Central Nervous System Kinase-Altered Spindle Cell Neoplasm: A Case Series of an Emerging Tumour Type [0.03%]
中枢神经系统激酶异常的纺锤细胞肿瘤：一种新兴肿瘤类型的一系列病例研究
Faizan Malik,Julieann C Lee,Soniya Pinto et al.
Faizan Malik et al.
S Rehan Ahmad,Nazim Nasir,Anupriya Kumari et al.
S Rehan Ahmad et al.
Early-onset Parkinsonism is a neurodegenerative disorder that can arise from rare genetic variants. We report a 21-year-old female proband with progressive bradykinesia, symmetrical rigidity, resting tremors, postural instability, executive...
Role of Astrocytic and Microglial Phenotype in the Biology of Hippocampal Sclerosis [0.03%]
astrocytic和微胶质细胞表型在海马硬化生物学中的作用
Aditi Goyal,Shilpa Rao,Amit Kumar Saha et al.
Aditi Goyal et al.
Aims: Astrocytic and microglial phenotypes (A1/A2 and M1/M2, respectively) with neuro-inflammatory and neuroprotective roles are key players in the pathogenesis of several neurological diseases. However, their role in epi...
Use of DNA Methylation Profiling as a Molecular Classification Tool for Paediatric Central Nervous System Tumours: A Middle-Income Country Population-Based Study [0.03%]
基于人口的中等收入国家儿童中枢神经系统肿瘤表观遗传学分类研究：DNA甲基化谱图的应用
Mayara F Euzébio,Felipe L T Silva,Iva L Hoffmann et al.
Mayara F Euzébio et al.
Paediatric central nervous system (CNS) tumours are the second most common childhood malignancy and the leading cause of cancer-related mortality in this age group. Histopathological diagnosis can be challenging, particularly for rare or am...
A Specific Methylation Class Identifies BAP1-Deficient Meningiomas, Including Meningeal Tumours With Poorly Differentiated Nonrhabdoid Histology [0.03%]
BAP1缺陷型脑膜瘤的一个特定甲基化组，包括分化不良非横纹肌肉瘤样表型的脑膜肿瘤
Philippe Drabent,Mehdi Touat,Patrick R Benusiglio et al.
Philippe Drabent et al.
BAP1-deficient meningiomas have a preferential infratentorial or spinal localization and may present with an undifferentiated histology of small or epithelioid cells rather than the meningothelial, rhabdoid or papillary variants. Frequent e...
Palmitoyl-Protein Thioesterase 1 (PPT1) Protein, Linked to Neuronal Ceroid Lipofuscinosis 1, Is a Major Constituent of Ageing-Related Human Neuronal Lipofuscin [0.03%]
与神经 ceroid 溶酶体贮积症 1 型有关的棕榈酰蛋白硫酯酶 1（PPT1）是人老化相关神经元脂褐素的主要组成成分
Max Anstötz,Sarah Tschirner,Caroline May et al.
Max Anstötz et al.
Proteomics of laser-dissected lipofuscin from aged, healthy brains reveals Palmitoyl-Protein Thioesterase 1 (PPT1) and other CLN proteins as constituents. PPT1 is increasingly sequestered to lipofuscin during ageing. Protein sequestering in...
Quantification of Exercise-Induced Sarcomeric Damage in R349P Desmin Knock-In Mice: A New Approach in Myofibrillar Myopathy Research [0.03%]
定量分析R349P型desmin敲入小鼠运动诱导的肌节损伤：肌肉纤维肌病研究的新方法
Christian Holtzhausen,Dorothea Schultheis,Carolin Berwanger et al.
Christian Holtzhausen et al.
Aims: The classical morphological hallmarks of the clinically and genetically diverse group of human myofibrillar myopathies are signs of myofibrillar degeneration and desmin-positive protein aggregates. The local sarcome...
A Novel Neuropathological Subtype of Amyotrophic Lateral Sclerosis Characterised by Prominent Astroglial TDP-43 Pathology [0.03%]
一种新型的脊髓侧索硬化症神经病理亚型，以星形胶质细胞TDP-43病变为主要特征
Tomoyasu Matsubara,Yuishin Izumi,Yuki Hatanaka et al.
Tomoyasu Matsubara et al.
This study identified a novel amyotrophic lateral sclerosis subtype with prominent astroglial phosphorylated TDP‐43 inclusions and minimal neuronal inclusions.The patients shared a clinical phenotype of flail arm variant of ALS.These obser...
Myopathology and Immune Profile of Granulomatous Myositis in Sarcoid Myopathy [0.03%]
肉芽肿性肌炎的肌病理及免疫表型研究——系统性颗粒性肌炎的研究
Nikolas Ruffer,Iago Pinal-Fernandez,Felix Kleefeld et al.
Nikolas Ruffer et al.
Aims: Sarcoid myopathy (SaM) is characterised by granulomatous myositis (GM) and can overlap with inclusion body myositis (IBM), a late-onset chronic idiopathic inflammatory myopathy with a still enigmatic pathogenesis. A...