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

Carrier Testing Program in a High-Risk Cystic Fibrosis Population from Northeastern Italy : Active Recruitment of Relatives via Probands’ Parents

Autor: Borgo, Graziella, Castellani, Carlo, Bonizzato, Alberto, Rolfini, Rossella, Altieri, Sara, Zanolla, Luisa, Mastella, Gianni

Publikováno v: Community Genetics, 1999 Jan 01. 2(2/3), 82-90.

Externí odkaz: https://www.jstor.org/stable/26664450

Frequency of large CFTR gene rearrangements in Italian CF patients.

Autor: Bombieri, Cristina¹ cristina.bombieri@medgen.univr.it, Bonizzato, Alberto², Castellani, Carlo², Assael, Baroukh M.², Pignatti, Pier Franco¹

Publikováno v: European Journal of Human Genetics. May2005, Vol. 13 Issue 5, p687-689. 3p.

A frameshift mutation (2869insG) in the second transmembrane domain of the CFTR gene: identification, regional distribution, and clinical presentation [letter]

Autor: Nunes, V., Bonizzato, Alberto, Gaona, A., Dognini, M., Chillon, M., Casals, T., Pignatti, Pierfranco, Novelli, G., Estivill, X., Gasparini, Paolo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______1943::d31c1c4d9f215f7d7ec2311abf43855a
http://hdl.handle.net/11562/4036

A 1.1-kb duplication in the p67-phox gene causes chronic granulomatous disease.

Autor: Borgato, Lorena, Bonizzato, Alberto, Lunardi, Claudio, Dusi, Stefano, Andrioli, Giuseppe, Scarperi, Anna, Corrocher, Roberto

Publikováno v: Human Genetics; Jun2001, Vol. 108 Issue 6, p504-510, 7p