痫性脑病的一种致病机制

Springer, Kristen; Soh, Heun; Paz Zavala, Raquel; Varghese, Nissi; Lutz, Cathleen; Zuberi, Aamir R; Jackson, Alexander C; Tzingounis, Anastasios V

Sod1 trisomy causes ENS developmental defects and susceptibility to Hirschsprung disease via neuronal Ret suppression and glial remodeling

Sod1三体性通过抑制神经元Ret信号通路和神经胶质细胞重塑,导致肠神经系统发育缺陷和易患先天性巨结肠症。

Grullon, Gabriel; Rollins, Jarod; Wilkes, Lauren; Zuberi, Aamir; Chakravarti, Aravinda; Chatterjee, Sumantra

Synaptic dysregulation in a mouse model of GRIN2D developmental and epileptic encephalopathy

GRIN2D发育和癫痫性脑病小鼠模型中的突触功能紊乱

Teoh, JiaJie; Simko, Jane; Camp, Chad R; Liu, Christine J; Wang, Wanqi; Williams, Damian J; Ma, Liang; Soundararajan, Divyalakshmi; Martin, Caryn; Taylor, Noah K; François, Ekniel; Petri, Sabrina; Kanber, Ayla; Ravichandra, Aishwarya; Pero, Maria Elena; Bartolini, Francesca; Swayne, Theresa C; Lutz, Cathleen M; Zuberi, Aamir; Rubinstein, Moran; Hausman-Kedem, Moran; Yuan, Hongjie; Gelinas, Jennifer N; Sands, Tristan T; Harper, Scott Q; Traynelis, Stephen F; Makinson, Christopher D; Frankel, Wayne N

SUN-055 Treading the Unknown Path: Tackling a Rare Form of Cushing Disease

SUN-055 踏上未知之路:攻克一种罕见的库欣病

Abreo, Timothy J; Thompson, Emma C; Madabushi, Anuraag; Park, Kristen L; Soh, Heun; Varghese, Nissi; Vanoye, Carlos G; Springer, Kristen; Johnson, Jim; Sims, Scotty; Ji, Zhigang; Chavez, Ana G; Jankovic, Miranda J; Habte, Bereket; Zuberi, Aamir R; Lutz, Cathleen M; Wang, Zhao; Krishnan, Vaishnav; Dudler, Lisa; Einsele-Scholz, Stephanie; Noebels, Jeffrey L; George, Alfred L; Maheshwari, Atul; Tzingounis, Anastasios; Cooper, Edward C; Bang, Neha; Diab, Mousab; Lim, Jonea

Alternating hemiplegia of childhood associated mutations in Atp1a3 reveal diverse neurological alterations in mice

儿童交替性偏瘫与Atp1a3基因突变相关,揭示了小鼠神经系统多种改变。

Terrey, Markus; Krivoshein, Georgii; Adamson, Scott I; Arystarkhova, Elena; Anderson, Laura; Szwec, John; McKee, Shelby; Jones, Holly; Perkins, Sara; Selvam, Vijay; Piec, Pierre-Alexandre; Chhaya, Dweet; Dehn, Ari; Zuberi, Aamir; Murray, Stephen A; Morsci, Natalia S; Sweadner, Kathleen J; Knowles, David A; Tolner, Else A; van den Maagdenberg, Arn M J M; Lutz, Cathleen M

Neurological, metabolic and inflammatory phenotypes in a mouse model of ECHS1 deficiency

ECHS1缺陷小鼠模型中的神经系统、代谢和炎症表型

Eller, Meghan M; Zuberi, Aamir R; Fu, Xiaorong; Montalbano, Alina P; Nitschke, Felix; Burgess, Shawn C; Lutz, Cat; Bailey, Rachel M

Stathmin-2 loss leads to neurofilament-dependent axonal collapse driving motor and sensory denervation

Stathmin-2 的缺失会导致神经丝依赖性轴突塌陷,进而引发运动和感觉神经支配丧失。

López-Erauskin, Jone; Bravo-Hernandez, Mariana; Presa, Maximiliano; Baughn, Michael W; Melamed, Ze'ev; Beccari, Melinda S; Agra de Almeida Quadros, Ana Rita; Arnold-Garcia, Olatz; Zuberi, Aamir; Ling, Karen; Platoshyn, Oleksandr; Niño-Jara, Elkin; Ndayambaje, I Sandra; McAlonis-Downes, Melissa; Cabrera, Larissa; Artates, Jonathan W; Ryan, Jennifer; Hermann, Anita; Ravits, John; Bennett, C Frank; Jafar-Nejad, Paymaan; Rigo, Frank; Marsala, Martin; Lutz, Cathleen M; Cleveland, Don W; Lagier-Tourenne, Clotilde

Gain-of-function mutations of TRPV4 acting in endothelial cells drive blood-CNS barrier breakdown and motor neuron degeneration in mice

小鼠内皮细胞中TRPV4的功能获得性突变会导致血脑屏障破坏和运动神经元退化。

Sullivan, Jeremy M; Bagnell, Anna M; Alevy, Jonathan; Avila, Elvia Mena; Mihaljević, Ljubica; Saavedra-Rivera, Pamela C; Kong, Lingling; Huh, Jennifer S; McCray, Brett A; Aisenberg, William H; Zuberi, Aamir R; Bogdanik, Laurent; Lutz, Cathleen M; Qiu, Zhaozhu; Quinlan, Katharina A; Searson, Peter C; Sumner, Charlotte J

Impaired axon initial segment structure and function in a model of ARHGEF9 developmental and epileptic encephalopathy.

ARHGEF9 发育性和癫痫性脑病模型中轴突起始段结构和功能受损

Wang Wanqi, Williams Damian J, Teoh Jia Jie, Soundararajan Divyalakshmi, Zuberi Aamir, Lutz Cathleen M, Frankel Wayne N, Makinson Christopher D

Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy

Notch配体Jagged1的显性突变会导致周围神经病变

Sullivan, Jeremy M; Motley, William W; Johnson, Janel O; Aisenberg, William H; Marshall, Katherine L; Barwick, Katy Es; Kong, Lingling; Huh, Jennifer S; Saavedra-Rivera, Pamela C; McEntagart, Meriel M; Marion, Marie-Helene; Hicklin, Lucy A; Modarres, Hamid; Baple, Emma L; Farah, Mohamed H; Zuberi, Aamir R; Lutz, Cathleen M; Gaudet, Rachelle; Traynor, Bryan J; Crosby, Andrew H; Sumner, Charlotte J