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| Home > Publications Database > Common variants in Alzheimer's disease and risk stratification by polygenic risk scores. > print |
| 001 | 155272 | ||
| 005 | 20240826165939.0 | ||
| 024 | 7 | _ | |a 10.1038/s41467-021-22491-8 |2 doi |
| 024 | 7 | _ | |a pmid:34099642 |2 pmid |
| 024 | 7 | _ | |a pmc:PMC8184987 |2 pmc |
| 024 | 7 | _ | |a altmetric:107221888 |2 altmetric |
| 037 | _ | _ | |a DZNE-2021-00552 |
| 041 | _ | _ | |a English |
| 082 | _ | _ | |a 500 |
| 100 | 1 | _ | |a de Rojas, Itziar |0 0000-0002-2148-381X |b 0 |
| 245 | _ | _ | |a Common variants in Alzheimer's disease and risk stratification by polygenic risk scores. |
| 260 | _ | _ | |a [London] |c 2021 |b Nature Publishing Group UK |
| 336 | 7 | _ | |a article |2 DRIVER |
| 336 | 7 | _ | |a Output Types/Journal article |2 DataCite |
| 336 | 7 | _ | |a Journal Article |b journal |m journal |0 PUB:(DE-HGF)16 |s 1709567836_22644 |2 PUB:(DE-HGF) |
| 336 | 7 | _ | |a ARTICLE |2 BibTeX |
| 336 | 7 | _ | |a JOURNAL_ARTICLE |2 ORCID |
| 336 | 7 | _ | |a Journal Article |0 0 |2 EndNote |
| 520 | _ | _ | |a Genetic discoveries of Alzheimer's disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical trials. We first perform a large genetic association study by merging all available case-control datasets and by-proxy study results (discovery n = 409,435 and validation size n = 58,190). Here, we add six variants associated with Alzheimer's disease risk (near APP, CHRNE, PRKD3/NDUFAF7, PLCG2 and two exonic variants in the SHARPIN gene). Assessment of the polygenic risk score and stratifying by APOE reveal a 4 to 5.5 years difference in median age at onset of Alzheimer's disease patients in APOE ɛ4 carriers. Because of this study, the underlying mechanisms of APP can be studied to refine the amyloid cascade and the polygenic risk score provides a tool to select individuals at high risk of Alzheimer's disease. |
| 536 | _ | _ | |a 353 - Clinical and Health Care Research (POF4-353) |0 G:(DE-HGF)POF4-353 |c POF4-353 |f POF IV |x 0 |
| 536 | _ | _ | |a 351 - Brain Function (POF4-351) |0 G:(DE-HGF)POF4-351 |c POF4-351 |f POF IV |x 1 |
| 588 | _ | _ | |a Dataset connected to CrossRef, PubMed, , Journals: pub.dzne.de |
| 650 | _ | 7 | |a APP protein, human |2 NLM Chemicals |
| 650 | _ | 7 | |a Amyloid beta-Protein Precursor |2 NLM Chemicals |
| 650 | _ | 7 | |a Apolipoproteins E |2 NLM Chemicals |
| 650 | _ | 2 | |a Age of Onset |2 MeSH |
| 650 | _ | 2 | |a Aged |2 MeSH |
| 650 | _ | 2 | |a Aged, 80 and over |2 MeSH |
| 650 | _ | 2 | |a Alzheimer Disease: epidemiology |2 MeSH |
| 650 | _ | 2 | |a Alzheimer Disease: genetics |2 MeSH |
| 650 | _ | 2 | |a Alzheimer Disease: pathology |2 MeSH |
| 650 | _ | 2 | |a Amyloid beta-Protein Precursor: genetics |2 MeSH |
| 650 | _ | 2 | |a Amyloid beta-Protein Precursor: metabolism |2 MeSH |
| 650 | _ | 2 | |a Apolipoproteins E: genetics |2 MeSH |
| 650 | _ | 2 | |a Case-Control Studies |2 MeSH |
| 650 | _ | 2 | |a Cohort Studies |2 MeSH |
| 650 | _ | 2 | |a Datasets as Topic |2 MeSH |
| 650 | _ | 2 | |a Female |2 MeSH |
| 650 | _ | 2 | |a Follow-Up Studies |2 MeSH |
| 650 | _ | 2 | |a Genetic Predisposition to Disease |2 MeSH |
| 650 | _ | 2 | |a Genome-Wide Association Study |2 MeSH |
| 650 | _ | 2 | |a Heterozygote |2 MeSH |
| 650 | _ | 2 | |a Humans |2 MeSH |
| 650 | _ | 2 | |a Male |2 MeSH |
| 650 | _ | 2 | |a Middle Aged |2 MeSH |
| 650 | _ | 2 | |a Multifactorial Inheritance |2 MeSH |
| 650 | _ | 2 | |a Polymorphism, Single Nucleotide |2 MeSH |
| 650 | _ | 2 | |a Risk Assessment: methods |2 MeSH |
| 650 | _ | 2 | |a Risk Factors |2 MeSH |
| 700 | 1 | _ | |a Moreno-Grau, Sonia |0 P:(DE-HGF)0 |b 1 |
| 700 | 1 | _ | |a Tesi, Niccolo |0 P:(DE-HGF)0 |b 2 |
| 700 | 1 | _ | |a Grenier-Boley, Benjamin |0 P:(DE-HGF)0 |b 3 |
| 700 | 1 | _ | |a Andrade, Victor |0 P:(DE-HGF)0 |b 4 |
| 700 | 1 | _ | |a Jansen, Iris |0 P:(DE-2719)2813349 |b 5 |
| 700 | 1 | _ | |a Pedersen, Nancy L |0 P:(DE-HGF)0 |b 6 |
| 700 | 1 | _ | |a Stringa, Najada |0 0000-0001-6350-452X |b 7 |
| 700 | 1 | _ | |a Zettergren, Anna |0 0000-0002-7182-8417 |b 8 |
| 700 | 1 | _ | |a Hernández, Isabel |0 P:(DE-HGF)0 |b 9 |
| 700 | 1 | _ | |a Montrreal, Laura |0 P:(DE-HGF)0 |b 10 |
| 700 | 1 | _ | |a Antúnez, Carmen |0 P:(DE-HGF)0 |b 11 |
| 700 | 1 | _ | |a Antonell, Anna |0 P:(DE-HGF)0 |b 12 |
| 700 | 1 | _ | |a Tankard, Rick M |0 0000-0002-8847-9401 |b 13 |
| 700 | 1 | _ | |a Bis, Joshua C |0 P:(DE-HGF)0 |b 14 |
| 700 | 1 | _ | |a Sims, Rebecca |0 0000-0002-3885-1199 |b 15 |
| 700 | 1 | _ | |a Bellenguez, Céline |0 0000-0002-1240-7874 |b 16 |
| 700 | 1 | _ | |a Quintela, Inés |0 P:(DE-HGF)0 |b 17 |
| 700 | 1 | _ | |a González-Perez, Antonio |0 P:(DE-HGF)0 |b 18 |
| 700 | 1 | _ | |a Calero, Miguel |0 0000-0001-5366-3324 |b 19 |
| 700 | 1 | _ | |a Franco-Macías, Emilio |0 P:(DE-HGF)0 |b 20 |
| 700 | 1 | _ | |a Macías, Juan |0 P:(DE-HGF)0 |b 21 |
| 700 | 1 | _ | |a Blesa, Rafael |0 P:(DE-HGF)0 |b 22 |
| 700 | 1 | _ | |a Cervera-Carles, Laura |0 0000-0003-2286-200X |b 23 |
| 700 | 1 | _ | |a Menéndez-González, Manuel |0 0000-0002-5218-0774 |b 24 |
| 700 | 1 | _ | |a Frank-García, Ana |0 P:(DE-HGF)0 |b 25 |
| 700 | 1 | _ | |a Royo, Jose Luís |0 P:(DE-HGF)0 |b 26 |
| 700 | 1 | _ | |a Moreno, Fermin |0 P:(DE-HGF)0 |b 27 |
| 700 | 1 | _ | |a Huerto Vilas, Raquel |0 P:(DE-HGF)0 |b 28 |
| 700 | 1 | _ | |a Baquero, Miquel |0 P:(DE-HGF)0 |b 29 |
| 700 | 1 | _ | |a Diez-Fairen, Mónica |0 0000-0003-1882-0309 |b 30 |
| 700 | 1 | _ | |a Lage, Carmen |0 0000-0003-1703-121X |b 31 |
| 700 | 1 | _ | |a García-Madrona, Sebastián |0 P:(DE-HGF)0 |b 32 |
| 700 | 1 | _ | |a García-González, Pablo |0 0000-0003-0125-5403 |b 33 |
| 700 | 1 | _ | |a Alarcón-Martín, Emilio |0 P:(DE-HGF)0 |b 34 |
| 700 | 1 | _ | |a Valero, Sergi |0 P:(DE-HGF)0 |b 35 |
| 700 | 1 | _ | |a Sotolongo-Grau, Oscar |0 P:(DE-HGF)0 |b 36 |
| 700 | 1 | _ | |a Ullgren, Abbe |0 P:(DE-HGF)0 |b 37 |
| 700 | 1 | _ | |a Naj, Adam C |0 P:(DE-HGF)0 |b 38 |
| 700 | 1 | _ | |a Lemstra, Afina W |0 P:(DE-HGF)0 |b 39 |
| 700 | 1 | _ | |a Benaque, Alba |0 P:(DE-HGF)0 |b 40 |
| 700 | 1 | _ | |a Pérez-Cordón, Alba |0 0000-0002-6028-0791 |b 41 |
| 700 | 1 | _ | |a Benussi, Alberto |0 0000-0002-8703-6940 |b 42 |
| 700 | 1 | _ | |a Rábano, Alberto |0 P:(DE-HGF)0 |b 43 |
| 700 | 1 | _ | |a Padovani, Alessandro |0 P:(DE-HGF)0 |b 44 |
| 700 | 1 | _ | |a Squassina, Alessio |0 0000-0001-7415-7607 |b 45 |
| 700 | 1 | _ | |a de Mendonça, Alexandre |0 P:(DE-HGF)0 |b 46 |
| 700 | 1 | _ | |a Arias Pastor, Alfonso |0 P:(DE-HGF)0 |b 47 |
| 700 | 1 | _ | |a Kok, Almar A L |0 P:(DE-HGF)0 |b 48 |
| 700 | 1 | _ | |a Meggy, Alun |0 P:(DE-HGF)0 |b 49 |
| 700 | 1 | _ | |a Pastor, Ana Belén |0 0000-0001-9637-4688 |b 50 |
| 700 | 1 | _ | |a Espinosa, Ana |0 P:(DE-HGF)0 |b 51 |
| 700 | 1 | _ | |a Corma-Gómez, Anaïs |0 P:(DE-HGF)0 |b 52 |
| 700 | 1 | _ | |a Martín Montes, Angel |0 0000-0002-1694-786X |b 53 |
| 700 | 1 | _ | |a Sanabria, Ángela |0 P:(DE-HGF)0 |b 54 |
| 700 | 1 | _ | |a DeStefano, Anita L |0 P:(DE-HGF)0 |b 55 |
| 700 | 1 | _ | |a Schneider, Anja |0 P:(DE-2719)2812035 |b 56 |
| 700 | 1 | _ | |a Haapasalo, Annakaisa |0 0000-0003-0959-2957 |b 57 |
| 700 | 1 | _ | |a Kinhult Ståhlbom, Anne |0 P:(DE-HGF)0 |b 58 |
| 700 | 1 | _ | |a Tybjærg-Hansen, Anne |0 P:(DE-HGF)0 |b 59 |
| 700 | 1 | _ | |a Hartmann, Annette M |0 P:(DE-HGF)0 |b 60 |
| 700 | 1 | _ | |a Spottke, Annika |0 P:(DE-2719)2811324 |b 61 |
| 700 | 1 | _ | |a Corbatón-Anchuelo, Arturo |0 P:(DE-HGF)0 |b 62 |
| 700 | 1 | _ | |a Rongve, Arvid |0 0000-0002-0476-4134 |b 63 |
| 700 | 1 | _ | |a Borroni, Barbara |0 P:(DE-HGF)0 |b 64 |
| 700 | 1 | _ | |a Arosio, Beatrice |0 P:(DE-HGF)0 |b 65 |
| 700 | 1 | _ | |a Nacmias, Benedetta |0 0000-0001-9338-9040 |b 66 |
| 700 | 1 | _ | |a Nordestgaard, Børge G |0 0000-0002-1954-7220 |b 67 |
| 700 | 1 | _ | |a Kunkle, Brian W |0 P:(DE-HGF)0 |b 68 |
| 700 | 1 | _ | |a Charbonnier, Camille |0 P:(DE-HGF)0 |b 69 |
| 700 | 1 | _ | |a Abdelnour, Carla |0 P:(DE-HGF)0 |b 70 |
| 700 | 1 | _ | |a Masullo, Carlo |0 P:(DE-HGF)0 |b 71 |
| 700 | 1 | _ | |a Martínez Rodríguez, Carmen |0 P:(DE-HGF)0 |b 72 |
| 700 | 1 | _ | |a Muñoz-Fernandez, Carmen |0 P:(DE-HGF)0 |b 73 |
| 700 | 1 | _ | |a Dufouil, Carole |0 P:(DE-HGF)0 |b 74 |
| 700 | 1 | _ | |a Graff, Caroline |0 P:(DE-HGF)0 |b 75 |
| 700 | 1 | _ | |a Ferreira, Catarina B |0 P:(DE-HGF)0 |b 76 |
| 700 | 1 | _ | |a Chillotti, Caterina |0 P:(DE-HGF)0 |b 77 |
| 700 | 1 | _ | |a Reynolds, Chandra A |0 0000-0001-6502-7173 |b 78 |
| 700 | 1 | _ | |a Fenoglio, Chiara |0 P:(DE-HGF)0 |b 79 |
| 700 | 1 | _ | |a Van Broeckhoven, Christine |0 0000-0003-0183-7665 |b 80 |
| 700 | 1 | _ | |a Clark, Christopher |0 0000-0001-7210-7702 |b 81 |
| 700 | 1 | _ | |a Pisanu, Claudia |0 0000-0002-9151-4319 |b 82 |
| 700 | 1 | _ | |a Satizabal, Claudia L |0 0000-0002-1115-4430 |b 83 |
| 700 | 1 | _ | |a Holmes, Clive |0 P:(DE-HGF)0 |b 84 |
| 700 | 1 | _ | |a Buiza-Rueda, Dolores |0 P:(DE-HGF)0 |b 85 |
| 700 | 1 | _ | |a Aarsland, Dag |0 0000-0001-6314-216X |b 86 |
| 700 | 1 | _ | |a Rujescu, Dan |0 P:(DE-HGF)0 |b 87 |
| 700 | 1 | _ | |a Alcolea, Daniel |0 0000-0002-3819-3245 |b 88 |
| 700 | 1 | _ | |a Galimberti, Daniela |0 0000-0002-9284-5953 |b 89 |
| 700 | 1 | _ | |a Wallon, David |0 0000-0002-2634-7198 |b 90 |
| 700 | 1 | _ | |a Seripa, Davide |0 P:(DE-HGF)0 |b 91 |
| 700 | 1 | _ | |a Grünblatt, Edna |0 0000-0001-8505-7265 |b 92 |
| 700 | 1 | _ | |a Dardiotis, Efthimios |0 P:(DE-HGF)0 |b 93 |
| 700 | 1 | _ | |a Düzel, Emrah |0 P:(DE-2719)2000005 |b 94 |
| 700 | 1 | _ | |a Scarpini, Elio |0 P:(DE-HGF)0 |b 95 |
| 700 | 1 | _ | |a Conti, Elisa |0 P:(DE-HGF)0 |b 96 |
| 700 | 1 | _ | |a Rubino, Elisa |0 P:(DE-HGF)0 |b 97 |
| 700 | 1 | _ | |a Gelpi, Ellen |0 P:(DE-HGF)0 |b 98 |
| 700 | 1 | _ | |a Rodriguez-Rodriguez, Eloy |0 0000-0001-7742-677X |b 99 |
| 700 | 1 | _ | |a Duron, Emmanuelle |0 P:(DE-HGF)0 |b 100 |
| 700 | 1 | _ | |a Boerwinkle, Eric |0 P:(DE-HGF)0 |b 101 |
| 700 | 1 | _ | |a Ferri, Evelyn |0 P:(DE-HGF)0 |b 102 |
| 700 | 1 | _ | |a Tagliavini, Fabrizio |0 P:(DE-HGF)0 |b 103 |
| 700 | 1 | _ | |a Küçükali, Fahri |0 0000-0002-3835-9639 |b 104 |
| 700 | 1 | _ | |a Pasquier, Florence |0 0000-0001-9880-9788 |b 105 |
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| 700 | 1 | _ | |a Jessen, Frank |0 P:(DE-2719)2000032 |b 108 |
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| 700 | 1 | _ | |a Selbæk, Geir |0 0000-0001-6511-8219 |b 110 |
| 700 | 1 | _ | |a Ortega, Gemma |0 P:(DE-HGF)0 |b 111 |
| 700 | 1 | _ | |a Chêne, Geneviève |0 P:(DE-HGF)0 |b 112 |
| 700 | 1 | _ | |a Hadjigeorgiou, Georgios |0 P:(DE-HGF)0 |b 113 |
| 700 | 1 | _ | |a Rossi, Giacomina |0 P:(DE-HGF)0 |b 114 |
| 700 | 1 | _ | |a Spalletta, Gianfranco |0 P:(DE-HGF)0 |b 115 |
| 700 | 1 | _ | |a Giaccone, Giorgio |0 P:(DE-HGF)0 |b 116 |
| 700 | 1 | _ | |a Grande, Giulia |0 P:(DE-HGF)0 |b 117 |
| 700 | 1 | _ | |a Binetti, Giuliano |0 P:(DE-HGF)0 |b 118 |
| 700 | 1 | _ | |a Papenberg, Goran |0 P:(DE-HGF)0 |b 119 |
| 700 | 1 | _ | |a Hampel, Harald |0 P:(DE-HGF)0 |b 120 |
| 700 | 1 | _ | |a Bailly, Henri |0 P:(DE-HGF)0 |b 121 |
| 700 | 1 | _ | |a Zetterberg, Henrik |0 0000-0003-3930-4354 |b 122 |
| 700 | 1 | _ | |a Soininen, Hilkka |0 0000-0002-2785-9937 |b 123 |
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| 700 | 1 | _ | |a Alvarez, Ignacio |0 0000-0002-8537-3935 |b 125 |
| 700 | 1 | _ | |a Appollonio, Ildebrando |0 P:(DE-HGF)0 |b 126 |
| 700 | 1 | _ | |a Giegling, Ina |0 P:(DE-HGF)0 |b 127 |
| 700 | 1 | _ | |a Skoog, Ingmar |0 P:(DE-HGF)0 |b 128 |
| 700 | 1 | _ | |a Saltvedt, Ingvild |0 0000-0002-7897-9808 |b 129 |
| 700 | 1 | _ | |a Rainero, Innocenzo |0 P:(DE-HGF)0 |b 130 |
| 700 | 1 | _ | |a Rosas Allende, Irene |0 P:(DE-HGF)0 |b 131 |
| 700 | 1 | _ | |a Hort, Jakub |0 P:(DE-HGF)0 |b 132 |
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| 700 | 1 | _ | |a Wiltfang, Jens |0 P:(DE-2719)2811317 |b 137 |
| 700 | 1 | _ | |a Thomassen, Jesper Qvist |0 P:(DE-HGF)0 |b 138 |
| 700 | 1 | _ | |a Kornhuber, Johannes |0 0000-0002-8096-3987 |b 139 |
| 700 | 1 | _ | |a Haines, Jonathan L |0 0000-0002-4351-4728 |b 140 |
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| 700 | 1 | _ | |a Deckert, Jürgen |0 P:(DE-HGF)0 |b 145 |
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| 700 | 1 | _ | |a Morgan, Kevin |0 0000-0002-8217-2396 |b 147 |
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| 700 | 1 | _ | |a Weinhold, Leonie |0 P:(DE-HGF)0 |b 152 |
| 700 | 1 | _ | |a Farrer, Lindsay A |0 0000-0001-5533-4225 |b 153 |
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| 700 | 1 | _ | |a Rosende-Roca, Maitée |0 P:(DE-HGF)0 |b 165 |
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| 700 | 1 | _ | |a Bernal Sánchez-Arjona, María |0 P:(DE-HGF)0 |b 171 |
| 700 | 1 | _ | |a Dalmasso, Maria Carolina |0 P:(DE-HGF)0 |b 172 |
| 700 | 1 | _ | |a Martínez-Larrad, María Teresa |0 P:(DE-HGF)0 |b 173 |
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| 700 | 1 | _ | |a Fernández-Fuertes, Marta |0 P:(DE-HGF)0 |b 176 |
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| 700 | 1 | _ | |a Herrmann, Martin J |0 P:(DE-HGF)0 |b 179 |
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| 700 | 1 | _ | |a Vyhnalek, Martin |0 P:(DE-HGF)0 |b 181 |
| 700 | 1 | _ | |a Kosmidis, Mary H |0 P:(DE-HGF)0 |b 182 |
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| 700 | 1 | _ | |a Schmid, Matthias |0 P:(DE-2719)2811245 |b 184 |
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| 700 | 1 | _ | |a Kivipelto, Miia |0 P:(DE-HGF)0 |b 189 |
| 700 | 1 | _ | |a Hiltunen, Mikko |0 P:(DE-HGF)0 |b 190 |
| 700 | 1 | _ | |a Zulaica, Miren |0 P:(DE-HGF)0 |b 191 |
| 700 | 1 | _ | |a Alegret, Montserrat |0 P:(DE-HGF)0 |b 192 |
| 700 | 1 | _ | |a Fornage, Myriam |0 P:(DE-HGF)0 |b 193 |
| 700 | 1 | _ | |a Roberto, Natalia |0 P:(DE-HGF)0 |b 194 |
| 700 | 1 | _ | |a van Schoor, Natasja M |0 P:(DE-HGF)0 |b 195 |
| 700 | 1 | _ | |a Seidu, Nazib M |0 P:(DE-HGF)0 |b 196 |
| 700 | 1 | _ | |a Banaj, Nerisa |0 P:(DE-HGF)0 |b 197 |
| 700 | 1 | _ | |a Armstrong, Nicola J |0 P:(DE-HGF)0 |b 198 |
| 700 | 1 | _ | |a Scarmeas, Nikolaos |0 P:(DE-HGF)0 |b 199 |
| 700 | 1 | _ | |a Scherbaum, Norbert |0 P:(DE-HGF)0 |b 200 |
| 700 | 1 | _ | |a Goldhardt, Oliver |0 P:(DE-HGF)0 |b 201 |
| 700 | 1 | _ | |a Hanon, Oliver |0 P:(DE-HGF)0 |b 202 |
| 700 | 1 | _ | |a Peters, Oliver |0 P:(DE-2719)2811024 |b 203 |
| 700 | 1 | _ | |a Skrobot, Olivia Anna |0 P:(DE-HGF)0 |b 204 |
| 700 | 1 | _ | |a Quenez, Olivier |0 0000-0002-8273-8505 |b 205 |
| 700 | 1 | _ | |a Lerch, Ondrej |0 P:(DE-HGF)0 |b 206 |
| 700 | 1 | _ | |a Bossù, Paola |0 0000-0002-1432-0078 |b 207 |
| 700 | 1 | _ | |a Caffarra, Paolo |0 P:(DE-HGF)0 |b 208 |
| 700 | 1 | _ | |a Dionigi Rossi, Paolo |0 P:(DE-HGF)0 |b 209 |
| 700 | 1 | _ | |a Sakka, Paraskevi |0 P:(DE-HGF)0 |b 210 |
| 700 | 1 | _ | |a Hoffmann, Per |0 P:(DE-HGF)0 |b 211 |
| 700 | 1 | _ | |a Holmans, Peter A |0 0000-0003-0870-9412 |b 212 |
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| 700 | 1 | _ | |a Riederer, Peter |0 P:(DE-HGF)0 |b 214 |
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