Huntington disease: DNA analysis in brazilian population

Autor: RASKIN SALMO, ALLAN NASSER, TEIVE HÉLIO A.G., CARDOSO FRANCISCO, HADDAD MÔNICA SANTORO, LEVI GILBERTO, BOY RAQUEL, LERENA JR JUAN, SOTOMAIOR VANESSA SANTOS, JANZEN-DÜCK MÔNICA, JARDIM LAURA BANNACH, FELLANDER FLÁVIO R., ANDRADE LUIZ AUGUSTO FRANCO

Publikováno v: Arquivos de Neuro-Psiquiatria, Vol 58, Iss 4, Pp 977-985 (2000)

Huntington disease (HD) is associated with expansions of a CAG trinucleotide repeat in the HD gene. Accurate measurement of a specific CAG repeat sequence in the HD gene in 92 Brazilian controls without HD, 44 Brazilian subjects with clinical finding

Externí odkaz: https://doaj.org/article/2e4001b00f3d41ed9413934f8c90b0e7

Equaliza\c{c}\~ao das escalas NESSCA e SARA utilizando a Teoria da Resposta ao Item na avalia\c{c}\~ao do comprometimento pela doen\c{c}a de Machado-Joseph

Autor: Utpott, Nicole Machado, Leotti, Vanessa Bielefeldt, Jardim, Laura Bannach

Background: Scale equating is a statistical technique used to establish equivalence relations between different scales. Its use is quite popular in educational evaluation, however, unusual in the health area, where scales of measures are tools that i

Externí odkaz: http://arxiv.org/abs/2005.04203

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Novel Machado-Joseph disease-modifying genes and pathways identified by whole-exome sequencing

Autor: Raposo, Mafalda, Bettencourt, Conceição, Melo, Ana Rosa Vieira, Ferreira, Ana F., Alonso, Isabel, Silva, Paulo, Vasconcelos, João, Kay, Teresa, Saraiva-Pereira, Maria Luiza, Costa, Marta D., Vilasboas-Campos, Daniela, Bettencourt, Bruno Filipe, Bruges-Armas, Jácome, Houlden, Henry, Heutink, Peter, Jardim, Laura Bannach, Sequeiros, Jorge, Maciel, Patrícia, Lima, Manuela

Publikováno v: In Neurobiology of Disease January 2022 162

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