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

A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease

Autor: Di Fonzo, Alessio, Rohé, Christan F, Ferreira, Joaquim, Chien, Hsin F, Vacca, Laura, Stocchi, Fabrizio, Guedes, Leonor, Fabrizio, Edito, Manfredi, Mario, Vanacore, Nicola, Goldwurm, Stefano, Breedveld, Guido, Sampaio, Cristina, Meco, Giuseppe, Barbosa, Egberto, Oostra, Ben A, Bonifati, Vincenzo

Publikováno v: In The Lancet 2005 365(9457):412-415

High prevalence of extrapyramidal signs and symptoms in a group of Italian dental technicians

Autor: Rubino Alfonso, Valente Marcella, Vanacore Nicola, Fabrizio Edito, Meco Giuseppe

Publikováno v: BMC Neurology, Vol 7, Iss 1, p 24 (2007)

Abstract Background Occupational and chronic exposure to solvents and metals is considered a possible risk factor for Parkinson's disease and essential tremor. While manufacturing dental prostheses, dental technicians are exposed to numerous chemical

Externí odkaz: https://doaj.org/article/a5914813bdfb4401ae8afb28675b7de5

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Aripiprazole in L-dopa-induced dyskinesias: a one-year open-label pilot study

Autor: Carlo Purcaro, Nicola Vanacore, Giuseppe Meco, Fabrizio Edito, Paola Stirpe, Silvia Bernardi, Marcella Valente

Publikováno v: Journal of neural transmission (Vienna, Austria : 1996). 116(7)

Aripiprazole is a novel antipsychotic medication characterized by partial agonism at the D2 and 5-HT1A receptors and by antagonism at the 5-HT2A receptor. The aim of the present study was to evaluate, in an open-label pilot study, the effects and saf

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ba903208f5b003eeac595e7d1b6404d
https://pubmed.ncbi.nlm.nih.gov/19533295