Ambroxol as a disease-modifying treatment to reduce the risk of cognitive impairment in GBA-associated Parkinson’s disease: a multicentre, randomised, double-blind, placebo-controlled, phase II trial. The AMBITIOUS study protocol

Autor: Matteo Gastaldi, Diego Franciotta, Mario Cirillo, Sara Prioni, Micol Avenali, Fabrizio Esposito, Chiara Reale, Valentina Leta, Enza Maria Valente, Anna Pichiecchio, Barbara Garavaglia, Roberto Eleopra, Marina Grisoli, Roberto Cilia, Luigi Romito, Maria Grazia Bruzzone, Alessandro Tessitore, Ilaria Palmieri, Giada Cuconato, Fabiana Colucci, Pierfrancesco Mitrotti, Rosita De Micco, Marco Fusar Poli, Silvia Cerri, Mario Stanziano, Ana Bacila, Valentina Franco, Cristina Ghezzi, Antonio Emanuele Elia, Grazia Devigili, Nico Golfrè Andreasi, Federico Cazzaniga, Caterina Galandra, Giancarlo Germani, Gerardo Ongari, Marta Picascia, Mattia Verri, Federica Di Nardo, Simone Aloisio, Mattia Siciliano, Paolo Amami, Sylvie Piacentini, Fabio Moda

Publikováno v: BMJ Neurology Open, Vol 5, Iss 2 (2023)

Background Heterozygous mutations in the GBA gene, encoding the lysosomal enzyme β-glucocerebrosidase (GCase), are the most frequent genetic risk factor for Parkinson’s disease (PD). GBA-related PD (GBA-PD) patients have higher risk of dementia an

Externí odkaz: https://doaj.org/article/f4439946eac245c38832074e55e2c953

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

Contributors

Autor: Michelle M. Adams, Cédric Albinet, Banu Alicioglu, Paolo Amami, Nathalie André, Narin Ilgim Ardic-Avci, Elizabeth Arslanoglou, Guilherme Giannini Artioli, Michel Audiffren, Hande Ozge Aydogan, Francisco Javier Belchí, Marvin H. Berman, Ondrej Bezdicek, Cynthia Bianco, Jasmina Boban, Carlos Roberto Bueno Júnior, Blake E. Butler, Daniele Cartelli, Augusto Pietro Casani, Dilan Celebi-Birand, Zikuan Chen, Zeyuan Chen, Bihong T. Chen, Katie E. Cherry, Christian Chicherio, Jeshya A. Chio, Pere Clavé, Victoria C. Cogger, Márcia Regina Cominetti, Ma Fe P. de Guzman, Maria Clarissa O. del Moral, Eimear Dolan, Jacqueline C. Dominguez, Premchand Dommaraju, Theresa Ebo, Melissa K. Edler, Begun Erbaba, Ghazaleh Eskandari-Sedighi, Delphine Fagot, Fereshteh Farajdokht, Isabel Fariñas, Laís Francielle Francisca Felício, Luiz Felipe da Silva Figueiredo, Karen L. Fortuna, Máximo Ibo Galindo, Ekavi N. Georgousopoulou, Rahul Gokarn, Gabriel Gold, Hayley Groetz, Bruno Gualano, G.M. Halliday, Erin E. Harrington, Claudia Heidenreich, Boris Henčić, Rafael Hernández, Björn Herrmann, Jasna Jančić, R.C. Jeżewski, Hulusi Kafaligonul, Hakki Muammer Karakas, Elif Tugce Karoglu-Eravsar, Dimitris Kiosses, Dusko Kozic, Enikö Kövari, Lewis H. Kuller, Thomas J. LaRocca, David G. Le Couteur, Gary Jek Chong Lee, Unax Lertxundi, Víctor López del Amo, Mariana Luciano de Almeida, Javad Mahmoudi, João O. Malva, Patricia Regina Manzine, Beatriz Martins, Douglas B. Matthews, Derval McCormack, Juan Medrano, Duane D. Mellor, Juan C. Meléndez, Jonas Mengel-From, Jelena Milić, Jody Monkovic, Renato Sobral Monteiro-Junior, Ricardo Moreira, Emily L. Munger, Elena Navari, M. Christopher Newland, João Novo, Reinaldo B. Oriá, Fiadhnait O’Keeffe, Demosthenes B. Panagiotakos, Frederico C. Pereira, Ana Perez-Villalba, Rafaela Peron, Victor R. Preedy, Mary Ann Raghanti, Simona Raimo, Rajkumar Rajendram, Ana López Ramírez, Ramon Raposo, David Raubenheimer, Punam Rawal, Celinda Reese-Melancon, Hannah Reich, Carmen Requena, Carlos Fontes Ribeiro, Ana Carolina de Mello Alves Rodrigues, Luis Miguel Rondón García, Rosa Raquel Ruiz Trascastro, Saeed Sadigh-Eteghad, Farzad Salehpour, Janko Samardžić, Gabriella Santangelo, Encarnación Satorres, Andrew N. Shen, C.E. Shepherd, Stephen J. Simpson, Marina Yazigi Solis, Samantha M. Solon-Biet, Dunja Stankić, Timo E. Strandberg, Astrid M. Suchy-Dicey, Andrea Tapia, Majda M. Thurnher, Paula Álvarez-Merino, Noemí Tomsen, Luigi Trojano, Melek Umay Tuz-Sasik, Henryk F. Urbanski, Rodrigo Portes Ureshino, Ed van Beeck, Candice E. Van Skike, Izabela Pereira Vatanabe, Devin Wahl, David Westaway, Shawn Wong, Long Wu, Túlio Brandão Xavier-Rocha, Janko Zeković, Xin Zhang, Liqin Zhao

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::29030ec9d0d9b573eaa7429179db2306
https://doi.org/10.1016/b978-0-12-818000-6.01002-7

Impulse control behavior in GBA-mutated parkinsonian patients

Autor: Alberto Albanese, Paolo Amami, Barbara Garavaglia, Federica Invernizzi, Tiziana De Santis

Publikováno v: Journal of the neurological sciences. 421

Objective To assess the prevalence and phenomenology of Impulse control behavior (ICB) in Parkinson's disease (PD) patients carrying mutations in the β-glucocerebrosidase (GBA) gene. Background GBA mutations are a common genetic factor predisposing

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40a1f5184cf609d6e1aaf24a75d83e89
https://pubmed.ncbi.nlm.nih.gov/33383316

Shifting from constant-voltage to constant-current in Parkinson’s disease patients with chronic stimulation

Autor: Marcello Mario Mascia, Alberto Albanese, Angelo Franzini, Paolo Amami, F Saba

Publikováno v: Neurological Sciences. 38:1505-1508

The study aimed to evaluate safety and efficacy of shifting stimulation settings from constant-voltage (CV) to constant-current (CC) programming in patients with Parkinson's disease (PD) and chronic subthalamic nucleus deep brain stimulation (STN DBS

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4f94a53c7b62721a5137ba0d4a927d2
https://doi.org/10.1007/s10072-017-2961-2