Ana Luisa Monteiro de Carvalho
AuthID: R-000-0ZE
1
TITLE: Allosteric Modulation of Pathological Ataxin-3 Aggregation: A Path to Spinocerebellar Ataxia Type-3 Therapies
AUTHORS: Alexandra Silva; Sara Duarte-Silva; Pedro M Martins; Beatriz Rodrigues; Débora Serrenho; Daniela Vilasboas-Campos; Andreia Teixeira-Castro; Julio Vieyto-Nuñez; Joel Mieres-Perez; Francisco Figueiredo; Joana Fraga; James Noble; Carter Lantz; Niki Sepanj; Daniela Monteiro-Fernandes; Sara Guerreiro; Andreia Neves-Carvalho; Joana Pereira-Sousa; Frank-Gerrit Klärner; Thomas Schrader; ...More
PUBLISHED: 2025
AUTHORS: Alexandra Silva; Sara Duarte-Silva; Pedro M Martins; Beatriz Rodrigues; Débora Serrenho; Daniela Vilasboas-Campos; Andreia Teixeira-Castro; Julio Vieyto-Nuñez; Joel Mieres-Perez; Francisco Figueiredo; Joana Fraga; James Noble; Carter Lantz; Niki Sepanj; Daniela Monteiro-Fernandes; Sara Guerreiro; Andreia Neves-Carvalho; Joana Pereira-Sousa; Frank-Gerrit Klärner; Thomas Schrader; ...More
PUBLISHED: 2025
2
TITLE: Permissive central tolerance plus defective peripheral checkpoints license pathogenic memory B cells in CASPR2-antibody encephalitis
AUTHORS: Bo Sun; Dominique Fernandes; John Soltys; Anne-Kathrin Kienzler; Sofija Paneva; Ruby Harrison; Sudarshini Ramanathan; Anna L Harrison; Mateusz Makuch; Miriam L Fichtner; Robert F Donat; Deniz Akdeniz; Halwan Bayuangga; Min Gyu Im; Robyn Williams; Ana Vasconcelos; Selina Thomsen; Andrew Fower; Ruyue Sun; Hannah Fox; ...More
PUBLISHED: 2025, SOURCE: Science Advances, VOLUME: 11, ISSUE: 16
AUTHORS: Bo Sun; Dominique Fernandes; John Soltys; Anne-Kathrin Kienzler; Sofija Paneva; Ruby Harrison; Sudarshini Ramanathan; Anna L Harrison; Mateusz Makuch; Miriam L Fichtner; Robert F Donat; Deniz Akdeniz; Halwan Bayuangga; Min Gyu Im; Robyn Williams; Ana Vasconcelos; Selina Thomsen; Andrew Fower; Ruyue Sun; Hannah Fox; ...More
PUBLISHED: 2025, SOURCE: Science Advances, VOLUME: 11, ISSUE: 16
3
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
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
4
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; ...More
PUBLISHED: 2024, SOURCE: CLINICAL GENETICS
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; ...More
PUBLISHED: 2024, SOURCE: CLINICAL GENETICS
INDEXED IN: 
Scopus 
WOS
Scopus WOS5
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
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
6
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
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
7
TITLE: Expanding the mutational and phenotypical spectrum of FHONDA syndrome
AUTHORS: Teixeira, Bruno Magalhaes; Figueiredo, Ines; Raimundo, Miguel; Quental, Hugo; Carvalho, Ana Luisa; Silva, Rufino; Murta, Joaquim; Marques, Joao Pedro;
PUBLISHED: 2024, SOURCE: EUROPEAN JOURNAL OF OPHTHALMOLOGY
AUTHORS: Teixeira, Bruno Magalhaes; Figueiredo, Ines; Raimundo, Miguel; Quental, Hugo; Carvalho, Ana Luisa; Silva, Rufino; Murta, Joaquim; Marques, Joao Pedro;
PUBLISHED: 2024, SOURCE: EUROPEAN JOURNAL OF OPHTHALMOLOGY
8
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
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
Scopus WOS9
TITLE: Eyes Shut Homolog-Associated Retinal Degeneration Natural History, Genetic Landscape, and Phenotypic Spectrum
AUTHORS: Soares, Ricardo Machado; Carvalho, Ana Luisa; Simao, Silvia; Soares, Celia Azevedo ; Raimundo, Miguel; Alves, C. Henrique; Ambrosio, Antonio Francisco; Murta, Joaquim; Saraiva, Jorge; Silva, Rufino; Marques, Joao Pedro;
PUBLISHED: 2023, SOURCE: OPHTHALMOLOGY RETINA, VOLUME: 7, ISSUE: 7
AUTHORS: Soares, Ricardo Machado; Carvalho, Ana Luisa; Simao, Silvia; Soares, Celia Azevedo ; Raimundo, Miguel; Alves, C. Henrique; Ambrosio, Antonio Francisco; Murta, Joaquim; Saraiva, Jorge; Silva, Rufino; Marques, Joao Pedro;
PUBLISHED: 2023, SOURCE: OPHTHALMOLOGY RETINA, VOLUME: 7, ISSUE: 7
INDEXED IN: Scopus WOS
Scopus WOS10
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
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
WOS