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

Metabolic reprogramming during human neuron differentiation indicates glutaminase as a key determinant in Fragile X syndrome.

人类神经元分化过程中的代谢重编程表明谷氨酰胺酶是脆性X综合征的关键决定因素。

Shah Sneha, Barnes Daniel, Liu Botao, Tseyang Tenzin, Do Thang, Bubenik Jodi L, Jung Suna, Anadolu Mina N, Ivshina Maria P, Martínez-Cerdeño Verónica, Berry-Kravis Elizabeth, Swanson Maurice S, Spinelli Jessica B, Richter Joel D

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

Cognitive dysfunction in women with the FMR1 premutation during midlife: The LASSI-L reveals curvilinear CGG-dependent risk buffered by college education

中年时期携带FMR1前突变的女性认知功能障碍:LASSI-L研究揭示了CGG重复序列依赖性风险呈曲线变化,而大学教育可缓解这种风险。

Klusek, Jessica; Gierman, Jillian; Fairchild, Amanda J; Benitez, Andreana M; Berry-Kravis, Elizabeth; Mailick, Marsha R

Short-term and Long-term Stability of the Autism Diagnostic Observation Schedule (ADOS-2) Calibrated Comparison Scores (CCS) and Classification Scores in Youth with Down Syndrome or Fragile X Syndrome with Intellectual Disability

自闭症诊断观察量表(ADOS-2)校准比较分数(CCS)和分类分数在唐氏综合征或脆性X染色体综合征伴智力障碍青少年中的短期和长期稳定性

Thurman, Angela John; Nunnally, Amanda Dimachkie; Nguyen, Vivian; Berry-Kravis, Elizabeth; Sterling, Audra; Edgin, Jamie; Hamilton, Debra; Aschkenasy, Jeannie; Abbeduto, Leonard

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

Essential tremor-like phenotype in Fragile X carrier women

脆性X染色体携带者女性的特发性震颤样表型

Hall, Deborah A; Loesch, Danuta; Svymbersky, Tyler; Berry-Kravis, Elizabeth; Ouyang, Bichun

Semantic and Syntactic Language Differences Associated with the FMR1 Premutation Genotype

与FMR1前突变基因型相关的语义和句法语言差异

Friedman, Laura; Matchin, William; Berry-Kravis, Elizabeth; Klusek, Jessica

Dysregulation of Extracellular Vesicle Concentration, MicroRNAs, and Surface Proteins in Patients With Niemann-Pick Disease Type C.

尼曼-匹克病C型患者细胞外囊泡浓度、微RNA和表面蛋白失调。

Hawthorne Sarah Catherine Bb, Sandau Ursula S, McFarland Trevor J, Berry-Kravis Elizabeth, Saugstad Julie A

Implications of the choroid plexus in Niemann-Pick disease Type C neuropathogenesis

脉络丛在尼曼-匹克病C型神经发病机制中的作用

van Gool, Raquel; Cay, Mariesa; Ren, Boyu; Brodeur, Kailey; Golden, Emma; Goodlett, Benjamin; Yang, Edward; Reilly, Tom; Hastings, Caroline; Berry-Kravis, Elizabeth M; Lee, Pui Y; Di Biase, Maria; Cropley, Vanessa; Pantelis, Christos; Velakoulis, Dennis; Shinn, Ann K; Al-Hertani, Walla; Walterfang, Mark; Upadhyay, Jaymin

Development of a Goal Attainment Scale (GAS) outcome measure for clinical interventional studies in paediatric autism

开发用于儿童自闭症临床干预研究的目标达成量表(GAS)结果指标

Staunton, Hannah; McIver, Tammy; Tillmann, Julian; Clinch, Susanne; Hanrahan, Vivienne; Ewens, Bethany; Averius, Caroline; Barsdorf, Alexandra I; Baranger, Aurelie; Berry Kravis, Elizabeth; Charman, Tony; Neerland, Haraldt; Singer, Alison T; Ventola, Pamela; Jk Williams, Zackary; Barrett, Louise