Quantitative MRI protocol and decision model for a ‘one stop shop’ early-stage Parkinsonism diagnosis: Study design

Autor: Seada, Samy Abo, van der Eerden, Anke W., Boon, Agnita J.W., Hernandez-Tamames, Juan A.

Publikováno v: In NeuroImage: Clinical 2023 39

PTPA variants and impaired PP2A activity in early-onset parkinsonism with intellectual disability

Autor: Fevga, Christina, Tesson, Christelle, Carreras Mascaro, Ana, Courtin, Thomas, Van Coller, Riaan, Sakka, Salma, Ferraro, Federico, Farhat, Nouha, Bardien, Soraya, Damak, Mariem, Carr, Jonathan, Ferrien, Melanie, Boumeester, Valerie, Hundscheid, Jasmijn, Grillenzoni, Nicola, Kessissoglou, Irini A., Kuipers, Demy J.S., Quadri, Marialuisa, Agid, Yves, Anheim, Mathieu, Borg, Michel, Brice, Alexis, Broussolle, Emmanuel, Corvol, Jean Christophe, Damier, Philippe, Defebvre, Luc, Dürr, Alexandra, Durif, Franck, Houeto, Jean Luc, Krack, Paul, Klebe, Stephan, Lesage, Suzanne, Lohmann, Ebba, Martinez, Maria, Mangone, Graziella, Mariani, Louise Laure, Pollak, Pierre, Rascol, Olivier, Tison, François, Tranchant, Christine, Verin, Marc, Viallet, François, Vidailhet, Marie, Emre, Murat, Hanagasi, Hasmet, Bilgic, Basar, Lu, Bedia Marangozog, Benmahdjoub, Mustapha, Arezki, Mohammed, Bouchetara, Sofiane A., Benhassine, Traki, Tazir, Meriem, Djebara, Mouna Ben, Gouider, Riadh, Romdhan, Sawssan Ben, Mhiri, Chokri, Bouhouche, Ahmed, Bonifati, Vincenzo, Mandemakers, Wim, Kievit, Anneke J.A., Boon, Agnita J.W., Ferreira, Joaquim J., Guedes, Leonor Correia, Hanagasi, Hasmet A., Tufekcioglu, Zeynep, Elibol, Bulent, Dog.u, Okan, Gultekin, Murat, Chien, Hsin F., Barbosa, Egberto, Jardim, Laura Bannach, Rieder, Carlos R.M., Chang, Hsiu Chen, Lu, Chin Song, Wu-Chou, Yah Huei, Yeh, Tu Hsueh, Lopiano, Leonardo, Tassorelli, Cristina, Pacchetti, Claudio, Comi, Cristoforo, Raudino, Francesco, Bertolasi, Laura, Tinazzi, Michele, Bonizzato, Alberto, Ferracci, Carlo, Marconi, Roberto, Guidi, Marco, Onofrj, Marco, Thomas, Astrid, Vanacore, Nicola, Meco, Giuseppe, Fabrizio, Edito, Fabbrini, Giovanni, Berardelli, Alfredo, Stocchi, Fabrizio, Vacca, Laura, Barone, Paolo, Picillo, Marina, De Michele, Giuseppe, Criscuolo, Chiara, De Mari, Michele, Dell'aquila, Claudia, Iliceto, Giovanni, Toni, Vincenzo, Trianni, Giorgio, Saddi, Valeria, Cossu, Gianni, Melis, Maurizio, Hassan, Bassem A., Breedveld, Guido J.

Publikováno v: Brain-A Journal of Neurology
Brain-A Journal of Neurology, 2022, ⟨10.1093/brain/awac326⟩
Brain, 146(4), 1496-1510. Oxford University Press

The protein phosphatase 2A complex (PP2A), the major Ser/Thr phosphatase in the brain, is involved in a number of signalling pathways and functions, including the regulation of crucial proteins for neurodegeneration, such as alpha-synuclein, tau and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4634226607f849d55d2ca371febf3961
https://pure.eur.nl/en/publications/78fc2deb-1e8c-44f0-88fe-253f506ffb0e

New insights in the neurological phenotype of aceruloplasminemia in Caucasian patients

Autor: Vroegindeweij, Lena H.P., Langendonk, Janneke G., Langeveld, Mirjam, Hoogendoorn, Mels, Kievit, Anneke J.A., Di Raimondo, Domenico, Wilson, J.H. Paul, Boon, Agnita J.W.

Publikováno v: In Parkinsonism and Related Disorders March 2017 36:33-40

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, 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 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, 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, Aasly, Anna, Alcalay, Roy N., Thaler, Avner, Farrer, Matthew J., Brockmann, Kathrin, Corvol, Jean-Christophe, Klein, Christine

Publikováno v: 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 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 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 Aasly, Anna Alcalay, Roy N. Thaler, Avner Farrer, Matthew J. Brockmann, Kathrin Corvol, Jean-Christophe Klein, Christine . Embracing monogenic Parkinson's disease: The MJFF Global Genetic PD Cohort. Movement Disorders. 2023, 38(2), 286-303
Movement Disorders

Externí odkaz: http://hdl.handle.net/10852/107128

Serum neurofilament light chain in progressive supranuclear palsy

Autor: Donker Kaat, Laura, Meeter, Lieke H., Chiu, Wan Zheng, Melhem, Shami, Boon, Agnita J.W., Blennow, Kaj, Zetterberg, Henrik, van Swieten, John C.

Publikováno v: In Parkinsonism and Related Disorders November 2018 56:98-101