Maria Francisca de Lima Magriço Coutinho
AuthID: R-001-P02
1
TITLE: Investigating p.Ala1035Val in NPC1: New Cellular Models for Niemann-Pick Type C Disease Full Text
AUTHORS: David, Hugo; Monfregola, Jlenia; Ribeiro, Isaura; Cardoso, Maria Teresa ; Sandiares, Ana Catarina; Moreira, Luciana; Coutinho, Maria Francisca; Quelhas, Dulce; Ballabio, Andrea; Alves, Sandra; Encarnacao, Marisa;
PUBLISHED: 2024, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 25, ISSUE: 22
AUTHORS: David, Hugo; Monfregola, Jlenia; Ribeiro, Isaura; Cardoso, Maria Teresa ; Sandiares, Ana Catarina; Moreira, Luciana; Coutinho, Maria Francisca; Quelhas, Dulce; Ballabio, Andrea; Alves, Sandra; Encarnacao, Marisa;
PUBLISHED: 2024, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 25, ISSUE: 22
2
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
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
WOS3
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
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
WOS4
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
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
Scopus5
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
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
WOS6
TITLE: Molecular Characterization of a Novel Splicing Mutation Underlying Mucopolysaccharidosis (MPS) Type VI-Indirect Proof of Principle on Its Pathogenicity Full Text
AUTHORS: Coutinho, MF; Encarnacao, M; Matos, L; Silva, L; Ribeiro, D; Santos, JI; Prata, MJ ; Vilarinho, L; Alves, S;
PUBLISHED: 2020, SOURCE: DIAGNOSTICS, VOLUME: 10, ISSUE: 2
AUTHORS: Coutinho, MF; Encarnacao, M; Matos, L; Silva, L; Ribeiro, D; Santos, JI; Prata, MJ ; Vilarinho, L; Alves, S;
PUBLISHED: 2020, SOURCE: DIAGNOSTICS, VOLUME: 10, ISSUE: 2
7
TITLE: Lysosomal Storage Disease-Associated Neuropathy: Targeting Stable Nucleic Acid Lipid Particle (SNALP)-Formulated siRNAs to the Brain as a Therapeutic Approach Full Text
AUTHORS: Coutinho, MF; Santos, JI; Mendonca, LS; Matos, L; Prata, MJ ; Jurado, AS; de Lima, MCP; Alves, S;
PUBLISHED: 2020, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 21, ISSUE: 16
AUTHORS: Coutinho, MF; Santos, JI; Mendonca, LS; Matos, L; Prata, MJ ; Jurado, AS; de Lima, MCP; Alves, S;
PUBLISHED: 2020, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 21, ISSUE: 16
8
TITLE: Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants Full Text
AUTHORS: Encarnacao, M; Coutinho, MF; Silva, L; Ribeiro, D; Ouesleti, S; Campos, T; Santos, H; Martins, E ; Cardoso, MT; Vilarinho, L; Alves, S;
PUBLISHED: 2020, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 21, ISSUE: 17
AUTHORS: Encarnacao, M; Coutinho, MF; Silva, L; Ribeiro, D; Ouesleti, S; Campos, T; Santos, H; Martins, E ; Cardoso, MT; Vilarinho, L; Alves, S;
PUBLISHED: 2020, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 21, ISSUE: 17
INDEXED IN: Scopus WOS
Scopus WOS9
TITLE: Does the clinical phenotype of mucolipidosis-III gamma differ from its alpha beta counterpart?: supporting facts in a cohort of 18 patients
AUTHORS: Sheela Nampoothiri; Nursel H Elcioglu; Suleyman S Koca; Dhanya Yesodharan; Chandrababu, KK; Krishnan V Vinod; Meenakshi Bhat; Nair K Mohandas; Natasha Radhakrishnan; Mahesh Kappanayil; Jayesh J Sheth; Sandra Alves; Francisca Coutinho; Michael J Friez; Richard M Pauli; Sheila Unger; Andrea Superti Furga; Jules G Leroy; Sara S Cathey;
PUBLISHED: 2019, SOURCE: CLINICAL DYSMORPHOLOGY, VOLUME: 28, ISSUE: 1
AUTHORS: Sheela Nampoothiri; Nursel H Elcioglu; Suleyman S Koca; Dhanya Yesodharan; Chandrababu, KK; Krishnan V Vinod; Meenakshi Bhat; Nair K Mohandas; Natasha Radhakrishnan; Mahesh Kappanayil; Jayesh J Sheth; Sandra Alves; Francisca Coutinho; Michael J Friez; Richard M Pauli; Sheila Unger; Andrea Superti Furga; Jules G Leroy; Sara S Cathey;
PUBLISHED: 2019, SOURCE: CLINICAL DYSMORPHOLOGY, VOLUME: 28, ISSUE: 1
INDEXED IN: Scopus WOS
Scopus WOS10
TITLE: RNA Therapeutics: How Far Have We Gone?
AUTHORS: Maria Francisca Coutinho; Liliana Matos; Juliana Ines Santos; Sandra Alves;
PUBLISHED: 2019, SOURCE: MRNA METABOLISM IN HUMAN DISEASE, VOLUME: 1157
AUTHORS: Maria Francisca Coutinho; Liliana Matos; Juliana Ines Santos; Sandra Alves;
PUBLISHED: 2019, SOURCE: MRNA METABOLISM IN HUMAN DISEASE, VOLUME: 1157
INDEXED IN: Scopus WOS
Scopus WOS