Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort
BACKGROUND: As gene-targeted therapies are increasingly being developed for Parkinson's disease (PD), identifying and characterizing carriers of specific genetic pathogenic variants is imperative. Only a small fraction of the estimated number of subjects with monogenic PD worldwide are currentl...
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2023
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| author | Eva‐Juliane Vollstedt Susen Schaake Katja Lohmann Shalini Padmanabhan Alexis Brice Suzanne Lesage Christelle Tesson Marie Vidailhet Isabel Wurster F. Hentati Anat Mirelman Nir Giladi Karen Marder Cheryl Waters Stanley Fahn Meike Kasten Norbert Brüggemann Max Borsche Tatiana Foroud Eduardo Tolosa Alícia Garrido Grazia Annesi Monica Gagliardi Maria Bozi Leonidas Stefanis Joaquim J. Ferreira Leonor Correia Guedes Micol Avenali Simona Petrucci Lorraine N. Clark E. Yu. Fedotova Natalya Abramycheva Victoria Álvarez Manuel Menéndez‐González S. Jesús Maestre Pilar Gómez‐Garre Pablo Mir Andrea Carmine Belin Caroline Ran Chin‐Hsien Lin Ming‐Che Kuo David Crosiers Zbigniew K. Wszołek Owen A. Ross Joseph Jankovic Kenya Nishioka Manabu Funayama Jordi Clarimón Caroline H. Williams‐Gray Marta Camacho Mario Cornejo‐Olivas Luis Torres-Ramírez Yih‐Ru Wu Guey‐Jen Lee‐Chen Ana Morgadinho Teeratorn Pulkes Pichet Termsarasab Daniela Berg Gregor Kuhlenbäumer Andrea A. Kühn Friederike Borngräber Giuseppe De Michele Anna De Rosa Alexander Zimprich Andreas Puschmann George D. Mellick Jolanta Dorszewska Jonathan Carr Rosangela Ferese Stefano Gambardella Bruce A. Chase Katerina Markopoulou Wataru Satake Tatsushi Toda Malco Rossi Marcelo Merello Timothy Lynch Diana A. Olszewska Shen‐Yang Lim Azlina Ahmad‐Annuar Ai Huey Tan Bashayer Al‐Mubarak Haşmet Hanağası Dariusz Koziorowski Sibel Ertan Gençer Genç Patrícia de Carvalho Aguiar Melinda Barkhuizen Márcia Mattos Gonçalves Pimentel Rachel Saunders‐Pullman Bart van de Warrenburg Susan Bressman Mathias Toft Silke Appel‐Cresswell Anthony E. Lang Matěj Škorvánek Agnita J.W. Boon Rejko Krüger Esther Sammler Vítor Tumas Baorong Zhang Gaëtan Garraux Sun Ju Chung Yun Joong Kim Juliane Winkelmann Carolyn M. Sue Eng‐King Tan Joana Damásio Péter Klivènyi Vladimir Kostić David Arkadir Mika H. Martikainen Vanderci Borges Jens Michael Hertz Laura Brighina Mariana Spitz Oksana Suchowersky Olaf Rieß Parimal Das Brit Mollenhauer Emilia Gatto Maria Skaalum Petersen Nobutaka Hattori Ruey‐Meei Wu С. Н. Иллариошкин Enza Maria Valente Jan Aasly Anna Aasly Roy N. Alcalay Avner Thaler Matthew J. Farrer Kathrin Brockmann Jean‐Christophe Corvol Christine Klein the MJFF Global Genetic Parkinson's Disease Study Group |
| author_browse | Agnita J.W. Boon Ai Huey Tan Alexander Zimprich Alexis Brice Alícia Garrido Ana Morgadinho Anat Mirelman Andrea A. Kühn Andrea Carmine Belin Andreas Puschmann Anna Aasly Anna De Rosa Anthony E. Lang Avner Thaler Azlina Ahmad‐Annuar Baorong Zhang Bart van de Warrenburg Bashayer Al‐Mubarak Brit Mollenhauer Bruce A. Chase Caroline H. Williams‐Gray Caroline Ran Carolyn M. Sue Cheryl Waters Chin‐Hsien Lin Christelle Tesson Christine Klein Daniela Berg Dariusz Koziorowski David Arkadir David Crosiers Diana A. Olszewska E. Yu. Fedotova Eduardo Tolosa Emilia Gatto Eng‐King Tan Enza Maria Valente Esther Sammler Eva‐Juliane Vollstedt F. Hentati Friederike Borngräber Gaëtan Garraux Gençer Genç George D. Mellick Giuseppe De Michele Grazia Annesi Gregor Kuhlenbäumer Guey‐Jen Lee‐Chen Haşmet Hanağası Isabel Wurster Jan Aasly Jean‐Christophe Corvol Jens Michael Hertz Joana Damásio Joaquim J. Ferreira Jolanta Dorszewska Jonathan Carr Jordi Clarimón Joseph Jankovic Juliane Winkelmann Karen Marder Katerina Markopoulou Kathrin Brockmann Katja Lohmann Kenya Nishioka Laura Brighina Leonidas Stefanis Leonor Correia Guedes Lorraine N. Clark Luis Torres-Ramírez Malco Rossi Manabu Funayama Manuel Menéndez‐González Marcelo Merello Maria Bozi Maria Skaalum Petersen Mariana Spitz Marie Vidailhet Mario Cornejo‐Olivas Marta Camacho Mathias Toft Matthew J. Farrer Matěj Škorvánek Max Borsche Meike Kasten Melinda Barkhuizen Micol Avenali Mika H. Martikainen Ming‐Che Kuo Monica Gagliardi Márcia Mattos Gonçalves Pimentel Natalya Abramycheva Nir Giladi Nobutaka Hattori Norbert Brüggemann Oksana Suchowersky Olaf Rieß Owen A. Ross Pablo Mir Parimal Das Patrícia de Carvalho Aguiar Pichet Termsarasab Pilar Gómez‐Garre Péter Klivènyi Rachel Saunders‐Pullman Rejko Krüger Rosangela Ferese Roy N. Alcalay Ruey‐Meei Wu S. Jesús Maestre Shalini Padmanabhan Shen‐Yang Lim Sibel Ertan Silke Appel‐Cresswell Simona Petrucci Stanley Fahn Stefano Gambardella Sun Ju Chung Susan Bressman Susen Schaake Suzanne Lesage Tatiana Foroud Tatsushi Toda Teeratorn Pulkes Timothy Lynch Vanderci Borges Victoria Álvarez Vladimir Kostić Vítor Tumas Wataru Satake Yih‐Ru Wu Yun Joong Kim Zbigniew K. Wszołek the MJFF Global Genetic Parkinson's Disease Study Group С. Н. Иллариошкин |
| author_facet | Eva‐Juliane Vollstedt Susen Schaake Katja Lohmann Shalini Padmanabhan Alexis Brice Suzanne Lesage Christelle Tesson Marie Vidailhet Isabel Wurster F. Hentati Anat Mirelman Nir Giladi Karen Marder Cheryl Waters Stanley Fahn Meike Kasten Norbert Brüggemann Max Borsche Tatiana Foroud Eduardo Tolosa Alícia Garrido Grazia Annesi Monica Gagliardi Maria Bozi Leonidas Stefanis Joaquim J. Ferreira Leonor Correia Guedes Micol Avenali Simona Petrucci Lorraine N. Clark E. Yu. Fedotova Natalya Abramycheva Victoria Álvarez Manuel Menéndez‐González S. Jesús Maestre Pilar Gómez‐Garre Pablo Mir Andrea Carmine Belin Caroline Ran Chin‐Hsien Lin Ming‐Che Kuo David Crosiers Zbigniew K. Wszołek Owen A. Ross Joseph Jankovic Kenya Nishioka Manabu Funayama Jordi Clarimón Caroline H. Williams‐Gray Marta Camacho Mario Cornejo‐Olivas Luis Torres-Ramírez Yih‐Ru Wu Guey‐Jen Lee‐Chen Ana Morgadinho Teeratorn Pulkes Pichet Termsarasab Daniela Berg Gregor Kuhlenbäumer Andrea A. Kühn Friederike Borngräber Giuseppe De Michele Anna De Rosa Alexander Zimprich Andreas Puschmann George D. Mellick Jolanta Dorszewska Jonathan Carr Rosangela Ferese Stefano Gambardella Bruce A. Chase Katerina Markopoulou Wataru Satake Tatsushi Toda Malco Rossi Marcelo Merello Timothy Lynch Diana A. Olszewska Shen‐Yang Lim Azlina Ahmad‐Annuar Ai Huey Tan Bashayer Al‐Mubarak Haşmet Hanağası Dariusz Koziorowski Sibel Ertan Gençer Genç Patrícia de Carvalho Aguiar Melinda Barkhuizen Márcia Mattos Gonçalves Pimentel Rachel Saunders‐Pullman Bart van de Warrenburg Susan Bressman Mathias Toft Silke Appel‐Cresswell Anthony E. Lang Matěj Škorvánek Agnita J.W. Boon Rejko Krüger Esther Sammler Vítor Tumas Baorong Zhang Gaëtan Garraux Sun Ju Chung Yun Joong Kim Juliane Winkelmann Carolyn M. Sue Eng‐King Tan Joana Damásio Péter Klivènyi Vladimir Kostić David Arkadir Mika H. Martikainen Vanderci Borges Jens Michael Hertz Laura Brighina Mariana Spitz Oksana Suchowersky Olaf Rieß Parimal Das Brit Mollenhauer Emilia Gatto Maria Skaalum Petersen Nobutaka Hattori Ruey‐Meei Wu С. Н. Иллариошкин Enza Maria Valente Jan Aasly Anna Aasly Roy N. Alcalay Avner Thaler Matthew J. Farrer Kathrin Brockmann Jean‐Christophe Corvol Christine Klein the MJFF Global Genetic Parkinson's Disease Study Group |
| author_sort | Eva‐Juliane Vollstedt |
| collection | Producción científica |
| description | BACKGROUND: As gene-targeted therapies are increasingly being developed for Parkinson's disease (PD), identifying and characterizing carriers of specific genetic pathogenic variants is imperative. Only a small fraction of the estimated number of subjects with monogenic PD worldwide are currently represented in the literature and availability of clinical data and clinical trial-ready cohorts is limited. OBJECTIVE: The objectives are to (1) establish an international cohort of affected and unaffected individuals with PD-linked variants; (2) provide harmonized and quality-controlled clinical characterization data for each included individual; and (3) further promote collaboration of researchers in the field of monogenic PD. METHODS: We conducted a worldwide, systematic online survey to collect individual-level data on individuals with PD-linked variants in SNCA, LRRK2, VPS35, PRKN, PINK1, DJ-1, as well as selected pathogenic and risk variants in GBA and corresponding demographic, clinical, and genetic data. All registered cases underwent thorough quality checks, and pathogenicity scoring of the variants and genotype-phenotype relationships were analyzed. RESULTS: We collected 3888 variant carriers for our analyses, reported by 92 centers (42 countries) worldwide. Of the included individuals, 3185 had a diagnosis of PD (ie, 1306 LRRK2, 115 SNCA, 23 VPS35, 429 PRKN, 75 PINK1, 13 DJ-1, and 1224 GBA) and 703 were unaffected (ie, 328 LRRK2, 32 SNCA, 3 VPS35, 1 PRKN, 1 PINK1, and 338 GBA). In total, we identified 269 different pathogenic variants; 1322 individuals in our cohort (34%) were indicated as not previously published. CONCLUSIONS: Within the MJFF Global Genetic PD Study Group, we (1) established the largest international cohort of affected and unaffected individuals carrying PD-linked variants; (2) provide harmonized and quality-controlled clinical and genetic data for each included individual; (3) promote collaboration in the field of genetic PD with a view toward clinical and genetic stratification of patients for gene-targeted clinical trials. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. |
| format | Article |
| id | oai:cris.upeu.edu.pe:20.500.15037/1589 |
| institution | UPeU |
| language | English |
| publishDate | 2023 |
| publishDateRange | 2023 |
| publishDateSort | 2023 |
| record_format | dspace |
| spelling | oai:cris.upeu.edu.pe:20.500.15037/15892026-10-30T16:16:12ZEmbracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD CohortEva‐Juliane VollstedtSusen SchaakeKatja LohmannShalini PadmanabhanAlexis BriceSuzanne LesageChristelle TessonMarie VidailhetIsabel WursterF. HentatiAnat MirelmanNir GiladiKaren MarderCheryl WatersStanley FahnMeike KastenNorbert BrüggemannMax BorscheTatiana ForoudEduardo TolosaAlícia GarridoGrazia AnnesiMonica GagliardiMaria BoziLeonidas StefanisJoaquim J. FerreiraLeonor Correia GuedesMicol AvenaliSimona PetrucciLorraine N. ClarkE. Yu. FedotovaNatalya AbramychevaVictoria ÁlvarezManuel Menéndez‐GonzálezS. Jesús MaestrePilar Gómez‐GarrePablo MirAndrea Carmine BelinCaroline RanChin‐Hsien LinMing‐Che KuoDavid CrosiersZbigniew K. WszołekOwen A. RossJoseph JankovicKenya NishiokaManabu FunayamaJordi ClarimónCaroline H. Williams‐GrayMarta CamachoMario Cornejo‐OlivasLuis Torres-RamírezYih‐Ru WuGuey‐Jen Lee‐ChenAna MorgadinhoTeeratorn PulkesPichet TermsarasabDaniela BergGregor KuhlenbäumerAndrea A. KühnFriederike BorngräberGiuseppe De MicheleAnna De RosaAlexander ZimprichAndreas PuschmannGeorge D. MellickJolanta DorszewskaJonathan CarrRosangela FereseStefano GambardellaBruce A. ChaseKaterina MarkopoulouWataru SatakeTatsushi TodaMalco RossiMarcelo MerelloTimothy LynchDiana A. OlszewskaShen‐Yang LimAzlina Ahmad‐AnnuarAi Huey TanBashayer Al‐MubarakHaşmet HanağasıDariusz KoziorowskiSibel ErtanGençer GençPatrícia de Carvalho AguiarMelinda BarkhuizenMárcia Mattos Gonçalves PimentelRachel Saunders‐PullmanBart van de WarrenburgSusan BressmanMathias ToftSilke Appel‐CresswellAnthony E. LangMatěj ŠkorvánekAgnita J.W. BoonRejko KrügerEsther SammlerVítor TumasBaorong ZhangGaëtan GarrauxSun Ju ChungYun Joong KimJuliane WinkelmannCarolyn M. SueEng‐King TanJoana DamásioPéter KlivènyiVladimir KostićDavid ArkadirMika H. MartikainenVanderci BorgesJens Michael HertzLaura BrighinaMariana SpitzOksana SuchowerskyOlaf RießParimal DasBrit MollenhauerEmilia GattoMaria Skaalum PetersenNobutaka HattoriRuey‐Meei WuС. Н. ИллариошкинEnza Maria ValenteJan AaslyAnna AaslyRoy N. AlcalayAvner ThalerMatthew J. FarrerKathrin BrockmannJean‐Christophe CorvolChristine Kleinthe MJFF Global Genetic Parkinson's Disease Study GroupParkinson's diseaseCohortDiseaseMedicineNeuroscienceGeneticsPsychologyBiologyInternal medicineParkinson's diseaseCohortDiseaseMedicineNeuroscienceGeneticsPsychologyBiologyInternal medicineHumansHumansHumansHumansHumansMutationMutationMutationMutationMutationParkinson Disease geneticsParkinson Disease geneticsParkinson Disease geneticsParkinson Disease geneticsParkinson Disease geneticsHealth Sciences Medicine Neurology Parkinson's Disease Mechanisms and TreatmentsLife Sciences Biochemistry, Genetics and Molecular Biology Genetics Genomics and Rare DiseasesLife Sciences Biochemistry, Genetics and Molecular Biology Genetics BRCA gene mutations in cancerBACKGROUND: As gene-targeted therapies are increasingly being developed for Parkinson's disease (PD), identifying and characterizing carriers of specific genetic pathogenic variants is imperative. Only a small fraction of the estimated number of subjects with monogenic PD worldwide are currently represented in the literature and availability of clinical data and clinical trial-ready cohorts is limited. OBJECTIVE: The objectives are to (1) establish an international cohort of affected and unaffected individuals with PD-linked variants; (2) provide harmonized and quality-controlled clinical characterization data for each included individual; and (3) further promote collaboration of researchers in the field of monogenic PD. METHODS: We conducted a worldwide, systematic online survey to collect individual-level data on individuals with PD-linked variants in SNCA, LRRK2, VPS35, PRKN, PINK1, DJ-1, as well as selected pathogenic and risk variants in GBA and corresponding demographic, clinical, and genetic data. All registered cases underwent thorough quality checks, and pathogenicity scoring of the variants and genotype-phenotype relationships were analyzed. RESULTS: We collected 3888 variant carriers for our analyses, reported by 92 centers (42 countries) worldwide. Of the included individuals, 3185 had a diagnosis of PD (ie, 1306 LRRK2, 115 SNCA, 23 VPS35, 429 PRKN, 75 PINK1, 13 DJ-1, and 1224 GBA) and 703 were unaffected (ie, 328 LRRK2, 32 SNCA, 3 VPS35, 1 PRKN, 1 PINK1, and 338 GBA). In total, we identified 269 different pathogenic variants; 1322 individuals in our cohort (34%) were indicated as not previously published. CONCLUSIONS: Within the MJFF Global Genetic PD Study Group, we (1) established the largest international cohort of affected and unaffected individuals carrying PD-linked variants; (2) provide harmonized and quality-controlled clinical and genetic data for each included individual; (3) promote collaboration in the field of genetic PD with a view toward clinical and genetic stratification of patients for gene-targeted clinical trials. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.Articlehttps://pubmed.ncbi.nlm.nih.gov/36692014https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/mds.29288https://doi.org/10.1002/mds.2928810.1002/mds.29288https://hdl.handle.net/20.500.15037/1589W4317870343enMovement Disorders0885-31851531-82572023-01-242026-06-13T14:15:05Z2026-06-13T14:15:05Z |
| spellingShingle | Parkinson's disease Cohort Disease Medicine Neuroscience Genetics Psychology Biology Internal medicine Parkinson's disease Cohort Disease Medicine Neuroscience Genetics Psychology Biology Internal medicine Humans Humans Humans Humans Humans Mutation Mutation Mutation Mutation Mutation Parkinson Disease genetics Parkinson Disease genetics Parkinson Disease genetics Parkinson Disease genetics Parkinson Disease genetics Health Sciences Medicine Neurology Parkinson's Disease Mechanisms and Treatments Life Sciences Biochemistry, Genetics and Molecular Biology Genetics Genomics and Rare Diseases Life Sciences Biochemistry, Genetics and Molecular Biology Genetics BRCA gene mutations in cancer Eva‐Juliane Vollstedt Susen Schaake Katja Lohmann Shalini Padmanabhan Alexis Brice Suzanne Lesage Christelle Tesson Marie Vidailhet Isabel Wurster F. Hentati Anat Mirelman Nir Giladi Karen Marder Cheryl Waters Stanley Fahn Meike Kasten Norbert Brüggemann Max Borsche Tatiana Foroud Eduardo Tolosa Alícia Garrido Grazia Annesi Monica Gagliardi Maria Bozi Leonidas Stefanis Joaquim J. Ferreira Leonor Correia Guedes Micol Avenali Simona Petrucci Lorraine N. Clark E. Yu. Fedotova Natalya Abramycheva Victoria Álvarez Manuel Menéndez‐González S. Jesús Maestre Pilar Gómez‐Garre Pablo Mir Andrea Carmine Belin Caroline Ran Chin‐Hsien Lin Ming‐Che Kuo David Crosiers Zbigniew K. Wszołek Owen A. Ross Joseph Jankovic Kenya Nishioka Manabu Funayama Jordi Clarimón Caroline H. Williams‐Gray Marta Camacho Mario Cornejo‐Olivas Luis Torres-Ramírez Yih‐Ru Wu Guey‐Jen Lee‐Chen Ana Morgadinho Teeratorn Pulkes Pichet Termsarasab Daniela Berg Gregor Kuhlenbäumer Andrea A. Kühn Friederike Borngräber Giuseppe De Michele Anna De Rosa Alexander Zimprich Andreas Puschmann George D. Mellick Jolanta Dorszewska Jonathan Carr Rosangela Ferese Stefano Gambardella Bruce A. Chase Katerina Markopoulou Wataru Satake Tatsushi Toda Malco Rossi Marcelo Merello Timothy Lynch Diana A. Olszewska Shen‐Yang Lim Azlina Ahmad‐Annuar Ai Huey Tan Bashayer Al‐Mubarak Haşmet Hanağası Dariusz Koziorowski Sibel Ertan Gençer Genç Patrícia de Carvalho Aguiar Melinda Barkhuizen Márcia Mattos Gonçalves Pimentel Rachel Saunders‐Pullman Bart van de Warrenburg Susan Bressman Mathias Toft Silke Appel‐Cresswell Anthony E. Lang Matěj Škorvánek Agnita J.W. Boon Rejko Krüger Esther Sammler Vítor Tumas Baorong Zhang Gaëtan Garraux Sun Ju Chung Yun Joong Kim Juliane Winkelmann Carolyn M. Sue Eng‐King Tan Joana Damásio Péter Klivènyi Vladimir Kostić David Arkadir Mika H. Martikainen Vanderci Borges Jens Michael Hertz Laura Brighina Mariana Spitz Oksana Suchowersky Olaf Rieß Parimal Das Brit Mollenhauer Emilia Gatto Maria Skaalum Petersen Nobutaka Hattori Ruey‐Meei Wu С. Н. Иллариошкин Enza Maria Valente Jan Aasly Anna Aasly Roy N. Alcalay Avner Thaler Matthew J. Farrer Kathrin Brockmann Jean‐Christophe Corvol Christine Klein the MJFF Global Genetic Parkinson's Disease Study Group Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort |
| title | Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort |
| title_full | Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort |
| title_fullStr | Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort |
| title_full_unstemmed | Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort |
| title_short | Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort |
| title_sort | embracing monogenic parkinson apos s disease the mjff global genetic pd cohort |
| topic | Parkinson's disease Cohort Disease Medicine Neuroscience Genetics Psychology Biology Internal medicine Parkinson's disease Cohort Disease Medicine Neuroscience Genetics Psychology Biology Internal medicine Humans Humans Humans Humans Humans Mutation Mutation Mutation Mutation Mutation Parkinson Disease genetics Parkinson Disease genetics Parkinson Disease genetics Parkinson Disease genetics Parkinson Disease genetics Health Sciences Medicine Neurology Parkinson's Disease Mechanisms and Treatments Life Sciences Biochemistry, Genetics and Molecular Biology Genetics Genomics and Rare Diseases Life Sciences Biochemistry, Genetics and Molecular Biology Genetics BRCA gene mutations in cancer |
| topic_facet | Parkinson's disease Cohort Disease Medicine Neuroscience Genetics Psychology Biology Internal medicine Parkinson's disease Cohort Disease Medicine Neuroscience Genetics Psychology Biology Internal medicine Humans Humans Humans Humans Humans Mutation Mutation Mutation Mutation Mutation Parkinson Disease genetics Parkinson Disease genetics Parkinson Disease genetics Parkinson Disease genetics Parkinson Disease genetics Health Sciences Medicine Neurology Parkinson's Disease Mechanisms and Treatments Life Sciences Biochemistry, Genetics and Molecular Biology Genetics Genomics and Rare Diseases Life Sciences Biochemistry, Genetics and Molecular Biology Genetics BRCA gene mutations in cancer |
| url | https://pubmed.ncbi.nlm.nih.gov/36692014 https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/mds.29288 https://doi.org/10.1002/mds.29288 https://hdl.handle.net/20.500.15037/1589 |
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