Embracing Monogenic Parkinson's Disease

Vollstedt, Eva Juliane|||0000-0002-6898-9201; Schaake, Susen; Lohmann, Katja|||0000-0002-5121-1460; Padmanabhan, Shalini; Brice, Alexis|||0000-0002-0941-3990; Lesage, Suzanne; Tesson, Christelle; Vidailhet, Marie; Wurster, Isabel; Hentati, Faycel; Mirelman, Anat|||0000-0002-1520-2292; Giladi, Nir; Marder, Karen S.; Waters, Cheryl H.; Fahn, Stanley; Kasten, Meike; Brüggemann, Norbert|||0000-0001-5969-6899; Borsche, Max|||0000-0002-9651-5986; Foroud, Tatiana; Tolosa, Eduardo; Garrido, Alicia|||0000-0003-0652-6348; Annesi, Grazia; Gagliardi, Monica; Bozi, Maria; Stefanis, Leonidas; Ferreira, Joaquim J.|||0000-0003-3950-5113; Correia Guedes, Leonor; Avenali, Micol; Petrucci, Simona; Clark, Lorraine; Fedotova, Ekaterina Y.; Abramycheva, Natalya Y.; Alvarez, Victoria|||0000-0002-1916-2523; Mendez-Gonzalez, Manuel|||0000-0002-5218-0774; Jesús Maestre, Silvia|||0000-0002-1874-4628; Gómez-Garre, Pilar|||0000-0002-0437-6182; Mir, Pablo|||0000-0003-1656-302X; Belin, Andrea Carmine; Ran, Caroline; Lin, Chin-Hsien; Kuo, Ming-Che|||0000-0003-3688-0225; Crosiers, David; Wszolek, Zbigniew K.|||0000-0001-5487-1053; Ross, Owen A.|||0000-0003-4813-756X; Jankovic, Joseph; Nishioka, Kenya|||0000-0001-8607-9757; Funayama, Manabu; Clarimón, Jordi|||0000-0002-6824-6942; Williams-Gray, Caroline|||0000-0002-2648-9743; Camacho, Marta|||0000-0002-1490-5703; Cornejo-Olivas, M.|||0000-0001-6313-5680; Torres-Ramirez, Luis; Chang Gung Memorial Hospital. Linkou Medical Center (Taoyuan, Taiwan)|||0000-0003-1191-2542; Lee-Chen, Guey-Jen; Morgadinho, Ana; Pulkes, Teeratorn; Termsarasab, Pichet|||0000-0002-3260-3119; Berg, Daniela; Kuhlenbäumer, Gregor; Kühn, Andrea A.|||0000-0002-4134-9060; Borngräber, Friederike|||0000-0001-9650-6820; de Michele, Giuseppe; De Rosa, Anna; Zimprich, Alexander|||0000-0002-1668-5177; Puschmann, Andreas; Mellick, George D.; Dorszewska, Jolanta; Carr, Jonathan; Ferese, Rosangela; Gambardella, Stefano|||0000-0002-3727-4502; Chase, Bruce|||0000-0001-5491-7242; Markopoulou, Katerina; Satake, Wataru; Rossi, Malco|||0000-0003-3383-8566; Merello, Marcelo; Lynch, Timothy; Olszewska, Diana Angelika|||0000-0002-1814-8834; Lim, Shen-Yang; Ahmad-Annuar, Azlina; Tan, Ai Huey|||0000-0002-2979-3839; Al-Mubarak, Bashayer; Hanagasi, Hasmet; Koziorowski, Dariusz; Ertan, Sibel; Genç, Gençer; de Carvalho Aguiar, Patricia; Barkhuizen, Melinda|||0000-0002-9952-7085; Pimentel, Marcia M. G.; Saunders-Pullman, Rachel; van de Warrenburg, Bart; Bressman, Susan; Toft, Mathias|||0000-0002-6723-6865; Appel-Cresswell, Silke|||0000-0002-5986-1468; Lang, Anthony E.; Skorvanek, Matej; Boon, Agnita J. W.; Krüger, Rejko|||0000-0003-4258-6241; Sammler, Esther|||0000-0003-3218-7116; Tumas, Vitor; Zhang, Baorong|||0000-0002-8099-7407; Garraux, Gaetan; Chung, Sun Ju|||0000-0003-4118-8233; Kim, Yun Joong; Winkelmann, Juliane; Sue, Carolyn M.; Tan, Eng-King|||0000-0003-2977-9743; 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|||0000-0001-8437-3645; Petersen, Maria Skaalum|||0000-0001-9404-8440; Valente, Enza Maria|||0000-0002-0600-6820; Farrer, Matthew|||0000-0003-1159-5321; Aasly, Anna; Aasly, Jan O.; Albanese, Alberto; Alcalay, Roy N.; Aldakheel, Amaal; Alkhairallah, Thamer; Al-tassan, Nada; Amami, Paolo; Leite, Marco Antonio Araujo; Ballalai Ferraz, Henrique; Bardien, Soraya; Barrett, Matthew J.; Başak, A. Nazli; Bilgic, Basar; Bloem, Bastiaan R.; Bonifati, Vincenzo; Brockmann, Kathrin|||0000-0002-7515-8596; Cesarini, Martin Emiliano; Corvol, Jean Christophe; Dieguez, Elena; Fung, Victor S.C.|||0000-0003-3085-2282; Gatto, Emilia Mabel; Hattori, Nobutaka; Illarioshkin, Sergey|||0000-0002-2704-6282; Januario, Cristina|||0000-0002-6978-876X; Kaasinen, Valtteri; Kataoka, Hiroshi; Kievit, Anneke A.; Klein, Christine|||0000-0003-2102-3431; Lim, Jia Lun; May, Patrick; McCarthy, Allan; Morales Briceno, Hugo; Morris, Huw|||0000-0002-5473-3774; Mosejova, Alexandra; Çakmak, Özgür Öztop; Orr-Urtreger, Avi; Pachchek, Sinthuja; Procopio, Radha; Ruiz-Martinez, Javier; Santos Pereira, João|||0000-0002-3242-8461; Soto-Beasley, Alexandra I.; Sousa, Mário|||0000-0002-2570-6435; Thaler, Avner; Tepgeç, Fatih; Toda, Tatsushi; Uyguner, Zehra Oya; Walton, Ronald L.; Wu, Yih-Ru; Wu, Ruey-Meei|||0000-0002-4947-5467

Embracing Monogenic Parkinson's Disease

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 represente...

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Authors:	Vollstedt, Eva Juliane\|\|\|0000-0002-6898-9201, Schaake, Susen, Lohmann, Katja\|\|\|0000-0002-5121-1460, Padmanabhan, Shalini, Brice, Alexis\|\|\|0000-0002-0941-3990, Lesage, Suzanne, Tesson, Christelle, Vidailhet, Marie, Wurster, Isabel, Hentati, Faycel, Mirelman, Anat\|\|\|0000-0002-1520-2292, Giladi, Nir, Marder, Karen S., Waters, Cheryl H., Fahn, Stanley, Kasten, Meike, Brüggemann, Norbert\|\|\|0000-0001-5969-6899, Borsche, Max\|\|\|0000-0002-9651-5986, Foroud, Tatiana, Tolosa, Eduardo, Garrido, Alicia\|\|\|0000-0003-0652-6348, Annesi, Grazia, Gagliardi, Monica, Bozi, Maria, Stefanis, Leonidas, Ferreira, Joaquim J.\|\|\|0000-0003-3950-5113, Correia Guedes, Leonor, Avenali, Micol, Petrucci, Simona, Clark, Lorraine, Fedotova, Ekaterina Y., Abramycheva, Natalya Y., Alvarez, Victoria\|\|\|0000-0002-1916-2523, Mendez-Gonzalez, Manuel\|\|\|0000-0002-5218-0774, Jesús Maestre, Silvia\|\|\|0000-0002-1874-4628, Gómez-Garre, Pilar\|\|\|0000-0002-0437-6182, Mir, Pablo\|\|\|0000-0003-1656-302X, Belin, Andrea Carmine, Ran, Caroline, Lin, Chin-Hsien, Kuo, Ming-Che\|\|\|0000-0003-3688-0225, Crosiers, David, Wszolek, Zbigniew K.\|\|\|0000-0001-5487-1053, Ross, Owen A.\|\|\|0000-0003-4813-756X, Jankovic, Joseph, Nishioka, Kenya\|\|\|0000-0001-8607-9757, Funayama, Manabu, Clarimón, Jordi\|\|\|0000-0002-6824-6942, Williams-Gray, Caroline\|\|\|0000-0002-2648-9743, Camacho, Marta\|\|\|0000-0002-1490-5703, Cornejo-Olivas, M.\|\|\|0000-0001-6313-5680, Torres-Ramirez, Luis, Chang Gung Memorial Hospital. Linkou Medical Center (Taoyuan, Taiwan)\|\|\|0000-0003-1191-2542, Lee-Chen, Guey-Jen, Morgadinho, Ana, Pulkes, Teeratorn, Termsarasab, Pichet\|\|\|0000-0002-3260-3119, Berg, Daniela, Kuhlenbäumer, Gregor, Kühn, Andrea A.\|\|\|0000-0002-4134-9060, Borngräber, Friederike\|\|\|0000-0001-9650-6820, de Michele, Giuseppe, De Rosa, Anna, Zimprich, Alexander\|\|\|0000-0002-1668-5177, Puschmann, Andreas, Mellick, George D., Dorszewska, Jolanta, Carr, Jonathan, Ferese, Rosangela, Gambardella, Stefano\|\|\|0000-0002-3727-4502, Chase, Bruce\|\|\|0000-0001-5491-7242, Markopoulou, Katerina, Satake, Wataru, Rossi, Malco\|\|\|0000-0003-3383-8566, Merello, Marcelo, Lynch, Timothy, Olszewska, Diana Angelika\|\|\|0000-0002-1814-8834, Lim, Shen-Yang, Ahmad-Annuar, Azlina, Tan, Ai Huey\|\|\|0000-0002-2979-3839, Al-Mubarak, Bashayer, Hanagasi, Hasmet, Koziorowski, Dariusz, Ertan, Sibel, Genç, Gençer, de Carvalho Aguiar, Patricia, Barkhuizen, Melinda\|\|\|0000-0002-9952-7085, Pimentel, Marcia M. G., Saunders-Pullman, Rachel, van de Warrenburg, Bart, Bressman, Susan, Toft, Mathias\|\|\|0000-0002-6723-6865, Appel-Cresswell, Silke\|\|\|0000-0002-5986-1468, Lang, Anthony E., Skorvanek, Matej, Boon, Agnita J. W., Krüger, Rejko\|\|\|0000-0003-4258-6241, Sammler, Esther\|\|\|0000-0003-3218-7116, Tumas, Vitor, Zhang, Baorong\|\|\|0000-0002-8099-7407, Garraux, Gaetan, Chung, Sun Ju\|\|\|0000-0003-4118-8233, Kim, Yun Joong, Winkelmann, Juliane, Sue, Carolyn M., Tan, Eng-King\|\|\|0000-0003-2977-9743, 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\|\|\|0000-0001-8437-3645, Petersen, Maria Skaalum\|\|\|0000-0001-9404-8440, Valente, Enza Maria\|\|\|0000-0002-0600-6820, Farrer, Matthew\|\|\|0000-0003-1159-5321, Aasly, Anna, Aasly, Jan O., Albanese, Alberto, Alcalay, Roy N., Aldakheel, Amaal, Alkhairallah, Thamer, Al-tassan, Nada, Amami, Paolo, Leite, Marco Antonio Araujo, Ballalai Ferraz, Henrique, Bardien, Soraya, Barrett, Matthew J., Başak, A. Nazli, Bilgic, Basar, Bloem, Bastiaan R., Bonifati, Vincenzo, Brockmann, Kathrin\|\|\|0000-0002-7515-8596, Cesarini, Martin Emiliano, Corvol, Jean Christophe, Dieguez, Elena, Fung, Victor S.C.\|\|\|0000-0003-3085-2282, Gatto, Emilia Mabel, Hattori, Nobutaka, Illarioshkin, Sergey\|\|\|0000-0002-2704-6282, Januario, Cristina\|\|\|0000-0002-6978-876X, Kaasinen, Valtteri, Kataoka, Hiroshi, Kievit, Anneke A., Klein, Christine\|\|\|0000-0003-2102-3431, Lim, Jia Lun, May, Patrick, McCarthy, Allan, Morales Briceno, Hugo, Morris, Huw\|\|\|0000-0002-5473-3774, Mosejova, Alexandra, Çakmak, Özgür Öztop, Orr-Urtreger, Avi, Pachchek, Sinthuja, Procopio, Radha, Ruiz-Martinez, Javier, Santos Pereira, João\|\|\|0000-0002-3242-8461, Soto-Beasley, Alexandra I., Sousa, Mário\|\|\|0000-0002-2570-6435, Thaler, Avner, Tepgeç, Fatih, Toda, Tatsushi, Uyguner, Zehra Oya, Walton, Ronald L., Wu, Yih-Ru, Wu, Ruey-Meei\|\|\|0000-0002-4947-5467
Format:	article
Publication Date:	2023
Country:	España
Institution:	Universitat Autònoma de Barcelona
Repository:	Dipòsit Digital de Documents de la UAB
Language:	English
OAI Identifier:	oai:ddd.uab.cat:303445
Online Access:	https://ddd.uab.cat/record/303445 https://dx.doi.org/urn:doi:10.1002/mds.29288
Access Level:	Open access
Keyword:	Parkinson's disease Monogenic PD

id	ES_71de31c4c54a07d455b72eeff6465521
oai_identifier_str	oai:ddd.uab.cat:303445
network_acronym_str	ES
network_name_str	España
repository_id_str
dc.title.none.fl_str_mv	Embracing Monogenic Parkinson's Disease The MJFF Global Genetic PD Cohort
title	Embracing Monogenic Parkinson's Disease
spellingShingle	Embracing Monogenic Parkinson's Disease Vollstedt, Eva Juliane\|\|\|0000-0002-6898-9201 Parkinson's disease Monogenic PD
title_short	Embracing Monogenic Parkinson's Disease
title_full	Embracing Monogenic Parkinson's Disease
title_fullStr	Embracing Monogenic Parkinson's Disease
title_full_unstemmed	Embracing Monogenic Parkinson's Disease
title_sort	Embracing Monogenic Parkinson's Disease
dc.creator.none.fl_str_mv	Vollstedt, Eva Juliane\|\|\|0000-0002-6898-9201 Schaake, Susen Lohmann, Katja\|\|\|0000-0002-5121-1460 Padmanabhan, Shalini Brice, Alexis\|\|\|0000-0002-0941-3990 Lesage, Suzanne Tesson, Christelle Vidailhet, Marie Wurster, Isabel Hentati, Faycel Mirelman, Anat\|\|\|0000-0002-1520-2292 Giladi, Nir Marder, Karen S. Waters, Cheryl H. Fahn, Stanley Kasten, Meike Brüggemann, Norbert\|\|\|0000-0001-5969-6899 Borsche, Max\|\|\|0000-0002-9651-5986 Foroud, Tatiana Tolosa, Eduardo Garrido, Alicia\|\|\|0000-0003-0652-6348 Annesi, Grazia Gagliardi, Monica Bozi, Maria Stefanis, Leonidas Ferreira, Joaquim J.\|\|\|0000-0003-3950-5113 Correia Guedes, Leonor Avenali, Micol Petrucci, Simona Clark, Lorraine Fedotova, Ekaterina Y. Abramycheva, Natalya Y. Alvarez, Victoria\|\|\|0000-0002-1916-2523 Mendez-Gonzalez, Manuel\|\|\|0000-0002-5218-0774 Jesús Maestre, Silvia\|\|\|0000-0002-1874-4628 Gómez-Garre, Pilar\|\|\|0000-0002-0437-6182 Mir, Pablo\|\|\|0000-0003-1656-302X Belin, Andrea Carmine Ran, Caroline Lin, Chin-Hsien Kuo, Ming-Che\|\|\|0000-0003-3688-0225 Crosiers, David Wszolek, Zbigniew K.\|\|\|0000-0001-5487-1053 Ross, Owen A.\|\|\|0000-0003-4813-756X Jankovic, Joseph Nishioka, Kenya\|\|\|0000-0001-8607-9757 Funayama, Manabu Clarimón, Jordi\|\|\|0000-0002-6824-6942 Williams-Gray, Caroline\|\|\|0000-0002-2648-9743 Camacho, Marta\|\|\|0000-0002-1490-5703 Cornejo-Olivas, M.\|\|\|0000-0001-6313-5680 Torres-Ramirez, Luis Chang Gung Memorial Hospital. Linkou Medical Center (Taoyuan, Taiwan)\|\|\|0000-0003-1191-2542 Lee-Chen, Guey-Jen Morgadinho, Ana Pulkes, Teeratorn Termsarasab, Pichet\|\|\|0000-0002-3260-3119 Berg, Daniela Kuhlenbäumer, Gregor Kühn, Andrea A.\|\|\|0000-0002-4134-9060 Borngräber, Friederike\|\|\|0000-0001-9650-6820 de Michele, Giuseppe De Rosa, Anna Zimprich, Alexander\|\|\|0000-0002-1668-5177 Puschmann, Andreas Mellick, George D. Dorszewska, Jolanta Carr, Jonathan Ferese, Rosangela Gambardella, Stefano\|\|\|0000-0002-3727-4502 Chase, Bruce\|\|\|0000-0001-5491-7242 Markopoulou, Katerina Satake, Wataru Rossi, Malco\|\|\|0000-0003-3383-8566 Merello, Marcelo Lynch, Timothy Olszewska, Diana Angelika\|\|\|0000-0002-1814-8834 Lim, Shen-Yang Ahmad-Annuar, Azlina Tan, Ai Huey\|\|\|0000-0002-2979-3839 Al-Mubarak, Bashayer Hanagasi, Hasmet Koziorowski, Dariusz Ertan, Sibel Genç, Gençer de Carvalho Aguiar, Patricia Barkhuizen, Melinda\|\|\|0000-0002-9952-7085 Pimentel, Marcia M. G. Saunders-Pullman, Rachel van de Warrenburg, Bart Bressman, Susan Toft, Mathias\|\|\|0000-0002-6723-6865 Appel-Cresswell, Silke\|\|\|0000-0002-5986-1468 Lang, Anthony E. Skorvanek, Matej Boon, Agnita J. W. Krüger, Rejko\|\|\|0000-0003-4258-6241 Sammler, Esther\|\|\|0000-0003-3218-7116 Tumas, Vitor Zhang, Baorong\|\|\|0000-0002-8099-7407 Garraux, Gaetan Chung, Sun Ju\|\|\|0000-0003-4118-8233 Kim, Yun Joong Winkelmann, Juliane Sue, Carolyn M. Tan, Eng-King\|\|\|0000-0003-2977-9743 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\|\|\|0000-0001-8437-3645 Petersen, Maria Skaalum\|\|\|0000-0001-9404-8440 Valente, Enza Maria\|\|\|0000-0002-0600-6820 Farrer, Matthew\|\|\|0000-0003-1159-5321 Aasly, Anna Aasly, Jan O. Albanese, Alberto Alcalay, Roy N. Aldakheel, Amaal Alkhairallah, Thamer Al-tassan, Nada Amami, Paolo Leite, Marco Antonio Araujo Ballalai Ferraz, Henrique Bardien, Soraya Barrett, Matthew J. Başak, A. Nazli Bilgic, Basar Bloem, Bastiaan R. Bonifati, Vincenzo Brockmann, Kathrin\|\|\|0000-0002-7515-8596 Cesarini, Martin Emiliano Corvol, Jean Christophe Dieguez, Elena Fung, Victor S.C.\|\|\|0000-0003-3085-2282 Gatto, Emilia Mabel Hattori, Nobutaka Illarioshkin, Sergey\|\|\|0000-0002-2704-6282 Januario, Cristina\|\|\|0000-0002-6978-876X Kaasinen, Valtteri Kataoka, Hiroshi Kievit, Anneke A. Klein, Christine\|\|\|0000-0003-2102-3431 Lim, Jia Lun May, Patrick McCarthy, Allan Morales Briceno, Hugo Morris, Huw\|\|\|0000-0002-5473-3774 Mosejova, Alexandra Çakmak, Özgür Öztop Orr-Urtreger, Avi Pachchek, Sinthuja Procopio, Radha Ruiz-Martinez, Javier Santos Pereira, João\|\|\|0000-0002-3242-8461 Soto-Beasley, Alexandra I. Sousa, Mário\|\|\|0000-0002-2570-6435 Thaler, Avner Tepgeç, Fatih Toda, Tatsushi Uyguner, Zehra Oya Walton, Ronald L. Wu, Yih-Ru Wu, Ruey-Meei\|\|\|0000-0002-4947-5467
author	Vollstedt, Eva Juliane\|\|\|0000-0002-6898-9201
author_facet	Vollstedt, Eva Juliane\|\|\|0000-0002-6898-9201 Schaake, Susen Lohmann, Katja\|\|\|0000-0002-5121-1460 Padmanabhan, Shalini Brice, Alexis\|\|\|0000-0002-0941-3990 Lesage, Suzanne Tesson, Christelle Vidailhet, Marie Wurster, Isabel Hentati, Faycel Mirelman, Anat\|\|\|0000-0002-1520-2292 Giladi, Nir Marder, Karen S. Waters, Cheryl H. Fahn, Stanley Kasten, Meike Brüggemann, Norbert\|\|\|0000-0001-5969-6899 Borsche, Max\|\|\|0000-0002-9651-5986 Foroud, Tatiana Tolosa, Eduardo Garrido, Alicia\|\|\|0000-0003-0652-6348 Annesi, Grazia Gagliardi, Monica Bozi, Maria Stefanis, Leonidas Ferreira, Joaquim J.\|\|\|0000-0003-3950-5113 Correia Guedes, Leonor Avenali, Micol Petrucci, Simona Clark, Lorraine Fedotova, Ekaterina Y. Abramycheva, Natalya Y. Alvarez, Victoria\|\|\|0000-0002-1916-2523 Mendez-Gonzalez, Manuel\|\|\|0000-0002-5218-0774 Jesús Maestre, Silvia\|\|\|0000-0002-1874-4628 Gómez-Garre, Pilar\|\|\|0000-0002-0437-6182 Mir, Pablo\|\|\|0000-0003-1656-302X Belin, Andrea Carmine Ran, Caroline Lin, Chin-Hsien Kuo, Ming-Che\|\|\|0000-0003-3688-0225 Crosiers, David Wszolek, Zbigniew K.\|\|\|0000-0001-5487-1053 Ross, Owen A.\|\|\|0000-0003-4813-756X Jankovic, Joseph Nishioka, Kenya\|\|\|0000-0001-8607-9757 Funayama, Manabu Clarimón, Jordi\|\|\|0000-0002-6824-6942 Williams-Gray, Caroline\|\|\|0000-0002-2648-9743 Camacho, Marta\|\|\|0000-0002-1490-5703 Cornejo-Olivas, M.\|\|\|0000-0001-6313-5680 Torres-Ramirez, Luis Chang Gung Memorial Hospital. Linkou Medical Center (Taoyuan, Taiwan)\|\|\|0000-0003-1191-2542 Lee-Chen, Guey-Jen Morgadinho, Ana Pulkes, Teeratorn Termsarasab, Pichet\|\|\|0000-0002-3260-3119 Berg, Daniela Kuhlenbäumer, Gregor Kühn, Andrea A.\|\|\|0000-0002-4134-9060 Borngräber, Friederike\|\|\|0000-0001-9650-6820 de Michele, Giuseppe De Rosa, Anna Zimprich, Alexander\|\|\|0000-0002-1668-5177 Puschmann, Andreas Mellick, George D. Dorszewska, Jolanta Carr, Jonathan Ferese, Rosangela Gambardella, Stefano\|\|\|0000-0002-3727-4502 Chase, Bruce\|\|\|0000-0001-5491-7242 Markopoulou, Katerina Satake, Wataru Rossi, Malco\|\|\|0000-0003-3383-8566 Merello, Marcelo Lynch, Timothy Olszewska, Diana Angelika\|\|\|0000-0002-1814-8834 Lim, Shen-Yang Ahmad-Annuar, Azlina Tan, Ai Huey\|\|\|0000-0002-2979-3839 Al-Mubarak, Bashayer Hanagasi, Hasmet Koziorowski, Dariusz Ertan, Sibel Genç, Gençer de Carvalho Aguiar, Patricia Barkhuizen, Melinda\|\|\|0000-0002-9952-7085 Pimentel, Marcia M. G. Saunders-Pullman, Rachel van de Warrenburg, Bart Bressman, Susan Toft, Mathias\|\|\|0000-0002-6723-6865 Appel-Cresswell, Silke\|\|\|0000-0002-5986-1468 Lang, Anthony E. Skorvanek, Matej Boon, Agnita J. W. Krüger, Rejko\|\|\|0000-0003-4258-6241 Sammler, Esther\|\|\|0000-0003-3218-7116 Tumas, Vitor Zhang, Baorong\|\|\|0000-0002-8099-7407 Garraux, Gaetan Chung, Sun Ju\|\|\|0000-0003-4118-8233 Kim, Yun Joong Winkelmann, Juliane Sue, Carolyn M. Tan, Eng-King\|\|\|0000-0003-2977-9743 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\|\|\|0000-0001-8437-3645 Petersen, Maria Skaalum\|\|\|0000-0001-9404-8440 Valente, Enza Maria\|\|\|0000-0002-0600-6820 Farrer, Matthew\|\|\|0000-0003-1159-5321 Aasly, Anna Aasly, Jan O. Albanese, Alberto Alcalay, Roy N. Aldakheel, Amaal Alkhairallah, Thamer Al-tassan, Nada Amami, Paolo Leite, Marco Antonio Araujo Ballalai Ferraz, Henrique Bardien, Soraya Barrett, Matthew J. Başak, A. Nazli Bilgic, Basar Bloem, Bastiaan R. Bonifati, Vincenzo Brockmann, Kathrin\|\|\|0000-0002-7515-8596 Cesarini, Martin Emiliano Corvol, Jean Christophe Dieguez, Elena Fung, Victor S.C.\|\|\|0000-0003-3085-2282 Gatto, Emilia Mabel Hattori, Nobutaka Illarioshkin, Sergey\|\|\|0000-0002-2704-6282 Januario, Cristina\|\|\|0000-0002-6978-876X Kaasinen, Valtteri Kataoka, Hiroshi Kievit, Anneke A. Klein, Christine\|\|\|0000-0003-2102-3431 Lim, Jia Lun May, Patrick McCarthy, Allan Morales Briceno, Hugo Morris, Huw\|\|\|0000-0002-5473-3774 Mosejova, Alexandra Çakmak, Özgür Öztop Orr-Urtreger, Avi Pachchek, Sinthuja Procopio, Radha Ruiz-Martinez, Javier Santos Pereira, João\|\|\|0000-0002-3242-8461 Soto-Beasley, Alexandra I. Sousa, Mário\|\|\|0000-0002-2570-6435 Thaler, Avner Tepgeç, Fatih Toda, Tatsushi Uyguner, Zehra Oya Walton, Ronald L. Wu, Yih-Ru Wu, Ruey-Meei\|\|\|0000-0002-4947-5467
author_role	author
author2	Schaake, Susen Lohmann, Katja\|\|\|0000-0002-5121-1460 Padmanabhan, Shalini Brice, Alexis\|\|\|0000-0002-0941-3990 Lesage, Suzanne Tesson, Christelle Vidailhet, Marie Wurster, Isabel Hentati, Faycel Mirelman, Anat\|\|\|0000-0002-1520-2292 Giladi, Nir Marder, Karen S. Waters, Cheryl H. Fahn, Stanley Kasten, Meike Brüggemann, Norbert\|\|\|0000-0001-5969-6899 Borsche, Max\|\|\|0000-0002-9651-5986 Foroud, Tatiana Tolosa, Eduardo Garrido, Alicia\|\|\|0000-0003-0652-6348 Annesi, Grazia Gagliardi, Monica Bozi, Maria Stefanis, Leonidas Ferreira, Joaquim J.\|\|\|0000-0003-3950-5113 Correia Guedes, Leonor Avenali, Micol Petrucci, Simona Clark, Lorraine Fedotova, Ekaterina Y. Abramycheva, Natalya Y. Alvarez, Victoria\|\|\|0000-0002-1916-2523 Mendez-Gonzalez, Manuel\|\|\|0000-0002-5218-0774 Jesús Maestre, Silvia\|\|\|0000-0002-1874-4628 Gómez-Garre, Pilar\|\|\|0000-0002-0437-6182 Mir, Pablo\|\|\|0000-0003-1656-302X Belin, Andrea Carmine Ran, Caroline Lin, Chin-Hsien Kuo, Ming-Che\|\|\|0000-0003-3688-0225 Crosiers, David Wszolek, Zbigniew K.\|\|\|0000-0001-5487-1053 Ross, Owen A.\|\|\|0000-0003-4813-756X Jankovic, Joseph Nishioka, Kenya\|\|\|0000-0001-8607-9757 Funayama, Manabu Clarimón, Jordi\|\|\|0000-0002-6824-6942 Williams-Gray, Caroline\|\|\|0000-0002-2648-9743 Camacho, Marta\|\|\|0000-0002-1490-5703 Cornejo-Olivas, M.\|\|\|0000-0001-6313-5680 Torres-Ramirez, Luis Chang Gung Memorial Hospital. Linkou Medical Center (Taoyuan, Taiwan)\|\|\|0000-0003-1191-2542 Lee-Chen, Guey-Jen Morgadinho, Ana Pulkes, Teeratorn Termsarasab, Pichet\|\|\|0000-0002-3260-3119 Berg, Daniela Kuhlenbäumer, Gregor Kühn, Andrea A.\|\|\|0000-0002-4134-9060 Borngräber, Friederike\|\|\|0000-0001-9650-6820 de Michele, Giuseppe De Rosa, Anna Zimprich, Alexander\|\|\|0000-0002-1668-5177 Puschmann, Andreas Mellick, George D. Dorszewska, Jolanta Carr, Jonathan Ferese, Rosangela Gambardella, Stefano\|\|\|0000-0002-3727-4502 Chase, Bruce\|\|\|0000-0001-5491-7242 Markopoulou, Katerina Satake, Wataru Rossi, Malco\|\|\|0000-0003-3383-8566 Merello, Marcelo Lynch, Timothy Olszewska, Diana Angelika\|\|\|0000-0002-1814-8834 Lim, Shen-Yang Ahmad-Annuar, Azlina Tan, Ai Huey\|\|\|0000-0002-2979-3839 Al-Mubarak, Bashayer Hanagasi, Hasmet Koziorowski, Dariusz Ertan, Sibel Genç, Gençer de Carvalho Aguiar, Patricia Barkhuizen, Melinda\|\|\|0000-0002-9952-7085 Pimentel, Marcia M. G. Saunders-Pullman, Rachel van de Warrenburg, Bart Bressman, Susan Toft, Mathias\|\|\|0000-0002-6723-6865 Appel-Cresswell, Silke\|\|\|0000-0002-5986-1468 Lang, Anthony E. Skorvanek, Matej Boon, Agnita J. W. Krüger, Rejko\|\|\|0000-0003-4258-6241 Sammler, Esther\|\|\|0000-0003-3218-7116 Tumas, Vitor Zhang, Baorong\|\|\|0000-0002-8099-7407 Garraux, Gaetan Chung, Sun Ju\|\|\|0000-0003-4118-8233 Kim, Yun Joong Winkelmann, Juliane Sue, Carolyn M. Tan, Eng-King\|\|\|0000-0003-2977-9743 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\|\|\|0000-0001-8437-3645 Petersen, Maria Skaalum\|\|\|0000-0001-9404-8440 Valente, Enza Maria\|\|\|0000-0002-0600-6820 Farrer, Matthew\|\|\|0000-0003-1159-5321 Aasly, Anna Aasly, Jan O. Albanese, Alberto Alcalay, Roy N. Aldakheel, Amaal Alkhairallah, Thamer Al-tassan, Nada Amami, Paolo Leite, Marco Antonio Araujo Ballalai Ferraz, Henrique Bardien, Soraya Barrett, Matthew J. Başak, A. Nazli Bilgic, Basar Bloem, Bastiaan R. Bonifati, Vincenzo Brockmann, Kathrin\|\|\|0000-0002-7515-8596 Cesarini, Martin Emiliano Corvol, Jean Christophe Dieguez, Elena Fung, Victor S.C.\|\|\|0000-0003-3085-2282 Gatto, Emilia Mabel Hattori, Nobutaka Illarioshkin, Sergey\|\|\|0000-0002-2704-6282 Januario, Cristina\|\|\|0000-0002-6978-876X Kaasinen, Valtteri Kataoka, Hiroshi Kievit, Anneke A. Klein, Christine\|\|\|0000-0003-2102-3431 Lim, Jia Lun May, Patrick McCarthy, Allan Morales Briceno, Hugo Morris, Huw\|\|\|0000-0002-5473-3774 Mosejova, Alexandra Çakmak, Özgür Öztop Orr-Urtreger, Avi Pachchek, Sinthuja Procopio, Radha Ruiz-Martinez, Javier Santos Pereira, João\|\|\|0000-0002-3242-8461 Soto-Beasley, Alexandra I. Sousa, Mário\|\|\|0000-0002-2570-6435 Thaler, Avner Tepgeç, Fatih Toda, Tatsushi Uyguner, Zehra Oya Walton, Ronald L. Wu, Yih-Ru Wu, Ruey-Meei\|\|\|0000-0002-4947-5467
author2_role	author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author
dc.contributor.none.fl_str_mv	Universitat Autònoma de Barcelona
dc.subject.none.fl_str_mv	Parkinson's disease Monogenic PD
topic	Parkinson's disease Monogenic PD
description	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. 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. 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. 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.
publishDate	2023
dc.date.none.fl_str_mv	2 2023-01-01 2023 2023-01-01
dc.type.none.fl_str_mv	Article http://purl.org/coar/resource_type/c_6501 VoR http://purl.org/coar/version/c_970fb48d4fbd8a85
dc.type.openaire.fl_str_mv	info:eu-repo/semantics/article
format	article
dc.identifier.none.fl_str_mv	https://ddd.uab.cat/record/303445 https://dx.doi.org/urn:doi:10.1002/mds.29288
url	https://ddd.uab.cat/record/303445 https://dx.doi.org/urn:doi:10.1002/mds.29288
dc.language.none.fl_str_mv	Inglés eng
language_invalid_str_mv	Inglés
language	eng
dc.rights.none.fl_str_mv	open access http://purl.org/coar/access_right/c_abf2 https://creativecommons.org/licenses/by/4.0/
dc.rights.openaire.fl_str_mv	info:eu-repo/semantics/openAccess
rights_invalid_str_mv	open access http://purl.org/coar/access_right/c_abf2 https://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv	openAccess
dc.format.none.fl_str_mv	application/pdf
dc.source.none.fl_str_mv	reponame:Dipòsit Digital de Documents de la UAB instname:Universitat Autònoma de Barcelona
instname_str	Universitat Autònoma de Barcelona
reponame_str	Dipòsit Digital de Documents de la UAB
collection	Dipòsit Digital de Documents de la UAB
repository.name.fl_str_mv
repository.mail.fl_str_mv
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spelling	Embracing Monogenic Parkinson's DiseaseThe MJFF Global Genetic PD CohortVollstedt, Eva Juliane\|\|\|0000-0002-6898-9201Schaake, SusenLohmann, Katja\|\|\|0000-0002-5121-1460Padmanabhan, ShaliniBrice, Alexis\|\|\|0000-0002-0941-3990Lesage, SuzanneTesson, ChristelleVidailhet, MarieWurster, IsabelHentati, FaycelMirelman, Anat\|\|\|0000-0002-1520-2292Giladi, NirMarder, Karen S.Waters, Cheryl H.Fahn, StanleyKasten, MeikeBrüggemann, Norbert\|\|\|0000-0001-5969-6899Borsche, Max\|\|\|0000-0002-9651-5986Foroud, TatianaTolosa, EduardoGarrido, Alicia\|\|\|0000-0003-0652-6348Annesi, GraziaGagliardi, MonicaBozi, MariaStefanis, LeonidasFerreira, Joaquim J.\|\|\|0000-0003-3950-5113Correia Guedes, LeonorAvenali, MicolPetrucci, SimonaClark, LorraineFedotova, Ekaterina Y.Abramycheva, Natalya Y.Alvarez, Victoria\|\|\|0000-0002-1916-2523Mendez-Gonzalez, Manuel\|\|\|0000-0002-5218-0774Jesús Maestre, Silvia\|\|\|0000-0002-1874-4628Gómez-Garre, Pilar\|\|\|0000-0002-0437-6182Mir, Pablo\|\|\|0000-0003-1656-302XBelin, Andrea CarmineRan, CarolineLin, Chin-HsienKuo, Ming-Che\|\|\|0000-0003-3688-0225Crosiers, DavidWszolek, Zbigniew K.\|\|\|0000-0001-5487-1053Ross, Owen A.\|\|\|0000-0003-4813-756XJankovic, JosephNishioka, Kenya\|\|\|0000-0001-8607-9757Funayama, ManabuClarimón, Jordi\|\|\|0000-0002-6824-6942Williams-Gray, Caroline\|\|\|0000-0002-2648-9743Camacho, Marta\|\|\|0000-0002-1490-5703Cornejo-Olivas, M.\|\|\|0000-0001-6313-5680Torres-Ramirez, LuisChang Gung Memorial Hospital. Linkou Medical Center (Taoyuan, Taiwan)\|\|\|0000-0003-1191-2542Lee-Chen, Guey-JenMorgadinho, AnaPulkes, TeeratornTermsarasab, Pichet\|\|\|0000-0002-3260-3119Berg, DanielaKuhlenbäumer, GregorKühn, Andrea A.\|\|\|0000-0002-4134-9060Borngräber, Friederike\|\|\|0000-0001-9650-6820de Michele, GiuseppeDe Rosa, AnnaZimprich, Alexander\|\|\|0000-0002-1668-5177Puschmann, AndreasMellick, George D.Dorszewska, JolantaCarr, JonathanFerese, RosangelaGambardella, Stefano\|\|\|0000-0002-3727-4502Chase, Bruce\|\|\|0000-0001-5491-7242Markopoulou, KaterinaSatake, WataruRossi, Malco\|\|\|0000-0003-3383-8566Merello, MarceloLynch, TimothyOlszewska, Diana Angelika\|\|\|0000-0002-1814-8834Lim, Shen-YangAhmad-Annuar, AzlinaTan, Ai Huey\|\|\|0000-0002-2979-3839Al-Mubarak, BashayerHanagasi, HasmetKoziorowski, DariuszErtan, SibelGenç, Gençerde Carvalho Aguiar, PatriciaBarkhuizen, Melinda\|\|\|0000-0002-9952-7085Pimentel, Marcia M. G.Saunders-Pullman, Rachelvan de Warrenburg, BartBressman, SusanToft, Mathias\|\|\|0000-0002-6723-6865Appel-Cresswell, Silke\|\|\|0000-0002-5986-1468Lang, Anthony E.Skorvanek, MatejBoon, Agnita J. W.Krüger, Rejko\|\|\|0000-0003-4258-6241Sammler, Esther\|\|\|0000-0003-3218-7116Tumas, VitorZhang, Baorong\|\|\|0000-0002-8099-7407Garraux, GaetanChung, Sun Ju\|\|\|0000-0003-4118-8233Kim, Yun JoongWinkelmann, JulianeSue, Carolyn M.Tan, Eng-King\|\|\|0000-0003-2977-9743Damásio, JoanaKlivényi, PéterKostic, Vladimir S.Arkadir, DavidMartikainen, MikaBorges, VanderciHertz, Jens MichaelBrighina, LauraSpitz, MarianaSuchowersky, OksanaRiess, OlafDas, ParimalMollenhauer, Brit\|\|\|0000-0001-8437-3645Petersen, Maria Skaalum\|\|\|0000-0001-9404-8440Valente, Enza Maria\|\|\|0000-0002-0600-6820Farrer, Matthew\|\|\|0000-0003-1159-5321Aasly, AnnaAasly, Jan O.Albanese, AlbertoAlcalay, Roy N.Aldakheel, AmaalAlkhairallah, ThamerAl-tassan, NadaAmami, PaoloLeite, Marco Antonio AraujoBallalai Ferraz, HenriqueBardien, SorayaBarrett, Matthew J.Başak, A. NazliBilgic, BasarBloem, Bastiaan R.Bonifati, VincenzoBrockmann, Kathrin\|\|\|0000-0002-7515-8596Cesarini, Martin EmilianoCorvol, Jean ChristopheDieguez, ElenaFung, Victor S.C.\|\|\|0000-0003-3085-2282Gatto, Emilia MabelHattori, NobutakaIllarioshkin, Sergey\|\|\|0000-0002-2704-6282Januario, Cristina\|\|\|0000-0002-6978-876XKaasinen, ValtteriKataoka, HiroshiKievit, Anneke A.Klein, Christine\|\|\|0000-0003-2102-3431Lim, Jia LunMay, PatrickMcCarthy, AllanMorales Briceno, HugoMorris, Huw\|\|\|0000-0002-5473-3774Mosejova, AlexandraÇakmak, Özgür ÖztopOrr-Urtreger, AviPachchek, SinthujaProcopio, RadhaRuiz-Martinez, JavierSantos Pereira, João\|\|\|0000-0002-3242-8461Soto-Beasley, Alexandra I.Sousa, Mário\|\|\|0000-0002-2570-6435Thaler, AvnerTepgeç, FatihToda, TatsushiUyguner, Zehra OyaWalton, Ronald L.Wu, Yih-RuWu, Ruey-Meei\|\|\|0000-0002-4947-5467Parkinson's diseaseMonogenic PDAs 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. 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. 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. 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.Universitat Autònoma de Barcelona 22023-01-0120232023-01-01Articlehttp://purl.org/coar/resource_type/c_6501VoRhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleapplication/pdfhttps://ddd.uab.cat/record/303445https://dx.doi.org/urn:doi:10.1002/mds.29288reponame:Dipòsit Digital de Documents de la UABinstname:Universitat Autònoma de BarcelonaInglésengopen accesshttp://purl.org/coar/access_right/c_abf2Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.https://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:ddd.uab.cat:3034452026-06-06T12:50:31Z
score	15,811543

Embracing Monogenic Parkinson's Disease

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