Developmental circuit instability in amyotrophic lateral sclerosis: from hyperexcitability to network collapse [0.03%]
肌萎缩侧索硬化中的发育性回路不稳定性：从高兴奋性到网络崩溃
Ilaria Donati Della Lunga,Letizia Cerutti,Valerio Barabino et al.
Ilaria Donati Della Lunga et al.
Amyotrophic lateral sclerosis (ALS) is traditionally viewed as a late-onset motor neuron disease, yet how cortical dysfunction originates and contributes to pathogenesis remains unresolved. In this study, we reconstruct the developmental tr...
Spider-MS: an individualized polyhedral prediction of multiple sclerosis prognosis [0.03%]
蜘蛛-MS：一种个性化的预测多发性硬化症预后的多项式模型
Carmen Tur,Silvia Susin-Calle,Susana Otero-Romero et al.
Carmen Tur et al.
Multiple sclerosis (MS) is a potentially disabling disease that shows marked variability in its severity and underlying mechanisms. Early prediction of patients at risk of specific unfavourable outcomes may be key to treatment stratificatio...
Corticostriatal connectivity in monozygotic twin pairs discordant for obsessive-compulsive disorder [0.03%]
单卵双生子在强迫症不一致中的皮质纹状体连接性研究
Jan C Beucke,Lennart May,Ibai Diez et al.
Jan C Beucke et al.
Traditional case-control studies show that obsessive-compulsive disorder (OCD) is associated with disturbances in cortico-striatal-thalamo-cortical (CSTC) brain circuits. Whether these findings represent underlying familial vulnerabilities ...
The entropic brain today [0.03%]
当下的熵脑理论
Robin L Carhart-Harris
Robin L Carhart-Harris
Introduced in 2014 and revised in 2018, the entropic brain hypothesis has accrued a wealth of supportive evidence. The hypothesis states that-along a dimension of the size of phenomenal consciousness-expansive states reliably exhibit increa...
Mapping human glymphatic compartments and putative meningeal border pathways in diseased models [0.03%]
人类糖淋巴系统及病变模型中脑膜通路的图谱测绘研究
Chia-Hung Wu,Yasutaka Fushimi,Yen-Feng Wang et al.
Chia-Hung Wu et al.
Accumulating preclinical evidence has highlighted the importance of cerebrospinal fluid (CSF) compartmentalization and transport. However, detailed structural characterization in humans remains challenging. This study utilized contrast-enha...
Restoring DSCAM expression mitigates neuronal morphology and axon guidance deficits in Down syndrome [0.03%]
恢复DSCAM表达可缓解唐氏综合征神经元形态和轴突导向缺陷
Manasi Agrawal,Nikita Kirkise,Katelyn Rygel et al.
Manasi Agrawal et al.
Down syndrome results from the triplication of human chromosome 21 and is the leading cause of intellectual disability. Down syndrome cell adhesion molecule (DSCAM) is located on human chromosome 21 and is overproduced in Down syndrome. DSC...
Septin multimer autoantibodies in severe motor neuropathy mimicking lower motor neuron disease [0.03%]
重症运动神经病模仿下运动神经元病的Septin多聚体自身抗体
Friederike A Arlt,Ramona Miske,Luise Appeltshauser et al.
Friederike A Arlt et al.
Severe neuropathies with predominant involvement of motor fibers can resemble lower motor neuron disease (LMND) phenotypes. Given the fatal prognosis of LMND, identifying underlying autoimmune syndromes is crucial to provide treatment optio...
Neural SMG7 deficiency induces autism-like behaviours via PKD1 upregulation [0.03%]
神经元SMG7缺乏通过PKD1上调诱导自闭症样行为
Yayan Pang,Aiwei Hao,Huili Han et al.
Yayan Pang et al.
Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by social communication deficits, restricted interests, and repetitive behaviors. Emerging evidence links several autism susceptibility genes to the nonsense-med...
Kv7.2 loss-of-function causes early hyperexcitability and network remodelling [0.03%]
Kv7.2功能丧失导致早期过度兴奋和网络重塑
Nina Dirkx,Marcus Kaji,Els De Vriendt et al.
Nina Dirkx et al.
Loss-of-function (LOF) variants in KCNQ2, encoding the potassium channel subunit Kv7.2, cause a spectrum of neonatal epilepsies ranging from self-limiting familial neonatal epilepsy (SeLFNE) to severe developmental and epileptic encephalopa...
White matter microstructure fingerprint of cerebral small vessel disease [0.03%]
小血管病的脑白质微观结构特征指纹图谱研究
Aurélie Bussy,Camille Cathala,Fábio Carneiro et al.
Aurélie Bussy et al.
White matter hyperintensities (WMHs) are the imaging hallmark of cerebral small vessel disease (SVD), yet their microstructural composition, spatial heterogeneity, and relationship to diffuse normal-appearing white matter (NAWM) damage and ...