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TITLE: Neuronal ARHGAP8 controls synapse structure and AMPA receptor-mediated synaptic transmission
AUTHORS: Jeannette Schmidt; Ângela Inácio; Joana S Ferreira; Débora Serrenho; Renato Socodato; Nuno Beltrão; Luís F Ribeiro; Paulo Pinheiro; João B Relvas; Ana Luisa Carvalho;
PUBLISHED: 2024
INDEXED IN: CrossRef
IN MY: ORCID
2
TITLE: Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants  Full Text
AUTHORS: Bauwens, Miriam; De Man, Vincent; Audo, Isabelle; Balikova, Irina; Zein, Wadih M.; Smirnov, Vasily; Held, Sebastian; Vermeer, Sascha; Loos, Elke; Jacob, Julie; Casteels, Ingele; Desir, Julie; Depasse, Fanny; Van de Sompele, Stijn; Van Heetvelde, Mattias; De Bruyne, Marieke; Andrieu, Camille; Condroyer, Christel; Antonio, Aline; Hufnagel, Robert; Carvalho, Ana Luisa; Marques, Joao Pedro; Zeitz, Christina; De Baere, Elfride; Damme, Markus; ...More
PUBLISHED: 2024, SOURCE: CLINICAL GENETICS
INDEXED IN: Scopus WOS
3
TITLE: MiR-186-5p inhibition restores synaptic transmission and neuronal network activity in a model of chronic stress  Full Text
AUTHORS: Rodrigues, Beatriz; Leitao, Ricardo A.; Santos, Monica; Trofimov, Alexander; Silva, Mariline; Inacio, angela S.; Abreu, Monica; Nobre, Rui J.; Costa, Jessica; Cardoso, Ana Luisa; Milosevic, Ira; Peca, Joao; Oliveiros, Barbara; Pereira de Almeida, Luis; Pinheiro, Paulo S.; Carvalho, Ana Luisa;
PUBLISHED: 2024, SOURCE: MOLECULAR PSYCHIATRY
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
4
TITLE: Type I TARPs regulate Kv7.2 potassium channels and susceptibility to seizures
AUTHORS: Marina V Rodrigues; Ângela S Inácio; Maria Virginia Soldovieri; Sara Ribau; Telmo M Leal; Theo Baurberg; Ilaria Mosca; Paolo Ambrosino; Luísa Amado; Nuno Beltrão; Gladys L Caldeira; Luís F Ribeiro; Ka Wan Li; Laurent Groc; Joana S Ferreira; Maurizio Taglialatela; Ana Luisa Carvalho;
PUBLISHED: 2024
INDEXED IN: CrossRef
IN MY: ORCID
5
TITLE: Bilateral functional worsening following voretigene neparvovec therapy  Full Text
AUTHORS: Neves, Emmanuel Rebelo; Carvalho, Ana Luisa; Mesquita, Teresa; Paiva, Catarina; Alfaiate, Mario; Figueira, Joao; Murta, Joaquim; Marques, Joao Pedro;
PUBLISHED: 2023, SOURCE: EYE
INDEXED IN: Scopus WOS
7
TITLE: GENETIC AND CLINICAL CHARACTERIZATION OF PATIENTS WITH CYP1B1 GENE BIALLELIC VARIANTS  Full Text
AUTHORS: Lima Caldeira, Gladys Tarcila; Carvalho, Ana Luisa; Egas, Conceicao; Sobral, Isa; Saraiva, Jorge M.;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
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TITLE: From Temporal Cell Arteritis to Giant Cell Aortitis Presenting as a Constitutional Syndrome: A Case Report
AUTHORS: Lopes, Marta; Rocha, Marta; Fonseca, Marta; Monteiro, Ana;
PUBLISHED: 2023, SOURCE: CUREUS JOURNAL OF MEDICAL SCIENCE, VOLUME: 15, ISSUE: 1
INDEXED IN: WOS
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TITLE: IL-4 shapes microglia-dependent pruning of the cerebellum during postnatal development
AUTHORS: Guedes, Joana R.; Ferreira, Pedro A.; Costa, Jessica; Laranjo, Mariana; Pinto, Maria J.; Reis, Tiago; Cardoso, Ana Maria; Lebre, Carolina; Casquinha, Maria; Gomes, Marcos; Shkatova, Viktoriya; Pereira, Marta; Beltrao, Nuno; Hanuscheck, Nicholas; Greenhalgh, Andrew D.; Vogelaar, Christina Francisca; Carvalho, Ana Luisa; Zipp, Frauke; Cardoso, Ana Luisa; Peca, Joao;
PUBLISHED: 2023, SOURCE: NEURON, VOLUME: 111, ISSUE: 21
INDEXED IN: Scopus WOS CrossRef: 4
IN MY: ORCID
10
TITLE: EYS-ASSOCIATED RETINAL DEGENERATION: NATURAL HISTORY, GENETIC LANDSCAPE AND PHENOTYPIC SPECTRUM
AUTHORS: Soares, Ricardo; Carvalho, Ana; Simao, Silvia; Soares, Celia ; Raimundo, Miguel; Alves, Henrique; Ambrosio, Antonio; Murta, Joaquim; Saraiva, Jorge; Silva, Rufino; Marques, Joao;
PUBLISHED: 2023, SOURCE: Annual Meeting of the Association-for-Research-in-Vision-and-Ophthalmology (ARVO) in INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, VOLUME: 64, ISSUE: 8
INDEXED IN: WOS
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