Browsing by Subject Rett syndrome
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| Issue Date | Title | Author(s) |
|---|---|---|
| 3-Oct-2003 | Anàlisi del gen MECP2 a la Síndrome de Rett, correlacions genotip-fenotip | Armstrong i Morón, Judith |
| 22-Jul-2020 | Caracterización clínica y molecular del síndrome de Rett: elucidar los casos no resueltos | Vidal Falcó, Silvia |
| 22-Dec-2023 | Comprehensive analysis of diagnostic approaches and molecular landscape in Rett syndrome spectrum disorders | Xiol Viñas, Clara |
| 14-Jan-2020 | Comprehensive analysis of GABAA-A1R developmental alterations in Rett Syndrome: setting the focus for therapeutic targets in the time frame of the disease | Oyarzabal, Alfonso; Xiol Viñas, Clara; Castells, Aina-Alba; Grau, Cristina; O'Callaghan, Mar; Fernàndez, Guerau; Alcántara Horrillo, Soledad; Pineda Marfà, Mercè; Armstrong i Morón, Judith; Altafaj, Xavier; Garcia-Cazorla, Àngels |
| 24-Feb-2023 | Estudi de les funcions reguladores de les regions transcrites ultraconservades (T-UCRs) sobre l’expressió gènica | Soler Riera, Marta |
| 11-Jan-2023 | Global Impairment of Immediate-Early Genes Expression in Rett Syndrome Models and Patients Linked to Myelination Defects | Petazzi, Paolo; Jorge Torres, Olga Caridad; Gomez, Antonio; Scognamiglio, Iolanda; Serra Musach, Jordi; Merkel, Angelika; Grases, Daniela; Xiol Viñas, Clara; O’Callaghan, Mar; Armstrong i Morón, Judith; Esteller, Manel; Guil, Sonia |
| 26-Sep-2014 | Identification of novel therapeutic targets and evaluation of pharmacological treatments in epigenetic and chromatin diseases- the case of Rett syndrome | Szczesna, Karolina |
| 3-Feb-2021 | Influence of the disordered domain structure of MeCP2 on its structural stability and dsDNA interaction | Ortega Alarcón, David; Clavería Gimeno, Rafael; Vega, Sonia; Jorge-Torres, Olga C.; Esteller, Manel; Abian, Olga; Velázquez-Campoy, Adrián |
| 8-May-2018 | Inhibition of Gsk3b Reduces Nfkb1 Signaling and Rescues Synaptic Activity to Improve the Rett Syndrome Phenotype in Mecp2-Knockout Mice | Jorge Torres, Olga C.; Szczesna, Karolina; Roa, Laura; Casal, Carmen; Gonzalez Somermeyer, Louisa; Soler, Marta; Velasco, Cecilia D.; Martinez San Segundo, Pablo; Petazzi, Paolo; Sáez, Mauricio A.; Delgado Morales, Raul; Fourcade, Stéphane; Pujol Onofre, Aurora; Huertas, Dori; Llobet Berenguer, Artur, 1972-; Guil, Sonia; Esteller, Manel |
| 10-Oct-2019 | MeCP2-E1 isoform is a dynamically expressed, weakly DNA-bound protein with different protein and DNA interactions compared to MeCP2-E2 | Martínez de Paz, Alexia; Khajavi, Leila; Martin, Hélène; Clavería Gimeno, Rafael; Dieck, Susanne Tom; Cheema, Manjinder; Sanchez-Mut, Jose Vicente; Moksa, Malgorzata M.; Carles, Annaick; Brodie, Nick I.; Sheikh, Taimoor I.; Freeman, Melissa E.; Petrotchenko, Evgeniy V.; Borchers, Christoph H.; Schuman, Erin M.; Zytnicki, Matthias; Velazquez-Campoy, Adrian; Abian, Olga; Hirst, Martin; Esteller, Manel; Vincent, John B.; Malnou, Cécile E.; Ausió, Juan |
| 7-Nov-2008 | Mecp2-null Mice Provide New Neuronal Targets for Rett Syndrome | Urdinguio, Rocío G.; Lopez Serra, Lidia; Lopez Nieva, Pilar; Alaminos, Miguel; Diaz Uriarte, Ramon; Fernández, Agustín F.; Esteller, Manel |
| 7-Nov-2008 | Mecp2-null mice provide new neuronal targets for Rett syndrome | Urdinguio, Rocío G.; Lopez Serra, Lidia; López Nieva, Pilar; Alaminos, Miguel; Díaz Uriarte, Ramón; Fernández, Agustín F.; Esteller, Manel |
| 20-Feb-2015 | Methyl-CpG binding protein 2 deregulation: from Rett syndrome to MeCP2 duplication disorder | Petazzi, Paolo |
| 10-Nov-2020 | Molecular Context-Dependent Effects Induced by Rett Syndrome-Associated Mutations in MeCP2 | Ortega Alarcón, David; Clavería Gimeno, Rafael; Vega, Sonia; Jorge Torres, Olga C.; Esteller, Manel; Abian, Olga; Velázquez Campoy, Adrian |
| Apr-2016 | Mutations in JMJD1C are involved in Rett syndrome and intellectual disability | Sáez, Mauricio A.; Fernández Rodríguez, Juana; Moutinho, Cátia; Sanchez-Mut, Jose Vicente; Gómez, Antonio; Vidal, Enrique; Petazzi, Paolo; Szczesna, Karolina; López Serra, Paula; Lucariello, Mario; Lorden, Patricia; Delgado-Morales, Raul; Caridad, Olga J. de la; Huertas, Dori; Gelpí Buchaca, Josep Lluís; Orozco López, Modesto; López Dóriga Guerra, Adriana; Milà i Recasens, Montserrat; Pérez Jurado, Luis; Pineda, Mercedes; Armstrong i Morón, Judith; Lázaro García, Conxi; Esteller, Manel |
| 16-Mar-2017 | New genes and pathways implicated in Rett syndrome: considerations and future applications | Lucariello, Mario |
| Mar-2000 | Síndrome de Rett: Tratamiento odontológico | López Jiménez, Julián; Romero Domínguez, Andrés; Giménez Prats, Mª José |
| 14-Jul-2023 | Study of expression levels in MECP2 related disorders using transcriptomics and proteomics: characterizing Rett syndrome and MECP2 duplication syndrome | Pascual Alonso, Ainhoa |
| 17-Jul-2020 | El transcriptoma no codificante en Síndrome de Rett: nuevas funciones para las regiones transcritas ultraconservadas y circRNAs | Obiols Guardia, Aida |
| 3-Feb-2021 | Unraveling Molecular Pathways Altered in MeCP2-Related Syndromes, in the Search for New Potential Avenues for Therapy | Castells, Aina-Alba; Balada, Rafel; Tristán Noguero, Alba; O’Callaghan, Mar; Cortès i Saladelafont, Elisenda; Pascual Alonso, Ainhoa; Garcia Cazorla, Àngels; Armstrong, Judith; Alcántara Horrillo, Soledad |