Laura Ferreira Teixeira Vilarinho
AuthID: R-002-GKT
1
TITLE: Novel MTO1 mutations associated with an intrafamilial phenotypic variability Full Text
AUTHORS: Almeida, Catarina Maria; Rodrigues, Esmeralda; Campos, Teresa Almeida; Vilarinho, Laura; Teles, Elisa Leao;
PUBLISHED: 2023, SOURCE: EGYPTIAN JOURNAL OF MEDICAL HUMAN GENETICS, VOLUME: 24, ISSUE: 1
AUTHORS: Almeida, Catarina Maria; Rodrigues, Esmeralda; Campos, Teresa Almeida; Vilarinho, Laura; Teles, Elisa Leao;
PUBLISHED: 2023, SOURCE: EGYPTIAN JOURNAL OF MEDICAL HUMAN GENETICS, VOLUME: 24, ISSUE: 1
INDEXED IN: 
Scopus 
WOS
Scopus WOS2
TITLE: Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement
AUTHORS: Kaiyrzhanov, Rauan; Mohammed, Sami E. M.; Maroofian, Reza; Husain, Ralf A.; Catania, Alessia; Torraco, Alessandra; Alahmad, Ahmad; Dutra Clarke, Marina; Gronborg, Sabine; Sudarsanam, Annapurna; Vogt, Julie; Arrigoni, Filippo; Baptista, Julia; Haider, Shahzad; Feichtinger, Rene G.; Bernardi, Paolo; Zulian, Alessandra; Gusic, Mirjana; Efthymiou, Stephanie; Bai, Renkui; ...More
PUBLISHED: 2022, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 109, ISSUE: 9
AUTHORS: Kaiyrzhanov, Rauan; Mohammed, Sami E. M.; Maroofian, Reza; Husain, Ralf A.; Catania, Alessia; Torraco, Alessandra; Alahmad, Ahmad; Dutra Clarke, Marina; Gronborg, Sabine; Sudarsanam, Annapurna; Vogt, Julie; Arrigoni, Filippo; Baptista, Julia; Haider, Shahzad; Feichtinger, Rene G.; Bernardi, Paolo; Zulian, Alessandra; Gusic, Mirjana; Efthymiou, Stephanie; Bai, Renkui; ...More
PUBLISHED: 2022, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 109, ISSUE: 9
INDEXED IN: Scopus WOS
Scopus WOS3
TITLE: Exercise training counteracts the cardiac metabolic remodelling induced by experimental pulmonary arterial hypertension Full Text
AUTHORS: Morais, Filipe; Nogueira Ferreira, Rita ; Rocha, Hugo; Duarte, Jose A. ; Vilarinho, Laura; Silva, Ana F.; Leite Moreira, Adelino ; Santos, Mario ; Ferreira, Rita; Moreira Goncalves, Daniel;
PUBLISHED: 2022, SOURCE: ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS, VOLUME: 730
AUTHORS: Morais, Filipe; Nogueira Ferreira, Rita ; Rocha, Hugo; Duarte, Jose A. ; Vilarinho, Laura; Silva, Ana F.; Leite Moreira, Adelino ; Santos, Mario ; Ferreira, Rita; Moreira Goncalves, Daniel;
PUBLISHED: 2022, SOURCE: ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS, VOLUME: 730
4
TITLE: Acquired Vitamin B12 Deficiency in Newborns: Positive Impact on Newborn Health through Early Detection Full Text
AUTHORS: Pinto, Patricia Lipari; Florindo, Cristina; Janeiro, Patricia; Santos, Rita Loureiro; Mexia, Sandra; Rocha, Hugo; de Almeida, Isabel Tavares; Vilarinho, Laura; Gaspar, Ana;
PUBLISHED: 2022, SOURCE: NUTRIENTS, VOLUME: 14, ISSUE: 20
AUTHORS: Pinto, Patricia Lipari; Florindo, Cristina; Janeiro, Patricia; Santos, Rita Loureiro; Mexia, Sandra; Rocha, Hugo; de Almeida, Isabel Tavares; Vilarinho, Laura; Gaspar, Ana;
PUBLISHED: 2022, SOURCE: NUTRIENTS, VOLUME: 14, ISSUE: 20
INDEXED IN: Scopus WOS
Scopus WOS5
TITLE: Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010
AUTHORS: Loeber, JG; Platis, D; Zetterstrom, RH; Almashanu, S; Boemer, F; Bonham, JR; Borde, P; Brincat, I; Cheillan, D; Dekkers, E; Dimitrov, D; Fingerhut, R; Franzson, L; Groselj, U; Hougaard, D; Knapkova, M; Kocova, M; Kotori, V; Kozich, V; Kremezna, A; ...More
PUBLISHED: 2021, SOURCE: INTERNATIONAL JOURNAL OF NEONATAL SCREENING, VOLUME: 7, ISSUE: 1
AUTHORS: Loeber, JG; Platis, D; Zetterstrom, RH; Almashanu, S; Boemer, F; Bonham, JR; Borde, P; Brincat, I; Cheillan, D; Dekkers, E; Dimitrov, D; Fingerhut, R; Franzson, L; Groselj, U; Hougaard, D; Knapkova, M; Kocova, M; Kotori, V; Kozich, V; Kremezna, A; ...More
PUBLISHED: 2021, SOURCE: INTERNATIONAL JOURNAL OF NEONATAL SCREENING, VOLUME: 7, ISSUE: 1
INDEXED IN: WOS
WOS6
TITLE: Role of RNA in Molecular Diagnosis of MADD Patients
AUTHORS: Nogueira, C; Silva, L; Marcao, A; Sousa, C; Fonseca, H; Rocha, H; Campos, T; Teles, EL; Rodrigues, E; Janeiro, P; Gaspar, A; Vilarinho, L;
PUBLISHED: 2021, SOURCE: BIOMEDICINES, VOLUME: 9, ISSUE: 5
AUTHORS: Nogueira, C; Silva, L; Marcao, A; Sousa, C; Fonseca, H; Rocha, H; Campos, T; Teles, EL; Rodrigues, E; Janeiro, P; Gaspar, A; Vilarinho, L;
PUBLISHED: 2021, SOURCE: BIOMEDICINES, VOLUME: 9, ISSUE: 5
INDEXED IN: Scopus WOS
Scopus WOS7
TITLE: Molecular basis of Leigh syndrome: a current look Full Text
AUTHORS: Manuela Baldo Schubert; Laura Vilarinho;
PUBLISHED: 2020, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 15, ISSUE: 1
AUTHORS: Manuela Baldo Schubert; Laura Vilarinho;
PUBLISHED: 2020, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 15, ISSUE: 1
INDEXED IN: Scopus WOS
Scopus WOS8
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
9
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 WOS10
TITLE: Clinical, biochemical and molecular findings of 24 Brazilian patients with glutaric acidemia type 1: 4 novel mutations in the GCDH gene Full Text
AUTHORS: Angela Sitta; Gilian Guerreiro; Daniella de Moura Coelho; Vitoria Volfart da Rocha; Bianca Gomes dos Reis; Carmen Sousa; Laura Vilarinho; Moacir Wajner; Carmen Regla Vargas;
PUBLISHED: 2020, SOURCE: METABOLIC BRAIN DISEASE
AUTHORS: Angela Sitta; Gilian Guerreiro; Daniella de Moura Coelho; Vitoria Volfart da Rocha; Bianca Gomes dos Reis; Carmen Sousa; Laura Vilarinho; Moacir Wajner; Carmen Regla Vargas;
PUBLISHED: 2020, SOURCE: METABOLIC BRAIN DISEASE
INDEXED IN: Scopus WOS
Scopus WOS