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3. Genotype–phenotype correlation in PRKN-associated Parkinson’s disease

Author

Menon, Poornima Jayadev, Sambin, Sara, Criniere-Boizet, Baptiste, Courtin, Thomas, Tesson, Christelle, Casse, Fanny, Ferrien, Melanie, Mariani, Louise-Laure, Carvalho, Stephanie, Lejeune, Francois-Xavier, Rebbah, Sana, Martet, Gaspard, Houot, Marion, Lanore, Aymeric, Mangone, Graziella, Roze, Emmanuel, Vidailhet, Marie, Aasly, Jan, Gan Or, Ziv, Yu, Eric, Dauvilliers, Yves, Zimprich, Alexander, Tomantschger, Volker, Pirker, Walter, Álvarez, Ignacio, Pastor, Pau, Di Fonzo, Alessio, Bhatia, Kailash P., Magrinelli, Francesca, Houlden, Henry, Real, Raquel, Quattrone, Andrea, Limousin, Patricia, Korlipara, Prasad, Foltynie, Thomas, Grosset, Donald, Williams, Nigel, Narendra, Derek, Lin, Hsin-Pin, Jovanovic, Carna, Svetel, Marina, Lynch, Timothy, Gallagher, Amy, Vandenberghe, Wim, Gasser, Thomas, Brockmann, Kathrin, Morris, Huw R., Borsche, Max, Klein, Christine, Corti, Olga, Brice, Alexis, Lesage, Suzanne, and Corvol, Jean Christophe

Published
2024
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5. Estimates of protection levels against SARS-CoV-2 infection and severe COVID-19 in Germany before the 2022/2023 winter season: the IMMUNEBRIDGE project

Author

Lange, Berit, Jaeger, Veronika K., Harries, Manuela, Rücker, Viktoria, Streeck, Hendrik, Blaschke, Sabine, Petersmann, Astrid, Toepfner, Nicole, Nauck, Matthias, Hassenstein, Max J., Dreier, Maren, von Holt, Isabell, Budde, Axel, Bartz, Antonia, Ortmann, Julia, Kurosinski, Marc-André, Berner, Reinhard, Borsche, Max, Brandhorst, Gunnar, Brinkmann, Melanie, Budde, Kathrin, Deckena, Marek, Engels, Geraldine, Fenzlaff, Marc, Härtel, Christoph, Hovardovska, Olga, Katalinic, Alexander, Kehl, Katja, Kohls, Mirjam, Krüger, Stefan, Lieb, Wolfgang, Meyer-Schlinkmann, Kristin M., Pischon, Tobias, Rosenkranz, Daniel, Rübsamen, Nicole, Rupp, Jan, Schäfer, Christian, Schattschneider, Mario, Schlegtendal, Anne, Schlinkert, Simon, Schmidbauer, Lena, Schulze-Wundling, Kai, Störk, Stefan, Tiemann, Carsten, Völzke, Henry, Winter, Theresa, Klein, Christine, Liese, Johannes, Brinkmann, Folke, Ottensmeyer, Patrick F., Reese, Jens-Peter, Heuschmann, Peter, and Karch, André

Published
2024
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10. Protocol of the Luebeck longitudinal investigation of SARS-CoV-2 infection (ELISA) study – a prospective population-based cohort study

Author

Balck, Alexander, Föh, Bandik, Borsche, Max, Rahmöller, Johann, Vollstedt, Eva-Juliane, Waldeck, Frederike, Käding, Nadja, Twesten, Christoph, Mischnik, Alexander, Gillessen-Kaesbach, Gabriele, Ehlers, Marc, Sina, Christian, Taube, Stefan, Busch, Hauke, Rupp, Jan, Katalinic, Alexander, and Klein, Christine

Published
2022
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12. α‐Synuclein Pathology in PRKN‐Linked Parkinson's Disease: New Insights from a Blood‐Based Seed Amplification Assay

Author

Kluge, Annika, primary, Borsche, Max, additional, Streubel‐Gallasch, Linn, additional, Gül, Tuğçe, additional, Schaake, Susen, additional, Balck, Alexander, additional, Prasuhn, Jannik, additional, Campbell, Philip, additional, Morris, Huw R., additional, Schapira, Anthony H., additional, Lohmann, Katja, additional, Brüggemann, Norbert, additional, Rakovic, Aleksandar, additional, Seibler, Philip, additional, Başak, A. Nazlı, additional, Berg, Daniela, additional, and Klein, Christine, additional

Published
2024
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13. RFC1 and FGF14 Repeat Expansions in Serbian Patients with Cerebellar Ataxia

Author

Milovanović, Andona, primary, Dragaševic‐Mišković, Nataša, additional, Thomsen, Mirja, additional, Borsche, Max, additional, Hinrichs, Frauke, additional, Westenberger, Ana, additional, Klein, Christine, additional, Brüggemann, Norbert, additional, Branković, Marija, additional, Marjanović, Ana, additional, Svetel, Marina, additional, Kostić, Vladimir S., additional, and Lohmann, Katja, additional

Published
2024
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14. The role of dopaminergic medication, lipid, and endocannabinoid pathway alterations in idiopathic andPRKN/PINK1-mediated Parkinson’s disease – a large-scale targeted metabolomics study

Author

Balck, Alexander, primary, Borsche, Max, additional, Campbell, Philip, additional, Luo, Xi, additional, Harvey, John, additional, Brückmann, Theresa, additional, Ludwig, Charlotte, additional, Harms, Amy, additional, Lohmann, Katja, additional, Morris, Huw R, additional, Schapira, Anthony H, additional, Hankemeier, Thomas, additional, Fleming, Ronan, additional, Szymczak, Silke, additional, and Klein, Christine, additional

Published
2024
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18. Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort

Author

Vollstedt, Eva-Juliane, Schaake, Susen, Lohmann, Katja, Padmanabhan, Shalini, Brice, Alexis, Lesage, Suzanne, Tesson, Christelle, Vidailhet, Marie, Wurster, Isabel, Hentati, Faycel, Mirelman, Anat, Giladi, Nir, Marder, Karen, Waters, Cheryl, Fahn, Stanley, Kasten, Meike, Brüggemann, Norbert, Borsche, Max, Foroud, Tatiana, Tolosa, Eduardo, Garrido, Alicia, Annesi, Grazia, Gagliardi, Monica, Bozi, Maria, Stefanis, Leonidas, Ferreira, Joaquim J, Correia Guedes, Leonor, Avenali, Micol, Petrucci, Simona, Clark, Lorraine, Fedotova, Ekaterina Y, Abramycheva, Natalya Y, Alvarez, Victoria, Menéndez-González, Manuel, Jesús Maestre, Silvia, Gómez-Garre, Pilar, Mir, Pablo, Belin, Andrea Carmine, Ran, Caroline, Lin, Chin-Hsien, Kuo, Ming-Che, Crosiers, David, Wszolek, Zbigniew K, Ross, Owen A, Jankovic, Joseph, Nishioka, Kenya, Funayama, Manabu, Clarimon, Jordi, Williams-Gray, Caroline H, Camacho, Marta, Cornejo-Olivas, Mario, Torres-Ramirez, Luis, Wu, Yih-Ru, Lee-Chen, Guey-Jen, Morgadinho, Ana, Pulkes, Teeratorn, Termsarasab, Pichet, Berg, Daniela, Kuhlenbäumer, Gregor, Kühn, Andrea A, Borngräber, Friederike, De Michele, Giuseppe, De Rosa, Anna, Zimprich, Alexander, Puschmann, Andreas, Mellick, George D, Dorszewska, Jolanta, Carr, Jonathan, Ferese, Rosangela, Gambardella, Stefano, Chase, Bruce, Markopoulou, Katerina, Satake, Wataru, Toda, Tatsushi, Rossi, Malco, Merello, Marcelo, Lynch, Timothy, Olszewska, Diana A, Lim, Shen-Yang, Ahmad-Annuar, Azlina, Tan, Ai Huey, Al-Mubarak, Bashayer, Hanagasi, Hasmet, Koziorowski, Dariusz, Ertan, Sibel, Genç, Gençer, De Carvalho Aguiar, Patricia, Barkhuizen, Melinda, Pimentel, Marcia MG, Saunders-Pullman, Rachel, Van De Warrenburg, Bart, Bressman, Susan, Toft, Mathias, Appel-Cresswell, Silke, Lang, Anthony E, Skorvanek, Matej, Boon, Agnita JW, Krüger, Rejko, Sammler, Esther M, Tumas, Vitor, Zhang, Bao-Rong, Garraux, Gaetan, Chung, Sun Ju, Kim, Yun Joong, Winkelmann, Juliane, Sue, Carolyn M, Tan, Eng-King, Damásio, Joana, Klivényi, Péter, Kostic, Vladimir S, Arkadir, David, Martikainen, Mika, Borges, Vanderci, Hertz, Jens Michael, Brighina, Laura, Spitz, Mariana, Suchowersky, Oksana, Riess, Olaf, Das, Parimal, Mollenhauer, Brit, Gatto, Emilia M, Petersen, Maria Skaalum, Hattori, Nobutaka, Wu, Ruey-Meei, Illarioshkin, Sergey N, Valente, Enza Maria, Aasly, Jan O, Aasly, Anna, Alcalay, Roy N, Thaler, Avner, Farrer, Matthew J, Brockmann, Kathrin, Corvol, Jean-Christophe, Klein, Christine, MJFF Global Genetic Parkinson's Disease Study Group, Vollstedt, Ej, Schaake, S, Lohmann, K, Padmanabhan, S, Brice, A, Lesage, S, Tesson, C, Vidailhet, M, Wurster, I, Hentati, F, Mirelman, A, Giladi, N, Marder, K, Waters, C, Fahn, S, Kasten, M, Brüggemann, N, Borsche, M, Foroud, T, Tolosa, E, Garrido, A, Annesi, G, Gagliardi, M, Bozi, M, Stefanis, L, Ferreira, Jj, Correia Guedes, L, Avenali, M, Petrucci, S, Clark, L, Fedotova, Ey, Abramycheva, Ny, Alvarez, V, Menéndez-González, M, Jesús Maestre, S, Gómez-Garre, P, Mir, P, Belin, Ac, Ran, C, Lin, Ch, Kuo, Mc, Crosiers, D, Wszolek, Zk, Ross, Oa, Jankovic, J, Nishioka, K, Funayama, M, Clarimon, J, Williams-Gray, Ch, Camacho, M, Cornejo-Olivas, M, Torres-Ramirez, L, Wu, Yr, Lee-Chen, Gj, Morgadinho, A, Pulkes, T, Termsarasab, P, Berg, D, Kuhlenbäumer, G, Kühn, Aa, Borngräber, F, de Michele, G, De Rosa, A, Zimprich, A, Puschmann, A, Mellick, Gd, Dorszewska, J, Carr, J, Ferese, R, Gambardella, S, Chase, B, Markopoulou, K, Satake, W, Toda, T, Rossi, M, Merello, M, Lynch, T, Olszewska, Da, Lim, Sy, Ahmad-Annuar, A, Tan, Ah, Al-Mubarak, B, Hanagasi, H, Koziorowski, D, Ertan, S, Genç, G, de Carvalho Aguiar, P, Barkhuizen, M, Pimentel, Mmg, Saunders-Pullman, R, van de Warrenburg, B, Bressman, S, Toft, M, Appel-Cresswell, S, Lang, Ae, Skorvanek, M, Boon, Ajw, Krüger, R, Sammler, Em, Tu, Repositório da Universidade de Lisboa, Clinical Genetics, Neurology, Internal Medicine, Aasly, Anna, Aasly, Jan O, Abramycheva, Natalya Y, Ahmad-Annuar, Azlina, Albanese, Alberto, Alcalay, Roy N, Aldakheel, Amaal, Alkhairallah, Thamer, Al-Mubarak, Bashayer, Al-Tassan, Nada, Alvarez, Victoria, Amami, Paolo, Annesi, Grazia, Appel-Cresswell, Silke, Leite, Marco Antonio Araujo, Arkadir, David, Avenali, Micol, Ferraz, Henrique Ballalai, Bardien, Soraya, Barkhuizen, Melinda, Barrett, Matthew J, Başak, A Nazlı, Berg, Daniela, Bilgic, Basar, Bloem, Bastiaan R, Bonifati, Vincenzo, Boon, Agnita J W, Borges, Vanderci, Borngräber, Friederike, Borsche, Max, Bozi, Maria, Bressman, Susan, Brice, Alexis, Brighina, Laura, Brockmann, Kathrin, Brüggemann, Norbert, Camacho, Marta, Belin, Andrea Carmine, Carr, Jonathan, Cesarini, Martin Emiliano, Cornejo-Olivas, Mario, Chase, Bruce, Chung, Sun Ju, Guedes, Leonor Correia, Clarimon, Jordi, Clark, Lorraine, Corvol, Jean-Christophe, Crosiers, David, Das, Parimal, de Carvalho Aguiar, Patricia, Damásio, Joana, de Michele, Giuseppe, De Rosa, Anna, Dieguez, Elena, Dorszewska, Jolanta, Ertan, Sibel, Fahn, Stanley, Farrer, Matthew J, Fedotova, Ekaterina Y, Ferese, Rosangela, Ferreira, Joaquim J, Foroud, Tatiana, Funayama, Manabu, Fung, Victor S C, Gagliardi, Monica, Gambardella, Stefano, Garraux, Gaetan, Garrido, Alicia, Gatto, Emilia M, Genç, Gençer, Giladi, Nir, Gómez-Garre, Pilar, Hanagasi, Hasmet, Hattori, Nobutaka, Hentati, Faycel, Hertz, Jens Michael, Illarioshkin, Sergey N, Jankovic, Joseph, Januario, Cristina, Maestre, Silvia Jesús, Kaasinen, Valtteri, Kasten, Meike, Kataoka, Hiroshi, Kievit, Anneke A, Kim, Yun Joong, Klein, Christine, Klivényi, Péter, Kostic, Vladimir S, Koziorowski, Dariusz, Krüger, Rejko, Kühn, Andrea, Kuhlenbäumer, Gregor, Kuo, Ming-Che, Lang, Anthony E, Lee-Chen, Guey-Jen, Lesage, Suzanne, Lim, Jia Lun, Lim, Shen-Yang, Lin, Chin-Hsien, Lohmann, Katja, Lynch, Timothy, Marder, Karen, Markopoulou, Katerina, Martikainen, Mika, May, Patrick, McCarthy, Allan, Mellick, George D, Menéndez-González, Manuel, Merello, Marcelo, Mir, Pablo, Mirelman, Anat, Mollenhauer, Brit, Briceno, Hugo Morales, Morgadinho, Ana, Morris, Huw, Mosejova, Alexandra, Nishioka, Kenya, Çakmak, Özgür Öztop, Olszewska, Diana A, Orr-Urtreger, Avi, Pachchek, Sinthuja, Padmanabhan, Shalini, Periñán, Maria Teresa, Petrucci, Simona, Pimentel, Marcia M G, Procopio, Radha, Pulkes, Teeratorn, Puschmann, Andreas, Ran, Caroline, Riess, Olaf, Ross, Owen A, Rossi, Malco, Ruiz-Martinez, Javier, Sammler, Esther M, Pereira, João Santos, Satake, Wataru, Saunders-Pullman, Rachel, Schaake, Susen, Petersen, Maria Skaalum, Skorvanek, Matej, Stefanis, Leonidas, Soto-Beasley, Alexandra I, Sousa, Mário, Spitz, Mariana, Suchowersky, Oksana, Sue, Carolyn M, Tan, Ai Huey, Tan, Eng-King, Thaler, Avner, Tepgeç, Fatih, Termsarasab, Pichet, Tesson, Christelle, Toda, Tatsushi, Toft, Mathias, Tolosa, Eduardo, Torres-Ramirez, Luis, Tumas, Vitor, Uyguner, Oya, Valente, Enza Maria, van de Warrenburg, Bart, Vidailhet, Marie, Vollstedt, Eva-Juliane, Walton, Ronald L, Waters, Cheryl, Williams-Gray, Caroline H, Winkelmann, Juliane, Wu, Yih-Ru, Wurster, Isabel, Wszolek, Zbigniew K, Wu, Ruey-Meei, Zhang, Bao-Rong, Zimprich, Alexander, Vollstedt, Eva-Juliane [0000-0002-6898-9201], Lohmann, Katja [0000-0002-5121-1460], Mirelman, Anat [0000-0002-1520-2292], Brüggemann, Norbert [0000-0001-5969-6899], Borsche, Max [0000-0002-9651-5986], Tolosa, Eduardo [0000-0002-3781-0854], Ferreira, Joaquim J [0000-0003-3950-5113], Alvarez, Victoria [0000-0002-1916-2523], Mir, Pablo [0000-0003-1656-302X], Kuo, Ming-Che [0000-0003-3688-0225], Ross, Owen A [0000-0003-4813-756X], Nishioka, Kenya [0000-0001-8607-9757], Williams-Gray, Caroline H [0000-0002-2648-9743], Camacho, Marta [0000-0002-1490-5703], Cornejo-Olivas, Mario [0000-0001-6313-5680], Wu, Yih-Ru [0000-0003-1191-2542], Termsarasab, Pichet [0000-0002-3260-3119], Borngräber, Friederike [0000-0001-9650-6820], Zimprich, Alexander [0000-0002-1668-5177], Gambardella, Stefano [0000-0002-3727-4502], Chase, Bruce [0000-0001-5491-7242], Olszewska, Diana A [0000-0002-1814-8834], Tan, Ai Huey [0000-0002-2979-3839], Barkhuizen, Melinda [0000-0002-9952-7085], Appel-Cresswell, Silke [0000-0002-5986-1468], Skorvanek, Matej [0000-0001-5497-8715], Sammler, Esther M [0000-0003-3218-7116], Zhang, Bao-Rong [0000-0002-8099-7407], Chung, Sun Ju [0000-0003-4118-8233], Apollo - University of Cambridge Repository, and MJFF Global Genetic Parkinson's Disease Study Group

Subjects
parkinson's disease, monogenic pd, monogenic PD, Parkinson's disease, Monogenic PD, Parkinson Disease, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], ddc, Neurology, genetics [Parkinson Disease], Mutation, Humans, Human medicine, ddc:610, Neurology (clinical), Research Article, Research Articles
Abstract

© 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited., 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., Michael J. Fox Foundation for Parkinson's Research. Grant Number: ID 15015.02. NIHR Cambridge Biomedical Research Centre. Grant Number: BRC-1215-20014

Published
2023

20. Estimates of protection levels against SARS-CoV-2 infection and severe COVID-19 in Germany before the 2022/2023 winter season: the IMMUNEBRIDGE project

Author

Lange, Berit, primary, Jaeger, Veronika K., additional, Harries, Manuela, additional, Rücker, Viktoria, additional, Streeck, Hendrik, additional, Blaschke, Sabine, additional, Petersmann, Astrid, additional, Toepfner, Nicole, additional, Nauck, Matthias, additional, Hassenstein, Max J., additional, Dreier, Maren, additional, von Holt, Isabell, additional, Budde, Axel, additional, Bartz, Antonia, additional, Ortmann, Julia, additional, Kurosinski, Marc-André, additional, Berner, Reinhard, additional, Borsche, Max, additional, Brandhorst, Gunnar, additional, Brinkmann, Melanie, additional, Budde, Kathrin, additional, Deckena, Marek, additional, Engels, Geraldine, additional, Fenzlaff, Marc, additional, Härtel, Christoph, additional, Hovardovska, Olga, additional, Katalinic, Alexander, additional, Kehl, Katja, additional, Kohls, Mirjam, additional, Krüger, Stefan, additional, Lieb, Wolfgang, additional, Meyer-Schlinkmann, Kristin M., additional, Pischon, Tobias, additional, Rosenkranz, Daniel, additional, Rübsamen, Nicole, additional, Rupp, Jan, additional, Schäfer, Christian, additional, Schattschneider, Mario, additional, Schlegtendal, Anne, additional, Schlinkert, Simon, additional, Schmidbauer, Lena, additional, Schulze-Wundling, Kai, additional, Störk, Stefan, additional, Tiemann, Carsten, additional, Völzke, Henry, additional, Winter, Theresa, additional, Klein, Christine, additional, Liese, Johannes, additional, Brinkmann, Folke, additional, Ottensmeyer, Patrick F., additional, Reese, Jens-Peter, additional, Heuschmann, Peter, additional, and Karch, André, additional

Published
2023
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21. Immune correlates against SARS-CoV-2 infection – results of population and hospital-based studies in the IMMUNEBRIDGE project in Germany, 2022

Author

Manuela, HARRIE S, additional, Lange, Berit, additional, Dreier, Maren, additional, Jäger, Veronika, additional, Karch, André, additional, Rücker, Viktoria, additional, Streeck, Hendrik, additional, Blaschke, Sabine, additional, Pestersmann, Astrid, additional, Toepfner, Nicole, additional, Nauck, Matthias, additional, Vonholt, Isbell, additional, Budde, Axel, additional, Bartz, Antonia, additional, Kurosins, Marc, additional, Berner, Reinhard, additional, Borsche, Max, additional, Brandhorst, Gunnar, additional, Brinkmann, Melanie, additional, Budde, Kathrin, additional, Deckena, Marek, additional, Engels, Geraldine, additional, Flenzlaff, Marc, additional, Härtel, Christoph, additional, Hovardovska, Olga, additional, Katalinic, Alexander, additional, Kehl, Katja, additional, Kohls, Mirjam, additional, Krüger, Stefan, additional, Lieb, Wolfgang, additional, Pischon, Tobias, additional, Rosenkranz, Daniel, additional, Rübsamen, Nicole, additional, Rupp, Jan, additional, Schäfer, Christian, additional, Schattschneider, Mario, additional, Schlegtendal, Anne, additional, Schlinkert, Simone, additional, Schmidbauer, Lena, additional, Schulze-Wundling, Kai, additional, Störk, Stefan, additional, Tiemann, Carsten, additional, Völzke, Henry, additional, Winter, Theresa, additional, Klein, Christine, additional, Liese, Johannes, additional, Brinkmann, Folke, additional, Ottensmeyer, Patrick, additional, Reese, Jens-Peter, additional, and Heuschmann, Peter, additional

Published
2023
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24. POLG2-Linked Mitochondrial Disease: Functional Insights from New Mutation Carriers and Review of the Literature

Author

Borsche, Max, primary, Dulovic-Mahlow, Marija, additional, Baumann, Hauke, additional, Tunc, Sinem, additional, Lüth, Theresa, additional, Schaake, Susen, additional, Özcakir, Selin, additional, Westenberger, Ana, additional, Münchau, Alexander, additional, Knappe, Evelyn, additional, Trinh, Joanne, additional, Brüggemann, Norbert, additional, and Lohmann, Katja, additional

Published
2023
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29. Estimates of protection against SARS-CoV-2 infection and severe COVID-19 in Germany before the 2022/2023 winter season - the IMMUNEBRIDGE project

Author

Lange, Berit, primary, Jaeger, Veronika K, additional, Harries, Manuela, additional, Rücker, Viktoria, additional, Streeck, Hendrik, additional, Blaschke, Sabine, additional, Petersmann, Astrid, additional, Toepfner, Nicole, additional, Nauck, Matthias, additional, Hassenstein, Max J, additional, Dreier, Maren, additional, Von Holt, Isabell, additional, Budde, Axel, additional, Bartz, Antonia, additional, Ortmann, Julia, additional, Kurosinski, Marc-André, additional, Berner, Reinhard, additional, Borsche, Max, additional, Brandhorst, Gunnar, additional, Brinkmann, Melanie, additional, Budde, Kathrin, additional, Deckena, Marek, additional, Engels, Geraldine, additional, Fenzlaff, Marc, additional, Härtel, Christoph, additional, Hovardovska, Olga, additional, Katalinic, Alexander, additional, Kehl, Katja, additional, Kohls, Mirjam, additional, Krüger, Stefan, additional, Lieb, Wolfgang, additional, Meyer-Schlinkmann, Kristin M, additional, Pischon, Tobias, additional, Rosenkranz, Daniel, additional, Rübsamen, Nicole, additional, Rupp, Jan, additional, Schäfer, Christian, additional, Schattschneider, Mario, additional, Schlegtendal, Anne, additional, Schlinkert, Simon, additional, Schmidbauer, Lena, additional, Schulze-Wundling, Kai, additional, Störk, Stefan, additional, Tiemann, Carsten, additional, Völzke, Henry, additional, Winter, Theresa, additional, Klein, Christine, additional, Liese, Johannes, additional, Brinkmann, Folke, additional, Ottensmeyer, Patrick F, additional, Reese, Jens-Peter, additional, Heuschmann, Peter, additional, and Karch, André, additional

Published
2023
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31. Mitochondrial DNA heteroplasmy distinguishes disease manifestation in PINK1/PRKN-linked Parkinson's disease.

Author

Trinh, Joanne, Hicks, Andrew A, König, Inke R, Delcambre, Sylvie, Lüth, Theresa, Schaake, Susen, Wasner, Kobi, Ghelfi, Jenny, Borsche, Max, Vilariño-Güell, Carles, Hentati, Faycel, Germer, Elisabeth L, Bauer, Peter, Takanashi, Masashi, Kostić, Vladimir, Lang, Anthony E, Brüggemann, Norbert, Pramstaller, Peter P, Pichler, Irene, and Rajput, Alex

Subjects
MITOCHONDRIAL DNA, PARKINSON'S disease, GENE expression, MELAS syndrome, LEBER'S hereditary optic atrophy
Abstract

Biallelic mutations in PINK1 / PRKN cause recessive Parkinson's disease. Given the established role of PINK1/Parkin in regulating mitochondrial dynamics, we explored mitochondrial DNA integrity and inflammation as disease modifiers in carriers of mutations in these genes. Mitochondrial DNA integrity was investigated in a large collection of biallelic (n = 84) and monoallelic (n = 170) carriers of PINK1 / PRKN mutations, idiopathic Parkinson's disease patients (n = 67) and controls (n = 90). In addition, we studied global gene expression and serum cytokine levels in a subset. Affected and unaffected PINK1 / PRKN monoallelic mutation carriers can be distinguished by heteroplasmic mitochondrial DNA variant load (area under the curve = 0.83, CI 0.74–0.93). Biallelic PINK1 / PRKN mutation carriers harbour more heteroplasmic mitochondrial DNA variants in blood (P = 0.0006, Z = 3.63) compared to monoallelic mutation carriers. This enrichment was confirmed in induced pluripotent stem cell-derived (controls, n = 3; biallelic PRKN mutation carriers, n = 4) and post-mortem (control, n = 1; biallelic PRKN mutation carrier, n = 1) midbrain neurons. Last, the heteroplasmic mitochondrial DNA variant load correlated with IL6 levels in PINK1 / PRKN mutation carriers (r = 0.57, P = 0.0074). PINK1 / PRKN mutations predispose individuals to mitochondrial DNA variant accumulation in a dose- and disease-dependent manner. [ABSTRACT FROM AUTHOR]

Published
2023
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32. Mitochondrial DNA heteroplasmy distinguishes disease manifestation in PINK1/PRKN-linked Parkinson’s disease

Author

Trinh, Joanne, primary, Hicks, Andrew A, additional, König, Inke R, additional, Delcambre, Sylvie, additional, Lüth, Theresa, additional, Schaake, Susen, additional, Wasner, Kobi, additional, Ghelfi, Jenny, additional, Borsche, Max, additional, Vilariño-Güell, Carles, additional, Hentati, Faycel, additional, Germer, Elisabeth L, additional, Bauer, Peter, additional, Takanashi, Masashi, additional, Kostić, Vladimir, additional, Lang, Anthony E, additional, Brüggemann, Norbert, additional, Pramstaller, Peter P, additional, Pichler, Irene, additional, Rajput, Alex, additional, Hattori, Nobutaka, additional, Farrer, Matthew J, additional, Lohmann, Katja, additional, Weissensteiner, Hansi, additional, May, Patrick, additional, Klein, Christine, additional, and Grünewald, Anne, additional

Published
2022
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33. Mitochondrial DNA heteroplasmy distinguishes disease manifestation in PINK1- and PRKN-linked Parkinson's disease 2022.05.17.22275087

Author

Trinh, Joanne, Hicks, Andrew A., Koenig, Inke R., Delcambre, Sylvie, Lueth, Theresa, Schaake, Susen, Wasner, Kobi, Ghelfi, Jenny, Borsche, Max, Vilarino-Guell, Carles, Hentati, Faycel, Germer, Elisabeth L., Bauer, Peter, Takanashi, Masashi, Kostic, Vladimir, Lang, Anthony E., Brueggeman, Norbert, Pramstaller, Peter P., Pichler, Irene, Rajput, Alex, Hattori, Nobutaka, Farrer, Matthew J., Lohmann, Katja, May, Patrick, Weissensteiner, Hansi, Klein, Christine, Grünewald, Anne, FNR [sponsor], Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], and Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (A. Grünewald Group) [research center]

Subjects
Neurologie [D14] [Sciences de la santé humaine], Parkinson's disease, PINK1, Neurology [D14] [Human health sciences], MtDNA, heteroplasmy, PRKN, Genetics & genetic processes [F10] [Life sciences], Génétique & processus génétiques [F10] [Sciences du vivant]
Abstract

Biallelic mutations in PINK1 and PRKN cause recessively inherited Parkinson's disease (PD). Though some studies suggest that PINK1/PRKN monoallelic mutations may not contribute to risk, deep phenotyping assessment showed that PINK1 or PRKN monoallelic pathogenic variants were at a significantly higher rate in PD compared to controls. Given the established role of PINK1 and Parkin in regulating mitochondrial dynamics, we explored mitochondrial DNA (mtDNA) integrity and inflammation as potential disease modifiers in carriers of mutations in these genes. MtDNA integrity, global gene expression and serum cytokine levels were investigated in a large collection of biallelic (n=84) and monoallelic (n=170) carriers of PINK1/PRKN mutations, iPD patients (n=67) and controls (n=90). Affected and unaffected PINK1/PRKN monoallelic mutation carriers can be distinguished by heteroplasmic mtDNA variant load (AUC=0.83, CI:0.74-0.93). Biallelic PINK1/PRKN mutation carriers harbor more heteroplasmic mtDNA variants in blood (p=0.0006, Z=3.63) compared to monoallelic mutation carriers. This enrichment was confirmed in iPSC-derived and postmortem midbrain neurons from biallelic PRKN-PD patients. Lastly, the heteroplasmic mtDNA variant load was found to correlate with IL6 levels in PINK1/PRKN mutation carriers (r=0.57, p=0.0074). PINK1/PRKN mutations predispose individuals to mtDNA variant accumulation in a dose- and disease-dependent manner. MtDNA variant load over time is a potential marker of disease manifestation in PINK1/PRKN mutation carriers.Competing Interest StatementThe authors have declared no competing interest.Funding StatementThe authors wish to thank the many patients and their families who volunteered, and the efforts of the many clinical teams involved. Funding has been obtained from the German Research Foundation (ProtectMove; FOR 2488, GR 3731/5-1; SE 2608/2-1; KO 2250/7-1), the Luxembourg National Research Fund in the ATTRACT (Model-IPD, FNR9631103), NCER-PD (FNR11264123) and INTER programmes (ProtectMove, FNR11250962; MiRisk-PD, C17/BM/11676395, NB 4328/2-1), the BMBF (MitoPD), the Hermann and Lilly Schilling Foundation, the European Community (SysMedPD), the Canadian Institutes of Health Research (CIHR), Peter and Traudl Engelhorn Foundation. Initial studies in Tunisia on familial parkinsonism were in collaboration with Lefkos Middleton, Rachel Gibson, and the GlaxoSmithKline PD Programme Team (2002-2005). We would like to thank Dr Helen Tuppen from the Welcome Trust Centre for Mitochondrial Research, Newcastle University, UK for providing us with the plasmid p7D1. Moreover, this project was supported by the high throughput/high content screening platform and HPC facility at the Luxembourg Centre for Systems Biomedicine, and the University of Luxembourg.Author DeclarationsI confirm all relevant ethical guidelines have been followed, and any necessary IRB and/or ethics committee approvals have been obtained.YesThe details of the IRB/oversight body that provided approval or exemption for the research described are given below:University of Lubeck Ethics CommitteeI confirm that all necessary patient/participant consent has been obtained and the appropriate institutional forms have been archived, and that any patient/participant/sample identifiers included were not known to anyone (e.g., hospital staff, patients or participants themselves) outside the research group so cannot be used to identify individuals.YesI understand that all clinical trials and any other prospective interventional studies must be registered with an ICMJE-approved registry, such as ClinicalTrials.gov. I confirm that any such study reported in the manuscript has been registered and the trial registration ID is provided (note: if posting a prospective study registered retrospectively, please provide a statement in the trial ID field explaining why the study was not registered in advance).Yes I have followed all appropriate research reporting guidelines and uploaded the relevant EQUATOR Network research reporting checklist(s) and other pertinent material as supplementary files, if applicable.YesAll data produced in the present study are available upon reasonable request to the authors

Published
2022

34. Mitochondrial DNA heteroplasmy distinguishes disease manifestation in PINK1- and PRKN-linked Parkinson’s disease

Author

Trinh, Joanne, primary, Hicks, Andrew A., additional, König, Inke R., additional, Delcambre, Sylvie, additional, Lüth, Theresa, additional, Schaake, Susen, additional, Wasner, Kobi, additional, Ghelfi, Jenny, additional, Borsche, Max, additional, Vilariño-Güell, Carles, additional, Hentati, Faycel, additional, Germer, Elisabeth L., additional, Bauer, Peter, additional, Takanashi, Masashi, additional, Kostić, Vladimir, additional, Lang, Anthony E., additional, Brüggemann, Norbert, additional, Pramstaller, Peter P., additional, Pichler, Irene, additional, Rajput, Alex, additional, Hattori, Nobutaka, additional, Farrer, Matthew J., additional, Lohmann, Katja, additional, Weissensteiner, Hansi, additional, May, Patrick, additional, Klein, Christine, additional, and Grünewald, Anne, additional

Published
2022
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36. One-year surveillance of SARS-CoV-2 transmission of the ELISA cohort: A model for population-based monitoring of infection risk

Author

Klein, Christine, primary, Borsche, Max, additional, Balck, Alexander, additional, Föh, Bandik, additional, Rahmöller, Johann, additional, Peters, Elke, additional, Knickmann, Jan, additional, Lane, Miranda, additional, Vollstedt, Eva-Juliane, additional, Elsner, Susanne A., additional, Käding, Nadja, additional, Hauswaldt, Susanne, additional, Lange, Tanja, additional, Hundt, Jennifer E., additional, Lehrian, Selina, additional, Giese, Julia, additional, Mischnik, Alexander, additional, Niemann, Stefan, additional, Maurer, Florian, additional, Homolka, Susanne, additional, Paulowski, Laura, additional, Kramer, Jan, additional, Twesten, Christoph, additional, Sina, Christian, additional, Gillessen-Kaesbach, Gabriele, additional, Busch, Hauke, additional, Ehlers, Marc, additional, Taube, Stefan, additional, Rupp, Jan, additional, and Katalinic, Alexander, additional

Published
2022
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37. Additional file 1 of Protocol of the Luebeck longitudinal investigation of SARS-CoV-2 infection (ELISA) study – a prospective population-based cohort study

Author

Balck, Alexander, Föh, Bandik, Borsche, Max, Rahmöller, Johann, Vollstedt, Eva-Juliane, Waldeck, Frederike, Käding, Nadja, Twesten, Christoph, Mischnik, Alexander, Gillessen-Kaesbach, Gabriele, Ehlers, Marc, Sina, Christian, Taube, Stefan, Busch, Hauke, Rupp, Jan, Katalinic, Alexander, and Klein, Christine

Subjects
Data_FILES
Abstract

Additional file 1.

Published
2022
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39. Eosinophils Suppress the Migration of T Cells Into the Brain of Plasmodium berghei-Infected Ifnar1-/- Mice and Protect Them From Experimental Cerebral Malaria

Author

Scheunemann, Johanna F., primary, Reichwald, Julia J., additional, Korir, Patricia Jebett, additional, Kuehlwein, Janina M., additional, Jenster, Lea-Marie, additional, Hammerschmidt-Kamper, Christiane, additional, Lewis, Matthew D., additional, Klocke, Katrin, additional, Borsche, Max, additional, Schwendt, Kim E., additional, Soun, Camille, additional, Thiebes, Stephanie, additional, Limmer, Andreas, additional, Engel, Daniel R., additional, Mueller, Ann-Kristin, additional, Hoerauf, Achim, additional, Hübner, Marc P., additional, and Schumak, Beatrix, additional

Published
2021
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41. Frequency of Heterozygous Parkin (PRKN) Variants and Penetrance of Parkinson's Disease Risk Markers in the Population-Based CHRIS Cohort

Author

Castelo Rueda, Maria Paulina, primary, Raftopoulou, Athina, additional, Gögele, Martin, additional, Borsche, Max, additional, Emmert, David, additional, Fuchsberger, Christian, additional, Hantikainen, Essi M., additional, Vukovic, Vladimir, additional, Klein, Christine, additional, Pramstaller, Peter P., additional, Pichler, Irene, additional, and Hicks, Andrew A., additional

Published
2021
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42. Predictive modeling of spread in adult‐onset isolated dystonia: Key properties and effect of tremor inclusion

Author

Wang, Meng, primary, Sajobi, Tolulope, additional, Morgante, Francesca, additional, Adler, Charles, additional, Agarwal, Pinky, additional, Bäumer, Tobias, additional, Berardelli, Alfredo, additional, Berman, Brian D., additional, Blumin, Joel, additional, Borsche, Max, additional, Brashear, Allison, additional, Deik, Andres, additional, Duque, Kevin, additional, Espay, Alberto J., additional, Ferrazzano, Gina, additional, Feuerstein, Jeanne, additional, Fox, Susan, additional, Frank, Samuel, additional, Hallett, Mark, additional, Jankovic, Joseph, additional, LeDoux, Mark S., additional, Leegwater‐Kim, Julie, additional, Mahajan, Abhimanyu, additional, Malaty, Irene A., additional, Ondo, William, additional, Pantelyat, Alexander, additional, Pirio‐Richardson, Sarah, additional, Roze, Emmanuel, additional, Saunders‐Pullman, Rachel, additional, Suchowersky, Oksana, additional, Truong, Daniel, additional, Vidailhet, Marie, additional, Shukla, Aparna Wagle, additional, Perlmutter, Joel S., additional, Jinnah, Hyder A., additional, and Martino, Davide, additional

Published
2021
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43. A Multi‐center Genome‐wide Association Study of Cervical Dystonia

Author

Sun, Yan V., primary, Li, Chengchen, additional, Hui, Qin, additional, Huang, Yunfeng, additional, Barbano, Richard, additional, Rodriguez, Ramon, additional, Malaty, Irene A., additional, Reich, Stephen, additional, Bambarger, Kimberly, additional, Holmes, Katie, additional, Jankovic, Joseph, additional, Patel, Neepa J., additional, Roze, Emmanuel, additional, Vidailhet, Marie, additional, Berman, Brian D., additional, LeDoux, Mark S., additional, Espay, Alberto J., additional, Agarwal, Pinky, additional, Pirio‐Richardson, Sarah, additional, Frank, Samuel A., additional, Ondo, William G., additional, Saunders‐Pullman, Rachel, additional, Chouinard, Sylvain, additional, Natividad, Stover, additional, Berardelli, Alfredo, additional, Pantelyat, Alexander Y., additional, Brashear, Allison, additional, Fox, Susan H., additional, Kasten, Meike, additional, Krämer, Ulrike M., additional, Neis, Miriam, additional, Bäumer, Tobias, additional, Loens, Sebastian, additional, Borsche, Max, additional, Zittel, Simone, additional, Maurer, Antonia, additional, Gelderblom, Mathias, additional, Volkmann, Jens, additional, Odorfer, Thorsten, additional, Kühn, Andrea A., additional, Borngräber, Friederike, additional, König, Inke R., additional, Cruchaga, Carlos, additional, Cotton, Adam C., additional, Kilic‐Berkmen, Gamze, additional, Freeman, Alan, additional, Factor, Stewart A., additional, Scorr, Laura, additional, Bremner, J. Douglas, additional, Vaccarino, Viola, additional, Quyyumi, Arshed A., additional, Klein, Christine, additional, Perlmutter, Joel S., additional, Lohmann, Katja, additional, and Jinnah, Hyder A., additional

Published
2021
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45. Cohort-based surveillance of SARS-CoV2 transmission mirrors infection rates at the population level: a one-year longitudinal study

Author

Klein, Christine, primary, Borsche, Max, additional, Balck, Alexander, additional, Föh, Bandik, additional, Rahmöller, Johann, additional, Peters, Elke, additional, Knickmann, Jan, additional, Lane, Miranda, additional, Vollstedt, Eva-Juliane, additional, Elsner, Susanne A., additional, Käding, Nadja, additional, Hauswaldt, Susanne, additional, Lange, Tanja, additional, Hundt, Jennifer E., additional, Lehrian, Selina, additional, Giese, Julia, additional, Mischnik, Alexander, additional, Niemann, Stefan, additional, Maurer, Florian, additional, Homolka, Susanne, additional, Paulowski, Laura, additional, Kramer, Jan, additional, Twesten, Christoph, additional, Sina, Christian, additional, Gillessen-Kaesbach, Gabriele, additional, Busch, Hauke, additional, Ehlers, Marc, additional, Taube, Stefan, additional, Rupp, Jan, additional, and Katalinic, Alexander, additional

Published
2021
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48. Metabolic markers distinguish COVID-19 from other intensive care patients and show potential to stratify for disease risk

Author

Schmelter, Franziska, primary, Foeh, Bandik, additional, Mallagaray, Alvaro, additional, Rahmoeller, Johann, additional, Ehlers, Marc, additional, Lehrian, Selina, additional, Kopylow, Vera von, additional, Künsting, Inga, additional, Lixenfeld, Anne Sophie, additional, Martin, Emily, additional, Ragab, Mohab, additional, Borsche, Max, additional, Balck, Alexander, additional, Vollstedt, Eva Juliane, additional, Meyer-Saraei, Roza, additional, Kreutzmann, Fabian, additional, Eitel, Ingo, additional, Taube, Stefan, additional, Klein, Christine, additional, Katalinic, Alexander, additional, Rupp, Jan, additional, Jantzen, Eckard, additional, Graf, Tobias, additional, Sina, Christian, additional, and Günther, Ulrich L, additional

Published
2021
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49. Spreading of SARS-CoV-2 Among Adult Asylum Seekers in Refugee Shelters in Germany

Author

Alvarez-Fischer, Daniel, primary, Borsche, Max, additional, Balck, Alexander, additional, Föh, Bandik, additional, Hoischen, Arnim, additional, Elsner, Susanne A., additional, Peters, Elke, additional, Rieck, Andrea, additional, Martin, Emily L., additional, Künsting, Inga, additional, Ehlers, Marc, additional, Mischnik, Alexander, additional, Taube, Stefan, additional, Rupp, Jan, additional, Katalinic, Alexander, additional, and Klein, Christine, additional

Published
2021
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50. Parkin Deficiency Appears Not to Be Associated with Cardiac Damage in Parkinson's Disease

Author

Trilck‐Winkler, Michaela, primary, Borsche, Max, additional, König, Inke R., additional, Balck, Alexander, additional, Lenz, Insa, additional, Kasten, Meike, additional, Lohmann, Katja, additional, Brockmann, Kathrin, additional, Valente, Enza Maria, additional, Klein, Christine, additional, Brüggemann, Norbert, additional, and Seibler, Philip, additional

Published
2021
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