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

A murine model lacking Lyst recapitulates Chediak-Higashi syndrome with an earlier-onset neurodegenerative phenotype.

缺乏 Lyst 的小鼠模型重现了 Chediak-Higashi 综合征,并表现出更早发病的神经退行性表型

Greene Sunny, Talbert Mackenzie L, Frost F Graeme, Zerfas Patricia M, Springer Danielle, Noguchi Audrey, Morimoto Marie, Maynard Dawn, Garrett Lisa, Elliot Gene, Traver Maria, Yarnell David, Leoyklang Petcharat, Burke John D, Nicoli Elena-Raluca, Gahl William A, Introne Wendy J, Malicdan May Christine V

GM1 gangliosidosis type II: Results of a 10-year prospective study

GM1神经节苷脂沉积症II型:一项为期10年的前瞻性研究结果

D'Souza, Precilla; Farmer, Cristan; Johnston, Jean M; Han, Sangwoo T; Adams, David; Hartman, Adam L; Zein, Wadih; Huryn, Laryssa A; Solomon, Beth; King, Kelly; Jordan, Christopher P; Myles, Jennifer; Nicoli, Elena-Raluca; Rothermel, Caroline E; Mojica Algarin, Yoliann; Huang, Reyna; Quimby, Rachel; Zainab, Mosufa; Bowden, Sarah; Crowell, Anna; Buckley, Ashura; Brewer, Carmen; Regier, Debra S; Brooks, Brian P; Acosta, Maria T; Baker, Eva H; Vézina, Gilbert; Thurm, Audrey; Tifft, Cynthia J

Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature

Chediak-Higashi综合征中LYST基因突变谱:新变异体的报告及文献综述

Morimoto, Marie; Nicoli, Elena-Raluca; Kuptanon, Chulaluck; Roney, Joseph C; Serra-Vinardell, Jenny; Sharma, Prashant; Adams, David R; Gallin, John I; Holland, Steven M; Rosenzweig, Sergio D; Barbot, Jose; Ciccone, Carla; Huizing, Marjan; Toro, Camilo; Gahl, William A; Introne, Wendy J; Malicdan, May Christine V

GM1 Gangliosidosis Type II: Results of a 10-Year Prospective Study

GM1神经节苷脂沉积症II型:一项为期10年的前瞻性研究结果

D'Souza, Precilla; Farmer, Cristan; Johnston, Jean; Han, Sangwoo T; Adams, David; Hartman, Adam L; Zein, Wadih; Huryn, Laryssa A; Solomon, Beth; King, Kelly; Jordan, Christopher; Myles, Jennifer; Nicoli, Elena-Raluca; Rothermel, Caroline E; Algarin, Yoliann Mojica; Huang, Reyna; Quimby, Rachel; Zainab, Mosufa; Bowden, Sarah; Crowell, Anna; Buckley, Ashura; Brewer, Carmen; Regier, Deborah; Brooks, Brian; Baker, Eva; Vézina, Gilbert; Thurm, Audrey; Tifft, Cynthia J

Glb1 knockout mouse model shares natural history with type II GM1 gangliosidosis patients

Glb1基因敲除小鼠模型与II型GM1神经节苷脂病患者具有相似的自然病程

Nicoli, Elena-Raluca; Huebecker, Mylene; Han, Sangwoo T; Garcia, Karolyn; Munasinghe, Jeeva; Lizak, Martin; Latour, Yvonne; Yoon, Robin; Glase, Brianna; Tyrlik, Michal; Peiravi, Morteza; Springer, Danielle; Baker, Eva H; Priestman, David; Sidhu, Rohini; Kell, Pamela; Jiang, Xuntian; Kolstad, Josephine; Kuhn, Anna Luisa; Shazeeb, Mohammed Salman; Acosta, Maria T; Proia, Richard L; Platt, Frances M; Tifft, Cynthia J

Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program

诊断与发现:来自美国国立卫生研究院未确诊疾病项目的启示

Montano, Carolina; Cassini, Thomas; Ziegler, Shira G; Boehm, Manfred; Nicoli, Elena-Raluca; Mindell, Joseph A; Soldatos, Ariane G; Manoli, Irini; Wolfe, Lynne; Macnamara, Ellen F; Malicdan, May Christine V; Adams, David R; Tifft, Cynthia J; Toro, Camilo; Gahl, William A

Assessing Putative Markers of Colorectal Cancer Stem Cells: From Colonoscopy to Gene Expression Profiling

评估结直肠癌干细胞的潜在标志物:从结肠镜检查到基因表达谱分析

Harbiyeli, Irina Florina Cherciu; Burtea, Daniela Elena; Ivan, Elena Tatiana; Streață, Ioana; Nicoli, Elena Raluca; Uscatu, Daniel; Șerbănescu, Mircea-Sebastian; Ioana, Mihai; Vilmann, Peter; Săftoiu, Adrian

GM1 Gangliosidosis-A Mini-Review

GM1神经节苷脂沉积症——简述

Nicoli, Elena-Raluca; Annunziata, Ida; d'Azzo, Alessandra; Platt, Frances M; Tifft, Cynthia J; Stepien, Karolina M

Abnormal LAMP1 glycosylation may play a role in Niemann-Pick disease, type C pathology.

LAMP1 糖基化异常可能在尼曼-匹克病 C 型病理中发挥作用

Cawley Niamh X, Sojka Caitlin, Cougnoux Antony, Lyons Anna T, Nicoli Elena-Raluca, Wassif Christopher A, Porter Forbes D

Chediak-Higashi syndrome: a review of the past, present, and future

切迪亚克-希加西综合征:过去、现在和未来的回顾

Sharma, Prashant; Nicoli, Elena-Raluca; Serra-Vinardell, Jenny; Morimoto, Marie; Toro, Camilo; Malicdan, May Christine V; Introne, Wendy J