Molecular signatures and biomarker development for limbic-predominant age-related TDP-43 encephalopathy (LATE) [0.03%]
LPAGD计划的分子标志物和生物标记物开发工作组：变构Tau病和额颞叶痴呆中的TDP-43脑病（LATE）分子标志物和生物标记物研究进展
Ling Wu,Tobilola Akingbade,Peter T Nelson et al.
Ling Wu et al.
Limbic-predominant age-related TDP-43 encephalopathy (LATE) is a neurodegenerative disease marked by TDP-43 proteinopathy, affecting approximately one-third of individuals aged 80 and above. LATE neuropathological change (LATE-NC) is charac...
Molecular profiling of alpha-synuclein pathology and seeding activity in Parkinson's disease [0.03%]
帕金森病中α-突触核蛋白病理和促聚集活性的分子特征分析
Zeynep Bengisu Kaya,Danilyn Amerna,Ananya Susarla et al.
Zeynep Bengisu Kaya et al.
Parkinson's disease (PD) is neuropathologically characterized by the abnormal accumulation of fibrillar alpha-synuclein (aSyn) within selectively vulnerable neuronal populations. Although this pathological hallmark is shared across individu...
CnQuant: high-resolution chromosomal copy number profiling for precision oncology in the clinics [0.03%]
CnQuant：临床精准肿瘤学的高分辨率染色体拷贝数谱分析方法
Benjamin Maciej Freyter,Claus Hultschig,Jon Brugger et al.
Benjamin Maciej Freyter et al.
Lipofuscin accumulation in aging and CLN1 is associated with deficient de-S-acylation, lyso-mitochondrial dysfunction, and lipid dyshomeostasis [0.03%]
脂褐质积累与CLN1缺陷相关的去棕榈酰化、溶酶体线粒体功能障碍和脂质稳态失调
Sofia Massaro Tieze,Alexander Esqueda,Rachel McAllister et al.
Sofia Massaro Tieze et al.
Lipofuscin is an autofluorescent material that accrues in brain tissues with age and in Neuronal Ceroid Lipofuscinosis (NCL), a neurodegenerative disease with pediatric onset. The distribution, composition, and organellar origin of lipofusc...
Idiotypic-susceptible Alzheimer's disease: a clinically relevant, neurofibrillary tangle subtype [0.03%]
idiotypic-易感的阿尔茨海默病：一种具有临床意义的神经原纤维缠结亚型
John L Robinson,Helen Cai,Nicholas J Loh et al.
John L Robinson et al.
Neurofibrillary tangles in Alzheimer's disease (AD) stereotypically spread from the medial temporal lobe to association areas and then to idiotypic areas (i.e., primary motor, somatosensory, auditory, and visual). Previous studies have repo...
Pathogenic IgG from long COVID patients with neurological sequelae triggers sensitive but not cognitive impairments upon transfer into mice [0.03%]
患有神经后遗症的长新冠患者的致病性IgG触发敏感但不会导致认知障碍转移至小鼠体内
Margaux Mignolet,Catherine Deroux,Thomas Florkin et al.
Margaux Mignolet et al.
Approximately 30% of long COVID patients still experience neurological symptoms (brain fog, pain, chronic fatigue) more than 4 months after the onset of COVID-19. This condition, known as 'neurological long COVID', remains poorly understood...
The hypoxia-inflammation cycle as a key mechanism of smoldering inflammation and progression in multiple sclerosis [0.03%]
低氧炎症循环在病灶持续存在的多发性硬化症中的作用机制研究
M Missaglia,M Filippi,F Esposito et al.
M Missaglia et al.
Disease progression in multiple sclerosis (MS) remains a major unmet clinical challenge, as it is driven by pathogenic mechanisms that are poorly targeted by currently available disease-modifying treatments. Whereas acute focal inflammation...
A severe neurodevelopmental syndrome linked to a South Asian founder variant in the UFMylation adaptor CDK5RAP3 [0.03%]
一种与泛素样修饰适应蛋白CDK5RAP3相关的新遗传性神经发育障碍综合征
Michaela Yuen,Katharine Zhang,Rhett G Marchant et al.
Michaela Yuen et al.
We investigated the pathogenicity of a homozygous intronic variant in CDK5RAP3, a key UFMylation adapter, in three individuals from two unrelated families with a lethal neurodevelopmental disorder. CDK5RAP3 variants have not been linked to ...
A novel BEND2 monoclonal antibody enables highly specific immunohistochemical diagnosis of BEND2-fusion astroblastomas [0.03%]
一种新型BEND2单克隆抗体可实现BEND2重排星形细胞瘤的特异性免疫组化诊断
Qianqian Sun,Yixing Shi,Leiming Wang et al.
Qianqian Sun et al.
Loss of meningothelial identity and mesenchymal fate switching in NF2-mutant meningiomas [0.03%]
NF2基因突变型脑膜瘤中上皮细胞身份的丧失和间质转分化的现象
Ramin Rahmanzade,Leonille Schweizer,Simone Schmid et al.
Ramin Rahmanzade et al.
Intracranial sarcomas can arise secondarily from primary brain tumors, including gliomas and meningiomas, either spontaneously or following radiotherapy. The current WHO classification recognizes sarcomatous transformation in several tumor ...