1
TITLE: Neurological Disease Modeling Using Pluripotent and Multipotent Stem Cells: A Key Step towards Understanding and Treating Mucopolysaccharidoses
AUTHORS: Carvalho, Sofia; Santos, Juliana Ines; Moreira, Luciana; Goncalves, Mariana; David, Hugo; Matos, Liliana; Encarnacao, Marisa; Alves, Sandra; Coutinho, Maria Francisca;
PUBLISHED: 2023, SOURCE: BIOMEDICINES, VOLUME: 11, ISSUE: 4
INDEXED IN: Scopus WOS
2
TITLE: Leukocyte Imbalances in Mucopolysaccharidoses Patients
AUTHORS: Lopes, Nuno; Maia, Maria L.; Pereira, Catia S.; Mondragao Rodrigues, Ines; Martins, Esmeralda; Ribeiro, Rosa; Gaspar, Ana; Aguiar, Patricio; Garcia, Paula; Cardoso, Maria Teresa; Rodrigues, Esmeralda; Leao Teles, Elisa; Giugliani, Roberto; Coutinho, Maria F. F.; Alves, Sandra; Macedo, M. Fatima;
PUBLISHED: 2023, SOURCE: BIOMEDICINES, VOLUME: 11, ISSUE: 6
INDEXED IN: Scopus WOS
3
TITLE: WHEN FOLKLORE MEETS SCIENCE: THE 21ST CENTURY BABY TEETH COLLECTOR THAT IS HELPING US SHED LIGHT OVER RARE GENETIC DISORDERS  Full Text
AUTHORS: Carvalho, Sofia; Santos, Juliana Ines; Moreira, Luciana; Gaspar, Paulo; Goncalves, Mariana; Matos, Liliana; Encarnacao, Marisa; Ribeiro, Diogo; Duarte, Ana Joana; Prata, Maria Joao ; Coutinho, Maria Francisca; Alves, Sandra;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
4
TITLE: GENERATION OF MICE EXPRESSING IN THE LIVER HUMAN SPLICING MUTATIONS: A GOOD MODEL TO TEST IN VIVO THE THERAPEUTIC EFFICACY OF MODIFIED U1 SNRNAS FOR MUCOPOLYSACCHARIDOSIS TYPE IIIC  Full Text
AUTHORS: Goncalves, Mariana; Matos, Liliana; Santos, Juliana I.; Coutinho, Maria Francisca; Prata, Maria Joao ; Pires, Maria Joao; Oliveira, Paula; Alves, Sandra;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
5
TITLE: Development of Engineered-U1 snRNA Therapies: Current Status  Full Text
AUTHORS: Mariana Gonçalves; Juliana Inês Santos; Maria Francisca Coutinho; Liliana Matos; Sandra Alves;
PUBLISHED: 2023, SOURCE: International Journal of Molecular Sciences, VOLUME: 24, ISSUE: 19
INDEXED IN: Scopus
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TITLE: MicroRNA Profile, Putative Diagnostic Biomarkers and RNA-Based Therapies in the Inherited Lipid Storage Disease Niemann-Pick Type C
AUTHORS: Encarnacao, Marisa; David, Hugo; Coutinho, Maria Francisca; Moreira, Luciana; Alves, Sandra;
PUBLISHED: 2023, SOURCE: BIOMEDICINES, VOLUME: 11, ISSUE: 10
INDEXED IN: WOS
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TITLE: CREDIBILITY OF SOCIAL MEDIA INFLUENCERS: IMPACT ON PURCHASE INTENTION
AUTHORS: Maria Francisca Coutinho; Álvaro Dias; Leandro Pereira;
PUBLISHED: 2023, SOURCE: Human Technology, VOLUME: 19, ISSUE: 2
INDEXED IN: Scopus
8
TITLE: Challenges in the Definitive Diagnosis of Niemann-Pick Type C-Leaky Variants and Alternative Transcripts  Full Text
AUTHORS: Encarnacao, Marisa; Ribeiro, Isaura; David, Hugo; Coutinho, Maria Francisca; Quelhas, Dulce ; Alves, Sandra;
PUBLISHED: 2023, SOURCE: GENES, VOLUME: 14, ISSUE: 11
INDEXED IN: WOS
9
TITLE: Splicing Modulation as a Promising Therapeutic Strategy for Lysosomal Storage Disorders: The Mucopolysaccharidoses Example  Full Text
AUTHORS: Santos, Juliana Ines; Goncalves, Mariana; Matos, Liliana; Moreira, Luciana; Carvalho, Sofia; Prata, Maria Joao ; Coutinho, Maria Francisca; Alves, Sandra;
PUBLISHED: 2022, SOURCE: LIFE-BASEL, VOLUME: 12, ISSUE: 5
INDEXED IN: Scopus WOS
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TITLE: THE 2020S TOOTH FAIRY: FROM LOOSE TOOTH TO NEURONAL CELL CULTURES, AN INNOVATIVE METHOD TO MODEL NEUROLOGIC LYSOSOMAL STORAGE DISEASES IN VITRO  Full Text
AUTHORS: Coutinho, M. F.; Santos, J., I; Carvalho, S.; Ribeiro, D.; Gaspar, P.; Matos, L.; Duarte, A. J.; Teles, E. L.; Martins, E.; Matos, P. G.; Janeiro, P.; Marques, R.; Silva, A.; Prata, M. J.;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
INDEXED IN: WOS
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