Maria Francisca de Lima Magriço Coutinho
AuthID: R-001-P02
11
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
12
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
13
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 WOS14
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 WOS15
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 WOS16
TITLE: I Cell Disease (Mucolipidosis II Alpha/Beta): From Screening to Molecular Diagnosis Full Text
AUTHORS: Ankur Singh; Rajniti Prasad; Aditya Kumar Gupta; Anil Sharma; Sandra Alves; Maria Francisca Coutinho; Seema Kapoor; Om Prakash Mishra;
PUBLISHED: 2017, SOURCE: INDIAN JOURNAL OF PEDIATRICS, VOLUME: 84, ISSUE: 2
AUTHORS: Ankur Singh; Rajniti Prasad; Aditya Kumar Gupta; Anil Sharma; Sandra Alves; Maria Francisca Coutinho; Seema Kapoor; Om Prakash Mishra;
PUBLISHED: 2017, SOURCE: INDIAN JOURNAL OF PEDIATRICS, VOLUME: 84, ISSUE: 2
INDEXED IN: Scopus WOS
Scopus WOS17
TITLE: Update of the spectrum of mucopolysaccharidoses type III in Tunisia: identification of three novel mutations and in silico structural analysis of the missense mutations Full Text
AUTHORS: Souad Ouesleti; Maria Francisca Coutinho; Isaura Ribeiro; Abdehedi Miled; Dalila Saidane Mosbahi; Sandra Alves;
PUBLISHED: 2017, SOURCE: WORLD JOURNAL OF PEDIATRICS, VOLUME: 13, ISSUE: 4
AUTHORS: Souad Ouesleti; Maria Francisca Coutinho; Isaura Ribeiro; Abdehedi Miled; Dalila Saidane Mosbahi; Sandra Alves;
PUBLISHED: 2017, SOURCE: WORLD JOURNAL OF PEDIATRICS, VOLUME: 13, ISSUE: 4
INDEXED IN: Scopus WOS
Scopus WOS18
TITLE: Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders (vol 17, 1065, 2016) Full Text
AUTHORS: Maria Francisca Coutinho; Juliana Ines Santos; Sandra Alves;
PUBLISHED: 2017, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 18, ISSUE: 1
AUTHORS: Maria Francisca Coutinho; Juliana Ines Santos; Sandra Alves;
PUBLISHED: 2017, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 18, ISSUE: 1
INDEXED IN: WOS
WOS19
TITLE: Erratum: Coutinho et al. Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders. Int. J. Mol. Sci. 2016, 17, 1065 (International journal of molecular sciences (2016) 17 7 PII: E178)
AUTHORS: Coutinho, MF; Santos, JI; Alves, S;
PUBLISHED: 2017, SOURCE: International journal of molecular sciences, VOLUME: 18, ISSUE: 1
AUTHORS: Coutinho, MF; Santos, JI; Alves, S;
PUBLISHED: 2017, SOURCE: International journal of molecular sciences, VOLUME: 18, ISSUE: 1
INDEXED IN: Scopus
Scopus20
TITLE: From rare to common and back again: 60 years of lysosomal dysfunction Full Text
AUTHORS: Maria Francisca Coutinho; Sandra Alves;
PUBLISHED: 2016, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 117, ISSUE: 2
AUTHORS: Maria Francisca Coutinho; Sandra Alves;
PUBLISHED: 2016, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 117, ISSUE: 2
