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

Characterization of liver disease in a cohort of individuals with Niemann-Pick Disease, Type C1

对一组患有尼曼-匹克病C1型患者的肝脏疾病进行特征分析

Agrawal, Neena; Bianconi, Simona; Jaeger, Rebecca; Farhat, Nicole Y; Alexander, Derek M; Sinaii, Ninet; Hadigan, Colleen; Berry-Kravis, Elizabeth; Porter, Forbes D

Optimization of systemic AAV9 gene therapy in Niemann-Pick disease, type C1 mice.

优化尼曼-匹克病 C1 型小鼠的全身性 AAV9 基因治疗。

Mylvara Avani V, Gibson Alana L, Gu Tansy, Davidson Cristin D, Incao Arturo A, Melnyk Katerina, Gembic Susan R, Pierre-Jacques Dominick, Cologna Stephanie M, Venditti Charles P, Porter Forbes D, Pavan William J

Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational Study

对患有 X 连锁肌酸转运蛋白缺乏症的男性进行纵向特征分析:一项多年观察性研究的最终结果

Miller, Judith S; Farmer, Cristan; Blair, Susan; Bianconi, Simona; Akshoomoff, Natacha; Anselm, Irina; Barshop, Bruce A; Becker, Lindsey; Bennett, Amanda E; Berry, Leandra N; Berry-Kravis, Elizabeth M; Bruchey, Aleksandra; Byars, Anna W; Cimms, Tricia; Cecil, Kim M; Covello, Maxine; Cubit, Laura S; Das, Tanvi; Davis, Robert J; Drye, Madison; Ficicioglu, Can; Fulton, John B; Goin-Kochel, Robin P; Guthrie, Whitney; Hallinan, Barbara E; Hannah-Shmouni, Fady; Gustafson, Kathryn E; Koeberl, Dwight D; Longo, Nicola; Mamak, Eva; Mercimek-Andrews, Saadet; Michalak, Claire; Porter, Forbes D; Rahhal, Samar; Rees, Linda; Spiridigliozzi, Gail A; Stone, Caitlin; Sullivan, Nancy R; Sutton, V Reid; Thomas, Rebecca P; Udhnani, Manisha; Waisbren, Susan; Xu, Michelle; Zhang, Lin; Brandabur, Melanie; Thurm, Audrey

Modulation of glutamate metabolism in Niemann-pick disease type C1 mice

尼曼-匹克病C1型小鼠谷氨酸代谢的调节

Cougnoux, Antony; Alvarez, Carolina S; Maria, Andrea Gutierrez; Hernandez, Emelin; Cawley, Niamh X; Davidson, Cristin D; Porter, Forbes D

Serum Vitamin A and Vitamin E Levels in Individuals With Smith-Lemli-Opitz Syndrome

史密斯-莱姆利-奥皮茨综合征患者的血清维生素A和维生素E水平

Bowman, Garrett R; Rahhal, Samar N; Porter, Forbes D

Convergent Validity of the Fine Motor, Speech, and Cognitive Domains of the 5-Domain Niemann-Pick Disease Type C Clinical Severity Scale

尼曼-匹克病C型临床严重程度五领域量表精细运动、言语和认知领域的聚合效度

Farmer, Cristan; Lewis, Monica; Farhat, Nicole; Robbins, Kendall P; Joseph, Lisa; Albert, Orsolya K; Bianconi, Simona; Hoffmann, Anne; Giserman-Kiss, Ivy; Alexander, Derek M; Thurm, Audrey; Porter, Forbes D; Kravis, Elizabeth Berry

Generation and characterization of human iPSC-derived NPC1 (I1061T/I10161T) i(3)Neurons as a model for NPC1 disease.

生成和表征人类 iPSC 衍生的 NPC1 (I1061T/I10161T) i(3)神经元作为 NPC1 疾病的模型。

Salhotra Shikha, Cawley Niamh X, White Christian, Kang Insung, Prabhu Anika, Davidson Cristin D, Wassif Christopher A, Porter Forbes D

Cholesterol Depletion with U18666A and Methyl-β Cyclodextrin Increased Small Molecule Permeability Across Brain Microvascular Endothelial Cells

U18666A 和甲基-β-环糊精降低胆固醇可增加脑微血管内皮细胞对小分子的通透性

Moiz, Bilal; Vargas, Viviana Alpizar; Brandon, Ken D; Sangha, Gurneet; Weber, Callie; Li, Andrew; Pepper, Tristan; Walls, Matthew; Qin, Anthony; Hart, Sara; Davidson, Cristin; Stroka, Kimberly; Porter, Forbes D; Clyne, Alisa Morss

Prevalence of Neutralizing Antibodies to AAV2 and AAV9 in Individuals with Niemann-Pick Disease, Type C1

尼曼-匹克病C型患者体内AAV2和AAV9中和抗体的流行情况

Mylvara, Avani V; Davidson, Cristin D; Alexander, Derek; Venditti, Charles P; Porter, Forbes D

Elevated Cerebrospinal Fluid Total Tau in Niemann-Pick Disease Type C1: Correlation With Clinical Severity and Response to Therapeutic Interventions

尼曼-匹克病C1型患者脑脊液总tau蛋白水平升高:与临床严重程度和治疗反应的相关性

Cawley, Niamh X; Zhou, Ruyu; Farhat, Nicole M; Iben, James; Alexander, Derek M; Luke, Rachel A; Padilla, Cameron J; Mohamed, Hibaaq O; Albert, Orsolya K; Robbins, Kendall P; Rahhal, Samar; Do, An Dang; Berry-Kravis, Elizabeth; Cologna, Stephanie M; Liu, Fang; Porter, Forbes D