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A platform for discovery: The University of Pennsylvania Integrated Neurodegenerative Disease Biobank.一个发现平台:宾夕法尼亚大学综合神经退行性疾病生物样本库。
Alzheimers Dement. 2014 Jul;10(4):477-484.e1. doi: 10.1016/j.jalz.2013.06.003. Epub 2013 Aug 24.
2
Multiprotein deposits in neurodegenerative disorders: our experience in the tissue brain bank of Navarra.神经退行性疾病中的多蛋白沉积:我们在纳瓦拉脑组织库的经验。
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3
Assessment of the degree of asymmetry of pathological features in neurodegenerative diseases. What is the significance for brain banks?神经退行性疾病中病理特征不对称程度的评估。对脑库有何意义?
J Neural Transm (Vienna). 2015 Oct;122(10):1499-508. doi: 10.1007/s00702-015-1410-8. Epub 2015 May 29.
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Inflammation in the early stages of neurodegenerative pathology.神经退行性病变早期的炎症反应。
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Changes in proteome solubility indicate widespread proteostatic disruption in mouse models of neurodegenerative disease.蛋白质组可溶性变化表明神经退行性疾病小鼠模型中广泛的蛋白质稳定破坏。
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National Dementia BioBank: A Strategy for the Diagnosis and Study of Neurodegenerative Diseases in México.国家痴呆症生物银行:墨西哥神经退行性疾病诊断和研究策略。
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[Pathology of basal ganglia in neurodegenerative diseases].[神经退行性疾病中基底神经节的病理学]
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JAMA Neurol. 2025 Sep 8. doi: 10.1001/jamaneurol.2025.3316.
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Comparison of plasma p-tau217/Aβ42, p-tau217, and Aβ42/Aβ40 biomarkers by race to detect Alzheimer's disease.通过种族比较血浆p-tau217/Aβ42、p-tau217和Aβ42/Aβ40生物标志物以检测阿尔茨海默病。
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Pathologic burden goes with the flow: MRI perfusion and pathologic burden in frontotemporal lobar degeneration due to tau.病理负担随病情发展:tau蛋白所致额颞叶痴呆的MRI灌注与病理负担
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medRxiv. 2025 May 22:2025.03.04.25323383. doi: 10.1101/2025.03.04.25323383.
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Blood α-Synuclein Separates Parkinson's Disease from Dementia with Lewy Bodies.血液中的α-突触核蛋白可将帕金森病与路易体痴呆区分开来。
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Operationalizing postmortem pathology-MRI association studies in Alzheimer's disease and related disorders with MRI-guided histology sampling.通过MRI引导的组织学采样,实施阿尔茨海默病及相关疾病的死后病理学与MRI关联研究。
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本文引用的文献

1
Plasma amyloid beta measurements - a desired but elusive Alzheimer's disease biomarker.血浆淀粉样蛋白β测量 - 阿尔茨海默病的理想但难以捉摸的生物标志物。
Alzheimers Res Ther. 2013 Mar 8;5(2):8. doi: 10.1186/alzrt162. eCollection 2013.
2
Can MRI screen for CSF biomarkers in neurodegenerative disease?MRI 能否用于检测神经退行性疾病中的 CSF 生物标志物?
Neurology. 2013 Jan 8;80(2):132-8. doi: 10.1212/WNL.0b013e31827b9147. Epub 2012 Dec 26.
3
TREM2 variants in Alzheimer's disease.TREM2 变体在阿尔茨海默病中的作用。
N Engl J Med. 2013 Jan 10;368(2):117-27. doi: 10.1056/NEJMoa1211851. Epub 2012 Nov 14.
4
Unique motifs and hydrophobic interactions shape the binding of modified DNA ligands to protein targets.独特的模体和疏水相互作用决定了修饰 DNA 配体与蛋白质靶标的结合。
Proc Natl Acad Sci U S A. 2012 Dec 4;109(49):19971-6. doi: 10.1073/pnas.1213933109. Epub 2012 Nov 8.
5
Cognitive decline and reduced survival in C9orf72 expansion frontotemporal degeneration and amyotrophic lateral sclerosis.C9orf72 扩张性额颞叶变性和肌萎缩侧索硬化症认知功能下降和生存时间缩短。
J Neurol Neurosurg Psychiatry. 2013 Feb;84(2):163-9. doi: 10.1136/jnnp-2012-303507. Epub 2012 Oct 31.
6
Neuropathologic substrates of Parkinson disease dementia.帕金森病痴呆的神经病理学基础。
Ann Neurol. 2012 Oct;72(4):587-98. doi: 10.1002/ana.23659. Epub 2012 Oct 4.
7
TMEM106B, the risk gene for frontotemporal dementia, is regulated by the microRNA-132/212 cluster and affects progranulin pathways.TMEM106B,额颞叶痴呆的风险基因,受 microRNA-132/212 簇调控,并影响颗粒蛋白途径。
J Neurosci. 2012 Aug 15;32(33):11213-27. doi: 10.1523/JNEUROSCI.0521-12.2012.
8
The genetics and neuropathology of neurodegenerative disorders: perspectives and implications for research and clinical practice.神经退行性疾病的遗传学与神经病理学:对研究及临床实践的观点与启示
Acta Neuropathol. 2012 Sep;124(3):297-303. doi: 10.1007/s00401-012-1032-2.
9
Plasma multianalyte profiling in mild cognitive impairment and Alzheimer disease.轻度认知障碍和阿尔茨海默病的血浆多分析物谱分析。
Neurology. 2012 Aug 28;79(9):897-905. doi: 10.1212/WNL.0b013e318266fa70. Epub 2012 Aug 1.
10
Microglial activation correlates with disease progression and upper motor neuron clinical symptoms in amyotrophic lateral sclerosis.小胶质细胞活化与肌萎缩侧索硬化症的疾病进展和上运动神经元临床症状相关。
PLoS One. 2012;7(6):e39216. doi: 10.1371/journal.pone.0039216. Epub 2012 Jun 14.

一个发现平台:宾夕法尼亚大学综合神经退行性疾病生物样本库。

A platform for discovery: The University of Pennsylvania Integrated Neurodegenerative Disease Biobank.

作者信息

Toledo Jon B, Van Deerlin Vivianna M, Lee Edward B, Suh EunRan, Baek Young, Robinson John L, Xie Sharon X, McBride Jennifer, Wood Elisabeth M, Schuck Theresa, Irwin David J, Gross Rachel G, Hurtig Howard, McCluskey Leo, Elman Lauren, Karlawish Jason, Schellenberg Gerard, Chen-Plotkin Alice, Wolk David, Grossman Murray, Arnold Steven E, Shaw Leslie M, Lee Virginia M-Y, Trojanowski John Q

机构信息

Department of Pathology & Laboratory Medicine, Institute on Aging, Center for Neurodegenerative Disease Research, Philadelphia, Pennsylvania, USA.

Department of Biostatistics and Epidemiology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.

出版信息

Alzheimers Dement. 2014 Jul;10(4):477-484.e1. doi: 10.1016/j.jalz.2013.06.003. Epub 2013 Aug 24.

DOI:10.1016/j.jalz.2013.06.003
PMID:23978324
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3933464/
Abstract

Neurodegenerative diseases (NDs) are defined by the accumulation of abnormal protein deposits in the central nervous system (CNS), and only neuropathological examination enables a definitive diagnosis. Brain banks and their associated scientific programs have shaped the actual knowledge of NDs, identifying and characterizing the CNS deposits that define new diseases, formulating staging schemes, and establishing correlations between neuropathological changes and clinical features. However, brain banks have evolved to accommodate the banking of biofluids as well as DNA and RNA samples. Moreover, the value of biobanks is greatly enhanced if they link all the multidimensional clinical and laboratory information of each case, which is accomplished, optimally, using systematic and standardized operating procedures, and in the framework of multidisciplinary teams with the support of a flexible and user-friendly database system that facilitates the sharing of information of all the teams in the network. We describe a biobanking system that is a platform for discovery research at the Center for Neurodegenerative Disease Research at the University of Pennsylvania.

摘要

神经退行性疾病(NDs)的定义是中枢神经系统(CNS)中异常蛋白质沉积物的积累,只有神经病理学检查才能做出明确诊断。脑库及其相关科学项目塑造了我们对NDs的实际认知,识别并表征了定义新疾病的CNS沉积物,制定了分期方案,并建立了神经病理学变化与临床特征之间的关联。然而,脑库已经发展到能够保存生物流体以及DNA和RNA样本。此外,如果生物样本库将每个病例的所有多维度临床和实验室信息联系起来,其价值将大大提高,这最好通过系统和标准化的操作程序来实现,并在多学科团队的框架内,借助灵活且用户友好的数据库系统的支持,该系统便于网络中所有团队共享信息。我们描述了一个生物样本库系统,它是宾夕法尼亚大学神经退行性疾病研究中心进行探索性研究的平台。