Cardiovascular Exercise Drives Neuroprotection in a Mouse Model of Spinocerebellar Ataxia 1 Via Rescue of Aberrant Splicing [0.03%]
有氧运动通过纠正异常剪接在小鼠脊髓小脑共济失调1型神经保护中的作用机制研究
Isabel Soto,Michael Bonomo,Brianna S Nelthrope et al.
Isabel Soto et al.
Objective: Spinocerebellar ataxia 1 (SCA1) is a fatal hereditary neurodegenerative disorder with no approved therapies, and gene-targeting strategies have thus far failed in clinical trials. Exercise remains the only inte...
Maria Chiara Pantuliano,Friederike A Arlt,Naomi Arenson et al.
Maria Chiara Pantuliano et al.
Gephyrin is a postsynaptic scaffold protein essential for inhibitory neurotransmission. Gephyrin-immunoglobulin G (IgG) was reported, decades ago, in a single case of paraneoplastic stiff-person-like syndrome, but its broader clinical relev...
Wan Zhu,Jin Zhou,Rui Hu et al.
Wan Zhu et al.
Speech Biomarkers for Quantifying Effects of Subthalamic Deep Brain Stimulation in Parkinson's Disease [0.03%]
帕金森病丘脑底核深部电刺激作用的语音生物标志物量化研究
Petr Krýže,Mário Sousa,Vojtěch Illner et al.
Petr Krýže et al.
Objective: Dysarthria is one of the most common and disabling side effects of subthalamic nucleus deep brain stimulation (STN-DBS) in Parkinson's disease (PD). Stimulation often exacerbates speech dysfunction beyond the e...
Monoallelic POLR3A Variants Cause Early-Onset Peripheral Neuropathy [0.03%]
POLR3A单等位基因变异可导致早发性周围神经病
Luiza L P Ramos,Jevin M Parmar,Robin Wijngaard et al.
Luiza L P Ramos et al.
Objective: Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported i...
Levetiracetam for Seizure Prophylaxis after Traumatic Brain Injury: A Severity-Stratified Cohort Study of 51,000 Patients [0.03%]
左乙拉西坦预防颅脑损伤后的癫痫发作：一项针对51000例患者的分层队列研究
Isaac B Thorman,Ariel Sacknovitz,Austin G Li et al.
Isaac B Thorman et al.
Objectives: The objective of this study was to evaluate the effectiveness and adverse effect profile of prophylactic levetiracetam in preventing epilepsy after traumatic brain injury (TBI). ...
Demographic Confounding and Model Robustness in the Prognostic Evaluation of NMDAR Encephalitis Glycoprofiles [0.03%]
NMDAR脑炎糖蛋白谱系预后评估的统计学偏倚及模型稳健性问题
Aman Ullah,Muhammad Mustafa Khan,Abdullah Abdullah et al.
Aman Ullah et al.
Plasma Amyloid Beta and Tau Associations with Cerebral Amyloid Angiopathy Presence and Severity [0.03%]
血浆淀粉样蛋白β和tau与脑淀粉样血管病的存在和严重程度的相关性
Francesco Bax,Lei Liu,Thijs Wijnzen van Harten et al.
Francesco Bax et al.
Objective: The aim was to determine whether plasma amyloid beta (Aβ) Aβ37, Aβ40, Aβ42, and p-tau217 differ in cerebral amyloid angiopathy (CAA) from controls and associate with specific magnetic resonance imaging (MRI...
Ammar Jumah,Miranda Allen,Digvijaya D Navalkele
Ammar Jumah
Idiopathic Intracranial Hypertension Is Characterized by a Distinct Proteomic Profile [0.03%]
特发性颅内高压具有特征性的蛋白质组学谱型
Santosh D Bhosale,Arkadiusz Nawrocki,Johanne J Korsbæk et al.
Santosh D Bhosale et al.
Objectives: The pathophysiology of idiopathic intracranial hypertension (IIH) is poorly understood and disease-specific biomarkers are lacking. We aimed to shed light on IIH pathophysiology and identify disease-specific b...