A5089477553- Migraine and Headache Studies
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Neuroscience of respiration and sleep
- Genetic Neurodegenerative Diseases
- Cleft Lip and Palate Research
- Mitochondrial Function and Pathology
- Nicotinic Acetylcholine Receptors Study
- dental development and anomalies
- DNA Repair Mechanisms
- Alzheimer's disease research and treatments
- Oral and Maxillofacial Pathology
- Musculoskeletal pain and rehabilitation
- Epilepsy research and treatment
- Gastric Cancer Management and Outcomes
- Maternal and Neonatal Healthcare
- Health, Nursing, Elderly Care
- Public Health in Brazil
- Spine and Intervertebral Disc Pathology
- Parathyroid Disorders and Treatments
- Craniofacial Disorders and Treatments
- Temporomandibular Joint Disorders
- Genomics and Rare Diseases
- Protein Kinase Regulation and GTPase Signaling
- Cancer Cells and Metastasis
- Trigeminal Neuralgia and Treatments
Universidade do Porto
2016-2025
Columbia University Irving Medical Center
2025
i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto
2015-2024
Universidade Federal de Santa Catarina
2024
Institute of Biomedical Science
2007-2023
Instituto de Biologia Molecular e Celular
2010-2023
Centro Hospitalar de Trás os Montes e Alto Douro
2023
Centro Hospitalar de Vila Nova de Gaia
2023
Centro de Medicina de Reabilitacao do Alcoitão
2023
Centro Hospitalar do Porto
2023
This study aims to characterize the clinical spectrum and genetic landscape of IRDs in Portugal. Multicentre, cross-sectional, cohort comprising consecutive patients with a diagnosis IRD available results, enroled IRD-PT registry (retina.com.pt). Among 1369 from 1125 families, most frequently observed phenotype was non-syndromic retinitis pigmentosa (40.8%). A genetically confirmed achieved 72.3% families. Consanguinity one-fifth cases, contributing higher frequency homozygous variants...
Almost all mutations in the SCN1A gene, encoding alpha(1) subunit of neuronal voltage-gated Na(V)1.1 sodium channels, are associated with severe childhood epilepsy. Recently, two were identified patients pure familial hemiplegic migraine (FHM). Here, we a novel L263V mutation Portuguese family partly co-segregating and The segregated five FHM patients, three whom also had epileptic attacks, occurring independently from their attacks. is first co-occurring epilepsy multiple carriers, clearest...
<h3>Background</h3> Early-onset (≤40 years) and later-onset (≥50 cases of familial amyloid polyneuropathy (FAP) ATTRV30M are not different entities, often coexisting in the same family, showing anticipation (earlier age-at-onset (AO) younger generations, usually associated with more severe phenotype). Historically, has been ascribed to ascertainment biases. Our aim was study a very large number FAP kindreds, removing possible biases, gain further insight into parent-of-origin effects....
Chromosome alignment to the spindle equator is a hallmark of mitosis thought promote chromosome segregation fidelity in metazoans. Yet only indirectly supervised by assembly checkpoint (SAC) as byproduct bi-orientation, and consequences defective remain unclear. Here, we investigated how human cells respond defects distinct molecular nature following fate live HeLa after RNAi-mediated depletion 125 proteins previously implicated alignment. We confirmed upon 108/125 proteins. Surprisingly,...
Abstract Background Hereditary cerebellar ataxia (HCA) represents a complex group of disorders, with wide spectrum neurological symptoms. Among these, non‐ataxia movement disorders (MD) have been increasingly acknowledged, variable frequency across different forms. Objectives To characterize the type and MD in patients HCA. identify factors associated analyze their impact on disability. Methods We conducted prospective study starting 2017, annual visits according to structured protocol....
Incorrect kinetochore–microtubule attachments during mitosis can lead to chromosomal instability, a hallmark of human cancers. Mitotic error correction relies on the kinesin-13 MCAK, microtubule depolymerase whose activity in vitro is suppressed by α-tubulin detyrosination—a posttranslational modification enriched long-lived microtubules. However, whether and how MCAK required for mitotic regulated detyrosination remains unknown. Here we found that detyrosinated accumulates correct, more...
Genetic testing is becoming more commonplace in general and specialist health care, should always be accompanied by genetic counselling, according to legislation many European countries recommendations professional bodies. Personal competence necessary provide safe effective counselling. Clinical counselling supervision of genetics healthcare practitioners plays a key role quality assurance, providing environment not only for patients but professionals too. However, countries, counsellors...
Objectives: Migraine pathophysiology involves several pathways. Our aims were to explore a possible role of the brain-derived neurotrophic factor gene ( BDNF) in migraine susceptibility; study, for first time, calcitonin gene-related peptide CGRP); and interaction between two. Methods: Using case-control approach, four tagging single nucleotide polymorphisms (SNPs) (rs7124442, rs6265, rs11030107, rs2049046) BDNF one SNP—rs1553005—of CGRP analyzed 188 cases 287 controls. A multivariable...
Evaluation of the impact liver transplantation in natural history ocular disorders familial amyloidotic polyneuropathy (FAP) amyloidosis TTR V30M related (ATTR V30M) patients.A clinical, retrospective and cross-sectional study 64 Portuguese FAP ATTR patients was carried out between January 2005 December 2011.Thirty-two transplanted (both eyes) aged 39.6-53.8 years old, 32/32 male/female, were paired with an equal number non-transplanted patients, matching for age, gender, age at onset,...
Tooth agenesis affects 20% of the world population, and maxillary lateral incisors (MLIA) is one most frequent subtypes, characterized by absence formation deciduous or permanent incisors. Odontogenesis a complex mechanism regulated sequential reciprocal epithelial-mesenchymal interactions, controlled activators inhibitors involved in several pathways. Disturbances these signaling cascades can lead to abnormalities odontogenesis, resulting alterations normal teeth number. Our aim was study...
In spite of recent developments, data regarding the genes responsible for less severe forms hypodontia are still scarce and controversial. This study addressed hypothesis that agenesis maxillary lateral incisors (MLIA) is a distinct type hypodontia, by evaluating its familial aggregation occurrence other types ageneses or microdontia in probands' relatives. Sixty-two probands with MLIA were identified, information was collected on 142 first-degree Relative risk (RR) calculated compared...
doi: 10.5216/ree.v12i4.6585 A organização de serviços urgência/emergência propicia elementos para assistência qualificada integral e contínua aos usuários. Trata-se revisão integrativa literatura com objetivo sintetizar produção científica latino americana sobre dos hospitalar no período 1988 a março 2010. Os dados foram coletados em base eletrônica (LILACS) registrados instrumento específico. amostra totalizou 41 publicações. artigos agrupados por similaridade conteúdo: aspectos estruturais...
To identify possible factors affecting the psychological impact of pre-symptomatic testing for spinocerebellar ataxia type 2 (SCA2) and familial amyloid polyneuropathy (FAP ATTRV30M), we studied (1) effect previous experience with disease in family, (2) kinship closest affected relative (3) gender parent, when adapting to test results; as well (4) differences course wellbeing 63 subjects ( 28 at-risk FAP ATTRV30M, 35 at risk SCA2), who pursued predictive these diseases, Cuba Portugal. Our...
Significance Evidence suggests that transthyretin (TTR) amyloid diseases result from rate-limiting dissociation of TTR tetramers secreted the liver into monomers, followed by monomer misfolding and misassembly a spectrum aggregates compromise postmitotic tissue function, including peripheral nerve function. It is unknown how aggregation leads to demise neurons cell nonautonomously. Herein we introduce transgenic Caenorhabditis elegans models amyloidosis exhibit quantifiable nonautonomous...
Abstract Background and Aims Alport syndrome (AS) is the most common cause of inherited chronic kidney disease. This disorder caused by deleterious variants on COL4A3, COL4A4 or COL4A5 genes. These genes codify proteins that constitute collagen type IV glomerular basement membrane (GBM). Alterations in any constituents disruption GMB structure, allowing leakage red blood cells proteins, mainly albumin, into urine resulting damage loss renal function. In AS progressive impairment can be...