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

Progression of fragile X-associated tremor/ataxia syndrome revealed by subtype and stage inference

通过亚型和分期推断揭示脆性X染色体相关震颤/共济失调综合征的进展

Morrison, Douglas Ezra; Ponzini, Matthew Dominic; Santos, Ellery R; Biag, Hazel Maridith Barlahan; Espinal, Glenda; Tassone, Flora; Rivera, Susan M; Hessl, David; Schneider, Andrea; Bourgeois, James A; Hagerman, Randi; Kim, Kyoungmi

Electroretinographic Findings in Fragile X, Premutation, and Controls: A Study of Biomarker Correlations

脆性X染色体综合征、前突变型染色体综合征和对照组的视网膜电图结果:生物标志物相关性研究

Hasan, Hasan; Biag, Hazel Maridith Barlahan; Santos, Ellery R; Randol, Jamie Leah; Ring, Robert; Tassone, Flora; Hagerman, Paul J; Hagerman, Randi Jenssen

Swallowing and choking difficulties as potential markers of FXTAS progression in FMR1 premutation carriers

吞咽和呛咳困难可能是FMR1前突变携带者FXTAS进展的潜在标志

Likhitweerawong, Narueporn; Montanaro, Federica Alice Maria; Santos, Ellery R; Wang, Jun Yi; Dejputtawat, Waralee; Narasimhan, Udayakumar; Klusek, Jessica; Maltman, Nell; Schneider, Andrea; Tassone, Flora; Hagerman, Randi J

Novel p.Arg534del Mutation and MTHFR C667T Polymorphism in Fragile X Syndrome (FXS) With Autism Spectrum Phenotype: A Case Report

脆性X综合征(FXS)伴自闭症谱系表型:一例病例报告,该病例报告包含新型p.Arg534del突变和MTHFR C667T多态性。

Hasan, Hasan; Santos, Ellery R; Amrei, Seyedeh Ala Mokhtabad; Tassone, Flora; Randol, Jamie Leah; Hagerman, Paul; Hagerman, Randi J

Tophaceous gout of the nose in a male FMR1 premutation carrier

男性FMR1前突变携带者鼻部痛风石

Tang, Si Jie; Giri, Shanthi; Pahlavan, Nima; Han, Sophia H; Santos, Ellery R; Espinal, Glenda; Aishworiya, Ramkumar; Schneider, Andrea; Hessl, David; Rivera, Susan M; Hagerman, Randi J