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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Autores principales: 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
Formato: Artículo
Lenguaje:inglés
Publicado: 2023
Materias:
Parkinson's disease
Cohort
Disease
Medicine
Neuroscience
Genetics
Psychology
Biology
Internal medicine
Humans
Mutation
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
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