publicações selecionadas
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artigo académico
- Transition from Animal-Based to Human Induced Pluripotent Stem Cells (iPSCs)-Based Models of Neurodevelopmental Disorders: Opportunities and Challenges. Cells. 2023
- An Image Processing Application for Quantification of Protein Aggregates in Caenorhabditis Elegans 2011
- Atypical stereotypies and vocal ties in rett syndrome: An illustrative case. Movement Disorders. 2008
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artigo de revista
- Learning the Biochemical Basis of Axonal Guidance: Using Caenorhabditis elegans as a Model. Biomedicines. 2023
- Microglial Depletion Has No Impact on Disease Progression in a Mouse Model of Machado-Joseph Disease. Cells. 2022
- Aripiprazole Offsets Mutant ATXN3-Induced Motor Dysfunction by Targeting Dopamine D2 and Serotonin 1A and 2A Receptors in C. elegans. Biomedicines. 2022
- Profiling Microglia in a Mouse Model of Machado-Joseph Disease. Biomedicines. 2022
- Preclinical Assessment of Mesenchymal-Stem-Cell-Based Therapies in Spinocerebellar Ataxia Type 3. Biomedicines. 2021
- Neurotherapeutic effect of Hyptis spp. leaf extracts in Caenorhabditis elegans models of tauopathy and polyglutamine disease: Role of the glutathione redox cycle. Free Radical Biology and Medicine. 2021
- Data on the effects of Hyptis spp. and Lycium spp. plant extracts in C. elegans models of genetically determined neurodegenerative diseases. Data in Brief. 2020
- Unravelling the anticancer potential of functionalized chromeno[2,3-b]pyridines for breast cancer treatment. Bioorganic Chemistry. 2020
- GST-4-Dependent Suppression of Neurodegeneration in C. elegans Models of Parkinson's and Machado-Joseph Disease by Rapeseed Pomace Extract Supplementation. Frontiers in Aging Neuroscience. 2019
- From Pathogenesis to Novel Therapeutics for Spinocerebellar Ataxia Type 3: Evading Potholes on the Way to Translation. Neurotherapeutics. 2019
- Genomic imbalances defining novel intellectual disability associated loci. Orphanet Journal of Rare Diseases. 2019
- Preclinical Evidence Supporting Early Initiation of Citalopram Treatment in Machado-Joseph Disease. Molecular Neurobiology. 2019
- Neurotoxic effects of MPTP on mouse cerebral cortex: Modulation of neuroinflammation as a neuroprotective strategy. Molecular and Cellular Neuroscience. 2019
- The Role of AKT3 Copy Number Changes in Brain Abnormalities and Neurodevelopmental Disorders: Four New Cases and Literature Review.. Frontiers in Genetics. 2019
- Tauroursodeoxycholic Acid Improves Motor Symptoms in a Mouse Model of Parkinson's Disease. Molecular Neurobiology. 2018
- Citalopram Reduces Aggregation of ATXN3 in a YAC Transgenic Mouse Model of Machado-Joseph Disease. Molecular Neurobiology. 2018
- Identification of rare de novo epigenetic variations in congenital disorders. Nature Communications. 2018
- Neuroprotective Effects of Creatine in the CMVMJD135 Mouse Model of Spinocerebellar Ataxia Type 3. Movement Disorders. 2018
- Revalorisation of rapeseed pomace extracts: An in vitro study into its anti-oxidant and DNA protective properties. Food Chemistry. 2018
- The contribution of 7q33 copy number variations for intellectual disability. Neurogenetics. 2017
- Whole Gene Deletion of EBF3 Supporting Haploinsufficiency of This Gene as a Mechanism of Neurodevelopmental Disease. Frontiers in Genetics. 2017
- A novel microduplication of ARID1B : Clinical, genetic, and proteomic findings. American Journal of Medical Genetics Part A. 2017
- Altered striatal endocannabinoid signaling in a transgenic mouse model of spinocerebellar ataxia type-3. Antibiotics. 2017
- Discovery of Therapeutic Approaches for Polyglutamine Diseases: A Summary of Recent Efforts. Medicinal Research Reviews. 2017
- Dysregulation of the endocannabinoid signaling system in the cerebellum and brainstem in a transgenic mouse model of spinocerebellar ataxia type-3. Neuroscience. 2016
- Identification of novel genetic causes of Rett syndrome-likephenotypes. Journal of Medical Genetics. 2016
- Combined therapy with m-TOR-dependent and -independent autophagy inducers causes neurotoxicity in a mouse model of Machado-Joseph disease. Neuroscience. 2016
- Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications. Journal of Medical Genetics. 2016
- Institutionalization and indiscriminate social behavior: Differential-susceptibility versus diathesis-stress models for the 5-HTTLPR and BDNF genotypes. Physiology & Behavior. 2015
- Serotonergic signalling suppresses ataxin 3 aggregation and neurotoxicity in animal models of Machado-Joseph disease. Brain. 2015
- Variant Rett syndrome in a girl with a pericentric X-chromosome inversion leading to epigenetic changes and overexpression of the MECP2 gene. International Journal of Developmental Neuroscience. 2015
- Limited Effect of Chronic Valproic Acid Treatment in a Mouse Model of Machado-Joseph Disease. Antibiotics. 2015
- The disruption of proteostasis in neurodegenerative diseases. AIMS Molecular Science. 2015
- Novel candidate blood-based transcriptional biomarkers of machado-joseph disease. Movement Disorders. 2015
- Redefining the MED13L syndrome. European Journal of Human Genetics. 2015
- Differential mtDNA Damage Patterns in a Transgenic Mouse Model of Machado-Joseph Disease (MJD/SCA3). Journal of Molecular Neuroscience. 2015
- The Role of the Mammalian DNA End-processing Enzyme Polynucleotide Kinase 3'-Phosphatase in Spinocerebellar Ataxia Type 3 Pathogenesis. 2015
- Inactivation of PNKP by Mutant ATXN3 Triggers Apoptosis by Activating the DNA Damage-Response Pathway in SCA3. Antibiotics. 2015
- Dominant negative effect of polyglutamine expansion perturbs normal function of ataxin-3 in neuronal cells. Human Molecular Genetics. 2015
- Lithium Chloride Therapy Fails to Improve Motor Function in a Transgenic Mouse Model of Machado-Joseph Disease. Cerebellum. 2014
- Chronic Treatment with 17-DMAG Improves Balance and Coordination in A New Mouse Model of Machado-Joseph Disease. Neurotherapeutics. 2014
- Coffin-siris syndrome and the BAF complex: Genotype-phenotype study in 63 patients. Human Mutation. 2013
- Patterns of mitochondrial DNA damage in blood and brain tissues of a transgenic mouse model of Machado-Joseph disease. Neurodegenerative Diseases. 2013
- Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2. Orphanet Journal of Rare Diseases. 2013
- Using C-elegans to Decipher the Cellular and Molecular Mechanisms Underlying Neurodevelopmental Disorders. Molecular Neurobiology. 2013
- Role of the ubiquitin-proteasome system in nervous system function and disease: Using C. elegans as a dissecting tool. Cellular and Molecular Life Sciences. 2012
- Sequence analysis of 5' regulatory regions of the Machado-Joseph disease gene (ATXN3). Cerebellum. 2012
- The rs5743836 polymorphism in TLR9 confers a population-based increased risk of non-Hodgkin lymphoma. Genes and Immunity. 2012
- The APOE ε2 allele increases the risk of Earlier Age at onset in Machado-Joseph disease. Archives of Neurology. 2011
- Neuron-specific proteotoxicity of mutant ataxin-3 in C. elegans: Rescue by the DAF-16 and HSF-1 pathways. Human Molecular Genetics. 2011
- Absence of Ataxin-3 Leads to Enhanced Stress Response in C. elegans. Antibiotics. 2011
- Rett syndrome with and without detected MECP2 mutations: An attempt to redefine phenotypes. Brain and Development. 2011
- Monoamine deficits in the brain of methyl-CpG binding protein 2 null mice suggest the involvement of the cerebral cortex in early stages of Rett syndrome. Neuroscience. 2010
- Motor uncoordination and neuropathology in a transgenic mouse model of Machado-Joseph disease lacking intranuclear inclusions and ataxin-3 cleavage products. Neurobiology of Disease. 2010
- Absence of ataxin-3 leads to cytoskeletal disorganization and increased cell death. Biochimica Et Biophysica Acta-Molecular Cell Research. 2010
- Ataxin-3 Plays a Role in Mouse Myogenic Differentiation through Regulation of Integrin Subunit Levels. Antibiotics. 2010
- Familial aggregation of maxillary lateral incisor agenesis. Journal of Dental Research. 2010
- Increased transcript diversity: Novel splicing variants of Machado-Joseph Disease gene (ATXN3). Neurogenetics. 2010
- Motor and behavioural abnormalities associated with persistent spontaneous epilepsy in the fvb/n mouse strain. Scandinavian Journal of Laboratory Animal Science. 2010
- Mutational analysis of MSX1 and PAX9 genes in Portuguese families with maxillary lateral incisor agenesis. European Journal of Orthodontics. 2010
- Nutrition and gastrointestinal disorders in Rett syndrome: Importance of early intervention | Trastornos nutricionales y gastrointestinales en el síndrome de Rett: importancia de la intervención temprana. Anales de Pediatria. 2010
- The (CAG)n tract of Machado-Joseph Disease gene (ATXN3): A comparison between DNA and mRNA in patients and controls. European Journal of Human Genetics. 2010
- ATX-3, CDC-48 and UBXN-5: A new trimolecular complex in Caenorhabditis elegans. Biochemical and Biophysical Research Communications. 2009
- Developmental disturbances associated with agenesis of the permanent maxillary lateral incisor. British Dental Journal. 2009
- Evaluation of CSF neurotransmitters and folate in 25 patients with Rett disorder and effects of treatment. Brain and Development. 2009
- Mutations in the MECP2 gene are not a major cause of rett syndrome-like or related neurodevelopmental phenotype in male patients. Journal of Child Neurology. 2009
- Nucleocytoplasmic shuttling activity of ataxin-3. Antibiotics. 2009
- Analysis of highly conserved regions of the 3'UTR of MECP2 gene in patients with clinical diagnosis of Rett syndrome and other disorders associated with mental retardation.. Disease Markers. 2008
- Movement disorders in Rett syndrome: An analysis of 60 patients with detected MECP2 mutation and correlation with mutation type. Movement Disorders. 2008
- Segregation distortion of wild-type alleles at the Machado-Joseph disease locus: A study in normal families from the Azores islands (Portugal). Journal of Human Genetics. 2008
- T-1237C polymorphism of TLR9 gene is not associated with multiple sclerosis in the Portuguese population. Multiple Sclerosis. 2008
- The C677T polymorphism in MTHFR is not associated with migraine in Portugal.. Disease Markers. 2008
- Neurodevelopment milestone abnormalities in rats exposed to stress in early life. Neuroscience. 2007
- Abnormal movements in Rett syndrome are present before the regression period: A case study. Movement Disorders. 2007
- An explanation for another familial case of Rett syndrome: Maternal germline mosaicism. European Journal of Human Genetics. 2007
- Evidence for abnormal early development in a mouse model of Rett syndrome. Genes, Brain and Behavior. 2007
- Functional genomics and biochemical characterization of the C-elegans orthologue of the Machado-Joseph disease protein ataxin-3. Faseb Journal. 2007
- MECP2 coding sequence and 3'UTR variation in 172 unrelated autistic patients. American Journal of Medical Genetics Part B-Neuropsychiatric Genetics. 2007
- NEDD8: A new ataxin-3 interactor. Biochimica Et Biophysica Acta-Molecular Cell Research. 2007
- Stereotypies in Rett syndrome: Analysis of 83 patients with and without detected MECP2 mutations. Neurology. 2007
- Study of disease-relevant polymorphisms in the TLR4 and TLR9 genes: A novel method applied to the analysis of the Portuguese population. Molecular and Cellular Probes. 2007
- Linkage disequilibrium screening for multiple sclerosis implicates JAG1 and POU2AF1 as susceptibility genes in Europeans.. Journal of Neuroimmunology. 2006
- APOE epsilon variation in multiple sclerosis susceptibility and disease severity: Some answers. Neurology. 2006
- Chromatin remodeling and neuronal function: Exciting links. Genes, Brain and Behavior. 2006
- Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype. Journal of Human Genetics. 2006
- The CAG repeat at the Huntington disease gene in the Portuguese population: Insights into its dynamics and to the origin of the mutation. Journal of Human Genetics. 2006
- Detection of heterozygous deletions and duplications in the MECP2 gene in Rett syndrome by Robust Dosage PCR (RD-PCR).. Human Mutation. 2005
- Developmental absence of maxillary lateral incisors in the Portuguese population. European Journal of Orthodontics. 2005
- Neuroferritinopathy: Missense mutation in FTL causing early-onset bilateral pallidal involvement. Neurology. 2005
- Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea. Neurogenetics. 2005
- Population genetics of wild-type CAG repeats in the Machado-Joseph Disease gene in Portugal. Human Heredity. 2005
- Towards a structural understanding of the fibrillization pathway in Machado-Joseph's disease: Trapping early oligomers of non-expanded ataxin-3. Journal of Molecular Biology. 2005
- Genomic structure, promoter activity, and developmental expression of the mouse homologue of the Machado-Joseph disease (MJD) gene.. Genomics. 2004
- Genotypes at the APOE and SCA2 loci do not predict the course of multiple sclerosis in patients of Portuguese origin. Multiple Sclerosis. 2004
- A whole genome screen for association with multiple sclerosis in Portuguese patients. Journal of Neuroimmunology. 2003
- Genetic interaction of CTLA-4 with HLA-DR15 in multiple sclerosis patients. Annals of Neurology. 2003
- Molecular diagnosis of Huntington disease in Portugal: Implications for genetic counselling and clinical practice. European Journal of Human Genetics. 2003
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