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
2
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: Exploring the impact of the stargazin V143L mutation on the dynamics of the AMPA receptor: stargazin complex Full Text
AUTHORS: Gouveia, Raquel P.; Barreto, Carlos A. V.; Melo, Rita; Carvalho, Ana Luisa; Moreira, Irina S.;
PUBLISHED: 2025, SOURCE: FRONTIERS IN CELLULAR NEUROSCIENCE, VOLUME: 18
AUTHORS: Gouveia, Raquel P.; Barreto, Carlos A. V.; Melo, Rita; Carvalho, Ana Luisa; Moreira, Irina S.;
PUBLISHED: 2025, SOURCE: FRONTIERS IN CELLULAR NEUROSCIENCE, VOLUME: 18
4
TITLE: Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry
AUTHORS: Marta, Ana; Marques Couto, Pedro; Vaz Pereira, Sara; Costa, Jose; Cabral, Diogo; Estrela Silva, Sergio; Franca, Maria; Marques, Joao Heitor; Meneres, Maria Joao; Lemos, Carolina; Melo Beirao, Joao; Soares, Celia Azevedo; Carvalho, Ana Luisa; Marques, Joao Pedro;
PUBLISHED: 2025, SOURCE: NPJ GENOMIC MEDICINE, VOLUME: 10, ISSUE: 1
AUTHORS: Marta, Ana; Marques Couto, Pedro; Vaz Pereira, Sara; Costa, Jose; Cabral, Diogo; Estrela Silva, Sergio; Franca, Maria; Marques, Joao Heitor; Meneres, Maria Joao; Lemos, Carolina; Melo Beirao, Joao; Soares, Celia Azevedo; Carvalho, Ana Luisa; Marques, Joao Pedro;
PUBLISHED: 2025, SOURCE: NPJ GENOMIC MEDICINE, VOLUME: 10, ISSUE: 1
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: 
Scopus 
WOS
Scopus WOS7
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