Zobrazeno 1 - 10
of 263
pro vyhledávání: '"Carolina Lemos"'
Autor:
Inês Alves, Fjorda Koromani, Carolina Lemos, Sofia Tavares, Orlando Fernandes, Cidália D. Pereira, Maria António Castro, Fernando Rivadeneira
Publikováno v:
Journal of Rare Diseases, Vol 3, Iss 1, Pp 1-23 (2024)
Externí odkaz:
https://doaj.org/article/e16ad90f04ab4ffe8b78be989ef4a15f
Autor:
Ana Marta, João Pedro Marques, Cristina Santos, Luísa Coutinho-Santos, Sara Vaz-Pereira, José Costa, Pedro Arede, Raquel Félix, Sara Geada, Nuno Gouveia, Rui Silva, Margarida Baptista, Miguel Lume, Ricardo Parreira, Célia Azevedo Soares, Maria João Menéres, Carolina Lemos, João Melo Beirão
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-12 (2024)
Abstract Background Inherited retinal diseases (IRDs) are a group of rare degenerative disorders of the retina that can lead to blindness from birth to late middle age. Knowing the target population and its resources is essential to better plan suppo
Externí odkaz:
https://doaj.org/article/9875a6d3f0cd430c869ea987bc399996
Autor:
Luís Teves, Ana Rosa Vieira Melo, Ana F. Ferreira, Mafalda Raposo, Carolina Lemos, Conceição Bettencourt, Manuela Lima
Publikováno v:
Epigenetics, Vol 19, Iss 1 (2024)
Machado-Joseph disease (MJD) is an autosomal dominant spinocerebellar ataxia (SCA) caused by a polyglutamine expansion in the ataxin-3 protein, which initiates a cascade of pathogenic events, including transcriptional dysregulation. Genotype-phenotyp
Externí odkaz:
https://doaj.org/article/472df691daa1475e883206ce450dc80b
Autor:
Henrique Fernandes-Mendes, Catarina M. Azevedo, Mónica Garrido, Carolina Lemos, Isabel Pedroto, Salomé S. Pinho, Ricardo Marcos-Pinto, Ângela Fernandes
Publikováno v:
GE: Portuguese Journal of Gastroenterology, Pp 1-13 (2024)
Introduction: The serrated pathway contributes to interval colorectal cancers, highlighting the need for new biomarkers to assess lesion progression risk. The β1,6-GlcNAc branched N-glycans expression in CRC cells was associated with an invasive phe
Externí odkaz:
https://doaj.org/article/445fb651199849ddae5cb65f18a68918
Autor:
Ana Marta, MD, MSc, Vasco Miranda, MD, MSc, Miguel Lume, MD, MSc, Ricardo Parreira, MD, MSc, Célia Azevedo Soares, MD, PhD, Maria João Menéres, MD, MSc, Carolina Lemos, PhD, João Melo Beirão, MD, PhD
Publikováno v:
Ophthalmology Science, Vol 4, Iss 3, Pp 100443- (2024)
Purpose: To evaluate the visual impairment of patients with inherited retinal diseases (IRDs), as per the national table of disabilities (TNI). Design: Retrospective, single-center cohort study. Participants: Patients with a clinical diagnosis of IRD
Externí odkaz:
https://doaj.org/article/9b821dd5626c44c18a19fc0a93c9aad7
Autor:
Daniela Felício, Andreia Dias, Sandra Martins, Estefânia Carvalho, Alexandra M. Lopes, Nádia Pinto, Carolina Lemos, Mariana Santos, Miguel Alves-Ferreira
Publikováno v:
The Journal of Headache and Pain, Vol 24, Iss 1, Pp 1-7 (2023)
Abstract Migraine is a common and complex neurological disease potentially caused by a polygenic interaction of multiple gene variants. Many genes associated with migraine are involved in pathways controlling the synaptic function and neurotransmitte
Externí odkaz:
https://doaj.org/article/99d01bb37c1441798b159c5e6deff1eb
Publikováno v:
Revista Brasileira de Ortopedia, Vol 58, Iss 1, Pp 48-57 (2023)
Abstract Objective The present study aims to evaluate the screw length and trajectory angles for posterior atlantoaxial fixation in a Portuguese population, through the study of cervical computed tomography (CT) scans. Methods Cervical CT scans of 50
Externí odkaz:
https://doaj.org/article/62ec12e602ec4e568dc2a28339271388
Autor:
Telma S. Martins, Miguel Correia, Denise Pinheiro, Carolina Lemos, Marta Vaz Mendes, Clara Pereira, Vítor Costa
Publikováno v:
Cells, Vol 13, Iss 8, p 655 (2024)
The Sit4 protein phosphatase plays a key role in orchestrating various cellular processes essential for maintaining cell viability during aging. We have previously shown that SIT4 deletion promotes vacuolar acidification, mitochondrial derepression,
Externí odkaz:
https://doaj.org/article/61fe05bfd68e4f5db6a4daf7bbe62a24
Autor:
Diogo Cruz, Francisca Monteiro, Maria Paço, Manuel Vaz-Silva, Carolina Lemos, Miguel Alves-Ferreira, Teresa Pinho
Publikováno v:
Japanese Dental Science Review, Vol 58, Iss , Pp 69-88 (2022)
Primary headache disorders (PHD), specifically migraine, are strongly associated with temporomandibular disorders (TMD), sharing some patterns of orofacial pain. Both disorders have significant genetic contributions already studied. PRISMA guidelines
Externí odkaz:
https://doaj.org/article/9e854cc05c99491dbf69815bdee8aae4
Autor:
Miguel Alves-Ferreira, Marlene Quintas, Jorge Sequeiros, Alda Sousa, José Pereira-Monteiro, Isabel Alonso, João Luís Neto, Carolina Lemos
Publikováno v:
The Journal of Headache and Pain, Vol 22, Iss 1, Pp 1-8 (2021)
Abstract Background Migraine is a multifactorial disorder that is more frequent (two to four times) in women than in men. In recent years, our research group has focused on the role of neurotransmitter release and its regulation. Neurexin (NRXN2) is
Externí odkaz:
https://doaj.org/article/83fa3f15c8ef4c6199cf5a86de2f6dae