publicações selecionadas
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artigo académico
- Glucocorticoid receptor-dependent therapeutic efficacy of tauroursodeoxycholic acid in preclinical models of Spinocerebellar ataxia type 3. Journal of Clinical Investigation. 2024
- Correction: The Role of the Mammalian DNA End-processing Enzyme Polynucleotide Kinase 3'-Phosphatase in Spinocerebellar Ataxia Type 3 Pathogenesis 2024
- Mitochondrial Dysfunction and Decreased Cytochrome c in Cell and Animal Models of Machado-Joseph Disease. Cells. 2023
- Drug repurposing of dopaminergic drugs to inhibit ataxin-3 aggregation. Biomedicine & Pharmacotherapy. 2023
- Genetic Ablation of Inositol 1,4,5-Trisphosphate Receptor Type 2 (IP3R2) Fails to Modify Disease Progression in a Mouse Model of Spinocerebellar Ataxia Type 3. International Journal of Molecular Sciences. 2023
- Cell-based therapeutic strategies for treatment of spinocerebellar ataxias: an update. Neural Regeneration Research. 2023
- Transition from Animal-Based to Human Induced Pluripotent Stem Cells (iPSCs)-Based Models of Neurodevelopmental Disorders: Opportunities and Challenges. Cells. 2023
- Befiradol treatment ameliorated the motor dysfunction of Spinocerebellar Ataxia Type 3 mouse model. Neuroscience Applied. 2022
- Rare coding variation provides insight into the genetic architecture and phenotypic context of autism. Nature Genetics. 2022
- Cerebellar neuronal dysfunction accompanies early motor symptoms in spinocerebellar ataxia type 3. Disease Models & Mechanisms. 2022
- Experimental modelling of Alzheimer's disease for therapeutic screening. European Journal of Medicinal Chemistry Reports. 2022
- Modifier pathways in Polyglutamine (PolyQ) diseases: from genetic screens to drug targets. Cellular and Molecular Life Sciences. 2022
- MorphData: Automating the data extraction process of morphological features of microglial cells in ImageJ. Journal of Open Research Software. 2022
- New chromene-based compounds as anticancer agents for triple-negative breast cancer therapy. Euroepan Journal of Medicinal Chemistry. 2022
- Novel Machado-Joseph disease-modifying genes and pathways identified by whole-exome sequencing. Neurobiology of Disease. 2022
- Rare coding variation illuminates the allelic architecture, risk genes, cellular expression patterns, and phenotypic context of autism. Nature Genetics. 2022
- Case Report: A Novel GNB1 Mutation Causes Global Developmental Delay With Intellectual Disability and Behavioral Disorders. Frontiers in Neurology. 2021
- IP 3 R2 null mice display a normal acquisition of somatic and neurological development milestones. European Journal of Neuroscience. 2021
- Corrigendum to Neurotoxic effects of MPTP on mouse cerebral cortex: Modulation of neuroinflammation as a neuroprotective strategy¿ [Mol. Cell. Neurosci., Volume 96, April 2019, Pages 1¿9.](S1044743118303907)(10.1016/j.mcn.2019.01.003). Molecular and Cellular Neuroscience. 2021
- Identification of the 5-HT1A serotonin receptor as a novel therapeutic target in a C. elegans model of Machado-Joseph disease. Neurobiology of Disease. 2021
- Leading the way in the nervous system: Lipid Droplets as new players in health and disease. Biochimica et Biophysica Acta (BBA). Molecular and Cell Biology of Lipids. 2021
- Impact of rapeseed pomace extract on markers of oxidative stress and DNA damage in human SH-SY5Y cells. Journal of Food Biochemistry. 2020
- Polyglutamine spinocerebellar ataxias: emerging therapeutic targets. Expert Opinion on Therapeutic Targets. 2020
- In Vivo Molecular Signatures of Cerebellar Pathology in Spinocerebellar Ataxia Type 3. Movement Disorders. 2020
- Transcriptional consequences of MBD5 disruption in mouse brain and CRISPR-derived neurons. Molecular Autism. 2020
- Deficiency in classical nonhomologous end-joining-mediated repair of transcribed genes is linked to SCA3 pathogenesis. Proceedings of the National Academy of Sciences of the United States of America. 2020
- Loss of egli-1, the Caenorhabditis elegans Orthologue of a Downstream Target of SMN, Leads to Abnormalities in Sensorimotor Integration. Molecular Neurobiology. 2020
- Positive allosteric modulation of indoleamine 2,3-dioxygenase 1 restrains neuroinflammation. Proceedings of the National Academy of Sciences of the United States of America. 2020
- Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism. Cell. 2020
- Relevance of Copy Number Variation to Human Genetic Disease. eLS, John Wiley & Sons, Ltd (Ed.). 2018
- Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder. Nature Neuroscience. 2017
- Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications. 2015
- The APOE e2 allele increases the risk of earlier age at onset in Machado-Joseph disease.. Archives of Neurology. 2011
- An Image Processing Application for Quantification of Protein Aggregates in Caenorhabditis Elegans 2011
- Variant Rett syndrome in a girl with a pericentric X-chromosome inversion leading to overexpression of the MECP2 gene. International Journal of Developmental Neuroscience. 2010
- Motor and behavioural abnormalities associated with persistent spontaneous epilepsy in the fvb/n mouse strain. Scandinavian Journal of Laboratory Animal Science. 2010
- Atypical stereotypies and vocal ties in rett syndrome: An illustrative case. Movement Disorders. 2008
- Low Frequency of Heterozygous Deletion and Duplication in the MECP2 gene in Portuguese Patients with Rett Syndrome. Human Mutation. 2005
- Genetics of Rett syndrome: unanswered questions. Rev Neurol. 2004
- Single-tube method for determination of F508del genotype in the CFTR gene using bidirectional PCR amplification of specific alleles.. Biotechniques. 2003
- Inherited and acquired risk factors and their combined effects in pediatric stroke. Pediatric Neurology. 2003
- Identification of three novel polymorphisms in the MJD1 gene and study of their frequency in the Portuguese population.. Journal of Human Genetics. 2002
- Rett's syndrome. Clinical features and advances in genetics | Síndrome de Rett. Características clínicas y avances genéticos.. Revista de Neurologia. 2002
- Ancestral origins of the Machado-Joseph disease mutation: A worldwide haplotype study. American Journal of Human Genetics. 2001
- Improvement in the molecular diagnosis of Machado-Joseph disease. Archives of Neurology. 2001
- The genomic structure and expression of MJD, the Machado-Joseph disease gene. Journal of Human Genetics. 2001
- High germinal instability of the (CTG)(n) at the SCA8 locus of both expanded and normal alleles. American Journal of Human Genetics. 2000
- Study of three intragenic polymorphisms in the Machado-Joseph disease gene (MJD1) in relation to genetic instability of the (CAG)n tract.. European Journal of Human Genetics. 1999
- Analysis of SCA1, DRPLA, MJD, SCA2, and SCA6 CAG repeats in 48 Portuguese Ataxia families. American Journal of Medical Genetics - Neuropsychiatric Genetics. 1998
- Prenatal diagnosis of Machado-Joseph disease by direct mutation analysis. Prenatal Diagnosis. 1998
- Restriction map of a YAC and cosmid contig encompassing the oculopharyngeal muscular dystrophy candidate region on chromosome 14q11.2- q13. Genomics. 1998
- Machado-Joseph disease gene products carrying different carboxyl termini. Neuroscience Research. 1997
- Limits of clinical assessment in the accurate diagnosis of Machado-Joseph disease.. Archives of Neurology. 1996
- A familial factor independent of CAG repeat length influences age at onset of Machado-Joseph disease.. American Journal of Human Genetics. 1996
- Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients. 1996
- Linkage disequilibrium analysis in Machado-Joseph disease patients of different ethnic origins. Human Genetics. 1996
- Mutation detection in Machado-Joseph disease using repeat expansion detection. Molecular Medicine. 1996
- No association between chromosome-18 markers and lithium-responsive affective disorders. Psychiatry Research. 1996
- Correlation between CAG repeat length and clinical features in Machado-Joseph disease. American Journal of Human Genetics. 1995
- Gender equality in Machado-Joseph disease.. Nature Genetics. 1995
- Genetic linkage studies of Machado-Joseph disease with chromosome 14q STRPs in 16 Portuguese-Azorean kindreds. Genomics. 1994
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artigo de conferência
- Assessing the HPA-axis mediated stress responses in a mouse model of SCA3 2023
- FastProtAct - FAST-throughput phenotypic assay to identify compounds with PROTeostasis ACTivity 2023
- Limited Therapeutic Impact of Intermittent Fasting and Ketogenic diets in a Mouse Model of Spinocerebellar Ataxia Type 3 2023
- Serotonergic signaling modulation as a therapeutic approach for spinocerebellar ataxia type 3: unveiling the molecular pathways 2023
- Chemical screening for novel therapeutic target identification in Machado-Joseph disease 2022
- Integration of behavior and neuronal physiology in a mouse model of Rett Syndrome: a focus on serotonergic system modulation 2022
- Preclinical study of a 5-HT1A specific agonist in the CMVMJD135 mouse model of Machado-Joseph disease 2022
- The molecular tweezer CLR01 reduces motor impairments and neuropathology in spinocerebellar ataxia type 3 in vivo models 2022
- The study of depression and cognitive comorbidities in a mouse model of spinocerebellar ataxia type 3 2022
- Neuronal missplicing and imbalance in tau isoform ratio through atxn3 mediated deubiquitylation: implications for disease 2019
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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
- 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
- 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
- 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
- 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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capítulo de livro
- Doenças de expansão de poliglutaminas - o paradigma das doenças de Huntington e de Machado-Joseph 2017
- Molecular Genetics of Intellectual Disability 2012
- Therapeutic strategies for polyQ diseases: from cellular and animal models to the clinic 2012
- Protein misfolding and cell death 2008
- Triplet repeats: features, dynamics and evolutionary mechanisms 2007
- Genetic testing for late-onset disorders: the experience of Machado-Joseph disease in the Azores Islands 2006
- Rett syndrome: Clinical features and advances in Genetics (Spanish) 2005
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documento
- Characterization of the movement disorder phenotype of a mouse model of Down Syndrome 2024
- Novel genetic modifiers of SCA3/MJD: an EMS screening in a C. elegans model of the disease 2024
- Unveiling Promising Compounds for Boosting Proteostasis: A Rapid Whole-Animal Organism Phenotypic Assay 2023
- ATXN3-mediated deubiquitylation of splicing factors regulates neuronal mRNA splicing and tau isoform ratio ATXN3 regulates SRSF7 levels and Tau ratio 2023
- Serotonin as an endogenous regulator of proteostasis: towards mechanism 2023
- Repurposing dopaminergic drugs to prevent Ataxin 3 aggregation 2023
- Biological characterization of novel chromeno[2,3-d]pyrimidinones as therapeutic approach for the treatment of triple-negative Breast Cancer 2023
- Chromene-based molecules: privileged scaffold for oncology drug development 2023
- Development of a cellular ataxin-3 protein-protein interaction (PPI) assay for the screening of PPI modifiers 2023
- The skeletal muscle in SCA3: contribution to disease, potential for biomarker development and therapeutic target 2023
- Synthesis of chromene[2,3-b]pyridines and characterization of their anticancer potential for the treatment of breast cancer 2023
- In vitro and in vivo evaluation of novel chromeno[2,3-d]pyrimidinones as therapeutic agents for triple negative breast cancer 2023
- Avaliação in vitro e in vivo de novos cromeno[2,3-d]pirimidinonas como agentes terapêuticos para o cancro da mama triplo-negativo 2023
- FastProtAct - FAST-throughput phenotypic assay to identify compounds with PROTeostasis ACTivity 2023
- FastProtAct - FAST-throughput phenotypic assay to identify compounds with PROTeostasis ACTivity. 2023
- Serotonergic signaling modulation as a therapeutic approach for spinocerebellar ataxia type 3: unveiling the molecular pathways 2023
- Therapeutical potential of tauroursodeoxycholic acid in stress-related brain pathologies 2023
- Limited Therapeutic Impact of Intermittent Fasting and Ketogenic diets in a Mouse Model of Spinocerebellar Ataxia Type 3 2023
- Therapeutical potential of 5HT1AR agonism on behavioral and neuropathology in a clinically relevant mouse model of Rett syndrome 2023
- The glucocorticoid receptor as a biomarker and neuronal therapeutic target of a disease-improving bile acid in SCA3/MJD 2023
- Unraveling the ATXN3 interactome: clues on its contribution for physiology and disease 2023
- Identification of novel molecules with proteostasis enhancement activity using a whole-animal based fast-throughput phenotypic assay 2023
- Voluntary exercise improves balance and fine motor coordination of a transgenic mouse model of Machado-Joseph disease 2023
- Assessing the HPA-axis mediated stress responses in a mouse model of SCA3 2023
- 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
- CLR01, a molecular tweezer, attenuates motor dysfunction and pathology in SCA3 in vivo models 2022
- Citalopram/escitalopram for disease modification in Spinocerebellar ataxia type 3 patients: ready for translation 2022
- Limited Therapeutic Impact of Intermittent Fasting and Ketogenic diets in a Mouse Model of Spinocerebellar Ataxia Type 3 2022
- Motor coordination and balance ameliorated after treatment of the CMVMJD135 mouse model of Spinocerebellar Ataxia Type 3 with befiradol 2022
- Multi-modal analyses converge on the 5-HT1A serotonin receptor and CREB signaling as promising therapeutic targets for SCA3 2022
- Neuroprotective effect of a Hemerocallis citrina extract in a C. elegans model of Machado-Joseph disease 2022
- Neuroprotective effect of a Hemerocallis citrina extract in a C. elegans model of Machado-Joseph disease. 2022
- Novel genetic modifiers of SCA3/MJD: an EMS screening in a C. elegans model of the disease 2022
- Understanding the relevance of the cerebellar cognitive affective syndrome in SCA3 mice 2022
- Chemical screening for novel therapeutic target identification in Machado-Joseph disease 2022
- Befiradol treatment ameliorated the motor dysfunction of Spinocerebellar Ataxia Type 3 mouse model 2022
- Preclinical study of a 5-HT1A receptor specific agonist in the CMVMJD135 mouse model of Machado-Joseph disease. 2022
- The study of depression and cognitive comorbidities in a mouse model of spinocerebellar ataxia type 3 2022
- Integration of behavior and neuronal physiology in a mouse model of Rett Syndrome: a focus on serotonergic system modulation 2022
- Preclinical study of a 5-HT1A specific agonist in the CMVMJD135 mouse model of Machado-Joseph disease 2022
- Nuclear ATXN3 DUB Physiological Substrates: Towards Understanding Their Role In The Context Of Machado-Joseph Disease 2022
- Pre and post-symptomatic treatment with NLX-112 improved the balance and motor coordination of the CMVMJD135 mouse model of Machado-Joseph Disease 2022
- Stress resilience in SCA3: study of depression and cognitive comorbidities in a mouse model 2022
- Role of the ubiquitin hydrolase ATXN3 in glioblastoma: a new tumor suppressor gene? 2022
- Development of a high-throughput phenotypic assay to screen for chemical enhancers of proteostasis activity in Caenorhabditis elegans 2022
- Digital Ventilated Cages (DVC) as a tool for the study of Machado-Joseph Disease: Influence of physical exercise on established motor dysfunction in transgenic MJD mice 2022
- Preclinical study of a 5-HT1A receptor specific agonist in the CMVMJD135 mouse model of Machado-Joseph disease 2022
- The molecular tweezer CLR01 reduces motor impairments and neuropathology in spinocerebellar ataxia type 3 in vivo models 2022
- Can chronic activation of serotonergic signalling be atherapeutic approach for neurodegenerative diseases? 2021
- Development of a cellular ATXN3 protein-protein interaction (PPI) assay for high-throughput screening of PPI modifiers 2021
- Developmentof a high-throughput phenotypic assay to screen for chemical enhancers of proteostasis activity in Caenorhabditis elegans 2021
- Integration of behavior and neuronal physiology in a mouse model of Rett Syndrome: a focus on serotonergic system modulation 2021
- NLX-112 improved the motor coordination and balance in a Mouse Experimental Model of Machado-Joseph Disease 2021
- Suppression of proteotoxic stress by serotonergic signaling 2021
- Does activation of serotonergic treatment suppressproteotoxicity in mouse models of neurodegenerative diseases? 2021
- A comprehensive characterization of the cerebellar (dys)fucntion in Spinocerebellar Ataxia Type 3 2021
- A new lead compound for triple negative breast cancer therapy 2021
- MorphData: Automating the data extraction process of morphological features of microglial cells in ImageJ 2021
- A new therapeutic option for triple negative breast cancer 2021
- Glucocorticoid receptor dysfunction as a SCA3/MJD biomarker and target for bile acid therapy 2021
- Testing the Therapeutic Potential of Mesenchymal Stem Cells and Their Secretome in an Animal Model of Spinocerebellar Ataxia Type 3 2021
- Serotonergic Signalling Activation as a Therapeutic Approach for Neurodegenerative Disorders 2021
- Serotonergic Signalling Activation as a Therapeutic Approach for Neurodegenerative Diseases 2021
- Suppression of proteotoxicity by serotonin signaling 2021
- Towards the molecular determinants of serotonergic signaling-mediated suppression of SCA3 pathogenesis 2021
- Cerebellar neuronal dysfunction accompanies early motor symptoms in Spinocerebellar Ataxia Type 3 and is partially alleviated upon chronic citalopram treatment 2021
- Neuroprotective effects of Hemerocallis citrina extracts in Caenorhabditis elegans models of neurodegenerative diseases 2021
- Pterospartum tridentatum: phytochemical profile and antioxidant activity of methanolic extracts. 2021
- Neuroprotective and antioxidant effects of Maranta arundinacea and Porophyllum ruderale extracts in Caenorhabditis elegans. 2021
- "A odisseia das doenças raras" (Opinion article) 2021
- Do MJD mice present a cerebellar cognitive affective syndrome? 2021
- Aripiprazole Offsets Mutant ATXN3-Induced Motor Dysfunction by Targeting Dopamine D2 and Serotonin 1A and 2A Receptors in C. elegans 2021
- Neuronal communication in Spinocerebellar Ataxia Type 3: a longitudinal characterization of the synapse 2020
- Impact of astrocytic calcium suppression in the pathogenesis of Machado-Joseph disease 2020
- Disease-modifying therapies for SCA3: lessons from preclinical trials 2019
- Identification of novel genetic modifiers of Machado-Joseph Disease (MJD/SCA3) using whole-exome sequencing. 2019
- Identification of novel genetic modifiers of machado-joseph disease (MJD/SCA3) using whole-exome sequencing 2019
- Impact of astrocytic calcium suppression in the pathogenesis of Machado Joseph disease 2019
- Pre-clinical assessment of Mesenchymal Stem cell-based therapies in Spinocerebellar ataxia type 3 2019
- Serotonergic signaling activation suppresses proteotoxicity 2019
- Targeting of serotonin (1A) receptor supresses mutant ataxin-3pathogenesis in C. elegans 2019
- Neuroprotective and antioxidant effects of Maranta arundinacea and Porophyllum ruderale in Caenorhabditis elegans. 2019
- A Glucorticoid receptor-dependent mechanism of bile acid action with therapeutic impact in polyglutamine disease 2019
- Regulation of neuronal mRNA splicing and Tau isoform ratio by ATXN3 through deubiquitylation of splicing factors. 2019
- Microglial and astrocytic pathology in a mouse model of Machado-Joseph disease 2019
- NLX-112, a novel 5-HT1A receptor agonist, suppresses pathogenesis of mutant ATXN3 in C. elegans 2019
- Serotonergic signaling modulation of protein homeostasis in C. elegans expressing firefly luciferase 2019
- In vitro and in vivo evaluation of new chromene derivatives as potent anticancer agents 2019
- Finding molecular determinants supporting serotonergic modulation as a therapeutic approach in Machado Joseph Disease 2019
- Anti-aging genetic manipulation in C. elegans impact differentially in Machado-Joseph disease 2019
- FERMT2, um novo gene de epilepsia 2019
- NLX-112, a novel 5-HT1A receptor agonist, suppresses neuronal dysfunction in a C. elegans model of Spinocerebellar Ataxia 2019
- NLX-112, a novel 5-HT1A receptoragonist, suppresses pathogenesis of mutant ATXN3 in C. elegans 2019
- Suppression of proteotoxicity by serotonergic signaling activation 2019
- Using luciferase mutants to study the impact of serotonergic signaling modulation of proteostasis in C. elegans 2019
- Testing the therapeutic potential of mesenchymal stem cells and their secretome in an animal model of SCA3 2019
- Regulation of neuronal mRNA splicing and Tau isoform by ATXN3 in Spinocerebellar Ataxia Type-3 transgenic mice and patients. 2019
- Pre-clinical study of mesenchymal stem cells transplantation and their secretome administration in an animal model of Spinocerebellar ataxia type 3 2019
- Early modulation of serotonergic signaling suppresses aggregation in Spinocerebellar Ataxia 3 2019
- NLX-112, a novel 5-HT1A receptor agonist, supresses neuronal dysfunction in a C. elegans model of Spinocerebellar Ataxia 2019
- Neuroprotective and antioxidant effects of Maranta arundinacea and Porophyllum ruderale in Caenorhabditis elegans 2019
- Preclinical evidence supporting serotonergic modulation as a therapeutic approach for Spinocerebellar Ataxia 3 2019
- Regulation of neuronal mRNA splicing and of Tau isoforms ratio by ATXN3 through deubiquitylation of splicing factors 2019
- Study of Cerebellar circuits (dys)function in Spinocerebellar Ataxia type 3 2019
- Targeting of the Serotonin (1A) Receptor Suppresses Mutant Ataxin-3 Pathogenesis in C. elegans 2019
- The Joseph and Machado lineages and their sublineages in families with Machado-Joseph disease spread worldwide 2019
- Antioxidant and neuroprotective effects of Hyptis suaveolens, Hyptis pectinata and Hyptis marrubioides in Caenorhabditis elegans 2018
- Finding molecular determinants supporting serotonergic modulation as a therapeutic approach in Machado-Joseph disease 2018
- Functional analysis of UPS genes linked to developmental disorders, in C. elegans 2018
- Genetic and pharmacological modifiers of ATXN3 proteotoxicity converge to antioxidant response pathways 2018
- Preclinical evidence supporting early initiation of citalopram treatment in Machado-Joseph disease 2018
- Preclinical evidence supporting early initiation of citalopram treatment in Machado-Joseph disease: findings in two mouse models 2018
- Targeting the Intracellular Localization of Ataxin-3 as Novel Treatment Strategy for Spinocerebellar Ataxia Type 3 2018
- Testing the Therapeutic Potential of Mesenchymal Stem Cells and Their Secretome in an Animal Model of Spinocerebellar Ataxia Type 3 2018
- Utilization of Rapeseed Pomace (RSP) Extracts in the Prevention of Neurological Impairment in a C. elegans Model of Machado-Joseph Disease (MJD) 2018
- Segregation patterns of CAG repeats in the MJD locus: a study in normal families from the Azores Islands (Portugal) 2017
- Macromolecular interactions and posttranslational modifications acting as Machado-Joseph Disease modifiers 2017
- ATXN3 modulates mRNA splicing of Tau and other neuronal genes through ubiquitylation of splicing factors 2017
- Beneficial effect of creatine-supplemented diet in a mouse model of Machado-Joseph disease 2017
- Citalopram reduces aggregation of ATXN3 in a YAC transgenic mouse model of Machado- Joseph disease 2017
- Contribution of glial cells for the pathogenesis of Machado-Joseph disease 2017
- Further Delineation of a novel 2q11.1q11.2 Microduplication syndrome 2017
- Genetic anti-aging manipulations differentially modify disease manifestations and protein aggregation in a Caernohabditis elegans model of Machado-Joseph disease 2017
- Lifespan-increasing genetic mutations differentially modify disease progression in a Caernohabditis elegans model of Machado-Joseph disease 2017
- Machado-Joseph disease models exhibit compromised mitochondrial function and dynamics 2017
- Monogenic disorders associated with ASD in a large Portuguese sample 2017
- Revalorisation of rapeseed pomace extract: a study into its anti-oxidant, DNA protective properties (in vitro) and effects in neurodegenerative disease C. elegans models 2017
- Serotonergic modulation of the proteostasis network and glutamatergic neurotransmission: impact on MJD 2017
- Serotonergic signaling suppresses ataxin-3 proteotoxicity 2017
- Skeletal muscle dysfunction during the disease progression in a mouse model of SCA3 2017
- The “rarification” of common diseases 2017
- Transgenic mouse models of Machado-Joseph disease show cerebellar neurochemical profiles similar to that of patients 2017
- A whole organism screen identifies serotonergic signaling as modulator of Machado-Joseph disease pathogenesis 2014
- Dominant negative effect of polyglutamine expansion perturbs normal function of ataxin-3 in neuronal cells 2014
- Lithium chloride therapy fails to improve motor function in a transgenic mouse model of Machado-Joseph disease 2014
- A whole organism screen identifies serotonergic signaling as modulator of Machado-Joseph disease pathogenesis 2013
- Ataxin-3 deubiquitylase contributes to neuronal differentiation through the modulation of alfa-5 integrin levels 2013
- Creatine food supplementation improves the motor phenotype of a transgenic mouse model of Machado-Joseph disease 2013
- 17-DMAG induces autophagy and delays disease progression of the motor phenotype and neuropathology in a new transgenic mouse model of Machado-Joseph disease 2013
- Loss of function of the deubiquitylase Ataxin-3 affects differentiation, proliferation and cytoskeletal organization in neuronal cells through the modulation of alfa-5 integrin subunit levels 2013
- 17-DMAG induces autophagy and delays disease progression in a mouse model of Machado-Joseph disease 2013
- 6q25.3 deletion encompassing ARID1B in a patient with intellectual disability and aggressive behavior 2013
- Autophagy induction as a therapeutic target for Machado-Joseph disease: 17-DMAG and lithium chloride 2013
- Citalopram as a candidate therapeutic agent for Machado-Joseph Disease 2013
- Loss of function of the deubiquitylase Ataxin-3 reduces alfa-5 integrin subunit levels and leads to abnormal neuronal differentiation process 2013
- Overexpression of wild-type, expanded and catalytically inert ATXN3 in neuroblastoma cell lines: effects on cytoskeleton organization and cell adhesion 2013
- 17-DMAG, an Hsp90 inhibitor, improves the motor phenotype and neuropathology of a transgenic mouse model of Machado-Joseph disease 2013
- Stable silencing of Ataxin-3 leads to abnormal differentiation in neuronal cells 2013
- 17-DMAG and Valproic acid improve the phenotype of a new transgenic mouse model of Machado-Joseph disease 2012
- 17-DMAG, an Hsp90 inhibitor, improves the motor phenotype and neuropathology of a transgenic mouse model of Machado-Joseph disease 2012
- 7q33 deletion in a family with intellectual disability, dysmorphic features and behavioral changes 2012
- Identification of candidate therapeutic compounds for Machado-Joseph disease in C. elegans 2012
- Whole exome sequencing in patients with a Rett-like phenotype 2012
- Searching for therapeutic compounds in a C. elegans model of Machado-Joseph disease 2012
- 17-DMAG, an Hsp90 inhibitor, improves the phenotype of a transgenic mouse model of Machado-Joseph disease 2012
- Lithium treatment does not ameliorate the phenotype of a new transgenic mouse model of Machado-Joseph disease 2012
- Adding to the non-consensual phenotype of 1q43-q44 deletions: a case with AKT3 deletion 2011
- Bioinformatic approaches for the identification of key cognition genes in large genomic imbalances detected by aCGH 2011
- Impact of aging-related pathways in mutant ataxin-3-mediated pathogenesis 2011
- A novel transgenic mouse model of Machado-Joseph disease: genetic, phenotypic and pathologic similarities with the human disease 2011
- intellectual disability: searching for the key cognition genes 2011
- New genomic imbalances detected by aCGH in patients with intellectual disability: searching for the key cognition genes 2011
- Modeling MJD in C. elegans: genetic and pharmacological rescue 2011
- MtDNA dysfunction in a transgenic mouse model of Machado-Joseph Disease (MJD) 2011
- Neuron-specific proteotoxicity of mutant ataxin-3 in C. elegans: rescue by DAF-16 and HSF-1 pathways 2011
- New microdeletion/microduplications detected by aCGH in patients with intelectual disability: seacrh for the key genes 2011
- Whole genome copy number variation analysis in a family with idiopathic generalized epilepsy 2011
- 5’ Regulatory Regions of Machado-Joseph Disease Gene (ATXN3): Sequence Analysis in Patients and Controls 2010
- A novel transgenic mouse of Machado-Joseph disease: autophagy as a potential therapeutical approach 2010
- Variation in the age at onset of Machado-Joseph disease: the influence of the APOE polymorphism 2010
- "CUL4B gene duplication in a portuguese patient with intelectual disability detected by aCGH and qPCR" 2010
- A frameshift mutation in Polyglutamine Binding Protein 1 (PQBP1) gene in a Portuguese patient with X-linked mental retardation 2010
- FOXL2 mutations: from 1 base pair to 10 Megabase 2010
- Genetic and pharmacologic modulation of the HSF-1 pathway rescues neuronal proteotoxicity in a C. elegans model of Machado-Joseph disease 2010
- Phenotypic characterization of isu-1 knockdown animals 2010
- Small 3q29 microduplication covering the genes KIAA0226 and MIR922 in a girl with severe obesity, intelectual disability and microcephaly 2010
- Identification of a dinucleotide deletion in the Polyglutamine Binding Protein 1 (PQBP1) gene causing syndromic mental retardation in a male patient and epilepsy in his heterozygous mother 2010
- aCGH analysis of Portuguese patients with idiopathic mental retardation 2010
- Absence of ataxin-3 leads to enhanced stress response in C. elegans 2010
- CAG tract length modulates the severity of symptoms in a transgenic mouse model of MJD/SCA3 2010
- Aging, Genetic background and parental gender modulate the CAG repeat instability pattern in a transgenic mouse model of Machado-Joseph disease 2010
- Contributions of alternative splicing to transcript diversity: novel variants of Machado-Joseph Disease gene (ATXN3) 2010
- Identification of an exonic deletion in the Polyglutamine Binding Protein 1 (PQBP1) gene causing syndromic mental retardation in a male patient and epilepsy in his heterozygous mother 2010
- Increased thermotolerance and hormesis in the absence of ataxin-3 in C. elegans 2010
- Modeling Machado-Joseph disease in Caenorhabditis elegans 2010
- Molecular determinants of ataxin-3 knockouts thermoresistance phenotype 2010
- No evidence for apoptosis or necrosis in spite of neurodegeneration in a transgenic mouse model of MJD/SCA3 2010
- . Increased thermotolerance and hormesis in the absence of ataxin-3 in C. elegans 2010
- Ataxin-3 is a microtubule-associated protein with a role in cytoskeletal organization 2010
- Ataxin-3 plays a role in mouse myogenic differentiation through regulation of integrin subunit levels 2010
- Opposing effects of distinct aging-related pathways in a pan-neuronal C. elegans model of Machado-Joseph disease 2010
- Sequence Analysis of 5’ Regulatory Regions of Machado-Joseph Disease Gene (ATXN3) in Patients and Controls 2010
- Age- and region-specific analysis of monoaminergic systems in the brain of Mecp2-null mice implies the prefrontal and motor cortices in the earliest stages of disease 2009
- Ataxin-3 protein context and cell-specific factors modulate polyQ-mediated neuronal aggregation in a C. elegans model of Machado-Joseph disease 2009
- Genotype-Phenotype correlation in a transgenic mouse model of Machado-Joseph disease 2009
- Retrospective study of risk factors for pediatric stroke 2009
- Aging, genetic background and parental gender modulate the CAG repeat instability pattern in a transgenic mouse model of Machado-Joseph disease 2009
- Ataxin-3 plays a role in myogenic differentiation through regulation of integrin subunits 2009
- Ataxin-3, UBXN-5 and CDC-48: a new trimolecular complex in C. elegans 2009
- CAG-dependent motor phenotype in a transgenic mouse model of Machado-Joseph disease 2009
- Increased thermotolerace and hormesis in the absence of ataxin-3 in C. elegans 2009
- Novel Splicing Variants of Machado-Joseph Disease Gene (ATXN3) 2009
- Novel ataxin-3 isoforms predicted from alternative splicing variants 2009
- Ataxin-3: a role in the SCF complex? 2009
- CDKL5 mutation screening in Rett-like Portuguese patients negative for MECP2 mutations 2009
- Absence of ataxin-3 leads to increased thermotolerance and hormesis in C. elegans 2008
- Sizing of the (CAG)n tract of Machado-Joseph disease gene (ATXN3): from DNA to mRNA 2008
- ATX-3, CDC-48 and UBXN-5: a new molecular complex in C. elegans 2008
- Absence of MeCP2 increases postnatal dentate gyrus cell proliferation in a mouse model of Rett syndrome 2008
- Age- and region-specific disturbances of monoaminergic systems in the brain of MECP2-null mice 2008
- Ataxin-3: a deubiquitinating role in myogenic differentiation through UPS regulation of alpha-5 integrin subunit 2008
- Ataxin-3: a role in the SCF complex? 2008
- Delayed achievement of developmental milestones in a mouse model of Rett syndrome 2008
- Genetic interaction between Machado-Joseph disease mutant gene and the heat shock response machinery 2008
- In vivo dynamics of human ataxin-3 aggregation and neurotoxicity in C. elegans neuronal cells is modulated by Q-length and age 2008
- Motor impairment and brain pathology in a transgenic mouse model of Machado-Joseph disease 2008
- Motor impairment and behavioral abnormalities associated with installed spontaneous epilepsy in the FVB/N mouse strain: correlation with neuropathology 2007
- A new transgenic mouse model of Machado-Joseph disease presenting motor impairment and brain pathology 2007
- In vivo ataxin-3 aggregation dynamics in C. elegans neurons 2007
- Motor and behavioural abnormalities associated with installed spontaneous epilepsy in the FVB/N mouse strain 2007
- Motor phenotype and brain pathology in a transgenic mouse model of Machado-Joseph disease 2007
- Segregation ratio distortion and population distribution of wild-type MJD alleles: a study in Azorean families 2007
- Genetic interaction between Machado-Joseph disease mutant gene and age-related cellular quality control mechanisms 2007
- Geschwind DH. Knockdown of Isu1 ortholog causes larval arrest, decreased life span and brood size, and developmental abnormalities in C. elegans 2007
- Huntington disease and Huntington disease-like phenotype: 9 years of diagnosis experience 2007
- In vivo dynamics of ataxin-3 aggregation in C. elegans neurons 2007
- Insights into ageing-modulation of in vivo dynamics of ataxin-3 aggregation in C. elegans neurons 2007
- Learning the biochemical basis of axonal migration: use of Caenorhabditis elegans as a model 2007
- Mjd: a stress-responsive gene? 2007
- Neurodevelopmental impact of stress in early post-natal period 2007
- Ataxin-3 and NEDD8: identification and characterization of a new interaction 2006
- Increased cell proliferation in the hippocampus of Mecp2-null mice 2006
- Absence of ataxin-3 causes transcriptomic de-regulation of the ubiquitin-proteasome pathway, signal transduction, transcription regulation, and cell-structure/motility genes in C.elegans 2006
- Analysis of the 3’ UTR of the MECP2 gene in patients with clinical diagnosis of Rett syndrome and mental retardation 2006
- CAG repeat instability and motor deficit in a transgenic mouse model of Machado-Joseph disease 2006
- Characterization of the ubiquitin hydrolase activity of mouse ataxin-3 and of its subcellular localization in skeletal muscle 2006
- Genetic study of boys with a Rett syndrome-like phenotype: analysis of the MECP2, NLGN3 and NLGN4 genes 2006
- In vivo imaging of ataxin-3 aggregation dynamics in C. elegans neurons 2006
- Motor coordination impairment in a transgenic mouse model of Machado-Joseph disease 2006
- Pathological ataxin-3 misfolding in C. elegans 2006
- Pathological ataxin-3 misfolding in C. elegans neurons 2006
- Polymorphisms of the toll-like receptors and susceptibility to fungal infections in haploidentical haematopoietic transplantation 2006
- Somatic and intergenerational instability of expanded CAG repeat in a transgenic mouse model of Machado-Joseph disease 2006
- Subcellular localization of mouse ataxin-3, the protein responsible for Machado-Joseph disease 2006
- The Machado-Joseph disease protein ataxin-3 interacts with NEDD8 2006
- Genetic study of boys with a Rett syndrome-like phenotype: analysis of the MECP2, NLGN3 and NLGN4 genes 2005
- Rett syndrome-like male patients: study of the MECP2, NLGN3 and NLGN4 genes 2005
- Study of postnatal neurodevelopmental hallmarks in a mouse model of Rett syndrome 2005
- Population Genetics of Wild-Type CAG Repeats in the Machado-Joseph Disease (MJD) Gene in Portugal 2005
- Delayed achievement of developmental milestones in a mouse model of Rett syndrome 2005
- Expression of expanded ataxin-3 sensitizes cells to NP-3 inhibition 2005
- Nucleocytoplasmic shuttling of ataxin-3 2005
- Somatic and intergenerational instability of expanded CAG repeat in a transgenic mouse model of Machado-Joseph disease 2005
- Study of the mouse homologue of the Machado–Joseph disease (MJD) gene 2005
- Using Caenorhabditis elegans as a model for learning the biochemical basis of axon guidance 2005
- Genotype-phenotype correlations in Portuguese patients with Rett syndrome 2004
- Male patients with Rett-like phenotype do not present mutations in the MECP2, NLGN3 and NLGN4 genes 2004
- Male patients with Rett syndrome-like phenotype do not present mutations in the MECP2, NLGN3 and NLGN4 genes 2004
- . An integrated system-based approach of learning objectives in the medical degree course of the University of Minho: “Organic and Functional Systems” 2004
- A mutation in the ATP1A2 gene in a large family with migraine without aura 2004
- A nonsense mutation in the thyroid transcription factor-1 (TITF-1) in two patients with benign hereditary chorea 2004
- Amyloid-like properties of non-expanded (14Q) human ataxin-3 oligomers 2004
- Exclusion of repeat expansions on the HDL1, HDL2, TBP, DRPLA, CBP and POU3F2 genes in 111 Huntington disease-like patients of portuguese origin 2004
- Increased susceptibility to 3-nitropropionic acid in HEK cells expressing mutant ataxin-3 2004
- Iron metabolism and neurodegeneration: missense mutation in the ferritin light polypeptide gene (FTL) associated with early-onset bilateral pallidal degeneration 2004
- Learning the biochemical basis of axonal migration: use of Caenorhabditis elegans as a model 2004
- MECP2 variation in Portuguese autistic patients 2004
- Self-interaction of ataxin-3, the protein that aggregates in Machado-Joseph disease 2004
- Study of the Ferritin light Polypeptide (FTL) gene, including the cis-acting Iron-Responsive Element (IRE), in Portuguese patients with Huntington-like symptoms 2004
- Variação do gene MECP2 numa população portuguesa de pacientes autistas 2004
- A case-control study reveals no association of the C677T MTHFR polymorphism with migraine in the Portuguese population. 2003
- The C677T MTHFR polymorphism is not a genetic risk factor for migraine in the Portuguese population 2003
- Rastreio do genoma e identificação de loci associados à esclerose múltipla em doentes Portugueses 2002
- Susceptibilidade e progressão da esclerose múltipla em doentes Portugueses – estudo do papel dos loci APOE e SCA2 2002
- Association study of multiple sclerosis in Portuguese patients: whole genome screen using 6,000 microsatellite markers 2002
- Genomic structure, promoter activity and developmental expression of the mouse homologue of the Machado-Joseph disease gene 2002
- Retrospective study of genetic risk factors in 22 cases of paediatric stroke 2002
- Susceptibility and disease progression in Portuguese patients with multiple sclerosis: study of the role of APOE and SCA2 loci 2002
- Study of the normal CAG tract at the Huntington disease locus in the Portuguese population 2002
- Susceptibility and disease progression in Portuguese patients with multiple sclerosis - study of the role of APOE and SCA2 loci 2002
- Study of the APOE and SCA2 loci in multiple sclerosis patients of Portuguese origin 2002
- Candidate gene studies in Portuguese patients 2002
- Estudo Clínico, Epidemiológico e Genético da Síndrome de Rett em Portugal 2001
- High frequency of intermediate alleles in the Huntington’s disease locus in a large Portuguese control population 2001
- Identification of 3 new intragenic polymorphisms in the MJD1 gene and study of its frequency in the portuguese population 2001
- Identification of three novel polymorphisms in the MJD1 gene and their frequency study in a Portuguese population 2001
- Identificação de três novos polimorfismos intragénicos no gene MJD1 e estudo da sua frequência numa população Portuguesa 2001
- Huntington´s disease in Portugal: molecular diagnosis, genetic counselling and investigation on genetic heterogeneity 2001
- Aperfeiçoamento do método de diagnóstico molecular da Doença de Machado-Joseph 2000
- Genetic risk factors in pediatric ischemic stroke – a retrospective study 2000
- Improvement of the method for molecular diagnosis of Machado-Joseph disease 2000
- de Risco Genético para o Acidente Vascular Cerebral pediátrico – estudo retrospectivo 2000
- Absence of intermediate alleles and high frequency of homoallelism at the MJD1 (Machado-Joseph) locus in a large control sample from the Portuguese population 2000
- Identification of a new intragenic polymorphism (C1178/A1178) in the MJD1 gene and its study in a Portuguese population: application to predictive and diagnostic testing in Machado-Joseph disease 2000
- 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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