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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
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TITLE: Generation of induced pluripotent stem cell lines from two unrelated individuals with familial hypertrophic cardiomyopathy carrying the<i> MYBPC3</i> missense c.1484G>A mutation
AUTHORS: Ribeiro, Marta; Martins, Sandra ; Carvalho, Teresa ; Furtado, Marta; Cabral, Joaquim Sampaio; Brito, Dulce; Carmo Fonseca, Maria ; da Rocha, Simao Teixeira;
PUBLISHED: 2024, SOURCE: STEM CELL RESEARCH, VOLUME: 74
INDEXED IN: Scopus WOS CrossRef: 1
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TITLE: Generation of induced pluripotent stem cells from an individual with early onset and severe hypertrophic cardiomyopathy linked to MYBPC3: c.772G > A mutation  Full Text
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: HUMAN CELL, VOLUME: 37, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef
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TITLE: Principles of novel cellular and molecular cardiovascular therapeutics
AUTHORS: Marta Furtado; Marta Ribeiro; Sandra Martins ; Teresa Carvalho ; Carmo Fonseca, M ;
PUBLISHED: 2024, SOURCE: Genomic and Molecular Cardiovascular Medicine: a Volume in Genomic and Precision Medicine in Clinical Practice
INDEXED IN: Scopus CrossRef
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TITLE: RNA Splicing Defects in Hypertrophic Cardiomyopathy: Implications for Diagnosis and Therapy
AUTHORS: Ribeiro, M; Furtado, M; Martins, S; Carvalho, T ; Carmo Fonseca, M ;
PUBLISHED: 2020, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 21, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 16
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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
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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
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TITLE: Spliceosome assembly is coupled to RNA polymerase II dynamics at the 3 ' end of human genes  Full Text
AUTHORS: Sandra Bento Martins ; Jose Rino ; Teresa Carvalho ; Celia Carvalho; Minoru Yoshida; Jasmim Mona Klose; Sergio Fernandes de Almeida ; Maria Carmo Fonseca ;
PUBLISHED: 2011, SOURCE: NATURE STRUCTURAL & MOLECULAR BIOLOGY, VOLUME: 18, ISSUE: 10
INDEXED IN: Scopus WOS CrossRef
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TITLE: A stochastic view of spliceosome assembly and recycling in the nucleus  Full Text
AUTHORS: Jose Rino ; Teresa Carvalho ; Jose Braga; Joana M P Desterro ; Reinhard Luehrmann; Maria Carmo Fonseca ;
PUBLISHED: 2007, SOURCE: PLOS COMPUTATIONAL BIOLOGY, VOLUME: 3, ISSUE: 10
INDEXED IN: Scopus WOS CrossRef
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