Unit for Multidisciplinary Research in Biomedicine (UMIB)
Unidade Multidisciplinar de Investigação Biomédica
Laboratory for Integrative and Translational Research in Population Health (ITR)
AuthID: I-000-1CZ
Publications Actions
Publications at Authenticus Institutional Profile
An Authenticus institution (group) is an organization which consists of a set of researchers (institutional/group team). The set of researchers depends on the organizational structure of the institution per year and can be set at the institution profile, under ‘Researchers’ interface. Based on the institutional team we produce listings of publications, statistics and institutional reports.
Publications displayed at an Authenticus institutional profile depend on two parameters:
- Researchers team associated with the institution per year.
- Publications source type.
We define 3 types of publication sources:
- Validated by team members - includes all publications validated by team members. Requires the definition of the institutional team.
- All published by team members - includes all publications validated by the institution team members plus all not-validated (only identified) publications. Requires the definition of the institutional team.
- Affiliation Based - includes publications that have the institution/group in the publication affiliation. Does not require institutional team, but at the same time does not guarantee that all publications will be listed.
External
Internal
No data about last update.
Rules:
This actions updates publications citations of every team member.
Only validated by team members publications are included.
Only the current year team is included in this action.>
The action is executed in the background, thus the results are NOT immediate.
This actions can be executed only once a month!
Only validated by team members publications are included.
Only the current year team is included in this action.>
The action is executed in the background, thus the results are NOT immediate.
This actions can be executed only once a month!
No data about last update.
Rules:
This actions updates all pre print publications of the group/institution.
Only validated by current year team members publications are included.
The action is executed in the background, thus the results are NOT immediate.
This actions can be executed only once a day!
Only validated by current year team members publications are included.
The action is executed in the background, thus the results are NOT immediate.
This actions can be executed only once a day!
Publications Count: 2823
186 Team MembersFilters -> Year: 2026
1
TITLE: Allele-specific expression of
ATXN3
in blood samples of Machado-Joseph disease expansion carriers
AUTHORS: Ana Rosa Vieira Melo; Sandra Martins; Sara Pavão; Luís Teves; Ana F Ferreira; Ahmed M Sidky; Jorge Sequeiros; Darren G Monckton; Manuela Lima ; Mafalda Raposo;
PUBLISHED: 2026
AUTHORS: Ana Rosa Vieira Melo; Sandra Martins; Sara Pavão; Luís Teves; Ana F Ferreira; Ahmed M Sidky; Jorge Sequeiros; Darren G Monckton; Manuela Lima ; Mafalda Raposo;
PUBLISHED: 2026
INDEXED IN: 
CrossRef
CrossRef2
TITLE: Cognitive impairment in SCA3: A multi-center cohort study with demographic, imaging, and biomarker correlates Full Text
AUTHORS: Maas, Roderick P. P. W. M.; Garcia Moreno, Hector; Faber, Jennifer; Gonzalez, Carlos; Schols, Ludger; de Vries, Jeroen J.; Bushara, Khalaf; Reetz, Kathrin; Onyike, Chiadi U.; Jacobi, Heike; Erdlenbruch, Friedrich; Infante, Jon; Santana, Magda M.; Hubener Schmid, Jeannette; de Almeida, Luis Pereira; Lima, Manuela ; Giunti, Paola; Klockgether, Thomas; Van De Warrenburg, Bart P. C.;
PUBLISHED: 2026, SOURCE: NEUROBIOLOGY OF DISEASE, VOLUME: 220, PAGES: 107301-
AUTHORS: Maas, Roderick P. P. W. M.; Garcia Moreno, Hector; Faber, Jennifer; Gonzalez, Carlos; Schols, Ludger; de Vries, Jeroen J.; Bushara, Khalaf; Reetz, Kathrin; Onyike, Chiadi U.; Jacobi, Heike; Erdlenbruch, Friedrich; Infante, Jon; Santana, Magda M.; Hubener Schmid, Jeannette; de Almeida, Luis Pereira; Lima, Manuela ; Giunti, Paola; Klockgether, Thomas; Van De Warrenburg, Bart P. C.;
PUBLISHED: 2026, SOURCE: NEUROBIOLOGY OF DISEASE, VOLUME: 220, PAGES: 107301-
3
TITLE: Expanding the phenotypic spectrum of MECOM-associated syndrome: rare variants are associated with syndromic pulmonary arterial hypertension
AUTHORS: Welch, Carrie L.; Mcentagart, Meriel; Moledina, Shahin; Morgan, Cara; Swietlik, Emilia; Hou, Chao; Qiao, Lu; Callejo, Emily; Craib, Savanna; Smedley, Damian; Bijlsma, Emilia K.; Bouvagnet, Patrice; Cortes Santiago, Nahir; Dagan, Tamir; Eason, Jacqueline; Flinter, Frances; Joshi, Aakash; Mortreux, Jeremie; Ruiz, Fadel E.; Shears, Deborah; ...More
PUBLISHED: 2026, SOURCE: JOURNAL OF MEDICAL GENETICS
AUTHORS: Welch, Carrie L.; Mcentagart, Meriel; Moledina, Shahin; Morgan, Cara; Swietlik, Emilia; Hou, Chao; Qiao, Lu; Callejo, Emily; Craib, Savanna; Smedley, Damian; Bijlsma, Emilia K.; Bouvagnet, Patrice; Cortes Santiago, Nahir; Dagan, Tamir; Eason, Jacqueline; Flinter, Frances; Joshi, Aakash; Mortreux, Jeremie; Ruiz, Fadel E.; Shears, Deborah; ...More
PUBLISHED: 2026, SOURCE: JOURNAL OF MEDICAL GENETICS
4
TITLE: Follicular fluid from women with polycystic ovary syndrome induces granulosa cells metabolic dysfunction that is exacerbated by obesity Full Text
AUTHORS: Moreira, Mafalda V.; Guerra Carvalho, Barbara; Carrageta, David F.; Sousa, Daniela; Brandao, Raquel; Leal, Carla; Vale Fernandes, Emidio ; Ptak, Anna; Pignatelli, Duarte; Bernardino, Raquel L.; Monteiro, Mariana P.;
PUBLISHED: 2026, SOURCE: FRONTIERS IN ENDOCRINOLOGY, VOLUME: 17
AUTHORS: Moreira, Mafalda V.; Guerra Carvalho, Barbara; Carrageta, David F.; Sousa, Daniela; Brandao, Raquel; Leal, Carla; Vale Fernandes, Emidio ; Ptak, Anna; Pignatelli, Duarte; Bernardino, Raquel L.; Monteiro, Mariana P.;
PUBLISHED: 2026, SOURCE: FRONTIERS IN ENDOCRINOLOGY, VOLUME: 17
5
TITLE: Mental Health and Well-Being Using Technologies in Healthcare Activities: A Systematic Literature Review
AUTHORS: Sofia Pinheiro; Ana Luísa Sousa Pinto; Ivone Fernandes Santos da Silva ; Joana Carvalho Dos Santos;
PUBLISHED: 2026, SOURCE: Studies in Systems, Decision and Control, VOLUME: 231, PAGES: 315-329
AUTHORS: Sofia Pinheiro; Ana Luísa Sousa Pinto; Ivone Fernandes Santos da Silva ; Joana Carvalho Dos Santos;
PUBLISHED: 2026, SOURCE: Studies in Systems, Decision and Control, VOLUME: 231, PAGES: 315-329
INDEXED IN: 
Scopus CrossRef
Scopus CrossRef6
TITLE: Novel variant in WDFY3 in a girl with autism spectrum disorder, macrocephaly and no regression Full Text
AUTHORS: Tavares, Teresa; Carrilho, Ines; Azevedo Soares, Celia ;
PUBLISHED: 2026, SOURCE: EGYPTIAN JOURNAL OF MEDICAL HUMAN GENETICS, VOLUME: 27, ISSUE: 1
AUTHORS: Tavares, Teresa; Carrilho, Ines; Azevedo Soares, Celia ;
PUBLISHED: 2026, SOURCE: EGYPTIAN JOURNAL OF MEDICAL HUMAN GENETICS, VOLUME: 27, ISSUE: 1
7
TITLE: Remote Assessment of Ataxia Severity in SCA3 Across Multiple Centers and Time Points
AUTHORS: Grobe einsler, Marcus; Maas, Vivian; Amin, Arian Taheri; Faber, Jennifer; Schaprian, Tamara; Hill, Katharina; Synofzik, Matthis; Graf, Lisa H.; Jacobi, Heike; Lima, Manuela ; Ferreira, Ana F.; van de Warrenburg, Bart P.; Willemse, Ilse H. J.; Timmann, Dagmar; Thieme, Andreas; Giunti, Paola; Garcia Moreno, Hector; Santana, Magda M.; Huebener Schmid, Jeannette; Davies, Elin H.; ...More
PUBLISHED: 2026, SOURCE: ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
AUTHORS: Grobe einsler, Marcus; Maas, Vivian; Amin, Arian Taheri; Faber, Jennifer; Schaprian, Tamara; Hill, Katharina; Synofzik, Matthis; Graf, Lisa H.; Jacobi, Heike; Lima, Manuela ; Ferreira, Ana F.; van de Warrenburg, Bart P.; Willemse, Ilse H. J.; Timmann, Dagmar; Thieme, Andreas; Giunti, Paola; Garcia Moreno, Hector; Santana, Magda M.; Huebener Schmid, Jeannette; Davies, Elin H.; ...More
PUBLISHED: 2026, SOURCE: ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
8
TITLE: Voltage-Gated Sodium Channel NaV1.2: Structural Perspective of the Genetic Variability Full Text
AUTHORS: Oliveira Madureira, Tomas; Leal, Barbara ; Azevedo, Luisa;
PUBLISHED: 2026, SOURCE: BIOCHEMICAL GENETICS
AUTHORS: Oliveira Madureira, Tomas; Leal, Barbara ; Azevedo, Luisa;
PUBLISHED: 2026, SOURCE: BIOCHEMICAL GENETICS
9
TITLE: <i>FMR1</i> Allelic Complexity and IVF Fertilization Success: Limitations and Future Perspectives Full Text
AUTHORS: Rodrigues, Barbara; Vale Fernandes, Emidio ; Sousa, Vanessa; Marques, Isabel; Santos, Rosario; Nogueira, Antonio J. A.; Jorge, Paula;
PUBLISHED: 2025, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 26, ISSUE: 12, PAGES: 5752
AUTHORS: Rodrigues, Barbara; Vale Fernandes, Emidio ; Sousa, Vanessa; Marques, Isabel; Santos, Rosario; Nogueira, Antonio J. A.; Jorge, Paula;
PUBLISHED: 2025, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 26, ISSUE: 12, PAGES: 5752
10
TITLE: A 30-year experience in neuro-Behçet disease Full Text
AUTHORS: Silva, Lenia; Silva, Isabel Fonseca; Fonseca, Tomas; Pinto, Luisa Serpa; Leal, Barbara ; Pinho e Costa, Paulo ; Igreja, Liliana; Moreira, Bruno; Santos, Ernestina; Vasconcelos, Carlos; Marinho, Antonio; Correia, Joao Araujo;
PUBLISHED: 2025, SOURCE: JOURNAL OF NEUROIMMUNOLOGY, VOLUME: 406, PAGES: 578647
AUTHORS: Silva, Lenia; Silva, Isabel Fonseca; Fonseca, Tomas; Pinto, Luisa Serpa; Leal, Barbara ; Pinho e Costa, Paulo ; Igreja, Liliana; Moreira, Bruno; Santos, Ernestina; Vasconcelos, Carlos; Marinho, Antonio; Correia, Joao Araujo;
PUBLISHED: 2025, SOURCE: JOURNAL OF NEUROIMMUNOLOGY, VOLUME: 406, PAGES: 578647
11
TITLE: A Novel Large Duplication on the X Chromosome as a Cause of Familial Generalized Dystonia: A Case Report Full Text
AUTHORS: Costa, Antonio; Pereira, Diogo; Malaquias, Maria Joao; Brandao, Ana Filipa; Oliveira, Jorge ; Magalhaes, Marina;
PUBLISHED: 2025, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 26, ISSUE: 2, PAGES: 809
AUTHORS: Costa, Antonio; Pereira, Diogo; Malaquias, Maria Joao; Brandao, Ana Filipa; Oliveira, Jorge ; Magalhaes, Marina;
PUBLISHED: 2025, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 26, ISSUE: 2, PAGES: 809
12
TITLE: Adherence, acceptability, and usability of a smartphone app to promote physical exercise in patients with peripheral arterial disease and intermittent claudication Full Text
AUTHORS: Oliveira, Rafaela; Pedras, Susana; Veiga, Carlos; Moreira, Luis; Santarem, Daniel; Guedes, Daniel; Paredes, Hugo ; Silva, Ivone ;
PUBLISHED: 2025, SOURCE: INFORMATICS FOR HEALTH & SOCIAL CARE, VOLUME: 50, ISSUE: 2, PAGES: 49-62
AUTHORS: Oliveira, Rafaela; Pedras, Susana; Veiga, Carlos; Moreira, Luis; Santarem, Daniel; Guedes, Daniel; Paredes, Hugo ; Silva, Ivone ;
PUBLISHED: 2025, SOURCE: INFORMATICS FOR HEALTH & SOCIAL CARE, VOLUME: 50, ISSUE: 2, PAGES: 49-62
13
TITLE: Article Title: Impact of Dysphagia on Quality of Life in Machado-Joseph Disease Full Text
AUTHORS: Mota, Joana Paz; Rodrigues, Ines Tello; Ferreira, Ana Filipa; Melo, Ana Rosa Vieira; Pires, Paula; Lopes, Pedro; Vasconcelos, Joao; Raposo, Mafalda; Lima, Manuela ;
PUBLISHED: 2025, SOURCE: CEREBELLUM, VOLUME: 24, ISSUE: 6
AUTHORS: Mota, Joana Paz; Rodrigues, Ines Tello; Ferreira, Ana Filipa; Melo, Ana Rosa Vieira; Pires, Paula; Lopes, Pedro; Vasconcelos, Joao; Raposo, Mafalda; Lima, Manuela ;
PUBLISHED: 2025, SOURCE: CEREBELLUM, VOLUME: 24, ISSUE: 6
INDEXED IN: 
WOS CrossRef
WOS CrossRef14
TITLE: Bleomycin in vitro exposure decreases markers of human male gamete competence
AUTHORS: de Almeida, Ana Lobo; Goncalves, Ana; Barros, Alberto ; Sousa, Mario ; Sa, Rosalia;
PUBLISHED: 2025, SOURCE: F&S SCIENCE, VOLUME: 6, ISSUE: 1, PAGES: 5-15
AUTHORS: de Almeida, Ana Lobo; Goncalves, Ana; Barros, Alberto ; Sousa, Mario ; Sa, Rosalia;
PUBLISHED: 2025, SOURCE: F&S SCIENCE, VOLUME: 6, ISSUE: 1, PAGES: 5-15
15
TITLE: Blood DDIT4 and TRIM13 Transcript Levels Mark the Early Stages of Machado-Joseph Disease Full Text
AUTHORS: Ferreira, Ana F.; Raposo, Mafalda; Shaw, Emily D.; Liu, Louisa; Vasconcelos, Joao; Kay, Teresa; Bettencourt, Conceicao; Saraiva Pereira, Maria Luiza; Jardim, Laura Bannach; Costa, Maria do Carmo; Lima, Manuela ;
PUBLISHED: 2025, SOURCE: ANNALS OF NEUROLOGY
AUTHORS: Ferreira, Ana F.; Raposo, Mafalda; Shaw, Emily D.; Liu, Louisa; Vasconcelos, Joao; Kay, Teresa; Bettencourt, Conceicao; Saraiva Pereira, Maria Luiza; Jardim, Laura Bannach; Costa, Maria do Carmo; Lima, Manuela ;
PUBLISHED: 2025, SOURCE: ANNALS OF NEUROLOGY
16
TITLE: Blood DDIT4 and TRIM13 Transcript Levels Mark the Early Stages of Machado–Joseph Disease Full Text
AUTHORS: Ana F Ferreira; Mafalda Raposo; Emily D Shaw; Louisa Liu; João Vasconcelos; Teresa Kay; Conceição Bettencourt; Maria Luiza Saraiva‐Pereira; Laura Bannach Jardim; Maria do Carmo Costa; Manuela Lima ;
PUBLISHED: 2025, SOURCE: Annals of Neurology, VOLUME: 98, ISSUE: 1, PAGES: 107-119
AUTHORS: Ana F Ferreira; Mafalda Raposo; Emily D Shaw; Louisa Liu; João Vasconcelos; Teresa Kay; Conceição Bettencourt; Maria Luiza Saraiva‐Pereira; Laura Bannach Jardim; Maria do Carmo Costa; Manuela Lima ;
PUBLISHED: 2025, SOURCE: Annals of Neurology, VOLUME: 98, ISSUE: 1, PAGES: 107-119
17
TITLE: Bupropion, the atypical antidepressant used in smoke cessation: an in vitro study on its effects on human sperm function
AUTHORS: Brito, Maria; Goncalves, Ana; Barros, Alberto ; Sousa, Mario ; Sa, Rosalia;
PUBLISHED: 2025, SOURCE: F&S SCIENCE, VOLUME: 6, ISSUE: 3, PAGES: 266-274
AUTHORS: Brito, Maria; Goncalves, Ana; Barros, Alberto ; Sousa, Mario ; Sa, Rosalia;
PUBLISHED: 2025, SOURCE: F&S SCIENCE, VOLUME: 6, ISSUE: 3, PAGES: 266-274
18
TITLE: CERKL-associated retinal degeneration in Portugal: Mutational spectrum and retinal phenotypes
AUTHORS: Catarina Pestana Aguiar; Lilianne Duarte; Célia Azevedo Soares ; Pedro Marques Couto; Sérgio Estrela Silva; Ana Luísa Carvalho; João Pedro Marques;
PUBLISHED: 2025, SOURCE: AJO International, VOLUME: 2, ISSUE: 2, PAGES: 100112
AUTHORS: Catarina Pestana Aguiar; Lilianne Duarte; Célia Azevedo Soares ; Pedro Marques Couto; Sérgio Estrela Silva; Ana Luísa Carvalho; João Pedro Marques;
PUBLISHED: 2025, SOURCE: AJO International, VOLUME: 2, ISSUE: 2, PAGES: 100112
INDEXED IN: Scopus CrossRef
Scopus CrossRef19
TITLE: Changes in Regional Practices and Their Effects on the Water Quality of Portuguese Reservoirs
AUTHORS: Pinto, Ivo ; Azevedo, Luisa; Antunes, Sara C. ;
PUBLISHED: 2025, SOURCE: EARTH, VOLUME: 6, ISSUE: 2, PAGES: 29
AUTHORS: Pinto, Ivo ; Azevedo, Luisa; Antunes, Sara C. ;
PUBLISHED: 2025, SOURCE: EARTH, VOLUME: 6, ISSUE: 2, PAGES: 29
20
TITLE: Characterization of infertile couples and outcomes of their first in vitro fertilization cycles at public fertility centers in Northern and Central Portugal: a five-year cohort study
AUTHORS: Emidio Vale-Fernandes ; Ricardo Sousa-Santos; Renato Silva-Martins; Fátima Silva; Filipa Brás; Andreia Leitão-Marques; Sandra Silva-Soares; Marta Osório;
PUBLISHED: 2025, SOURCE: JBRA Assisted Reproduction, VOLUME: 29, ISSUE: 4, PAGES: 670-683
AUTHORS: Emidio Vale-Fernandes ; Ricardo Sousa-Santos; Renato Silva-Martins; Fátima Silva; Filipa Brás; Andreia Leitão-Marques; Sandra Silva-Soares; Marta Osório;
PUBLISHED: 2025, SOURCE: JBRA Assisted Reproduction, VOLUME: 29, ISSUE: 4, PAGES: 670-683
