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TITLE: Generation of induced pluripotent stem cell lines from two unrelated individuals with familial hypertrophic cardiomyopathy carrying MYBPC3 nonsense mutations
AUTHORS: Ribeiro, Marta; Jager, Joanna; Furtado, Marta; Carvalho, Teresa; Cabral, Joaquim M. S.; Brito, Dulce; Carmo Fonseca, Maria; Martins, Sandra; da Rocha, Simao Teixeira;
PUBLISHED: 2024, SOURCE: STEM CELL RESEARCH, VOLUME: 76
INDEXED IN: Scopus WOS CrossRef: 1
IN MY: ORCID
2
TITLE: Establishment and characterization of induced pluripotent stem cells from an individual with familial hypertrophic cardiomyopathy carrying the MYBPC3 c.772G>A mutation
AUTHORS: Marta Ribeiro; Joanna Jager; Marta Furtado; Teresa Carvalho; Joaquim M.S Cabral; Dulce Brito; Maria Carmo-Fonseca; Sandra Martins; Simão Teixeira da Rocha;
PUBLISHED: 2024
INDEXED IN: CrossRef
IN MY: ORCID
4
TITLE: Pharmacological inhibition of the spliceosome subunit SF3b triggers exon junction complex-independent nonsense-mediated decay
AUTHORS: Carvalho, T; Martins, S; Rino, J; Marinho, S; Carmo Fonseca, M;
PUBLISHED: 2017, SOURCE: Journal of Cell Science, VOLUME: 130, ISSUE: 9
INDEXED IN: Scopus CrossRef: 25
IN MY: ORCID
5
TITLE: Whole gene sequencing identifies deep-intronic variants with potential functional impact in patients with hypertrophic cardiomyopathy
AUTHORS: Rita Mendes de Almeida; Joana Tavares; Sandra Martins; Teresa Carvalho; Francisco J Enguita; Dulce Brito; Maria Carmo-Fonseca; Luís Rocha Lopes;
PUBLISHED: 2017, SOURCE: PLOS ONE, VOLUME: 12, ISSUE: 8
INDEXED IN: CrossRef: 27 Handle
IN MY: ORCID
6
TITLE: Transcription-coupled RNA surveillance in human genetic diseases caused by splice site mutations
AUTHORS: Vaz-Drago, R; Pinheiro, MT; Martins, S; Enguita, FJ; Carmo-Fonseca, M; Custodio, N;
PUBLISHED: 2015, SOURCE: Human Molecular Genetics, VOLUME: 24, ISSUE: 10
INDEXED IN: CrossRef
IN MY: ORCID
7
TITLE: Conceptual analogy for modelling entrapped air action in hydraulic systems
AUTHORS: Sandra C Martins; Helena M Ramos; Antonio B Almeida;
PUBLISHED: 2015, SOURCE: JOURNAL OF HYDRAULIC RESEARCH, VOLUME: 53, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef
9
TITLE: Signalling to the nucleus via A-kinase anchoring proteins.
AUTHORS: Collas, P; Martins, SB; Landsverk, HB;
PUBLISHED: 2004, SOURCE: Symposia of the Society for Experimental Biology, ISSUE: 56
INDEXED IN: Scopus
IN MY: ORCID
10
TITLE: HA95 and LAP2β mediate a novel chromatin-nuclear envelope interaction implicated in initiation of DNA replication
AUTHORS: Martins, S; Eikvar, S; Furukawa, K; Collas, P;
PUBLISHED: 2003, SOURCE: Journal of Cell Biology, VOLUME: 160, ISSUE: 2
INDEXED IN: Scopus CrossRef
IN MY: ORCID
Page 1 of 2. Total results: 13.