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

A novel PSEN1 mutation (I238M) associated with early-onset Alzheimer's disease in an African-American woman

一名非裔美国女性的早发性阿尔茨海默病与一种新的PSEN1基因突变(I238M)相关

Ting, Simon Kang Seng; Benzinger, Tammie; Kepe, Vladimir; Fagan, Anne; Coppola, Giovanni; Porter, Verna; Hecimovic, Silva; Chakraverty, Suma; Alvarez-Retuerto, Ana Isabel; Goate, Alison; Ringman, John M

The impact of the availability of prevention studies on the desire to undergo predictive testing in persons at risk for autosomal dominant Alzheimer's disease

预防性研究的可及性对有常染色体显性遗传阿尔茨海默病风险人群进行预测性检测意愿的影响

Hooper, Megan; Grill, Joshua D; Rodriguez-Agudelo, Yaneth; Medina, Luis D; Fox, Michelle; Alvarez-Retuerto, Ana Isabel; Wharton, David; Brook, Jenny; Ringman, John M

Altered functional connectivity in frontal lobe circuits is associated with variation in the autism risk gene CNTNAP2

额叶回路功能连接的改变与自闭症风险基因 CNTNAP2 的变异有关。

Scott-Van Zeeland, Ashley A; Abrahams, Brett S; Alvarez-Retuerto, Ana I; Sonnenblick, Lisa I; Rudie, Jeffrey D; Ghahremani, Dara; Mumford, Jeanette A; Poldrack, Russell A; Dapretto, Mirella; Geschwind, Daniel H; Bookheimer, Susan Y

Association of common variants in the Joubert syndrome gene (AHI1) with autism

Joubert综合征基因(AHI1)常见变异与自闭症的关联

Alvarez Retuerto, Ana I; Cantor, Rita M; Gleeson, Joseph G; Ustaszewska, Anna; Schackwitz, Wendy S; Pennacchio, Len A; Geschwind, Daniel H

Replication of autism linkage: fine-mapping peak at 17q21

自闭症关联性的重复验证:17q21 区域的精细定位峰值

Cantor, Rita M; Kono, Naoko; Duvall, Jackie A; Alvarez-Retuerto, Ana; Stone, Jennifer L; Alarcón, Maricela; Nelson, Stanley F; Geschwind, Daniel H