Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort

Autor: 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, Karen, Marder, 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, Gregor, Kuhlenbäumer, Kühn, Andrea A., Borngräber, Friederike, de Michele, Giuseppe, De Rosa, Anna, Zimprich, Alexander, Puschmann, Andreas, Mellick, George D., Jolanta, Dorszewska, Carr, Jonathan, Ferese, Rosangela, Stefano, Gambardella, Chase, Bruce, Markopoulou, Katerina, Wataru, Satake, 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, Gen c, Gen Cer, de Carvalho Aguiar, Patricia, Barkhuizen, Melinda, Pimentel, Marcia M. G., Saunders-Pullman, Rachel, van de Warrenburg, Bart, Bressman, Susan, Toft, Mathias, Appel-Cresswell, Silke, Lang, Anthony E., Skorvanek, Matej, Boon, Agnita J. W., Krüger, Rejko, Sammler, Esther M., Tumas, Vitor, Zhang, Bao-Rong, Garraux, Gaetan, Chung, Sun Ju, Joong, Kim Yun, Winkelmann, Juliane, Sue, Carolyn M., Eng-King, Tan, Damásio, Joana, Klivényi, Péter, Kostic, Vladimir S., Arkadir, David, Martikainen, Mika, Borges, Vanderci, Hertz, Jens Michael, Brighina, Laura, Spitz, Mariana, Suchowersky, Oksana, Riess, Olaf, Parimal, Das, Mollenhauer, Brit, Gatto, Emilia M., Skaalum, Petersen Maria, Wu, Ruey-Meei, Illarioshkin, Sergey N., Valente, Enza Maria, Aasly, Jan O., Aasly, Anna, N, Alcalay Roy, Thaler, Avner, Farrer, Matthew J., Kathrin, Brockmann, Corvol, Jean-Christophe, Klein, Christine, Albanese, Alberto, Alcalay, Roy N., Aldakheel, Amaal, Alkhairallah, Thamer, Bashayer, Al-Mubarak, Al-Tassan, Nada, Paolo, Amami, Araujo, Leite Marco Antonio, Ferraz, Henrique Ballalai, Bardien, Soraya, Melinda, Barkhuizen, Barrett, Matthew J., Ba sak, A. Nazl I, Bilgic, Basar, Bloem, Bastiaan R., Bonifati, Vincenzo, Brockmann, Kathrin, Cesarini, Martin Emiliano, Ju, Chung Sun, Guedes, Leonor Correia, Lorraine, Clark, Dieguez, Elena, Dorszewska, Jolanta, Fung, Victor S. C., Pilar, Gómez-Garre, Hattori, Nobutaka, Faycel, Hentati, Januario, Cristina, Maestre, Silvia Jesús, Kaasinen, Valtteri, Hiroshi, Kataoka, Kievit, Anneke A., Kim, Yun Joong, Christine, Klein, Kuhlenbäumer, Gregor, Lim, Jia Lun, Timothy, Lynch, Marder, Karen, May, Patrick, McCarthy, Allan, Briceno, Hugo Morales, Morris, Huw, Mosejova, Alexandra, Cakmak, Özgür Öztop, Orr-Urtreger, Avi, Pachchek, Sinthuja, Periñ\'an, Maria Teresa, Procopio, Radha, Ruiz-Martinez, Javier, Pereira, João Santos, Satake, Wataru, Soto-Beasley, Alexandra I., Sousa, Mário, Tan, Eng-King, Tepge c, Fatih, Uyguner, Oya, Walton, Ronald L., H, Williams-Gray Caroline, Isabel, Wurster, Bao-Rong, Zhang

Publikováno v: info:eu-repo/grantAgreement/EC/H2020/645360

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 subj

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2658::0bf8d876dcc8574ecffaf40374e28a0d
http://orbilu.uni.lu/handle/10993/55245

Heterogeneity of prodromal Parkinson symptoms in siblings of Parkinson disease patients

Autor: Baldelli, Luca, Schade, Sebastian, Jesús Maestre, Silvia, Schreglmann, Sebastian R., Gómez Garre, María del Pilar, Mir Rivera, Pablo, Labrador-Espinosa, Miguel Á., Periñán Tocino, María Teresa

A prodromal phase of Parkinson’s disease (PD) may precede motor manifestations by decades. PD patients’ siblings are at higher risk for PD, but the prevalence and distribution of prodromal symptoms are unknown. The study objectives were (1) to as

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3272::8ad3a0d893ee68dd33a07268713b29ee

Increased homocysteine levels correlate with cortical structural damage in Parkinson's disease

Autor: Sampedro, Frederic, Martínez-Horta, Saúl, Horta-Barba, Andrea, Grothe, Michel J., Labrador, Miguel Ángel, Jesús Maestre, Silvia, Adarmes Gómez, A. D., Carrillo, Fátima, Puig-Davi, Arnau, Roldán, Florinda, Aguilar Barberá, Miquel, Pastor, Pau, Escalante, Sonia, Solano Vila, Berta, Cots Foraster, A., Ruiz Martínez, Javier, Carrillo Padilla, Francisco, Pueyo Morlans, M., González-Aramburu, Isabel, Infante, Jon, Hernández-Vara, Jorge, Fábregues-Boixar, Oriol de, Deus Fonticoba, T. de, Ávila, Asunción, Martínez-Castrillo, J. C., Bejr-Kasem, Helena, Campolongo, Antonia, Pascual-Sedano, Berta, COPPADIS Study Group, Martínez-Martín, Pablo, Santos-García, Diego, Mir, Pablo, Kulisevsky, Jaime

Publikováno v: JOURNAL OF THE NEUROLOGICAL SCIENCES
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname

[Background] Blood homocysteine appears to be increased in Parkinson's disease (PD) and may play a role in the development and progression of this disorder. However, the specific contribution of abnormal homocysteine levels to cortical degeneration i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41ca2dde72c05bd3818faa8b09f65e78
https://doi.org/10.1016/j.jns.2022.120148

Movement disorders. Etiology. Classification. Chorea syndromes and dystonia

Autor: Jesús Maestre, Silvia

Publikováno v: Digital.CSIC. Repositorio Institucional del CSIC
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[ES] La semiología de los trastornos del movimiento es variada. Se pueden clasificar según el tipo de movimiento y síndrome. Entre los síndromes hipocinéticos destaca el parkinsonismo y entre los hipercinéticos la distonía, las mioclonías, lo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::c2cc5d3e0a4000b90aac4cb414da1766
http://hdl.handle.net/10261/201437

Estudio de los genes implicados en la fisiopatología de la enfermedad de Parkinson

Autor: Jesús Maestre, Silvia

Publikováno v: Digital.CSIC. Repositorio Institucional del CSIC
instname

En la etiopatogenia de la enfermedad de Parkinson están implicados factores tóxico-ambientales y genéticos. Entre los factores tóxico-metabólicos se encuentran los mecnismos de excitotoxicidad, neuroinflamación, disfunción mitocondrial y alter

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::9003cbea1ab3a0a1996bf1ec2a250cde
http://hdl.handle.net/10261/143642