Susana Alves Seixas
AuthID: R-000-GTS
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
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
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: WHOLE-GENOME SEQUENCING ANALYSIS TO IDENTIFY CANDIDATE HDGC GENETIC MODIFIERS FOR THE CDH1 C.1901 VARIANT Full Text
AUTHORS: Fonseca, Joao; Barbosa Matos, Rita; Ferreira, Marta; Ferreira, Daniel A. G.; Garrido, Luzia; Seixas, Susana; Xavier, Joana M. ; Maia, Ana Teresa ; Oliveira, Carla;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
AUTHORS: Fonseca, Joao; Barbosa Matos, Rita; Ferreira, Marta; Ferreira, Daniel A. G.; Garrido, Luzia; Seixas, Susana; Xavier, Joana M. ; Maia, Ana Teresa ; Oliveira, Carla;
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: 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
AUTHORS: Encarnacao, Marisa; David, Hugo; Coutinho, Maria Francisca; Moreira, Luciana; Alves, Sandra;
PUBLISHED: 2023, SOURCE: BIOMEDICINES, VOLUME: 11, ISSUE: 10
INDEXED IN: WOS
5
TITLE: Challenges in the Definitive Diagnosis of Niemann–Pick Type C—Leaky Variants and Alternative Transcripts
AUTHORS: Marisa Encarnação; Isaura Ribeiro; Hugo David; Maria Francisca Coutinho; Dulce Quelhas; Sandra Alves;
PUBLISHED: 2023, SOURCE: Genes, VOLUME: 14, ISSUE: 11
AUTHORS: Marisa Encarnação; Isaura Ribeiro; Hugo David; Maria Francisca Coutinho; Dulce Quelhas; Sandra Alves;
PUBLISHED: 2023, SOURCE: Genes, VOLUME: 14, ISSUE: 11
INDEXED IN: Scopus
6
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
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
7
TITLE: A de novo paradigm for male infertility
AUTHORS: Oud M.S.; Smits R.M.; Smith H.E.; Mastrorosa F.K.; Holt G.S.; Houston B.J.; de Vries P.F.; Alobaidi B.K.S.; Batty L.E.; Ismail H.; Greenwood J.; Sheth H.; Mikulasova A.; Astuti G.D.N.; Gilissen C.; McEleny K.; Turner H.; Coxhead J.; Cockell S.; Braat D.D.M.; ...More
PUBLISHED: 2022, SOURCE: Nature Communications, VOLUME: 13, ISSUE: 1
AUTHORS: Oud M.S.; Smits R.M.; Smith H.E.; Mastrorosa F.K.; Holt G.S.; Houston B.J.; de Vries P.F.; Alobaidi B.K.S.; Batty L.E.; Ismail H.; Greenwood J.; Sheth H.; Mikulasova A.; Astuti G.D.N.; Gilissen C.; McEleny K.; Turner H.; Coxhead J.; Cockell S.; Braat D.D.M.; ...More
PUBLISHED: 2022, SOURCE: Nature Communications, VOLUME: 13, ISSUE: 1
8
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
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
9
TITLE: Common Variation in the PIN1 Locus Increases the Genetic Risk to Suffer from Sertoli Cell-Only Syndrome
AUTHORS: Cervan Martin, Miriam; Bossini Castillo, Lara; Guzman Jimenez, Andrea; Rivera Egea, Rocio; Garrido, Nicolas; Lujan, Saturnino; Romeu, Gema; Santos Ribeiro, Samuel; Castilla, Jose A.; Gonzalvo, M. Carmen; Clavero, Ana; Vicente, F. Javier; Maldonado, Vicente; Gonzalez Munoz, Sara; Rodriguez Martin, Inmaculada; Burgos, Miguel; Jimenez, Rafael; Pinto, Maria Graca; Pereira, Isabel; Nunes, Joaquim; ...More
PUBLISHED: 2022, SOURCE: JOURNAL OF PERSONALIZED MEDICINE, VOLUME: 12, ISSUE: 6
AUTHORS: Cervan Martin, Miriam; Bossini Castillo, Lara; Guzman Jimenez, Andrea; Rivera Egea, Rocio; Garrido, Nicolas; Lujan, Saturnino; Romeu, Gema; Santos Ribeiro, Samuel; Castilla, Jose A.; Gonzalvo, M. Carmen; Clavero, Ana; Vicente, F. Javier; Maldonado, Vicente; Gonzalez Munoz, Sara; Rodriguez Martin, Inmaculada; Burgos, Miguel; Jimenez, Rafael; Pinto, Maria Graca; Pereira, Isabel; Nunes, Joaquim; ...More
PUBLISHED: 2022, SOURCE: JOURNAL OF PERSONALIZED MEDICINE, VOLUME: 12, ISSUE: 6
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TITLE: Common genetic variation in KATNAL1 non-coding regions is involved in the susceptibility to severe phenotypes of male infertility Full Text
AUTHORS: Cervan Martin, Miriam; Bossini Castillo, Lara; Guzman Jimenez, Andrea; Rivera Egea, Rocio; Garrido, Nicolas; Lujan, Saturnino; Romeu, Gema; Santos Ribeiro, Samuel; Antonio Castilla, Jose; del Carmen Gonzalvo, Maria; Clavero, Ana; Maldonado, Vicente; Javier Vicente, Francisco; Burgos, Miguel; Jimenez, Rafael; Gonzalez Munoz, Sara; Sanchez Curbelo, Josvany; Lopez Rodrigo, Olga; Pereira Caetano, Iris; Marques, Patricia Isabel; ...More
PUBLISHED: 2022, SOURCE: ANDROLOGY, VOLUME: 10, ISSUE: 7
AUTHORS: Cervan Martin, Miriam; Bossini Castillo, Lara; Guzman Jimenez, Andrea; Rivera Egea, Rocio; Garrido, Nicolas; Lujan, Saturnino; Romeu, Gema; Santos Ribeiro, Samuel; Antonio Castilla, Jose; del Carmen Gonzalvo, Maria; Clavero, Ana; Maldonado, Vicente; Javier Vicente, Francisco; Burgos, Miguel; Jimenez, Rafael; Gonzalez Munoz, Sara; Sanchez Curbelo, Josvany; Lopez Rodrigo, Olga; Pereira Caetano, Iris; Marques, Patricia Isabel; ...More
PUBLISHED: 2022, SOURCE: ANDROLOGY, VOLUME: 10, ISSUE: 7