Complicated Spastic Paraparesis: Study of a Patient With a De Novo Pathogenic Variant in ELOVL1 [0.03%]
复杂性痉挛性轻偏瘫：ELOVL1基因新发致病突变病例研究
Ylenia Vaia,Eleonora Mura,Fabio Bruschi et al.
Ylenia Vaia et al.
Very long-chain fatty acid elongase-1 (ELOVL1) is essential for fatty acid elongation and is widely expressed in numerous tissues, including the central nervous system, being involved in the elongation of very long-chain fatty acids (VLCFAs...
Sleep Disturbances and Behavioural Phenotypes in Children With Autism Spectrum Disorder: A Comparative Study With Typically Developing Peers [0.03%]
孤独症谱系障碍儿童睡眠问题及行为表型与普通发展匹配儿羣的比较研究
Doga Sevincok,Cansu Mercan Isik,Mutlu Muhammed Ozbek et al.
Doga Sevincok et al.
Objectives: The primary objective of this study was to investigate the relationship between different types of sleep problems and specific behavioural difficulties in children and adolescents with autism spectrum disorder...
Oculomotor Dysfunctions in Nonreading Tasks in Children With Dyslexia: Saccadic and Optokinetic Findings [0.03%]
阅读障碍儿童在非阅读任务中的眼动功能障碍：快相和追踪眼动发现
Meliksah Safa Uçok,Mustafa Dinçer,Ceren Karaçaylı et al.
Meliksah Safa Uçok et al.
Background: Dyslexia has been associated with atypical eye-movement control, but whether such differences arise only during reading or reflect broader oculomotor control remains debated. ...
Evaluation of c26:0-Lyso-Phosphatidylcholine Levels in X-Linked Adrenoleukodystrophy: Diagnosis and Biochemical Monitoring [0.03%]
X连锁肾上腺脑白质营养不良的诊断和生化监测中C26：0-lyso磷脂酰胆碱水平的评估
Gilian Guerreiro,Marion Deon,Graziela Becker et al.
Gilian Guerreiro et al.
Introduction: X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder, caused by ABCD1 mutations that impair very long-chain fatty acid (VLCFA) degradation, leading to progressive neurological damage...
Microglia Regulatory and T-Helper Cytokine Profiles in Autism Spectrum Disorder [0.03%]
自闭症谱系障碍中的小胶质细胞调节和T-helper细胞因子谱型
Zehra Akan,Fatma Subaşı Turgut,Masum Öztürk et al.
Zehra Akan et al.
Objective: This study aimed to evaluate serum levels of the microglia-regulating cytokines IL-34 and CSF-1, as well as T-helper cytokines IL-12, IFN-γ, IL-4, IL-10, TGF-β, IL-17 and IL-23, in individuals with autism and...
Genetic Associations and Interactions Between the NR3C1 (GR) and NR3C2 (MR) Genes in Schizophrenia [0.03%]
NR3C1（GR）和NR3C2（MR）基因在精神分裂症中的遗传关联及互作
Lili Qing,Tiantian Zou,Li Zhou et al.
Lili Qing et al.
Objective: Glucocorticoid receptor (GR, encoded by NR3C1) and mineralocorticoid receptor (MR, encoded by NR3C2) are critical regulators of the hypothalamic-pituitary-adrenal (HPA) axis and stress response, both of which a...
The Impact of 8p23 Copy Number Variations on Neurodevelopmental Aetiology: A Focus on Rare Deletions [0.03%]
8p23拷贝数变异对神经发育病因的影响：罕见缺失的重点研究
Ahmet Güleç,Hamide Betul Gerik-Celebi
Ahmet Güleç
Objective: Copy number variations (CNVs) involving the 8p23 chromosomal region have been increasingly associated with neurodevelopmental disorders (NDDs); however, the distal 8p23.1-p23.3 subregion remains poorly characte...
The Reelin-L1CAM Signalling Axis: Orchestrating Molecular Synergy in Neural Repair and Regeneration [0.03%]
Reelin-L1CAM信号轴：在神经修复和再生中协调分子协同作用
Sudhanshu Sahu
Sudhanshu Sahu
The roles of Reelin and L1 cell adhesion molecule (L1CAM)-long regarded as separate regulators of neuronal migration and axon guidance-are now understood as components of a complementary signal transduction axis with significant implication...
Testing DAT1 and DRD4 Genes in Attention Deficit Hyperactivity Disorder Using a Wide Spectrum of Neurocognitive Batteries [0.03%]
运用广泛神经认知评估量表检测注意缺陷多动障碍中的DAT1和DRD4基因
Gül Ünsel-Bolat,Hilmi Bolat,Sema Yıldırım et al.
Gül Ünsel-Bolat et al.
Attention-deficit/hyperactivity disorder (ADHD) is a neurodevelopmental condition characterized by marked heterogeneity in cognitive functioning. This study aimed to examine the associations between polymorphisms in the DAT1 and DRD4 genes ...
Autism Spectrum Disorder Caused by a Novel De Novo SCN2A Mutation: A Case Report [0.03%]
新型SCN2A新生突变所致自闭症谱系障碍1例报告
Jinghan Gao,Wenmiao Liu,Yucui Zang et al.
Jinghan Gao et al.
Autism spectrum disorder (ASD) exhibits significant genetic heterogeneity, and a large number of risk genes may eventually converge on a limited number of common pathways. Among them, SCN2A, which encodes the Nav1.2α subunit of the voltage...