Characterization of a Splice Variant in FLNA Associated With Periventricular Nodular Heterotopia [0.03%]
表征FLNA基因变异体与脑室周围结节异位的关系
Yiyuan Zhang,Yanru Huang,Xianjing Huang et al.
Yiyuan Zhang et al.
Background and objectives: Periventricular nodular heterotopia (PNH) is a neuronal migration disorder caused by the failure of neurons to migrate properly to the cerebral cortex, characterized predominantly by epilepsy. M...
Clinical Heterogeneity and Candidate Biomarkers in POLG-Related Mitochondrial Disease [0.03%]
POLG相关性线粒体病的临床异质性和候选生物标志物
Laura Bermejo-Guerrero,Juan Luis Restrepo-Vera,Paloma Martin-Jimenez et al.
Laura Bermejo-Guerrero et al.
Background and objectives: POLG-related disorders exhibit marked phenotypic heterogeneity and frequent clinical overlap, often leading to delayed diagnosis. A precise delineation of their clinical spectrum, natural histor...
Plasma isomiRs as Candidate Biomarkers for Amyotrophic Lateral Sclerosis [0.03%]
血浆循环miRNA的同位素形式作为运动神经元疾病诊断标志物的候选分子
Rogan G Magee,Vivianna M Van Deerlin,Corey T McMillan et al.
Rogan G Magee et al.
Background and objectives: There are no FDA-approved diagnostic biomarkers for amyotrophic lateral sclerosis (ALS). TDP-43 is a known cofactor in the cleavage of long premature microRNAs (miRNAs) into their short, mature ...
Precision Diagnosis of Wilson Disease Using a MultiGene Panel: Insights From a Prospective Cohort Study [0.03%]
基于前瞻性队列研究的威尔森病多基因检测试验的精准诊断价值分析
Jie Lin,You-Liang Wang,Yongqiang Qu et al.
Jie Lin et al.
Background and objectives: Wilson disease (WD) is an autosomal recessive disorder of copper metabolism. Conventional genetic diagnostics are low-throughput and may miss intronic, structural, or phenocopy variants, leading...
Shoji Ichikawa,Katie Yergert,Brooklynn Gasser et al.
Shoji Ichikawa et al.
Background and objectives: Clinical genetic testing is a powerful diagnostic tool for neurologic disorders. However, its clinical utility is diminished by the large number of variants of unknown significance (VUS) detecte...
Genetically Simulated GLP-1 Receptor Agonism and Cerebral Small Vessel Disease [0.03%]
GLP-1受体激动作用的基因模拟和脑小血管病
Panagiotis Zangas,Murad Omarov,Marios K Georgakis
Panagiotis Zangas
Background and objectives: Cerebral small vessel disease (cSVD) is a common cause of stroke and dementia without available definitive treatments. Glucagon-like peptide-1 receptor (GLP-1R) agonists have revolutionized the ...
Monica H Wojcik,Vijay Ganesh
Monica H Wojcik
Investigating the Genetic Relationship Between Vitamin B12 Metabolism and Parkinson Disease [0.03%]
探究维生素B12代谢与帕金森病的遗传关系
Raphael Dering,Margarita Onvumere,Lang Liu et al.
Raphael Dering et al.
Background and objectives: Epidemiologic studies suggest that patients with Parkinson disease (PD) may have lower levels of vitamin B12 compared with healthy controls, and it was proposed that patients with PD could benef...
TSC2 GAP Domain V1646Cfs*7 Variant Alters Protein Stability and Interaction Networks in Tuberous Sclerosis Complex [0.03%]
TSC2 GAP结构域V1646Cfs*7变异改变了结节性硬化症复合体中的蛋白质稳定性和互作网络
Kagistia Hana Utami,Velda X Han,Nur Amirah Bte Mohammad Yusof et al.
Kagistia Hana Utami et al.
Objectives: Tuberous sclerosis complex (TSC) is autosomal dominant neurocutaneous disorder caused by TSC1/2 pathogenic variants. We report a child with refractory epilepsy and developmental delay who harbors a de novo TSC...
Variant Resolution Through RNA Testing and Affected Tissue Analysis in the Neurofibromatoses: A Case Series [0.03%]
通过RNA检测和受影响组织分析进行神经纤维瘤病变异解析的病例系列研究
Krista S Schatz,Carolyn D Applegate,Allan J Belzberg et al.
Krista S Schatz et al.
Objectives: This series reports 3 unrelated individuals with features of neurofibromatosis type 1 (NF1) and/or schwannomatosis (SWN) in whom variants of uncertain significance (VUSs) were resolved through RNA testing and ...