Accès ouvert
2026
article
OpenAlex
Antonio Costa, Vasco Abreu, Diogo Costa, Margarida Calejo et autres
BACKGROUND: Sporadic Progressive Ataxia with Palatal Tremor (PAPT) is an extremely rare movement disorder syndrome with only three autopsy reports published in the literature to date. Previously described cases showed hypertrophic olivary degeneration with tau-positive neuronal inclusions, although differences were noted in …
pt, fr
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2025
article
OpenAlex
Emerson Leandro da Silva Silva, Lucas Victor Menezes Pereira, Ana Cláudia Carvalho, Debora Soares de Araujo et autres
O diagnóstico precoce do câncer de pele é um desafio central para a saúde pública, especialmente em contextos com acesso limitado a especialistas. Nesse cenário, a inteligência artificial (IA) surge como ferramenta estratégica para apoiar triagens, ampliar a cobertura assistencial e proporcionar …
2025
conference-paper
OpenAlex
Jorge Oliveira, GRESTHIANE RAMOS LACERDA
2025
article
OpenAlex
Rita Nunes Rato, André Maurício Souza Fernandes, Daniela Ferro, Ana Grangeia et autres
pt, fr
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Accès ouvert
2025
article
OpenAlex
Joana Damásio, Mariana Santos, Sara Costa, João Moura et autres
Background and Objectives: Hereditary cerebellar ataxia (HCA) and hereditary spastic paraplegia (HSP) are rare neurologic disorders that often represent opposite ends of a shared clinical spectrum. Spastic ataxia, defined by the co-occurrence of cerebellar syndrome and overt spasticity, remains comparatively underexplored and …
pt
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2025
book
OpenAlex
Adelson Oliveira Mendes, Andréa Pereira Cerqueira, Astrid Alvarez de la Cruz, Bárbara Maria Sousa Medeiros et autres
O livro Entre Códigos e Narrativas: Fronteiras da Literatura e do Direito nasce das reflexões acadêmicas desenvolvidas no âmbito do Programa de Pós-Graduação em Literatura da Universidade de Brasília (UnB), a partir da disciplina Fronteiras da Literatura – Literatura e Direito. A …
Accès ouvert
2025
article
OpenAlex
Catarina Serrão, Jorge Oliveira, João Parente Freixo, Ana Patrícia Antunes et autres
Coats plus (Cp) is a pleiotropic disorder with multisystemic manifestations including retinal vascular disease and leukoencephalopathy with intracranial calcifications and cysts. It is an autosomal recessive telomere biology disorder mostly associated with compound heterozygous defects in CTC1 gene. Cp typically presents in …
pt
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2025
book
OpenAlex
Ana Carolina de Laurentiis Brandão, Billy Chen, Cédric Fluckiger, Cíntia Regina Lacerda Rabello et autres
Uma lei proibiu os celulares nas escolas… e agora? Pesquisadores de renome analisam criticamente essa lei e revelam como soluções simplistas podem aprofundar desigualdades e limitar o potencial das tecnologias digitais. Os capítulos examinam os efeitos da hiperconectividade, os riscos da vigilância …
2025
article
OpenAlex
Antônio Carlos dos Reis Bezerra, Jorge Oliveira, Gleisson Amaral
Accès ouvert
2025
article
OpenAlex
Catarina Correia Rodrigues, Ana Antunes, Jorge Oliveira, João Parente Freixo et autres
Ethical Compliance Statement: The authors confirm that the approval of an institutional review board was not required for this work. Written informed consent was obtained for publication purposes. We confirm that we have read the Journal's position on issues involved in ethical …
pt
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2025
book-chapter
OpenAlex
Clara Lopes Lima, Henrique Silva, Jorge Oliveira, M. Sousa
Accès ouvert
2025
article
OpenAlex
Mafalda Melo, Mariana Ribeiro, Paulo Silva, Susana Valente et autres
The application of whole-exome sequencing (WES) for diagnostic purposes has the potential to unravel secondary findings unrelated with the primary reason of testing. Some of those might be of high clinical utility and comprise disease-causing variants in genes, related to life-threatening and …
pt
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