publicações selecionadas
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artigo académico
- Differential effects of lifespan-extending genetic manipulations in an animal model of MJD/SCA3. Mechanisms of Ageing and Development. 2025
- Rare case of ACTH-independent Cushing syndrome: diagnostic challenges and management. Journal of Pediatric Endocrinology & Metabolism. 2025
- Enhancing clinical decision-making for CNVs of uncertain significance in neurodevelopmental disorders: the relevance (or uselessness) of scoring and segregating. Journal of Medical Genetics. 2025
- "Shared genes, different clinical challenges: A new likely pathogenic variant in the ABCB4 gene". Clinics and Research in Hepatology and Gastroenterology. 2025
- GNB1 and obesity: Evidence for a correlation between haploinsufficiency and syndromic obesity. Clinical Obesity. 2024
- Disruption of POGZ and Syndromic Intellectual Disability: Report of 4 Portuguese Cases. Acta Scientific Paediatrics. 2024
- Glucocorticoid receptor-dependent therapeutic efficacy of tauroursodeoxycholic acid in preclinical models of Spinocerebellar ataxia type 3. Journal of Clinical Investigation. 2024
- Glucocorticoid receptor-dependent therapeutic efficacy of tauroursodeoxycholic acid in preclinical models of Spinocerebellar ataxia type 3 (IF: 19.47). The Journal of Clinical Investigation. 2024
- Diagnostic accuracy and the first genotype–phenotype correlation in glycogen storage disease type V. Pediatric Research. 2023
- Ellis-van Creveld Syndrome. GeneReviews. 2023
- Impact of Structural GLA Protein Changes on Peripheral GLA Activity and Substrate Accumulation in Fabry Disease Patients. Endocrine, Metabolic & Immune Disorders - Drug Targets. 2023
- An SPG7 mutation as a novel cause of monogenic progressive muscular atrophy. Neurological Sciences. 2023
- Establishing an objective clinical spectrum, genotype-phenotype correlations, and CRMP1 as a modifier in the Ellis-van Creveld syndrome: The first systematic review of EVC- and EVC2-associated conditions. Genetics in Medicine Open. 2023
- A Novel Frameshift CHD4 Variant Leading to Sifrim-Hitz-Weiss Syndrome in a Proband with a Subclinical Familial t(17;19) and a Large Dup(2)(q14.3q21.1). Biomedicine. 2022
- Refining the Clinical Spectrum of the 17p13.3 Microduplication Syndrome: Case-Report of a Familial Small Microduplication. Biomedicine. 2022
- Telehealth in genetic counselling consultations: the impact of COVID-19 in a Portuguese genetic healthcare service. Journal of Community Genetics. 2022
- Tet3 Deletion in Adult Brain Neurons of Female Mice Results in Anxiety-like Behavior and Cognitive Impairments. Molecular Neurobiology. 2022
- Aripiprazole Offsets Mutant ATXN3-Induced Motor Dysfunction by Targeting Dopamine D2 and Serotonin 1A and 2A Receptors in C. elegans. Biomedicine. 2022
- Case Report: A Novel GNB1 Mutation Causes Global Developmental Delay With Intellectual Disability and Behavioral Disorders. Frontiers in Neurology. 2021
- Reduced hippocampal ten-eleven translocation 3 (Tet3) protein expression in Tet3 conditional knockout mice. Elife. 2021
- Opicapone in Parkinson’s Disease: Real-World Data from a Portuguese Center. European Neurology. 2021
- Loss of egli-1, the Caenorhabditis elegans Orthologue of a Downstream Target of SMN, Leads to Abnormalities in Sensorimotor Integration. Molecular Neurobiology. 2020
- Tet3 ablation in adult brain neurons increases anxiety-like behavior and regulates cognitive function in mice. Elife. 2020
- Bone Marrow Mesenchymal Stem Cells' Secretome Exerts Neuroprotective Effects in a Parkinson's Disease Rat Model. Frontiers in Bioengineering and Biotechnology. 2019
- From Pathogenesis to Novel Therapeutics for Spinocerebellar Ataxia Type 3: Evading Potholes on the Way to Translation. Neurotherapeutics. 2019
- Phospholipase D functional ablation has a protective effect in an Alzheimer’s disease Caenorhabditis elegans model. Acta Cytologica. 2018
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artigo de conferência
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documento
- Learning is a lifelong experience: lessons from 30 years of the portuguese Fanconi anemia cohort 2025
- Application of the ABC classification system in a clinical case of Marbach-Schaaf syndrome 2025
- Disruption of POGZ and syndromic intellectual disability: report of 4 Portuguese cases 2025
- Genetic counselling and carrier screening: 4-year experience of the first public gamete bank in Portugal 2025
- The role of genetic counselling in presymptomatic genetic testing: lessons from familial amyloidosis polyneuropathy (FAP) 2025
- Illustrating the impact of clinical-laboratory integration in the diagnosis and treatment of inborn errors of cobalamin metabolism 2024
- Minimizing invasive diagnostic procedures through unconventional genetic testing in McCune-Albright syndrome 2024
- Non-invasive prenatal testing for the detection of low-expressivity mosaic trisomy 21 2024
- Navigating the uncertainty of mosaicism: a systematic review of prenatal mosaic trisomy 21 cases 2024
- Síndrome Hereditária de Predisposição para Cancro: Diagnóstico incidental durante o período pré-natal no contexto de anomalia nefro-urológica fetal 2024
- Cascade family screening in BRCA1/2 cancer susceptibility syndromes: hits and misses from 5 years of experience 2024
- Diagnostic accuracy and the first genotype-phenotype correlation in glycogen storage disease type V 2024
- Impact of structural GLA protein changes on peripheral GLA activity and substrate accumulation in Fabry disease patients. 2024
- Há 40 anos, David teve uma bolha como casa. Hoje, a sua doença já não é uma sentença de morte 2024
- Portugal espera avanços no rastreio neonatal de imunodeficiência rara desde 2016 2024
- Isolated follicle-stimulating hormone (FSH) deficiency in male sex: case report 2024
- Application of the ABC classification system in a clinical case of Marbach-Schaaf syndrome 2023
- Disruption of POGZ and syndromic intellectual disability: report of 4 Portuguese cases 2023
- Genetic counselling and carrier screening: 4-year experience of the first public gamete bank in Portugal 2023
- Learning is a lifelong experience: lessons from 30 years of the portuguese Fanconi anemia cohort 2023
- The role of genetic counselling in presymptomatic genetic testing: lessons from familial amyloidosis polyneuropathy (FAP) 2023
- Rastreio Oncológico em Cascata: Sucessos e Insucessos em 5 Anos de Experiência 2023
- ATXN3-mediated deubiquitylation of splicing factors regulates neuronal mRNA splicing and tau isoform ratio ATXN3 regulates SRSF7 levels and Tau ratio 2023
- Unveiling Promising Compounds for Boosting Proteostasis: A Rapid Whole-Animal Organism Phenotypic Assay 2023
- A paradoxical endeavor in genetic syndromes of non-muscular actin: absence of the typical actinopathy immune dysregulation 2023
- Progressive familial intrahepatic cholestasis type 3: a new likely pathogenic variant of ABCB4 gene 2023
- FastProtAct - FAST-throughput phenotypic assay to identify compounds with PROTeostasis ACTivity. 2023
- The glucocorticoid receptor as a biomarker and neuronal therapeutic target of a disease-improving bile acid in SCA3/MJD 2023
- Deletion of histone-coding genes and fetal malformations: the first prenatal description of Rahman syndrome caused by a complex chromosomal deletion. 2023
- Identification of novel molecules with proteostasis enhancement activity using a whole-animal based fast-throughput phenotypic assay 2023
- Establishing an objective clinical spectrum and genotype-phenotype correlations and CRMP1 as a modifiers in the Ellis-van Creveld syndrome: the first systematic review of EVC and EVC2-associated conditions. 2023
- Hipogonadismo hipogonadotrófico familiar - descrição de dois irmãos com síndrome cúbito-mamária 2023
- The Portuguese State of Art for Low Penetrance CNVs in the Prenatal Setting 2023
- Encefalopatia por mutação no gene CHD2 com crises sensíveis a padrões 2023
- Establishing an objective clinical spectrum and genotype-phenotype correlations in the Ellis-van Creveld syndrome: the first systematic review of EVC and EVC2-associated conditions. 2022
- Glucocorticoid Receptor as a Biomarker and Neuronal Therapeutic Target of a Disease-Improving Bile Acid in SCA3/MJD 2022
- The Glucocorticoid Receptor as a Biomarker and Neuronal Therapeutic Target of a Disease-Improving Bile Acid in SCA3/MJD 2022
- Complexo Esclerose Tuberosa: desafio no diagnóstico e aconselhamento em pré-natal 2022
- Chemical screening for novel therapeutic target identification in Machado-Joseph disease 2022
- Development of a high-throughput phenotypic assay to screen for chemical enhancers of proteostasis activity in Caenorhabditis elegans 2022
- Rare hormones in a rare disease: the mutational spectrum of the GNAS gene 2022
- A familial case of the chromosome 1q21.1 deletion syndrome: the relevance of accurate cytogenetic testing for genetic counselling 2022
- Impact of the COVID-19 pandemic in the neurology clinical practice 2020
- Opicapone in Parkinson’s Disease – a centre’s real-life experience 2020
- Cervical Artery Dissection: a recurrence analysis 2020
- Targeting of the serotonin (1A) receptor suppresses mutant ataxin-3 pathogenesis in C. elegans. 2019
- A Glucorticoid receptor-dependent mechanism of bile acid action with therapeutic impact in polyglutamine disease 2019
- A glucocorticoid receptor-dependent mechanism of bile acid action with therapeutic impact in polyglutamine disease 2019
- Anti-aging genetic manipulation in C. elegans impact differentially in Machado-Joseph disease 2019
- Targeting of the Serotonin (1A) Receptor Suppresses Mutant Ataxin-3 Pathogenesis in C. elegans 2019
- Genetic and pharmacological modifiers of ATXN3 proteotoxicity converge to antioxidant response pathways 2018
- The impact of PLD functional ablation in an Alzheimer's disease Caenorhabditis elegans model 2017
- The impact of phospholipase D functional ablation in physiology and in disease models in Caenorhabditis elegans 2017
- Phospholipase D as a modulator of body size and longevity 2014
- Ellis-Van Creveld Syndrome
- Review of: A Variant in Genes of the NPY System as Modifier Factor of Machado-Joseph Disease in the Chinese Population
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teses