12 results on '"Borsche, Max"'
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2. RFC1 and FGF14 Repeat Expansions in Serbian Patients with Cerebellar Ataxia
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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
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- 2024
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3. Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort
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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
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- 2023
4. Blood‐Based α‐Synuclein Seeding—A New Era for Identifying Parkinsonian Syndromes
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Borsche, Max, primary and Berg, Daniela, additional
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- 2023
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5. The New p. F1700L LRRK2 Variant Causes Parkinson's Disease by Extensively Increasing Kinase Activity
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Borsche, Max, primary, Pratuseviciute, Neringa, additional, Schaake, Susen, additional, Hinrichs, Frauke, additional, Morel, Gabriel, additional, Uter, Jan, additional, Lohmann, Katja, additional, Klein, Christine, additional, Alessi, Dario R., additional, Hagenah, Johann, additional, and Sammler, Esther, additional
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- 2023
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6. In Vivo Investigation of Glucose Metabolism in Idiopathic and PRKN ‐Related Parkinson's Disease
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Borsche, Max, primary, Märtens, Andre, additional, Hörmann, Philipp, additional, Brückmann, Theresa, additional, Lohmann, Katja, additional, Tunc, Sinem, additional, Klein, Christine, additional, Hiller, Karsten, additional, and Balck, Alexander, additional
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- 2023
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7. Head impulse testing in bilateral vestibulopathy in patients with genetically defined CANVAS
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Borsche, Max, primary, Tadic, Vera, additional, König, Inke R., additional, Lohmann, Katja, additional, Helmchen, Christoph, additional, and Brüggemann, Norbert, additional
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- 2022
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8. Predictive modeling of spread in adult‐onset isolated dystonia: Key properties and effect of tremor inclusion
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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
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- 2021
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9. A Multi‐center Genome‐wide Association Study of Cervical Dystonia
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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
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- 2021
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10. Parkin Deficiency Appears Not to Be Associated with Cardiac Damage in Parkinson's Disease
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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
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- 2021
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11. Protection of Batf3 ‐deficient mice from experimental cerebral malaria correlates with impaired cytotoxic T‐cell responses and immune regulation
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Kuehlwein, Janina M., primary, Borsche, Max, additional, Korir, Patricia J., additional, Risch, Frederic, additional, Mueller, Ann‐Kristin, additional, Hübner, Marc P., additional, Hildner, Kai, additional, Hoerauf, Achim, additional, Dunay, Ildiko Rita, additional, and Schumak, Beatrix, additional
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- 2019
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12. Discordance in monozygotic Parkinson's disease twins – continuum or dichotomy?
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Balck, Alexander, primary, Borsche, Max, additional, Kasten, Meike, additional, Lohmann, Katja, additional, Seibler, Philip, additional, Brüggemann, Norbert, additional, and Klein, Christine, additional
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- 2019
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