Anomia is present pre-symptomatically in frontotemporal dementia due to MAPT mutations
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Data de Publicação: | 2022 |
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Tipo de documento: | Artigo |
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Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/10451/52184 |
Resumo: | © The Author(s) 2022. Springer Nature Switzerland AG. Part of Springer Nature. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. |
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Anomia is present pre-symptomatically in frontotemporal dementia due to MAPT mutationsC9orf72CognitionFrontotemporal dementiaNamingProgranulinTau© The Author(s) 2022. Springer Nature Switzerland AG. Part of Springer Nature. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.Introduction: A third of frontotemporal dementia (FTD) is caused by an autosomal-dominant genetic mutation in one of three genes: microtubule-associated protein tau (MAPT), chromosome 9 open reading frame 72 (C9orf72) and progranulin (GRN). Prior studies of prodromal FTD have identified impaired executive function and social cognition early in the disease but few have studied naming in detail. Methods: We investigated performance on the Boston Naming Test (BNT) in the GENetic Frontotemporal dementia Initiative cohort of 499 mutation carriers and 248 mutation-negative controls divided across three genetic groups: C9orf72, MAPT and GRN. Mutation carriers were further divided into 3 groups according to their global CDR plus NACC FTLD score: 0 (asymptomatic), 0.5 (prodromal) and 1 + (fully symptomatic). Groups were compared using a bootstrapped linear regression model, adjusting for age, sex, language and education. Finally, we identified neural correlates of anomia within carriers of each genetic group using a voxel-based morphometry analysis. Results: All symptomatic groups performed worse on the BNT than controls with the MAPT symptomatic group scoring the worst. Furthermore, MAPT asymptomatic and prodromal groups performed significantly worse than controls. Correlates of anomia in MAPT mutation carriers included bilateral anterior temporal lobe regions and the anterior insula. Similar bilateral anterior temporal lobe involvement was seen in C9orf72 mutation carriers as well as more widespread left frontal atrophy. In GRN mutation carriers, neural correlates were limited to the left hemisphere, and involved frontal, temporal, insula and striatal regions. Conclusion: This study suggests the development of early anomia in MAPT mutation carriers, likely to be associated with impaired semantic knowledge. Clinical trials focused on the prodromal period within individuals with MAPT mutations should use language tasks, such as the BNT for patient stratification and as outcome measures.he Dementia Research Centre is supported by Alzheimer's Research UK, Alzheimer's Society, Brain Research UK, and The Wolfson Foundation. This work was supported by the NIHR UCL/H Biomedical Research Centre, the Leonard Wolfson Experimental Neurology Centre (LWENC) Clinical Research Facility, and the UK Dementia Research Institute, which receives its funding from UK DRI Ltd, funded by the UK Medical Research Council, Alzheimer's Society and Alzheimer's Research UK. JDR is supported by the Miriam Marks Brain Research UK Senior Fellowship and has received funding from an MRC Clinician Scientist Fellowship (MR/M008525/1) and the NIHR Rare Disease Translational Research Collaboration (BRC149/NS/MH). This work was also supported by the MRC UK GENFI grant (MR/M023664/1), the Bluefield Project and the JPND GENFI-PROX grant (2019-02248). This research was supported by the NIHR Cambridge Biomedical Research Centre (BRC-1215-20014). The views expressed are those of the authors and not necessarily those of the NIHR or the Department of Health and Social Care. MB is supported by a Fellowship award from the Alzheimer’s Society, UK (AS-JF-19a-004-517). MB’s work is also supported by the UK Dementia Research Institute which receives its funding from DRI Ltd, funded by the UK Medical Research Council, Alzheimer’s Society and Alzheimer’s Research UK. RC/CG are supported by a Frontotemporal Dementia Research Studentships in Memory of David Blechner funded through The National Brain Appeal (RCN 290173). Several authors of this publication are members of the European Reference Network for Rare Neurological Diseases—Project ID No 739510. This work was funded by the Deutsche Forschungsgemeinschaft (DFG, German Research Foundation) under Germany’s Excellence Strategy within the framework of the Munich Cluster for Systems Neurology (EXC 2145 SyNergy—ID 390857198).Springer NatureRepositório da Universidade de LisboaBouzigues, ArabellaRussell, Lucy L.Peakman, GeorgiaBocchetta, MartinaGreaves, Caroline V.Convery, Rhian S.Todd, EmilyRowe, James B.Borroni, BarbaraGalimberti, DanielaTiraboschi, PietroZetterberg, HenrikJiskoot, LizeSorbi, SandroButler, Chris R.Graff, CarolineGerhard, AlexanderLangheinrich, TobiasLaforce, RobertSanchez-Valle, RaquelDe Mendonça, AlexandreBalasa, MirceaMoreno, FerminSwift, Imogen JSynofzik, MatthisVandenberghe, RikDucharme, SimonLe Ber, IsabelleLevin, JohannesDanek, AdrianOtto, MarkusPasquier, FlorenceTang-Wai, DavidSantana, IsabelRohrer, Jonathan D.Nicholas, JenniferEsteve, Aitana SogorbNelson, AnnabelBouzigues, ArabellaHeller, CarolinGreaves, Caroline VCash, DavidThomas, David LRogaeva, EkaterinaSamra, KiranRussell, Lucy LBocchetta, MartinaShafei, RachelleConvery, Rhian SAntonell, AnnaTimberlake, CarolynCope, ThomasRittman, TimothyBenussi, AlbertoCastelo-Branco, MiguelPremi, EnricoGasparotti, RobertoArchetti, SilvanaGazzina, StefanoCantoni, ValentinaArighi, AndreaOlives, JaumeFenoglio, ChiaraScarpini, ElioFumagalli, GiorgioKeren, RonBorracci, VittoriaRossi, GiacominaGiaccone, GiorgioCaroppo, PaolaTiraboschi, PietroPrioni, SaraRedaelli, VeronicaBlack, SandraMitchell, SaraShoesmith, ChristenBartha, RobartRademakers, RosaFinger, ElizabethPoos, JackieBargalló, NuriaPapma, Janne MGiannini, LuciaMinkelen, RickPijnenburg, YolandeNacmias, BenedettaFerrari, CamillaPolito, CristinaLombardi, GemmaBertrand, AnneBessi, ValentinaVeldsman, MicheleBorrego-Ecija, SergiAndersson, ChristinThonberg, HakanÖijerstedt, LinnJelic, VesnaThompson, PaulLangheinrich, TobiasLladó, AlbertFunkiewiez, AurélieVerdelho, AnaMaruta, CarolinaFerreira, Catarina B.Miltenberger-Miltenyi, GabrielSimões Do Couto, FredericoMasellis, MarioGabilondo, AlazneGorostidi, AnaVillanua, JorgeCañada, MartaRinaldi, DaisyTainta, MikelZulaica, MirenBarandiaran, MyriamAlves, PatriciaBender, BenjaminWilke, CarloTartaglia, Maria CarmelaGraf, LisaVogels, AnnickVandenbulcke, MathieuSaracino, DarioVan Damme, PhilipBruffaerts, RosePoesen, KoenRosa-Neto, PedroGauthier, SergeCamuzat, AgnèsBrice, AlexisColliot, OlivierSayah, SabrinaPrix, CatharinaWlasich, ElisabethWagemann, OliviaTodd, EmilyLoosli, Sandravan Swieten, John C.Schönecker, SonjaHoegen, TobiasLombardi, JolinaAnderl-Straub, SarahRollin, AdelineKuchcinski, GregoryBertoux, MaximeLebouvier, ThibaudBenotmane, HanyaDeramecourt, VincentSantiago, BeatrizSeelaar, HarroDuro, DianaLeitão, Maria JoãoAlmeida, Maria RosarioTábuas-Pereira, MiguelAfonso, SóniaEngel, AnnerosePolyakova, Maryna2022-04-05T13:33:22Z20222022-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10451/52184engJ Neurol. 2022 Mar 290340-535410.1007/s00415-022-11068-01432-1459info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-11-08T16:57:17Zoai:repositorio.ul.pt:10451/52184Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T22:03:19.169047Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Anomia is present pre-symptomatically in frontotemporal dementia due to MAPT mutations |
title |
Anomia is present pre-symptomatically in frontotemporal dementia due to MAPT mutations |
spellingShingle |
Anomia is present pre-symptomatically in frontotemporal dementia due to MAPT mutations Bouzigues, Arabella C9orf72 Cognition Frontotemporal dementia Naming Progranulin Tau |
title_short |
Anomia is present pre-symptomatically in frontotemporal dementia due to MAPT mutations |
title_full |
Anomia is present pre-symptomatically in frontotemporal dementia due to MAPT mutations |
title_fullStr |
Anomia is present pre-symptomatically in frontotemporal dementia due to MAPT mutations |
title_full_unstemmed |
Anomia is present pre-symptomatically in frontotemporal dementia due to MAPT mutations |
title_sort |
Anomia is present pre-symptomatically in frontotemporal dementia due to MAPT mutations |
author |
Bouzigues, Arabella |
author_facet |
Bouzigues, Arabella Russell, Lucy L. Peakman, Georgia Bocchetta, Martina Greaves, Caroline V. Convery, Rhian S. Todd, Emily Rowe, James B. Borroni, Barbara Galimberti, Daniela Tiraboschi, Pietro Zetterberg, Henrik Jiskoot, Lize Sorbi, Sandro Butler, Chris R. Graff, Caroline Gerhard, Alexander Langheinrich, Tobias Laforce, Robert Sanchez-Valle, Raquel De Mendonça, Alexandre Balasa, Mircea Moreno, Fermin Swift, Imogen J Synofzik, Matthis Vandenberghe, Rik Ducharme, Simon Le Ber, Isabelle Levin, Johannes Danek, Adrian Otto, Markus Pasquier, Florence Tang-Wai, David Santana, Isabel Rohrer, Jonathan D. Nicholas, Jennifer Esteve, Aitana Sogorb Nelson, Annabel Heller, Carolin Greaves, Caroline V Cash, David Thomas, David L Rogaeva, Ekaterina Samra, Kiran Russell, Lucy L Shafei, Rachelle Convery, Rhian S Antonell, Anna Timberlake, Carolyn Cope, Thomas Rittman, Timothy Benussi, Alberto Castelo-Branco, Miguel Premi, Enrico Gasparotti, Roberto Archetti, Silvana Gazzina, Stefano Cantoni, Valentina Arighi, Andrea Olives, Jaume Fenoglio, Chiara Scarpini, Elio Fumagalli, Giorgio Keren, Ron Borracci, Vittoria Rossi, Giacomina Giaccone, Giorgio Caroppo, Paola Prioni, Sara Redaelli, Veronica Black, Sandra Mitchell, Sara Shoesmith, Christen Bartha, Robart Rademakers, Rosa Finger, Elizabeth Poos, Jackie Bargalló, Nuria Papma, Janne M Giannini, Lucia Minkelen, Rick Pijnenburg, Yolande Nacmias, Benedetta Ferrari, Camilla Polito, Cristina Lombardi, Gemma Bertrand, Anne Bessi, Valentina Veldsman, Michele Borrego-Ecija, Sergi Andersson, Christin Thonberg, Hakan Öijerstedt, Linn Jelic, Vesna Thompson, Paul Lladó, Albert Funkiewiez, Aurélie Verdelho, Ana Maruta, Carolina Ferreira, Catarina B. Miltenberger-Miltenyi, Gabriel Simões Do Couto, Frederico Masellis, Mario Gabilondo, Alazne Gorostidi, Ana Villanua, Jorge Cañada, Marta Rinaldi, Daisy Tainta, Mikel Zulaica, Miren Barandiaran, Myriam Alves, Patricia Bender, Benjamin Wilke, Carlo Tartaglia, Maria Carmela Graf, Lisa Vogels, Annick Vandenbulcke, Mathieu Saracino, Dario Van Damme, Philip Bruffaerts, Rose Poesen, Koen Rosa-Neto, Pedro Gauthier, Serge Camuzat, Agnès Brice, Alexis Colliot, Olivier Sayah, Sabrina Prix, Catharina Wlasich, Elisabeth Wagemann, Olivia Loosli, Sandra van Swieten, John C. Schönecker, Sonja Hoegen, Tobias Lombardi, Jolina Anderl-Straub, Sarah Rollin, Adeline Kuchcinski, Gregory Bertoux, Maxime Lebouvier, Thibaud Benotmane, Hanya Deramecourt, Vincent Santiago, Beatriz Seelaar, Harro Duro, Diana Leitão, Maria João Almeida, Maria Rosario Tábuas-Pereira, Miguel Afonso, Sónia Engel, Annerose Polyakova, Maryna |
author_role |
author |
author2 |
Russell, Lucy L. Peakman, Georgia Bocchetta, Martina Greaves, Caroline V. Convery, Rhian S. Todd, Emily Rowe, James B. Borroni, Barbara Galimberti, Daniela Tiraboschi, Pietro Zetterberg, Henrik Jiskoot, Lize Sorbi, Sandro Butler, Chris R. Graff, Caroline Gerhard, Alexander Langheinrich, Tobias Laforce, Robert Sanchez-Valle, Raquel De Mendonça, Alexandre Balasa, Mircea Moreno, Fermin Swift, Imogen J Synofzik, Matthis Vandenberghe, Rik Ducharme, Simon Le Ber, Isabelle Levin, Johannes Danek, Adrian Otto, Markus Pasquier, Florence Tang-Wai, David Santana, Isabel Rohrer, Jonathan D. Nicholas, Jennifer Esteve, Aitana Sogorb Nelson, Annabel Heller, Carolin Greaves, Caroline V Cash, David Thomas, David L Rogaeva, Ekaterina Samra, Kiran Russell, Lucy L Shafei, Rachelle Convery, Rhian S Antonell, Anna Timberlake, Carolyn Cope, Thomas Rittman, Timothy Benussi, Alberto Castelo-Branco, Miguel Premi, Enrico Gasparotti, Roberto Archetti, Silvana Gazzina, Stefano Cantoni, Valentina Arighi, Andrea Olives, Jaume Fenoglio, Chiara Scarpini, Elio Fumagalli, Giorgio Keren, Ron Borracci, Vittoria Rossi, Giacomina Giaccone, Giorgio Caroppo, Paola Prioni, Sara Redaelli, Veronica Black, Sandra Mitchell, Sara Shoesmith, Christen Bartha, Robart Rademakers, Rosa Finger, Elizabeth Poos, Jackie Bargalló, Nuria Papma, Janne M Giannini, Lucia Minkelen, Rick Pijnenburg, Yolande Nacmias, Benedetta Ferrari, Camilla Polito, Cristina Lombardi, Gemma Bertrand, Anne Bessi, Valentina Veldsman, Michele Borrego-Ecija, Sergi Andersson, Christin Thonberg, Hakan Öijerstedt, Linn Jelic, Vesna Thompson, Paul Lladó, Albert Funkiewiez, Aurélie Verdelho, Ana Maruta, Carolina Ferreira, Catarina B. Miltenberger-Miltenyi, Gabriel Simões Do Couto, Frederico Masellis, Mario Gabilondo, Alazne Gorostidi, Ana Villanua, Jorge Cañada, Marta Rinaldi, Daisy Tainta, Mikel Zulaica, Miren Barandiaran, Myriam Alves, Patricia Bender, Benjamin Wilke, Carlo Tartaglia, Maria Carmela Graf, Lisa Vogels, Annick Vandenbulcke, Mathieu Saracino, Dario Van Damme, Philip Bruffaerts, Rose Poesen, Koen Rosa-Neto, Pedro Gauthier, Serge Camuzat, Agnès Brice, Alexis Colliot, Olivier Sayah, Sabrina Prix, Catharina Wlasich, Elisabeth Wagemann, Olivia Loosli, Sandra van Swieten, John C. Schönecker, Sonja Hoegen, Tobias Lombardi, Jolina Anderl-Straub, Sarah Rollin, Adeline Kuchcinski, Gregory Bertoux, Maxime Lebouvier, Thibaud Benotmane, Hanya Deramecourt, Vincent Santiago, Beatriz Seelaar, Harro Duro, Diana Leitão, Maria João Almeida, Maria Rosario Tábuas-Pereira, Miguel Afonso, Sónia Engel, Annerose Polyakova, Maryna |
author2_role |
author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author |
dc.contributor.none.fl_str_mv |
Repositório da Universidade de Lisboa |
dc.contributor.author.fl_str_mv |
Bouzigues, Arabella Russell, Lucy L. Peakman, Georgia Bocchetta, Martina Greaves, Caroline V. Convery, Rhian S. Todd, Emily Rowe, James B. Borroni, Barbara Galimberti, Daniela Tiraboschi, Pietro Zetterberg, Henrik Jiskoot, Lize Sorbi, Sandro Butler, Chris R. Graff, Caroline Gerhard, Alexander Langheinrich, Tobias Laforce, Robert Sanchez-Valle, Raquel De Mendonça, Alexandre Balasa, Mircea Moreno, Fermin Swift, Imogen J Synofzik, Matthis Vandenberghe, Rik Ducharme, Simon Le Ber, Isabelle Levin, Johannes Danek, Adrian Otto, Markus Pasquier, Florence Tang-Wai, David Santana, Isabel Rohrer, Jonathan D. Nicholas, Jennifer Esteve, Aitana Sogorb Nelson, Annabel Bouzigues, Arabella Heller, Carolin Greaves, Caroline V Cash, David Thomas, David L Rogaeva, Ekaterina Samra, Kiran Russell, Lucy L Bocchetta, Martina Shafei, Rachelle Convery, Rhian S Antonell, Anna Timberlake, Carolyn Cope, Thomas Rittman, Timothy Benussi, Alberto Castelo-Branco, Miguel Premi, Enrico Gasparotti, Roberto Archetti, Silvana Gazzina, Stefano Cantoni, Valentina Arighi, Andrea Olives, Jaume Fenoglio, Chiara Scarpini, Elio Fumagalli, Giorgio Keren, Ron Borracci, Vittoria Rossi, Giacomina Giaccone, Giorgio Caroppo, Paola Tiraboschi, Pietro Prioni, Sara Redaelli, Veronica Black, Sandra Mitchell, Sara Shoesmith, Christen Bartha, Robart Rademakers, Rosa Finger, Elizabeth Poos, Jackie Bargalló, Nuria Papma, Janne M Giannini, Lucia Minkelen, Rick Pijnenburg, Yolande Nacmias, Benedetta Ferrari, Camilla Polito, Cristina Lombardi, Gemma Bertrand, Anne Bessi, Valentina Veldsman, Michele Borrego-Ecija, Sergi Andersson, Christin Thonberg, Hakan Öijerstedt, Linn Jelic, Vesna Thompson, Paul Langheinrich, Tobias Lladó, Albert Funkiewiez, Aurélie Verdelho, Ana Maruta, Carolina Ferreira, Catarina B. Miltenberger-Miltenyi, Gabriel Simões Do Couto, Frederico Masellis, Mario Gabilondo, Alazne Gorostidi, Ana Villanua, Jorge Cañada, Marta Rinaldi, Daisy Tainta, Mikel Zulaica, Miren Barandiaran, Myriam Alves, Patricia Bender, Benjamin Wilke, Carlo Tartaglia, Maria Carmela Graf, Lisa Vogels, Annick Vandenbulcke, Mathieu Saracino, Dario Van Damme, Philip Bruffaerts, Rose Poesen, Koen Rosa-Neto, Pedro Gauthier, Serge Camuzat, Agnès Brice, Alexis Colliot, Olivier Sayah, Sabrina Prix, Catharina Wlasich, Elisabeth Wagemann, Olivia Todd, Emily Loosli, Sandra van Swieten, John C. Schönecker, Sonja Hoegen, Tobias Lombardi, Jolina Anderl-Straub, Sarah Rollin, Adeline Kuchcinski, Gregory Bertoux, Maxime Lebouvier, Thibaud Benotmane, Hanya Deramecourt, Vincent Santiago, Beatriz Seelaar, Harro Duro, Diana Leitão, Maria João Almeida, Maria Rosario Tábuas-Pereira, Miguel Afonso, Sónia Engel, Annerose Polyakova, Maryna |
dc.subject.por.fl_str_mv |
C9orf72 Cognition Frontotemporal dementia Naming Progranulin Tau |
topic |
C9orf72 Cognition Frontotemporal dementia Naming Progranulin Tau |
description |
© The Author(s) 2022. Springer Nature Switzerland AG. Part of Springer Nature. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. |
publishDate |
2022 |
dc.date.none.fl_str_mv |
2022-04-05T13:33:22Z 2022 2022-01-01T00:00:00Z |
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info:eu-repo/semantics/publishedVersion |
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http://hdl.handle.net/10451/52184 |
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http://hdl.handle.net/10451/52184 |
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eng |
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eng |
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J Neurol. 2022 Mar 29 0340-5354 10.1007/s00415-022-11068-0 1432-1459 |
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Springer Nature |
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Springer Nature |
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