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Elizabeth Berry-Kravis

Rush University Medical Center
H指数:90
被引数:2.6万

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Examining Epilepsy in Angelman Syndrome: Insights from Caregiver-Reported Data in the LADDER Database

天使综合征中癫痫的评估:来自LADDER数据库护理者报告数据的见解

2026-06-150
PRE
Long-term safety and tolerability of transdermal cannabidiol gel in children and adolescents with Fragile X syndrome (ZYN2-CL-017): an interim analysis of an ongoing open-label extension study
2025-11-180
OAAI
Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational Study

X连锁肌酸转运蛋白缺乏症男性患者的纵向特征分析:多年观察研究的最终结果

2025-11-010
OAAI
Utility of 24(S)-hydroxycholesterol as a proximal biomarker to monitor long-term intrathecal adrabetadex therapy in individuals with Niemann-Pick disease, type C1

24(S)-羟基胆固醇作为监测Niemann-Pick病C1型患者长期鞘内adrabetadex疗法的近端生物标志物的效用

2025-10-060
PRE
ROC Analysis of Biomarker Combinations in Fragile X Syndrome-Specific Clinical Trials: Evaluating Treatment Efficacy via Exploratory Biomarkers

脆性X综合征特异性临床试验中生物标志物组合的ROC分析:通过探索性生物标志物评估治疗效果

2025-08-280
OAAI
Phenotypic variation in neural sensory processing by deletion size, age, and sex in Phelan-McDermid syndrome

Phelan-McDermid综合征中,由缺失大小、年龄和性别引起的神经感觉处理表型变异

2025-08-270
OAAI
The UBE3A-ATS antisense oligonucleotide rugonersen in children with Angelman syndrome: a phase 1 trial

UBE3A-ATS反义寡核苷酸药物Rugonersen在Angelman综合征儿童中的1期临床试验

2025-07-110
PRE
Novel method for detection of UBE3A protein in CSF from individuals with Angelman syndrome

新型检测Angelman综合征患者脑脊液中UBE3A蛋白的方法

2025-05-020
PRE
Protein-truncating variants and deletions of SHANK2 are associated with autism spectrum disorder and other neurodevelopmental concerns

蛋白截短变异和SHANK2的缺失与自闭症谱系障碍及其他神经发育问题相关。

2025-04-300
OA
Prosodic Differences in Women with the FMR1 Premutation: Subtle Expression of Autism-Related Phenotypes Through Speech

女性FMR1前突变中的韵律差异:通过言语表达的与自闭症相关的表型细微表现

2025-03-110
OA
Elevated Cerebrospinal Fluid Total Tau in Niemann-Pick Disease Type C1: Correlation With Clinical Severity and Response to Therapeutic Interventions

Niemann-Pick疾病C1型患者脑脊液总Tau蛋白水平升高:与临床严重程度及治疗干预反应的相关性

2025-03-100
OAAI
Implications of the choroid plexus in Niemann-Pick disease Type C neuropathogenesis

神经黑色素-皮克病(Niemann-Pick disease Type C)神经病理发生中脉络丛的参与意义

2025-02-010
PRE