{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T21:34:26Z","timestamp":1792272866146,"version":"4.4.0"},"reference-count":78,"publisher":"American Association for the Advancement of Science (AAAS)","license":[{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,10,16]],"date-time":"2023-10-16T00:00:00Z","timestamp":1697414400000},"content-version":"vor","delay-in-days":288,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["csbj.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Comput Struct Biotechnol J"],"published-print":{"date-parts":[[2023,1]]},"DOI":"10.1016\/j.csbj.2023.10.031","type":"journal-article","created":{"date-parts":[[2023,10,21]],"date-time":"2023-10-21T11:30:41Z","timestamp":1697887841000},"page":"5395-5407","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":7,"title":["Computational analysis of five neurodegenerative diseases reveals shared and specific genetic loci"],"prefix":"10.34133","volume":"21","author":[{"given":"Francesca","family":"Maselli","sequence":"first","affiliation":[{"name":"Institute of Bioimaging and Molecular Physiology, National Research Council, Milan, Italy"},{"name":"Department of Biosciences, University of Milan, Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salvatore","family":"D\u2019Antona","sequence":"additional","affiliation":[{"name":"Institute of Bioimaging and Molecular Physiology, National Research Council, Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mattia","family":"Utichi","sequence":"additional","affiliation":[{"name":"Cancer Systems Biology, Section for Bioinformatics, Department of Health and Technology, Lyngby, Technical University of Denmark"},{"name":"Cancer Structural Biology, Danish Cancer Institute, Copenhagen, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matteo","family":"Arnaudi","sequence":"additional","affiliation":[{"name":"Cancer Systems Biology, Section for Bioinformatics, Department of Health and Technology, Lyngby, Technical University of Denmark"},{"name":"Cancer Structural Biology, Danish Cancer Institute, Copenhagen, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabella","family":"Castiglioni","sequence":"additional","affiliation":[{"name":"Department of Physics \u2018\u2018Giuseppe Occhialini\u201d, University of Milan, Bicocca, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danilo","family":"Porro","sequence":"additional","affiliation":[{"name":"Institute of Bioimaging and Molecular Physiology, National Research Council, Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Papaleo","sequence":"additional","affiliation":[{"name":"Cancer Systems Biology, Section for Bioinformatics, Department of Health and Technology, Lyngby, Technical University of Denmark"},{"name":"Cancer Structural Biology, Danish Cancer Institute, Copenhagen, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Gandellini","sequence":"additional","affiliation":[{"name":"Department of Biosciences, University of Milan, Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Cava","sequence":"additional","affiliation":[{"name":"Institute of Bioimaging and Molecular Physiology, National Research Council, Milan, Italy"},{"name":"Department of Science, Technology and Society, University School for Advanced Studies IUSS Pavia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"221","published-online":{"date-parts":[[2023,11,2]]},"reference":[{"key":"e_1_3_5_2_2","doi-asserted-by":"publisher","DOI":"10.1242\/dmm.030205"},{"key":"e_1_3_5_3_2","doi-asserted-by":"crossref","DOI":"10.3389\/fnins.2020.577755","article-title":"From multi-omics approaches to precision medicine in amyotrophic lateral sclerosis","volume":"14","author":"Morello G.","year":"2020","unstructured":"Morello G., Salomone S., D'Agata V., Conforti F.L. and Cavallaro S.: From multi-omics approaches to precision medicine in amyotrophic lateral sclerosis. Front Neurosci 2020; 14: 577755.","journal-title":"Front Neurosci"},{"key":"e_1_3_5_4_2","doi-asserted-by":"publisher","DOI":"10.1101\/cshperspect.a028035"},{"key":"e_1_3_5_5_2","doi-asserted-by":"crossref","DOI":"10.1016\/j.nbd.2020.104953","article-title":"Polygenic risk and pleiotropy in neurodegenerative diseases","volume":"142","author":"Bellou E.","year":"2020","unstructured":"Bellou E., Stevenson-Hoare J. and Escott-Price V.: Polygenic risk and pleiotropy in neurodegenerative diseases. Neurobiol Dis 2020; 142.","journal-title":"Neurobiol Dis"},{"key":"e_1_3_5_6_2","article-title":"Analysis of shared heritability in common disorders of the brain","volume":"360","author":"Anttila V.","year":"2018","unstructured":"Anttila V., Bulik-Sullivan B., Finucane H.K. et al: Analysis of shared heritability in common disorders of the brain. Science 2018; 360.","journal-title":"Science"},{"key":"e_1_3_5_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(17)31287-4"},{"key":"e_1_3_5_8_2","doi-asserted-by":"crossref","DOI":"10.3389\/fphar.2022.1054006","article-title":"New developments and opportunities in drugs being trialed for amyotrophic lateral sclerosis from 2020 to 2022","volume":"13","author":"Jiang J.","year":"2022","unstructured":"Jiang J., Wang Y. and Deng M.: New developments and opportunities in drugs being trialed for amyotrophic lateral sclerosis from 2020 to 2022. Front Pharm 2022; 13: 1054006.","journal-title":"Front Pharm"},{"key":"e_1_3_5_9_2","doi-asserted-by":"crossref","first-page":"416","DOI":"10.1016\/S1474-4422(18)30054-1","article-title":"Stage at which riluzole treatment prolongs survival in patients with amyotrophic lateral sclerosis: a retrospective analysis of data from a dose-ranging study","volume":"17","author":"Fang T.","year":"2018","unstructured":"Fang T., Al Khleifat A., Meurgey J.H., Jones A., Leigh P.N., Bensimon G. et al: Stage at which riluzole treatment prolongs survival in patients with amyotrophic lateral sclerosis: a retrospective analysis of data from a dose-ranging study. Lancet Neurol 2018; 17: 416.","journal-title":"Lancet Neurol"},{"key":"e_1_3_5_10_2","doi-asserted-by":"crossref","first-page":"3258","DOI":"10.1007\/s00415-020-09993-z","article-title":"The Italian multicenter experience with edaravone in amyotrophic lateral sclerosis","volume":"267","author":"Lunetta C.","year":"2020","unstructured":"Lunetta C., Moglia C., Lizio A., Caponnetto C., Dubbioso R., Giannini F. et al: The Italian multicenter experience with edaravone in amyotrophic lateral sclerosis. J Neurol 2020; 267: 3258.","journal-title":"J Neurol"},{"key":"e_1_3_5_11_2","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1001\/jamaneurol.2021.4893","article-title":"Safety and effectiveness of long-term intravenous administration of edaravone for treatment of patients with amyotrophic lateral sclerosis","volume":"79","author":"Witzel S.","year":"2022","unstructured":"Witzel S., Maier A., Steinbach R., Grosskreutz J., Koch J.C., Sarikidi A. et al: Safety and effectiveness of long-term intravenous administration of edaravone for treatment of patients with amyotrophic lateral sclerosis. JAMA Neurol 2022; 79: 121.","journal-title":"JAMA Neurol"},{"key":"e_1_3_5_12_2","doi-asserted-by":"crossref","DOI":"10.1016\/j.eclinm.2022.101590","article-title":"Intravenous edaravone treatment in ALS and survival: An exploratory, retrospective, administrative claims analysis","volume":"52","author":"Brooks B.R.","year":"2022","unstructured":"Brooks B.R., Berry J.D., Ciepielewska M., Liu Y., Zambrano G.S., Zhang J. et al: Intravenous edaravone treatment in ALS and survival: An exploratory, retrospective, administrative claims analysis. EClinicalMedicine 2022 4; 52: 101590.","journal-title":"EClinicalMedicine"},{"key":"e_1_3_5_13_2","volume-title":"FDA approves first ALS drug in 5 years after pleas from patients","author":"McGinley L.","year":"2022","unstructured":"McGinley L.: FDA approves first ALS drug in 5 years after pleas from patients. Washington, DC: Washington post 2022. (Available at) https:\/\/www.washingtonpost.com\/health\/2022\/09\/29\/als-drug-fda-approval\/."},{"key":"e_1_3_5_14_2","volume-title":"Phase III Trial of AMX0035 for amyotrophic lateral sclerosis treatment.","author":"Amylyx","year":"2021","unstructured":"Amylyx : Phase III Trial of AMX0035 for amyotrophic lateral sclerosis treatment.. Betheseda, MD: U.S. National Library of Medicine 2021. ([Internet] Available at) https:\/\/ClinicalTrials.gov\/show\/NCT05021536."},{"key":"e_1_3_5_15_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0812937106"},{"key":"e_1_3_5_16_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1742-4658.2011.08256.x"},{"key":"e_1_3_5_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2023.112134"},{"key":"e_1_3_5_18_2","doi-asserted-by":"crossref","DOI":"10.3389\/fncel.2023.1247297","article-title":"Unraveling the impact of disrupted nucleocytoplasmic transport systems in C9orf72-associated ALS","volume":"17","author":"McGoldrick P.","year":"2023","unstructured":"McGoldrick P. and Robertson J.: Unraveling the impact of disrupted nucleocytoplasmic transport systems in C9orf72-associated ALS. Front Cell Neurosci 2023; 17: 1247297.","journal-title":"Front Cell Neurosci"},{"key":"e_1_3_5_19_2","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1186\/s40478-020-01112-3","article-title":"Spreading of TDP-43 pathology via pyramidal tract induces ALS-like phenotypes in TDP-43 transgenic mice","volume":"9","author":"Ding X.","year":"2021","unstructured":"Ding X., Xiang Z., Qin C., Chen Y., Tian H., Meng L. et al: Spreading of TDP-43 pathology via pyramidal tract induces ALS-like phenotypes in TDP-43 transgenic mice. Acta Neuropathol Commun 2021; 9: 15.","journal-title":"Acta Neuropathol Commun"},{"key":"e_1_3_5_20_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awz419"},{"key":"e_1_3_5_21_2","doi-asserted-by":"publisher","DOI":"10.3390\/ijms22116004"},{"key":"e_1_3_5_22_2","doi-asserted-by":"publisher","DOI":"10.1111\/ene.13439"},{"key":"e_1_3_5_23_2","doi-asserted-by":"publisher","DOI":"10.2105\/AJPH.88.9.1337"},{"key":"e_1_3_5_24_2","doi-asserted-by":"publisher","DOI":"10.3233\/JAD-170045"},{"key":"e_1_3_5_25_2","doi-asserted-by":"publisher","DOI":"10.1007\/s13311-022-01201-2"},{"key":"e_1_3_5_26_2","doi-asserted-by":"publisher","DOI":"10.3390\/ijms241813900"},{"key":"e_1_3_5_27_2","doi-asserted-by":"crossref","DOI":"10.1002\/trc2.12385","article-title":"Alzheimer's disease drug development pipeline: 2023","volume":"9","author":"Cummings J.","year":"2023","unstructured":"Cummings J., Zhou Y., Lee G., Zhong K., Fonseca J. and Cheng F.: Alzheimer's disease drug development pipeline: 2023. Alzheimers Dement (N Y) 2023 25; 9: e12385.","journal-title":"Alzheimers Dement (N Y)"},{"key":"e_1_3_5_28_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa2212948"},{"key":"e_1_3_5_29_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-020-0696-0"},{"key":"e_1_3_5_30_2","article-title":"Genome-wide association and multi-omics studies identify MGMT as a novel risk gene for Alzheimer's disease among women","author":"Chung J.","year":"2022","unstructured":"Chung J., Das A., Sun X., Sobreira D.R., Leung Y.Y., Igartua C. et al: Genome-wide association and multi-omics studies identify MGMT as a novel risk gene for Alzheimer's disease among women. 10.1002\/alz.12719 Alzheimers Dement 2022; .","journal-title":"Alzheimers Dement"},{"key":"e_1_3_5_31_2","doi-asserted-by":"crossref","DOI":"10.1038\/s42003-022-04011-6","article-title":"Multi-Omic analyses characterize the ceramide\/sphingomyelin pathway as a therapeutic target in Alzheimer's disease","volume":"5","author":"Baloni P.","year":"2022","unstructured":"Baloni P., Arnold M., Buitrago L., Nho K., Moreno H., Huynh K. et al: Multi-Omic analyses characterize the ceramide\/sphingomyelin pathway as a therapeutic target in Alzheimer's disease. Commun Biol 2022; 5: 1074.","journal-title":"Commun Biol"},{"key":"e_1_3_5_32_2","doi-asserted-by":"crossref","first-page":"364","DOI":"10.3390\/ijerph19010364","article-title":"Systematic review on parkinson's disease medications, emphasizing on three recently approved drugs to control Parkinson's symptoms","volume":"19","author":"Sivanandy P.","year":"2021","unstructured":"Sivanandy P., Leey T.C., Xiang T.C., Ling T.C., Wey Han S.A., Semilan S.L.A. et al: Systematic review on parkinson's disease medications, emphasizing on three recently approved drugs to control Parkinson's symptoms. Int J Environ Res Public Health 2021; 19: 364.","journal-title":"Int J Environ Res Public Health"},{"key":"e_1_3_5_33_2","doi-asserted-by":"crossref","first-page":"1737","DOI":"10.2147\/TCRM.S139545","article-title":"Safinamide in the management of patients with Parkinson's disease not stabilized on levodopa: a review of the current clinical evidence","volume":"14","author":"Bette S.","year":"2018","unstructured":"Bette S., Shpiner D.S., Singer C. and Moore H.: Safinamide in the management of patients with Parkinson's disease not stabilized on levodopa: a review of the current clinical evidence. Ther Clin Risk Manag 2018; 14: 1737.","journal-title":"Ther Clin Risk Manag"},{"key":"e_1_3_5_34_2","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1007\/s11302-020-09694-2","article-title":"The belated US FDA approval of the adenosine A2A receptor antagonist istradefylline for treatment of Parkinson's disease","volume":"16","author":"Chen J.F.","year":"2020","unstructured":"Chen J.F. and Cunha R.A.: The belated US FDA approval of the adenosine A2A receptor antagonist istradefylline for treatment of Parkinson's disease. Purinergic Signal 2020; 16: 167.","journal-title":"Purinergic Signal"},{"key":"e_1_3_5_35_2","doi-asserted-by":"crossref","first-page":"797","DOI":"10.1212\/WNL.0000000000006396","article-title":"Mortality in patients with Parkinson disease psychosis receiving pimavanserin and quetiapine","volume":"91","author":"Moreno G.M.","year":"2018","unstructured":"Moreno G.M., Gandhi R., Lessig S.L., Wright B., Litvan I. and Nahab F.B.: Mortality in patients with Parkinson disease psychosis receiving pimavanserin and quetiapine. Neurology 2018; 91: 797.","journal-title":"Neurology"},{"key":"e_1_3_5_36_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddab294"},{"key":"e_1_3_5_37_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2021.105580"},{"key":"e_1_3_5_38_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-021-10744-x"},{"key":"e_1_3_5_39_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(08)61620-7"},{"key":"e_1_3_5_40_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21141"},{"key":"e_1_3_5_41_2","doi-asserted-by":"crossref","first-page":"1016","DOI":"10.1136\/jnnp-2014-309243","article-title":"Comparative efficacy of interferon \u03b2 versus glatiramer acetate for relapsing-remitting multiple sclerosis","volume":"86","author":"La Mantia L.","year":"2015","unstructured":"La Mantia L., Di Pietrantonj C., Rovaris M., Rigon G., Frau S., Berardo F. et al: Comparative efficacy of interferon \u03b2 versus glatiramer acetate for relapsing-remitting multiple sclerosis. J Neurol Neurosurg Psychiatry 2015; 86: 1016.","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"e_1_3_5_42_2","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1007\/s40265-023-01854-z","article-title":"Ublituximab: first approval","volume":"83","author":"Lee A.","year":"2023","unstructured":"Lee A.: Ublituximab: first approval. Drugs 2023; 83: 455.","journal-title":"Drugs"},{"key":"e_1_3_5_43_2","first-page":"956","article-title":"Ponesimod: an oral second-generation selective sphingosine 1-phosphate receptor modulator for the treatment of multiple sclerosis","volume":"57","author":"Alnaif A.","year":"2023","unstructured":"Alnaif A., Oiler I. and D'Souza M.S.: Ponesimod: an oral second-generation selective sphingosine 1-phosphate receptor modulator for the treatment of multiple sclerosis. Ann Pharm 2023; 57: 956.","journal-title":"Ann Pharm"},{"key":"e_1_3_5_44_2","doi-asserted-by":"crossref","first-page":"2141","DOI":"10.1177\/13524585211004422","article-title":"Utilising multi-large omics data to elucidate biological mechanisms within multiple sclerosis genetic susceptibility loci","volume":"27","author":"Zhou Y.","year":"2021","unstructured":"Zhou Y., Cuellar-Partida G., Simpson Yap S., Lin X., Claflin S., Burdon K. et al: Utilising multi-large omics data to elucidate biological mechanisms within multiple sclerosis genetic susceptibility loci. Mult Scler 2021; 27: 2141.","journal-title":"Mult Scler"},{"key":"e_1_3_5_45_2","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1016\/S1474-4422(19)30153-X","article-title":"New evidence on the management of Lewy body dementia","volume":"19","author":"Taylor J.P.","year":"2020","unstructured":"Taylor J.P., McKeith I.G., Burn D.J., Boeve B.F., Weintraub D., Bamford C. et al: New evidence on the management of Lewy body dementia. Lancet Neurol 2020; 19: 157.","journal-title":"Lancet Neurol"},{"key":"e_1_3_5_46_2","doi-asserted-by":"crossref","first-page":"603","DOI":"10.1016\/j.cger.2018.06.007","article-title":"Lewy body dementia","volume":"34","author":"Sanford A.M.","year":"2018","unstructured":"Sanford A.M.: Lewy body dementia. Clin Geriatr Med 2018; 34: 603.","journal-title":"Clin Geriatr Med"},{"key":"e_1_3_5_47_2","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1007\/s40266-022-00939-w","article-title":"Current therapies and drug development pipeline in lewy body dementia: an update","volume":"39","author":"MacDonald S.","year":"2022","unstructured":"MacDonald S., Shah A.S. and Tousi B.: Current therapies and drug development pipeline in lewy body dementia: an update. Drugs Aging 2022; 39: 505.","journal-title":"Drugs Aging"},{"key":"e_1_3_5_48_2","doi-asserted-by":"crossref","DOI":"10.1002\/trc2.12375","article-title":"Listening session with the US Food and drug administration, lewy body dementia association, and an expert panel","volume":"9","author":"Sabbagh M.N.","year":"2023","unstructured":"Sabbagh M.N., Taylor A., Galasko D., Galvin J.E., Goldman J.G., Leverenz J.B. et al: Listening session with the US Food and drug administration, lewy body dementia association, and an expert panel. Alzheimers Dement (N Y) 2023; 9: e12375.","journal-title":"Alzheimers Dement (N Y)"},{"key":"e_1_3_5_49_2","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1186\/s13195-023-01244-3","article-title":"Shared genetic risk loci between Alzheimer\u2019s disease and related dementias, Parkinson\u2019s disease, and amyotrophic lateral sclerosis","volume":"15","author":"Wainberg M.","year":"2023","unstructured":"Wainberg M., Andrews S.J. and Tripathy S.J.: Shared genetic risk loci between Alzheimer\u2019s disease and related dementias, Parkinson\u2019s disease, and amyotrophic lateral sclerosis. Alz Res Ther 2023; 15: 113.","journal-title":"Alz Res Ther"},{"key":"e_1_3_5_50_2","doi-asserted-by":"publisher","DOI":"10.1002\/gepi.20516"},{"key":"e_1_3_5_51_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3406"},{"key":"e_1_3_5_52_2","doi-asserted-by":"crossref","DOI":"10.1002\/mpr.1608","article-title":"A tutorial on conducting genome-wide association studies: quality control and statistical analysis","volume":"27","author":"Marees A.T.","year":"2018","unstructured":"Marees A.T., de Kluiver H., Stringer S., Vorspan F., Curis E., Marie-Claire C. et al: A tutorial on conducting genome-wide association studies: quality control and statistical analysis. Int J Methods Psychiatr Res 2018; 27: e1608.","journal-title":"Int J Methods Psychiatr Res"},{"key":"e_1_3_5_53_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13742-015-0047-8"},{"key":"e_1_3_5_54_2","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1093\/bib\/bbs037","article-title":"Batch effect removal methods for microarray gene expression data integration: a survey","volume":"14","author":"Lazar C.","year":"2013","unstructured":"Lazar C., Meganck S., Taminau J., Steenhoff D., Coletta A., Molter C. et al: Batch effect removal methods for microarray gene expression data integration: a survey. Brief Bioinform 2013; 14: 469.","journal-title":"Brief Bioinform"},{"key":"e_1_3_5_55_2","doi-asserted-by":"publisher","DOI":"10.1002\/gepi.20303"},{"key":"e_1_3_5_56_2","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1038\/nprot.2010.182","article-title":"Basic statistical analysis in genetic case-control studies","volume":"6","author":"Clarke G.M.","year":"2011","unstructured":"Clarke G.M., Anderson C.A., Pettersson F.H., Cardon L.R., Morris A.P. and Zondervan K.T.: Basic statistical analysis in genetic case-control studies. Nat Protoc 2011; 6: 121.","journal-title":"Nat Protoc"},{"key":"e_1_3_5_57_2","doi-asserted-by":"crossref","unstructured":"Arnaudi M. Beltrame L. Degn K. Utichi M. Pettenella A. Scrima S.\u00a0 et al. MAVISp: Multi-layered Assessment of VarIants by Structure for proteins bioRxiv 2022.10.22.513328; doi: https:\/\/doi.org\/10.1101\/2022.10.22.513328.","DOI":"10.1101\/2022.10.22.513328"},{"key":"e_1_3_5_58_2","doi-asserted-by":"crossref","first-page":"1051","DOI":"10.1002\/humu.23555","article-title":"ClinVar miner: demonstrating utility of a web-based tool for viewing and filtering ClinVar data","volume":"39","author":"Henrie A.","year":"2018","unstructured":"Henrie A., Hemphill S.E., Ruiz-Schultz N., Cushman B., DiStefano M.T., Azzariti D. et al: ClinVar miner: demonstrating utility of a web-based tool for viewing and filtering ClinVar data. Hum Mutat 2018; 39: 1051.","journal-title":"Hum Mutat"},{"key":"e_1_3_5_59_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41419-022-05318-2"},{"key":"e_1_3_5_60_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-021-03828-1"},{"key":"e_1_3_5_61_2","doi-asserted-by":"publisher","DOI":"10.1093\/bib\/bbac074"},{"key":"e_1_3_5_62_2","doi-asserted-by":"crossref","DOI":"10.1002\/pro.4527","article-title":"RosettaDDGPrediction for high-throughput mutational scans: From stability to binding","volume":"32","author":"Sora V.","year":"2023","unstructured":"Sora V., Laspiur A.O., Degn K., Arnaudi M., Utichi M., Beltrame L. et al: RosettaDDGPrediction for high-throughput mutational scans: From stability to binding. Protein Sci 2023; 32: e4527.","journal-title":"Protein Sci"},{"key":"e_1_3_5_63_2","doi-asserted-by":"crossref","unstructured":"Arnaudi M. Beltrame L. Degn K. Utichi M. Pettenella A. Scrima S.\u00a0 et al. MAVISp: Multi-layered Assessment of VarIants by Structure for proteins bioRxiv 2022.10.22.513328; doi: https:\/\/doi.org\/10.1101\/2022.10.22.513328.","DOI":"10.1101\/2022.10.22.513328"},{"key":"e_1_3_5_64_2","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0042390","article-title":"miRSystem: an integrated system for characterizing enriched functions and pathways of microRNA targets","volume":"7","author":"Lu T.P.","year":"2012","unstructured":"Lu T.P., Lee C.Y., Tsai M.H., Chiu Y.C., Hsiao C.K., Lai L.C. et al: miRSystem: an integrated system for characterizing enriched functions and pathways of microRNA targets. PLoS One 2012; 7: e42390.","journal-title":"PLoS One"},{"key":"e_1_3_5_65_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.03.021"},{"key":"e_1_3_5_66_2","doi-asserted-by":"crossref","first-page":"9362","DOI":"10.1073\/pnas.0903103106","article-title":"Potential etiologic and functional implications of genome-wide association loci for human diseases and traits","volume":"106","author":"Hindorff L.A.","year":"2009","unstructured":"Hindorff L.A., Sethupathy P., Junkins H.A., Ramos E.M., Mehta J.P., Collins F.S. et al: Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc Natl Acad Sci USA 2009; 106: 9362.","journal-title":"Proc Natl Acad Sci USA"},{"key":"e_1_3_5_67_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/28.1.352"},{"key":"e_1_3_5_68_2","doi-asserted-by":"crossref","first-page":"688","DOI":"10.1093\/brain\/awx370","article-title":"Hot-spot KIF5A mutations cause familial ALS","volume":"141","author":"Brenner D.","year":"2018","unstructured":"Brenner D., Yilmaz R., M\u00fcller K., Grehl T., Petri S., Meyer T. et al: Hot-spot KIF5A mutations cause familial ALS. Brain 2018; 141: 688.","journal-title":"Brain"},{"key":"e_1_3_5_69_2","first-page":"1153","article-title":"Genetic variants at the miR-124 binding site on the cytoskeleton-organizing IQGAP1 gene confer differential predisposition to breast cancer","volume":"38","author":"Zheng H.","year":"2011","unstructured":"Zheng H., Song F., Zhang L., Yang D., Ji P., Wang Y. et al: Genetic variants at the miR-124 binding site on the cytoskeleton-organizing IQGAP1 gene confer differential predisposition to breast cancer. Int J Oncol 2011; 38: 1153.","journal-title":"Int J Oncol"},{"key":"e_1_3_5_70_2","doi-asserted-by":"crossref","DOI":"10.3389\/fgene.2021.793523","article-title":"SNPs in miRNAs and target sequences: role in cancer and diabetes","volume":"12","author":"Chhichholiya Y.","year":"2021","unstructured":"Chhichholiya Y., Suryan A.K., Suman P., Munshi A. and Singh S.: SNPs in miRNAs and target sequences: role in cancer and diabetes. Front Genet 2021; 12: 793523.","journal-title":"Front Genet"},{"key":"e_1_3_5_71_2","unstructured":"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=HLA-DRB1."},{"key":"e_1_3_5_72_2","unstructured":"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=TMEM175&keywords=TMEM17."},{"key":"e_1_3_5_73_2","unstructured":"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=BIN1."},{"key":"e_1_3_5_74_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1750-3639.1993.tb00729.x"},{"key":"e_1_3_5_75_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(17)31363-6"},{"key":"e_1_3_5_76_2","doi-asserted-by":"crossref","first-page":"5812","DOI":"10.1038\/s41380-020-0764-y","article-title":"Prediction of clinical diagnosis of Alzheimer's disease, vascular, mixed, and all-cause dementia by a polygenic risk score and APOE status in a community-based cohort prospectively followed over 17 years","volume":"26","author":"Stocker H.","year":"2021","unstructured":"Stocker H., Perna L., Weigl K., M\u00f6llers T., Sch\u00f6ttker B., Thomsen H. et al: Prediction of clinical diagnosis of Alzheimer's disease, vascular, mixed, and all-cause dementia by a polygenic risk score and APOE status in a community-based cohort prospectively followed over 17 years. Mol Psychiatry 2021; 26: 5812.","journal-title":"Mol Psychiatry"},{"key":"e_1_3_5_77_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature08451"},{"key":"e_1_3_5_78_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkw500"},{"key":"e_1_3_5_79_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awu249"}],"container-title":["Computational and Structural Biotechnology Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2001037023003835?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2001037023003835?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/spj.science.org\/doi\/pdf\/10.1016\/j.csbj.2023.10.031","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,5]],"date-time":"2026-05-05T21:16:18Z","timestamp":1778015778000},"score":1,"resource":{"primary":{"URL":"https:\/\/spj.science.org\/doi\/10.1016\/j.csbj.2023.10.031"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,1]]},"references-count":78,"alternative-id":["10.1016\/j.csbj.2023.10.031"],"URL":"https:\/\/doi.org\/10.1016\/j.csbj.2023.10.031","relation":{},"ISSN":["2001-0370"],"issn-type":[{"value":"2001-0370","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Computational analysis of five neurodegenerative diseases reveals shared and specific genetic loci","name":"articletitle","label":"Article Title"},{"value":"Computational and Structural Biotechnology Journal","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.csbj.2023.10.031","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 The Authors. Published by Elsevier B.V. on behalf of Research Network of Computational and Structural Biotechnology.","name":"copyright","label":"Copyright"}]}}