Ana Luisa Monteiro de Carvalho
AuthID: R-000-0ZE
1
TITLE: Portuguese Society of Ophthalmology and Portuguese Society of Human Genetics Joint Clinical Practice Guidelines for Genetic Testing in Inherited Retinal Dystrophies Full Text
AUTHORS: Marques, Joao Pedro; Soares, Celia Azevedo ; Carvalho, Ana Luisa; Estrela Silva, Sergio; Santos, Luisa Coutinho; Ramos, Lina; Silva, Eduardo;
PUBLISHED: 2025, SOURCE: CLINICAL GENETICS
AUTHORS: Marques, Joao Pedro; Soares, Celia Azevedo ; Carvalho, Ana Luisa; Estrela Silva, Sergio; Santos, Luisa Coutinho; Ramos, Lina; Silva, Eduardo;
PUBLISHED: 2025, SOURCE: CLINICAL GENETICS
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TITLE: Unraveling the genetic spectrum of inherited deaf-blindness in Portugal Full Text
AUTHORS: Machado, Telma; Cortinhal, Telmo; Carvalho, Ana Luisa; Teixeira Marques, Francisco; Silva, Rufino; Murta, Joaquim; Marques, Joao Pedro;
PUBLISHED: 2025, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 20, ISSUE: 1
AUTHORS: Machado, Telma; Cortinhal, Telmo; Carvalho, Ana Luisa; Teixeira Marques, Francisco; Silva, Rufino; Murta, Joaquim; Marques, Joao Pedro;
PUBLISHED: 2025, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 20, ISSUE: 1
3
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
4
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 Harrison; Mateusz Makuch; Miriam Fichtner; Robert 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 Harrison; Mateusz Makuch; Miriam Fichtner; Robert 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
5
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
6
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: 
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Scopus WOS7
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
8
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
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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
10
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 WOS