Search Results - "Palminha, Catia"

Adenosine Kinase Deficiency in the Brain Results in Maladaptive Synaptic Plasticity by Sandau, Ursula S, Colino-Oliveira, Mariana, Jones, Abbie, Saleumvong, Bounmy, Coffman, Shayla Q, Liu, Long, Miranda-Lourenço, Catarina, Palminha, Cátia, Batalha, Vânia L, Xu, Yiming, Huo, Yuqing, Diógenes, Maria J, Sebastião, Ana M, Boison, Detlev

“…Adenosine kinase (ADK) deficiency in human patients (OMIM:614300) disrupts the methionine cycle and triggers hypermethioninemia, hepatic encephalopathy,…”
Get full text

FLNA regulates neuronal maturation by modulating RAC1-Cofilin activity in the developing cortex by Falace, Antonio, Corbieres, Lea, Palminha, Catia, Guarnieri, Fabrizia Claudia, Schaller, Fabienne, Buhler, Emmanuelle, Tuccari di San Carlo, Clara, Montheil, Aurelie, Watrin, Françoise, Manent, Jean Bernard, Represa, Alfonso, de Chevigny, Antoine, Pallesi-Pocachard, Emilie, Cardoso, Carlos

“…Periventricular nodular heterotopia (PNH), the most common brain malformation diagnosed in adulthood, is characterized by the presence of neuronal nodules…”
Get full text

Impairment of adenosinergic system in Rett syndrome: Novel therapeutic target to boost BDNF signalling by Miranda-Lourenço, Catarina, Duarte, Sofia T., Palminha, Cátia, Gaspar, Cláudia, Rodrigues, Tiago M., Magalhães-Cardoso, Teresa, Rei, Nádia, Colino-Oliveira, Mariana, Gomes, Rui, Ferreira, Sara, Rosa, Jéssica, Xapelli, Sara, Armstrong, Judith, García-Cazorla, Àngels, Correia-de-Sá, Paulo, Sebastião, Ana M., Diógenes, Maria José

“…Rett syndrome (RTT; OMIM#312750) is mainly caused by mutations in the X-linked MECP2 gene (methyl-CpG-binding protein 2 gene; OMIM*300005), which leads to…”
Get full text

Reestablishment of adenosine levels: a possible strategy for Rett Syndrome by Miranda-Lourenço, Catarina, Duarte, Sofia, Palminha, Cátia, Colino-Oliveira, Mariana, Rosa, Jéssica, Gomes, Rui, Rodrigues, Tiago, Xapelli, Sara, Lopes, Luísa, Sebastião, Ana, Diógenes, Maria

“…Abstract only…”
Get full text

Characterization of Adenosine Receptors in a Rett Syndrome Model by Palminha, Cátia

“…A síndroma de Rett (RTT) é uma doença de causa genética que origina disfunção cognitiva severa, epilepsia, atraso no desenvolvimento, perda da funcionalidade…”
Get full text