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

Using team-based precision medicine to advance understanding of rare genetic brain disorders

利用团队协作的精准医疗技术,增进对罕见遗传性脑疾病的了解

Walkley, Steven U; Molholm, Sophie; Jordan, Bryen; Marion, Robert W; Wasserstein, Melissa

Free sialic acid storage disorder: Progress and promise

游离唾液酸贮积症:进展与前景

Huizing, Marjan; Hackbarth, Mary E; Adams, David R; Wasserstein, Melissa; Patterson, Marc C; Walkley, Steven U; Gahl, William A

Intellectual and developmental disabilities research centers: Fifty years of scientific accomplishments

智力和发育障碍研究中心:五十年的科学成就

Walkley, Steven U; Abbeduto, Leonard; Batshaw, Mark L; Bhattacharyya, Anita; Bookheimer, Susan Y; Christian, Bradley T; Constantino, John N; de Vellis, Jean; Doherty, Daniel A; Nelson, David L; Piven, Joseph; Poduri, Annapurna; Pomeroy, Scott L; Samaco, Rodney C; Zoghbi, Huda Y; Guralnick, Michael J

Current concepts in the neuropathogenesis of mucolipidosis type IV.

IV型粘脂病神经发病机制的最新概念

Boudewyn Lauren C, Walkley Steven U

Fostering collaborative research for rare genetic disease: the example of niemann-pick type C disease

促进罕见遗传病合作研究:以尼曼-匹克C型病为例

Walkley, Steven U; Davidson, Cristin D; Jacoby, Jonathan; Marella, Philip D; Ottinger, Elizabeth A; Austin, Christopher P; Porter, Forbes D; Vite, Charles H; Ory, Daniel S

A murine Niemann-Pick C1 I1061T knock-in model recapitulates the pathological features of the most prevalent human disease allele

小鼠尼曼-匹克C1 I1061T敲入模型重现了最常见人类疾病等位基因的病理特征

Praggastis, Maria; Tortelli, Brett; Zhang, Jessie; Fujiwara, Hideji; Sidhu, Rohini; Chacko, Anita; Chen, Zhouji; Chung, Chan; Lieberman, Andrew P; Sikora, Jakub; Davidson, Cristin; Walkley, Steven U; Pipalia, Nina H; Maxfield, Frederick R; Schaffer, Jean E; Ory, Daniel S

Atypical multisensory integration in Niemann-Pick type C disease - towards potential biomarkers

尼曼-匹克C型疾病中的非典型多感觉整合——探索潜在的生物标志物

Andrade, Gizely N; Molholm, Sophie; Butler, John S; Brandwein, Alice B; Walkley, Steven U; Foxe, John J

Collaborative development of 2-hydroxypropyl-β-cyclodextrin for the treatment of Niemann-Pick type C1 disease

合作开发用于治疗尼曼-匹克C1型疾病的2-羟丙基-β-环糊精

Ottinger, Elizabeth A; Kao, Mark L; Carrillo-Carrasco, Nuria; Yanjanin, Nicole; Shankar, Roopa Kanakatti; Janssen, Marjo; Brewster, Marcus; Scott, Ilona; Xu, Xin; Cradock, Jim; Terse, Pramod; Dehdashti, Seameen J; Marugan, Juan; Zheng, Wei; Portilla, Lili; Hubbs, Alan; Pavan, William J; Heiss, John; Vite, Charles H; Walkley, Steven U; Ory, Daniel S; Silber, Steven A; Porter, Forbes D; Austin, Christopher P; McKew, John C

Lysosomal membrane permeability stimulates protein aggregate formation in neurons of a lysosomal disease.

溶酶体膜通透性增加会刺激溶酶体疾病神经元中蛋白质聚集体的形成

Micsenyi Matthew C, Sikora Jakub, Stephney Gloria, Dobrenis Kostantin, Walkley Steven U

Autophagy in lysosomal storage disorders

溶酶体贮积症中的自噬

Lieberman, Andrew P; Puertollano, Rosa; Raben, Nina; Slaugenhaupt, Susan; Walkley, Steven U; Ballabio, Andrea