{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,4]],"date-time":"2025-12-04T22:24:46Z","timestamp":1764887086069,"version":"3.46.0"},"reference-count":56,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2025,12,1]],"date-time":"2025-12-01T00:00:00Z","timestamp":1764547200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,12,1]],"date-time":"2025-12-01T00:00:00Z","timestamp":1764547200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T00:00:00Z","timestamp":1761696000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neurobiology of Disease"],"published-print":{"date-parts":[[2025,12]]},"DOI":"10.1016\/j.nbd.2025.107167","type":"journal-article","created":{"date-parts":[[2025,10,31]],"date-time":"2025-10-31T00:27:17Z","timestamp":1761870437000},"page":"107167","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"special_numbering":"C","title":["Perspectives on the utilization of cell-free DNA in amyotrophic lateral sclerosis (ALS) diagnostics and prognostics - insight from cancer research"],"prefix":"10.1016","volume":"217","author":[{"given":"Anna","family":"Konopka","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"8","key":"10.1016\/j.nbd.2025.107167_bb0005","doi-asserted-by":"crossref","first-page":"2737","DOI":"10.1038\/s41591-025-03735-2","article-title":"Early detection of multiple cancer types using multidimensional cell-free DNA fragmentomics","volume":"31","author":"Bao","year":"2025","journal-title":"Nat. Med."},{"issue":"2","key":"10.1016\/j.nbd.2025.107167_bib286","doi-asserted-by":"crossref","first-page":"325","DOI":"10.3390\/genes14020325","article-title":"Extracellular Vesicles as Potential Biomarkers in Amyotrophic Lateral Sclerosis","volume":"14","author":"Barbo","year":"2023","journal-title":"Genes (Basel)"},{"key":"10.1016\/j.nbd.2025.107167_bb0010","doi-asserted-by":"crossref","DOI":"10.3389\/fgene.2021.671057","article-title":"Detection of cell types contributing to cancer from circulating, cell-free methylated DNA","volume":"12","author":"Barefoot","year":"2021","journal-title":"Front. Genet."},{"issue":"7","key":"10.1016\/j.nbd.2025.107167_bb0015","doi-asserted-by":"crossref","DOI":"10.3390\/ph14070617","article-title":"How to obtain a high quality ctDNA in lymphoma patients: preanalytical tips and tricks","volume":"14","author":"Bourbon","year":"2021","journal-title":"Pharmaceuticals (Basel)"},{"issue":"1","key":"10.1016\/j.nbd.2025.107167_bib287","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1186\/s40035-024-00418-9","article-title":"Central nervous system-derived extracellular vesicles: the next generation of neural circulating biomarkers?","volume":"13","author":"Bravo-Miana","year":"2024","journal-title":"Transl Neurodegener"},{"issue":"3","key":"10.1016\/j.nbd.2025.107167_bb0025","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1038\/nrn.2015.29","article-title":"Extracellular vesicles round off communication in the nervous system","volume":"17","author":"Budnik","year":"2016","journal-title":"Nat. Rev. Neurosci."},{"issue":"1","key":"10.1016\/j.nbd.2025.107167_bb0030","doi-asserted-by":"crossref","first-page":"2717","DOI":"10.1038\/s41467-021-22901-x","article-title":"Comprehensive cell type decomposition of circulating cell-free DNA with CelFiE","volume":"12","author":"Caggiano","year":"2021","journal-title":"Nat. Commun."},{"key":"10.1016\/j.nbd.2025.107167_bb0035","article-title":"Tissue informative cell-free DNA methylation sites in amyotrophic lateral sclerosis","author":"Caggiano","year":"2024","journal-title":"medRxiv [Preprint]"},{"key":"10.1016\/j.nbd.2025.107167_bb0040","doi-asserted-by":"crossref","DOI":"10.1017\/erm.2017.12","article-title":"Cell-free DNA: the role in pathophysiology and as a biomarker in kidney diseases","volume":"20","author":"Celec","year":"2018","journal-title":"Expert Rev. Mol. Med."},{"key":"10.1016\/j.nbd.2025.107167_bb0045","article-title":"Circulating cell-free DNA methylation profiles enable disease-specific detection of Alzheimer\u2019s, Parkinson\u2019s, and ALS from blood","author":"Chad Pollard","year":"2025","journal-title":"medRxiv[Preprint]"},{"issue":"5","key":"10.1016\/j.nbd.2025.107167_bb0050","doi-asserted-by":"crossref","first-page":"1115","DOI":"10.1007\/s10072-019-04201-x","article-title":"Biochemical parameters in determination of nutritional status in amyotrophic lateral sclerosis","volume":"41","author":"Chelstowska","year":"2020","journal-title":"Neurol. Sci."},{"issue":"5","key":"10.1016\/j.nbd.2025.107167_bb0055","doi-asserted-by":"crossref","first-page":"253","DOI":"10.21037\/atm-22-12","article-title":"Monitoring early dynamic changes of plasma cell-free DNA and pretreatment pre-albumin to predict chemotherapy effectiveness and survival outcomes in advanced non-small cell lung cancer","volume":"10","author":"Chen","year":"2022","journal-title":"Ann. Transl. Med."},{"issue":"2","key":"10.1016\/j.nbd.2025.107167_bb0060","doi-asserted-by":"crossref","DOI":"10.3390\/jcm14020545","article-title":"Resting-state EEG oscillations in amyotrophic lateral sclerosis (ALS): toward mechanistic insights and clinical markers","volume":"14","author":"Chmiel","year":"2025","journal-title":"J. Clin. Med."},{"issue":"1","key":"10.1016\/j.nbd.2025.107167_bb0065","doi-asserted-by":"crossref","DOI":"10.1101\/cshperspect.a020412","article-title":"The blood-brain barrier","volume":"7","author":"Daneman","year":"2015","journal-title":"Cold Spring Harb. Perspect. Biol."},{"issue":"13","key":"10.1016\/j.nbd.2025.107167_bb0070","doi-asserted-by":"crossref","DOI":"10.3390\/cancers14133143","article-title":"Pre-PCR mutation-enrichment methods for liquid biopsy applications","volume":"14","author":"Darbeheshti","year":"2022","journal-title":"Cancers (Basel)"},{"key":"10.1016\/j.nbd.2025.107167_bb0075","doi-asserted-by":"crossref","first-page":"11","DOI":"10.3390\/cells10112898","article-title":"Molecular mechanisms of mtDNA-mediated inflammation","volume":"10","author":"De Gaetano","year":"2021","journal-title":"Cells"},{"key":"10.1016\/j.nbd.2025.107167_bb0080","doi-asserted-by":"crossref","DOI":"10.1016\/j.ebiom.2023.104521","article-title":"Metabolic alterations precede neurofilament changes in presymptomatic ALS gene carriers","volume":"90","author":"Dorst","year":"2023","journal-title":"EBioMedicine"},{"issue":"2","key":"10.1016\/j.nbd.2025.107167_bb0085","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1007\/s00018-020-03619-3","article-title":"Extracellular vesicles and amyotrophic lateral sclerosis: from misfolded protein vehicles to promising clinical biomarkers","volume":"78","author":"Gagliardi","year":"2021","journal-title":"Cell. Mol. Life Sci."},{"key":"10.1016\/j.nbd.2025.107167_bb0090","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1016\/j.brainres.2011.04.049","article-title":"Amyotrophic lateral sclerosis: a neurovascular disease","volume":"1398","author":"Garbuzova-Davis","year":"2011","journal-title":"Brain Res."},{"issue":"12","key":"10.1016\/j.nbd.2025.107167_bb0095","doi-asserted-by":"crossref","first-page":"1410","DOI":"10.1515\/CCLM.2006.252","article-title":"Increase in and clearance of cell-free plasma DNA in hemodialysis quantified by real-time PCR","volume":"44","author":"Garcia Moreira","year":"2006","journal-title":"Clin. Chem. Lab. Med."},{"issue":"1\u20132","key":"10.1016\/j.nbd.2025.107167_bb0100","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1016\/j.jneuroim.2006.05.012","article-title":"Isolation and culture of microvascular endothelial cells from murine spinal cord","volume":"177","author":"Ge","year":"2006","journal-title":"J. Neuroimmunol."},{"issue":"1","key":"10.1016\/j.nbd.2025.107167_bb0105","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1159\/000486201","article-title":"Elevated global DNA methylation is not exclusive to amyotrophic lateral sclerosis and is also observed in spinocerebellar Ataxia types 1 and 2","volume":"18","author":"Hamzeiy","year":"2018","journal-title":"Neurodegener. Dis."},{"issue":"1","key":"10.1016\/j.nbd.2025.107167_bb0110","first-page":"10","article-title":"Evaluation of a biomarker for amyotrophic lateral sclerosis derived from a hypomethylated DNA signature of human motor neurons","volume":"18","author":"Harvey","year":"2025","journal-title":"BMC Med. Genet."},{"issue":"1","key":"10.1016\/j.nbd.2025.107167_bb0115","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1186\/s13578-025-01366-1","article-title":"Whole-genome bisulfite sequencing of cell-free DNA unveils age-dependent and ALS-associated methylation alterations","volume":"15","author":"Jin","year":"2025","journal-title":"Cell Biosci."},{"issue":"6478","key":"10.1016\/j.nbd.2025.107167_bb0120","doi-asserted-by":"crossref","DOI":"10.1126\/science.aau6977","article-title":"The biology, function, and biomedical applications of exosomes","volume":"367","author":"Kalluri","year":"2020","journal-title":"Science"},{"issue":"4","key":"10.1016\/j.nbd.2025.107167_bb0125","doi-asserted-by":"crossref","DOI":"10.4155\/fsoa-2017-0140","article-title":"Kinetics of circulating cell-free DNA for biomedical applications: critical appraisal of the literature","volume":"4","author":"Khier","year":"2018","journal-title":"Future Sci. OA"},{"issue":"4","key":"10.1016\/j.nbd.2025.107167_bb0130","doi-asserted-by":"crossref","first-page":"747","DOI":"10.4103\/1673-5374.382226","article-title":"Skeletal muscle as a molecular and cellular biomarker of disease progression in amyotrophic lateral sclerosis: a narrative review","volume":"19","author":"King","year":"2024","journal-title":"Neural Regen. Res."},{"key":"10.1016\/j.nbd.2025.107167_bb0135","doi-asserted-by":"crossref","DOI":"10.3389\/fnagi.2022.786420","article-title":"DNA damage, defective DNA repair, and neurodegeneration in amyotrophic lateral sclerosis","volume":"14","author":"Konopka","year":"2022","journal-title":"Front. Aging Neurosci."},{"issue":"7","key":"10.1016\/j.nbd.2025.107167_bb0140","doi-asserted-by":"crossref","first-page":"746","DOI":"10.1016\/j.bbapap.2014.12.013","article-title":"Cerebrospinal fluid proteomics in multiple sclerosis","volume":"1854","author":"Kroksveen","year":"2015","journal-title":"Biochim. Biophys. Acta"},{"issue":"8","key":"10.1016\/j.nbd.2025.107167_bb0145","doi-asserted-by":"crossref","first-page":"1057","DOI":"10.1080\/15384047.2019.1598759","article-title":"Life and death of circulating cell-free DNA","volume":"20","author":"Kustanovich","year":"2019","journal-title":"Cancer Biol. Ther."},{"issue":"12","key":"10.1016\/j.nbd.2025.107167_bb0150","doi-asserted-by":"crossref","DOI":"10.1111\/ene.16493","article-title":"Elevated serum circulating cell-free mitochondrial DNA in amyotrophic lateral sclerosis","volume":"31","author":"Li","year":"2024","journal-title":"Eur. J. Neurol."},{"key":"10.1016\/j.nbd.2025.107167_bb0155","doi-asserted-by":"crossref","first-page":"1005","DOI":"10.3389\/fimmu.2017.01005","article-title":"Role of Neuroinflammation in amyotrophic lateral sclerosis: cellular mechanisms and therapeutic implications","volume":"8","author":"Liu","year":"2017","journal-title":"Front. Immunol."},{"issue":"6538","key":"10.1016\/j.nbd.2025.107167_bb0160","doi-asserted-by":"crossref","DOI":"10.1126\/science.aaw3616","article-title":"Epigenetics, fragmentomics, and topology of cell-free DNA in liquid biopsies","volume":"372","author":"Lo","year":"2021","journal-title":"Science"},{"issue":"5","key":"10.1016\/j.nbd.2025.107167_bb0165","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1097\/WCO.0000000000000730","article-title":"Epidemiology of amyotrophic lateral sclerosis: an update of recent literature","volume":"32","author":"Longinetti","year":"2019","journal-title":"Curr. Opin. Neurol."},{"issue":"6","key":"10.1016\/j.nbd.2025.107167_bb0170","doi-asserted-by":"crossref","first-page":"763","DOI":"10.1002\/acn3.565","article-title":"Liquid biopsy: a new source of candidate biomarkers in amyotrophic lateral sclerosis","volume":"5","author":"Mendioroz","year":"2018","journal-title":"Ann. Clin. Transl. Neurol."},{"issue":"1","key":"10.1016\/j.nbd.2025.107167_bb0175","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1038\/sj.cdd.4401161","article-title":"Degradation of chromosomal DNA during apoptosis","volume":"10","author":"Nagata","year":"2003","journal-title":"Cell Death Differ."},{"key":"10.1016\/j.nbd.2025.107167_bb0180","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1146\/annurev-biochem-032620-104401","article-title":"Mitochondrial DNA release in innate immune signaling","volume":"92","author":"Newman","year":"2023","journal-title":"Annu. Rev. Biochem."},{"issue":"2","key":"10.1016\/j.nbd.2025.107167_bb0190","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1080\/17482960601149160","article-title":"An epigenetic analysis of SOD1 and VEGF in ALS","volume":"8","author":"Oates","year":"2007","journal-title":"Amyotroph. Lateral Scler."},{"issue":"5","key":"10.1016\/j.nbd.2025.107167_bb0195","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1002\/ana.410010502","article-title":"The large apparent work capability of the blood-brain barrier: a study of the mitochondrial content of capillary endothelial cells in brain and other tissues of the rat","volume":"1","author":"Oldendorf","year":"1977","journal-title":"Ann. Neurol."},{"year":"2017","series-title":"Guide to Cancer Early Diagnosis","author":"Organization WH","key":"10.1016\/j.nbd.2025.107167_bb0200"},{"key":"10.1016\/j.nbd.2025.107167_bb0205","doi-asserted-by":"crossref","DOI":"10.3389\/fonc.2023.1164535","article-title":"Tumor heterogeneity: preclinical models, emerging technologies, and future applications","volume":"13","author":"Proietto","year":"2023","journal-title":"Front. Oncol."},{"issue":"2","key":"10.1016\/j.nbd.2025.107167_bb0210","doi-asserted-by":"crossref","first-page":"1025","DOI":"10.1152\/physrev.00031.2020","article-title":"Fluid transport in the brain","volume":"102","author":"Rasmussen","year":"2022","journal-title":"Physiol. Rev."},{"key":"10.1016\/j.nbd.2025.107167_bb0215","series-title":"Amyotrophic Lateral Sclerosis. Brisbane (AU)","article-title":"Time to diagnosis and factors affecting diagnostic delay in amyotrophic lateral sclerosis","author":"Richards","year":"2021"},{"issue":"4","key":"10.1016\/j.nbd.2025.107167_bb0220","doi-asserted-by":"crossref","DOI":"10.15252\/embr.201949799","article-title":"Mitochondrial DNA in inflammation and immunity","volume":"21","author":"Riley","year":"2020","journal-title":"EMBO Rep."},{"issue":"13","key":"10.1016\/j.nbd.2025.107167_bb0225","doi-asserted-by":"crossref","DOI":"10.1016\/j.celrep.2020.107830","article-title":"Senescence, necrosis, and apoptosis govern circulating cell-free DNA release kinetics","volume":"31","author":"Rostami","year":"2020","journal-title":"Cell Rep."},{"issue":"1","key":"10.1016\/j.nbd.2025.107167_bb0230","doi-asserted-by":"crossref","DOI":"10.1212\/NXG.0000000000000555","article-title":"Does somatic mosaicism account for some sporadic ALS?","volume":"7","author":"Ryan","year":"2021","journal-title":"Neurol. Genet."},{"issue":"11","key":"10.1016\/j.nbd.2025.107167_bb0235","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0206478","article-title":"Protein variability in cerebrospinal fluid and its possible implications for neurological protein biomarker research","volume":"13","author":"Schilde","year":"2018","journal-title":"PLoS One"},{"issue":"5","key":"10.1016\/j.nbd.2025.107167_bb0240","doi-asserted-by":"crossref","first-page":"642","DOI":"10.1177\/0271678X231153281","article-title":"Blood-CNS barrier dysfunction in amyotrophic lateral sclerosis: proposed mechanisms and clinical implications","volume":"43","author":"Steinruecke","year":"2023","journal-title":"J. Cereb. Blood Flow Metab."},{"issue":"1","key":"10.1016\/j.nbd.2025.107167_bb0245","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1186\/s13148-024-01638-6","article-title":"Tissue of origin prediction for cancer of unknown primary using a targeted methylation sequencing panel","volume":"16","author":"Sun","year":"2024","journal-title":"Clin. Epigenetics"},{"issue":"1\u20132","key":"10.1016\/j.nbd.2025.107167_bb0250","doi-asserted-by":"crossref","first-page":"98","DOI":"10.3109\/21678421.2013.851247","article-title":"Whole-blood global DNA methylation is increased in amyotrophic lateral sclerosis independently of age of onset","volume":"15","author":"Tremolizzo","year":"2014","journal-title":"Amyotroph. Lateral Scler. Frontotemporal Degener."},{"issue":"6","key":"10.1016\/j.nbd.2025.107167_bb0255","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1038\/s41582-021-00487-8","article-title":"Non-neuronal cells in amyotrophic lateral sclerosis - from pathogenesis to biomarkers","volume":"17","author":"Vahsen","year":"2021","journal-title":"Nat. Rev. Neurol."},{"issue":"5","key":"10.1016\/j.nbd.2025.107167_bb0260","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1038\/s41580-022-00460-3","article-title":"Challenges and directions in studying cell-cell communication by extracellular vesicles","volume":"23","author":"van Niel","year":"2022","journal-title":"Nat. Rev. Mol. Cell Biol."},{"issue":"29","key":"10.1016\/j.nbd.2025.107167_bb0265","doi-asserted-by":"crossref","first-page":"7727","DOI":"10.1523\/JNEUROSCI.0587-16.2016","article-title":"Glutamate-mediated blood-brain barrier opening: implications for neuroprotection and drug delivery","volume":"36","author":"Vazana","year":"2016","journal-title":"J. Neurosci."},{"key":"10.1016\/j.nbd.2025.107167_bb0270","doi-asserted-by":"crossref","DOI":"10.1016\/j.brainres.2020.146647","article-title":"Inflammatory stress induced by a combination of cytokines (IL-6, IL-17, TNF-alpha) leads to a loss of integrity on bEnd.3 endothelial cells in vitro BBB model","volume":"1730","author":"Voirin","year":"2020","journal-title":"Brain Res."},{"issue":"3","key":"10.1016\/j.nbd.2025.107167_bb0275","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1093\/jrr\/rraf022","article-title":"Advancing cell-free DNA as a biomarker of damage to heart caused by ionizing radiation","volume":"66","author":"Wallisch","year":"2025","journal-title":"J. Radiat. Res."},{"issue":"7","key":"10.1016\/j.nbd.2025.107167_bb0285","doi-asserted-by":"crossref","first-page":"1114","DOI":"10.1038\/s41591-020-0915-3","article-title":"Genome-wide cell-free DNA mutational integration enables ultra-sensitive cancer monitoring","volume":"26","author":"Zviran","year":"2020","journal-title":"Nat. Med."}],"container-title":["Neurobiology of Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0969996125003845?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0969996125003845?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,12,4]],"date-time":"2025-12-04T22:22:35Z","timestamp":1764886955000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0969996125003845"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,12]]},"references-count":56,"alternative-id":["S0969996125003845"],"URL":"https:\/\/doi.org\/10.1016\/j.nbd.2025.107167","relation":{},"ISSN":["0969-9961"],"issn-type":[{"type":"print","value":"0969-9961"}],"subject":[],"published":{"date-parts":[[2025,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Perspectives on the utilization of cell-free DNA in amyotrophic lateral sclerosis (ALS) diagnostics and prognostics - insight from cancer research","name":"articletitle","label":"Article Title"},{"value":"Neurobiology of Disease","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nbd.2025.107167","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"simple-article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 The Author. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}],"article-number":"107167"}}