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

Cardiac noradrenergic deficiency revealed by 18F-dopamine positron emission tomography identifies preclinical central Lewy body diseases

18F-多巴胺正电子发射断层扫描揭示的心脏去甲肾上腺素能缺乏症可识别临床前中枢路易体病

Goldstein, David S; Holmes, Courtney; Sullivan, Patti; Lopez, Grisel; Gelsomino, Janna; Moore, Sarah; Isonaka, Risa; Wu, Tianxia; Sharabi, Yehonatan

Consensus Guidance for Genetic Counseling in GBA1 Variants: A Focus on Parkinson's Disease

GBA1基因变异遗传咨询共识指南:以帕金森病为例

Vieira, Sophia R L; Mezabrovschi, Roxana; Toffoli, Marco; Del Pozo, Sara Lucas; Menozzi, Elisa; Mullin, Stephen; Yalkic, Selen; Limbachiya, Naomi; Koletsi, Sofia; Loefflad, Nadine; Lopez, Grisel J; Gan-Or, Ziv; Alcalay, Roy N; Sidransky, Ellen; Schapira, Anthony H V

Phenotypic consequences of GBA1 pathological variant R463C (p.R502C)

GBA1致病变异R463C(p.R502C)的表型后果

Ryan, Emory; Nishimura, Samantha; Lopez, Grisel; Tayebi, Nahid; Sidransky, Ellen

Polygenic Parkinson's Disease Genetic Risk Score as Risk Modifier of Parkinsonism in Gaucher Disease

多基因帕金森病遗传风险评分作为戈谢病帕金森症的风险修饰因子

Blauwendraat, Cornelis; Tayebi, Nahid; Woo, Elizabeth Geena; Lopez, Grisel; Fierro, Luca; Toffoli, Marco; Limbachiya, Naomi; Hughes, Derralynn; Pitz, Vanessa; Patel, Dhairya; Vitale, Dan; Koretsky, Mathew J; Hernandez, Dena; Real, Raquel; Alcalay, Roy N; Nalls, Mike A; Morris, Huw R; Schapira, Anthony H V; Balwani, Manisha; Sidransky, Ellen

Rapid-Onset Dystonia and Parkinsonism in a Patient With Gaucher Disease

戈谢病患者出现快速起病的肌张力障碍和帕金森综合征

Hertz, Ellen; Lopez, Grisel; Lichtenberg, Jens; Haubenberger, Dietrich; Tayebi, Nahid; Hallett, Mark; Sidransky, Ellen

An exploration of knowledge, risk perceptions, and communication in a family with multiple genetic risks for Parkinson's disease

一项关于具有多种帕金森病遗传风险的家庭的知识、风险认知和沟通的探索

Daykin, Emily C; Poffenberger, Chelsie N; Do, Jenny; Ryan, Emory; Tayebi, Nahid; Sidransky, Ellen; Lopez, Grisel; Hadley, Donald W

Reply to: "Overlapping Ranges in Levels Indicate That Hexosylsphingosine Is Not a Clinically Relevant Biomarker for GBA1-Associated Parkinson's Disease"

回复:“水平范围重叠表明己糖基鞘氨醇并非GBA1相关帕金森病的临床相关生物标志物”

Gleason, Adenrele M; Tayebi, Nahid; Lopez, Grisel J; Sidransky, Ellen

Neuropathological Features of Gaucher Disease and Gaucher Disease with Parkinsonism

戈谢病和伴有帕金森综合征的戈谢病的神经病理学特征

Furderer, Makaila L; Hertz, Ellen; Lopez, Grisel J; Sidransky, Ellen

Imaging and genetics in Parkinson's disease: assessment of the GBA1 mutation

帕金森病影像学和遗传学:GBA1突变的评估

Ghatti, Sweta; Yoon, Esther; Lopez, Grisel; Ehrlich, Debra; Horovitz, Silvina G

Longitudinal evaluation of olfactory function in individuals with Gaucher disease and GBA1 mutation carriers with and without Parkinson's disease

对患有戈谢病和GBA1基因突变携带者(伴或不伴帕金森病)的个体进行嗅觉功能的纵向评估

Lopez, Grisel J; Lichtenberg, Jens; Tayebi, Nahid; Ryan, Emory; Lecker, Abigail L; Sidransky, Ellen