Genetic Landscape and Diagnostic Outcomes of UK Patients With Congenital Myopathies and Muscular Dystrophies Over a 10-Year Period [0.03%]
Gianpaolo Cicala,Jo Mccauley,Rahul Phadke et al.
Gianpaolo Cicala et al.
Background and objectives: Congenital myopathies (CMYOs) and congenital muscular dystrophies (CMDs) are rare, clinically and genetically heterogeneous neuromuscular conditions characterized by muscle weakness, usually wit...
Consequences of the Novel ALS-Associated KIF5A Variant c.2993-6C > A for Exon 27 Splicing and Axonal Transport of SFPQ [0.03%]
Guy A Rouleau,Ziqi Yu,Jay P Ross et al.
Guy A Rouleau et al.
Background and objectives: Recent studies have identified variants in the kinesin family member 5A (KIF5A) gene that predispose to amyotrophic lateral sclerosis (ALS). These ALS-linked KIF5A variants lead to the exclusion...
Sex-Based Differences in Disease Burden and Phenotype in CADASIL: A Multicenter Study of 368 Korean Patients [0.03%]
韩国多中心CADASIL患者队列中的性别差异：368例患者的疾病负担和表型特征分析
Joong-Goo Kim,Jay Chol Choi,Chul-Hoo Kang et al.
Joong-Goo Kim et al.
Background and objectives: Previous studies have reported mixed findings regarding sex differences in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), with some indicat...
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