Germline variants in ATM, BRCA2, other cancer predisposition and novel candidate genes are implicated in glioma risk in adult glioma patients with a familial or personal history of tumors [0.03%]
ATM、BRCA2及其他癌症易感和新的候选基因的种系变异与具有家族或个人肿瘤史的成人胶质瘤患者的发病风险相关
Frank Brand,Lily S Rose,Amir H Akbarzadeh et al.
Frank Brand et al.
Familial occurrence of gliomas has been reported in around 5% of patients. Studies on the genetic landscape of glioma predisposition are scarce. Here, leukocyte DNA of 213 adult glioma patients with a familial and/or personal tumor history ...
Genetic Creutzfeldt-Jakob disease linked to the E200K mutation: a large cohort study [0.03%]
与E200K突变相关的遗传性克雅氏病的队列研究
Brian S Appleby,Matteo Manca,Megan S Piazza et al.
Brian S Appleby et al.
Creutzfeldt-Jakob disease (CJD), the most common human prion disease, is an invariably fatal neurodegenerative disorder affecting 1.5 cases per million individuals per year. About 10-15% of the human prion diseases are caused by a pathogeni...
Comparative study of the pathology in anterior versus posterior hemispheric regions of cerebellum in essential tremor and controls [0.03%]
小脑前叶和后叶原发性震颤病理改变与对照的比较研究
Jessica B Musacchio-Perrucci,Regina T Martuscello,Sophia I Betzios et al.
Jessica B Musacchio-Perrucci et al.
Essential tremor (ET), among the most common movement disorders, is characterized by 8-12 Hz action tremor of the upper extremities. Cognitive dysfunction is increasingly recognized. Postmortem studies of anterior cerebellar cortex, which p...
Comparative Study
Acta neuropathologica. 2026 Jan 12;151(1):4. DOI:10.1007/s00401-025-02974-4 2026
Biochemical signatures of skin α-synuclein in synucleinopathies revealed by RT-QuIC assay end-product analysis [0.03%]
RT-QuIC终点产物分析揭示的人类皮肤α-突触核蛋白的生化标志物
Maria Gerasimenko,Hancun Yi,Tricia Gilliland et al.
Maria Gerasimenko et al.
Synucleinopathies, including Parkinson's disease (PD), dementia with Lewy bodies (DLB), and multiple system atrophy (MSA), share pathological accumulation of misfolded α-synuclein (αSyn) in the brain and overlapping clinical features, com...
Vasculitic fasciitis characterizes a distinct subset of vasculitic myopathy with interferon-gamma signature [0.03%]
血管性皮炎特征是一种具有干扰素-γ谱型的血管性肌病亚型
Nikolas Ruffer,Iago Pinal-Fernandez,Corinna Preusse et al.
Nikolas Ruffer et al.
Vasculitic myopathy (VM) represents a nonspecific manifestation of various vasculitic syndromes that presents with myalgia, leg tenderness, and muscle weakness. Most cases of VM develop in the context of polyarteritis nodosa (PAN), antineut...
Associations of pathologic Parkinson's disease (PD) and co-pathologies with cognitive decline and progression of parkinsonian signs in decedents with subclinical disease [0.03%]
病理帕金森病（PD）和共病与亚临床疾病去世患者认知能力下降及帕金森氏症体征进展的相关性研究
Aron S Buchman,Lei Yu,Shahram Oveisgharan et al.
Aron S Buchman et al.
To advance the nosology of pathologic Parkinson's disease (PD), we examined the associations of Lewy bodies (LBs), nigral neuronal loss (NNL), and co-pathologies with cognitive decline and progression of parkinsonian signs in older decedent...
Distinct cerebrovascular pathways underlying Alzheimer's disease-related neurodegeneration [0.03%]
不同的脑血管途径导致与阿尔茨海默病相关的神经变性
Rosaleena Mohanty,Sophia Wheatley,Konstantinos Chiotis et al.
Rosaleena Mohanty et al.
The etiology of cerebrovascular pathology is heterogeneous. Independent or synergistic role of this pathology relative to Alzheimer's disease (AD) pathology is necessary to clarify distinct neurodegenerative pathways. We evaluated the inter...
Confirmation of p-tau Ser356's association with Alzheimer's disease pathology and lowering in response to WZ4003 treatment in brain slice cultures. Reply to: "Phospho-tau Ser356 is mostly confined to pre-NFT neurons in Alzheimer's pathology" [0.03%]
p-tau Ser356与阿尔茨海默病病理改变相关及WZ4003处理后脑切片培养降低的确认。回复：“磷酸化tau蛋白Ser356主要存在于AD非缠结神经元中”
Lewis W Taylor,Elizabeth M Simzer,Lauren F P Young et al.
Lewis W Taylor et al.
Phospho-tau Ser356 is mostly confined to pre-NFT neurons in Alzheimer's pathology [0.03%]
磷酸化Tau蛋白Ser356在阿尔茨海默病病理中主要局限于出现神经纤维缠结前的神经元中
Ly Thi Huong Luu Le,Gabeen Lee,Jae Won Shin et al.
Ly Thi Huong Luu Le et al.
Probing tau citrullination in Alzheimer's disease brains and mouse models of tauopathy [0.03%]
探明Tau瓜氨酸化在阿尔茨海默病中的作用及tau病理小鼠模型研究
Huimin Liang,Jerry B Hunt Jr,Chao Ma et al.
Huimin Liang et al.
Alzheimer's disease (AD) includes a defining hallmark that correlates most closely to cognitive decline, namely misfolded tau protein. However, the "upstream" etiology and downstream clinical manifestations of tauopathies are quite diverse....