Lista de obras - Patricia Maciel - Dominio Público Uruguay

A familial factor independent of CAG repeat length influences age at onset of Machado-Joseph disease

artículo científico publicado en 1996

A novel microduplication of ARID1B: Clinical, genetic, and proteomic findings

artículo científico publicado en 2017

A whole genome screen for association with multiple sclerosis in Portuguese patients

artículo científico publicado en 2003

APOE epsilon variation in multiple sclerosis susceptibility and disease severity: some answers

artículo científico publicado en 2006

ATX-3, CDC-48 and UBXN-5: A new trimolecular complex in Caenorhabditis elegans

artículo científico publicado en 2009

Abnormal movements in Rett syndrome are present before the regression period: a case study

artículo científico publicado en 2007

Absence of ataxin-3 leads to cytoskeletal disorganization and increased cell death

artículo científico publicado en 2010

Absence of ataxin-3 leads to enhanced stress response in C. elegans

artículo científico publicado en 2011

Altered striatal endocannabinoid signaling in a transgenic mouse model of spinocerebellar ataxia type-3.

artículo científico publicado en 2017

An Image Processing Application for Quantification of Protein Aggregates in Caenorhabditis Elegans

An explanation for another familial case of Rett syndrome: maternal germline mosaicism

artículo científico publicado en 2007

Analysis of SCA1, DRPLA, MJD, SCA2, and SCA6 CAG repeats in 48 Portuguese ataxia families.

artículo científico publicado en 1998

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.

scientific article published on January 2008

Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study

artículo científico publicado en 2000

Ataxin-3 plays a role in mouse myogenic differentiation through regulation of integrin subunit levels

artículo científico publicado en 2010

Atypical stereotypies and vocal tics in Rett syndrome: An illustrative case

artículo científico publicado en 2008

Chromatin remodeling and neuronal function: exciting links

artículo científico publicado en 2006

Chronic treatment with 17-DMAG improves balance and coordination in a new mouse model of Machado-Joseph disease

artículo científico publicado en 2014

Citalopram Reduces Aggregation of ATXN3 in a YAC Transgenic Mouse Model of Machado-Joseph Disease

scientific article published on 04 September 2018

Combined therapy with m-TOR-dependent and -independent autophagy inducers causes neurotoxicity in a mouse model of Machado-Joseph disease

artículo científico publicado en 2015

Correlation between CAG repeat length and clinical features in Machado-Joseph disease ⬇️

artículo científico publicado el 1 de julio de 1995

Deficiency in classical nonhomologous end-joining-mediated repair of transcribed genes is linked to SCA3 pathogenesis

artículo científico publicado en 2020

Detection of heterozygous deletions and duplications in the MECP2 gene in Rett syndrome by Robust Dosage PCR (RD-PCR).

artículo científico publicado en 2005

Developmental absence of maxillary lateral incisors in the Portuguese population

artículo científico publicado en 2005

Developmental disturbances associated with agenesis of the permanent maxillary lateral incisor

artículo científico publicado en 2009

Differential mtDNA damage patterns in a transgenic mouse model of Machado-Joseph disease (MJD/SCA3).

artículo científico publicado en 2014

Discovery of Therapeutic Approaches for Polyglutamine Diseases: A Summary of Recent Efforts

artículo científico publicado en 2016

Dominant negative effect of polyglutamine expansion perturbs normal function of ataxin-3 in neuronal cells

artículo científico publicado en 2014

Dysregulation of the endocannabinoid signaling system in the cerebellum and brainstem in a transgenic mouse model of spinocerebellar ataxia type-3.

artículo científico publicado en 2016

Evaluation of CSF neurotransmitters and folate in 25 patients with Rett disorder and effects of treatment

artículo científico publicado en 2008

Evidence for abnormal early development in a mouse model of Rett syndrome.

artículo científico publicado en 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

artículo científico publicado en 2006

Familial aggregation of maxillary lateral incisor agenesis

artículo científico publicado en 2010

Functional genomics and biochemical characterization of the C. elegans orthologue of the Machado-Joseph disease protein ataxin-3.

artículo científico publicado en 2007

Gender equality in Machado–Joseph disease

Genetic Linkage Studies of Machado-Joseph Disease with Chromosome 14q STRPs in 16 Portuguese-Azorean Kindreds

article

Genetic interaction of CTLA-4 with HLA-DR15 in multiple sclerosis patients

artículo científico publicado en 2003

Genomic imbalances defining novel intellectual disability associated loci

artículo científico publicado en 2019

Genomic structure, promoter activity, and developmental expression of the mouse homologue of the Machado-Joseph disease (MJD) gene

artículo científico publicado en 2004

Genotypes at the APOE and SCA2 loci do not predict the course of multiple sclerosis in patients of Portuguese origin

artículo científico publicado en 2004

High germinal instability of the (CTG)n at the SCA8 locus of both expanded and normal alleles

artículo científico publicado en 2000

IP3 R2 null mice display a normal acquisition of somatic and neurological development milestones

scientific article published on 12 March 2020

Identification of novel genetic causes of Rett syndrome-like phenotypes

artículo científico publicado en 2016

Identification of rare de novo epigenetic variations in congenital disorders.

artículo científico publicado en 2018

Identification of three novel polymorphisms in the MJD1 gene and study of their frequency in the Portuguese population

artículo científico publicado en 2002

Impact of rapeseed pomace extract on markers of oxidative stress and DNA damage in human SH-SY5Y cells

artículo científico publicado en 2020

Improvement in the Molecular Diagnosis of Machado-Joseph Disease ⬇️

artículo científico publicado el 1 de noviembre de 2001

Inactivation of PNKP by mutant ATXN3 triggers apoptosis by activating the DNA damage-response pathway in SCA3

artículo científico publicado en 2015

Increased transcript diversity: novel splicing variants of Machado-Joseph disease gene (ATXN3).

artículo científico publicado en 2009

Inherited and acquired risk factors and their combined effects in pediatric stroke

artículo científico publicado en 2003

Institutionalization and indiscriminate social behavior: Differential-susceptibility versus diathesis-stress models for the 5-HTTLPR and BDNF genotypes.

artículo científico publicado en 2015

Limited Effect of Chronic Valproic Acid Treatment in a Mouse Model of Machado-Joseph Disease

artículo científico publicado en 2015

Limits of clinical assessment in the accurate diagnosis of Machado-Joseph disease

artículo científico publicado en 1996

Linkage disequilibrium analysis in Machado-Joseph disease patients of different ethnic origins

article

Linkage disequilibrium screening for multiple sclerosis implicates JAG1 and POU2AF1 as susceptibility genes in Europeans

artículo científico publicado en 2006

Lithium chloride therapy fails to improve motor function in a transgenic mouse model of Machado-Joseph disease

artículo científico publicado en 2014

Loss of egli-1, the Caenorhabditis elegans Orthologue of a Downstream Target of SMN, Leads to Abnormalities in Sensorimotor Integration

scientific article published on 03 December 2019

MECP2 coding sequence and 3'UTR variation in 172 unrelated autistic patients

artículo científico publicado en 2007

Machado-Joseph disease gene products carrying different carboxyl termini

artículo científico publicado en 1997

Molecular diagnosis of Huntington disease in Portugal: implications for genetic counselling and clinical practice

artículo científico publicado en 2003

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

artículo científico publicado en 2010

Mosaicism of the CAG repeat in CNS tissue in relation to age at death in spinocerebellar ataxia type 1 and Machado-Joseph disease patients.

artículo científico publicado en 1997

Motor uncoordination and neuropathology in a transgenic mouse model of Machado-Joseph disease lacking intranuclear inclusions and ataxin-3 cleavage products

artículo científico publicado en 2010

Movement disorders in Rett syndrome: An analysis of 60 patients with detected MECP2 mutation and correlation with mutation type

article

Mutation detection in Machado-Joseph disease using repeat expansion detection

artículo científico publicado en 1996

Mutational analysis of MSX1 and PAX9 genes in Portuguese families with maxillary lateral incisor agenesis

artículo científico publicado en 2010

Mutations in the MECP2 gene are not a major cause of Rett syndrome-like or related neurodevelopmental phenotype in male patients

artículo científico publicado en 2009

NEDD8: A new ataxin-3 interactor

scientific article published on 24 August 2007

Neurodevelopment milestone abnormalities in rats exposed to stress in early life.

artículo científico publicado en 2007

Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement.

artículo científico publicado en 2005

Neuron-specific proteotoxicity of mutant ataxin-3 in C. elegans: rescue by the DAF-16 and HSF-1 pathways

artículo científico publicado en 2011

Neuroprotective effects of creatine in the CMVMJD135 mouse model of spinocerebellar ataxia type 3.

artículo científico publicado en 2018

Neurotherapeutic effect of Hyptis spp. leaf extracts in Caenorhabditis elegans models of tauopathy and polyglutamine disease: role of the glutathione redox cycle

artículo científico publicado en 2020

Neurotoxic effects of MPTP on mouse cerebral cortex: Modulation of neuroinflammation as a neuroprotective strategy

artículo científico publicado en 2019

No association between chromosome-18 markers and lithiumresponsive affective disorders

artículo científico publicado en 1996

Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea

artículo científico publicado en 2005

Novel candidate blood-based transcriptional biomarkers of Machado-Joseph disease

artículo científico publicado en 2015

Novel genes for autism implicate both excitatory and inhibitory cell lineages in risk

article

Nucleocytoplasmic shuttling activity of ataxin-3.

artículo científico publicado en 2009

Patterns of mitochondrial DNA damage in blood and brain tissues of a transgenic mouse model of Machado-Joseph disease.

artículo científico publicado en 2012

Pharmacological Therapies for Machado-Joseph Disease.

artículo científico publicado en 2018

Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2

artículo científico publicado en 2013

Population genetics of wild-type CAG repeats in the Machado-Joseph disease gene in Portugal

artículo científico publicado en 2005

Preclinical Evidence Supporting Early Initiation of Citalopram Treatment in Machado-Joseph Disease

artículo científico publicado en 2018

Prenatal diagnosis of Machado-Joseph disease by direct mutation analysis

artículo científico publicado en 1998

Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications

artículo científico publicado en 2015

Redefining the MED13L syndrome

artículo científico publicado en 2015

Restriction Map of a YAC and Cosmid Contig Encompassing the Oculopharyngeal Muscular Dystrophy Candidate Region on Chromosome 14q11.2–q13

artículo científico publicado en 1998

Rett syndrome with and without detected MECP2 mutations: an attempt to redefine phenotypes.

artículo científico publicado en 2010

Rett's syndrome. Clinical features and advances in genetics

artículo científico publicado en 2002

Revalorisation of rapeseed pomace extracts: An in vitro study into its anti-oxidant and DNA protective properties

artículo científico publicado en 2017

Role of the ubiquitin-proteasome system in nervous system function and disease: using C. elegans as a dissecting tool

artículo científico

Segregation distortion of wild-type alleles at the Machado-Joseph disease locus: a study in normal families from the Azores islands (Portugal).

artículo científico publicado en 2008

Sequence Analysis of 5′ Regulatory Regions of the Machado–Joseph Disease Gene (ATXN3)

article

Serotonergic signalling suppresses ataxin 3 aggregation and neurotoxicity in animal models of Machado-Joseph disease

artículo científico publicado en 2015

Single-tube method for determination of F508del genotype in the CFTR gene using bidirectional PCR amplification of specific alleles

artículo científico publicado en 2003

Somatic mosaicism in the central nervous system in spinocerebellar ataxia type 1 and Machado-Joseph disease

artículo científico publicado en 1996

Stereotypies in Rett syndrome: analysis of 83 patients with and without detected MECP2 mutations

artículo científico publicado en 2007

Study of disease-relevant polymorphisms in the TLR4 and TLR9 genes: A novel method applied to the analysis of the Portuguese population

article

Study of three intragenic polymorphisms in the Machado-Joseph disease gene (MJD1) in relation to genetic instability of the (CAG)n tract

article

T-1237C polymorphism of TLR9 gene is not associated with multiple sclerosis in the Portuguese population.

artículo científico publicado en 2008

Tauroursodeoxycholic Acid Improves Motor Symptoms in a Mouse Model of Parkinson's Disease

article

The (CAG)n tract of Machado-Joseph Disease gene (ATXN3): a comparison between DNA and mRNA in patients and controls.

artículo científico publicado en 2009

The APOE ε2 Allele Increases the Risk of Earlier Age at Onset in Machado-Joseph Disease

artículo científico publicado en 2011

The C677T polymorphism in MTHFR is not associated with migraine in Portugal.

scientific article published on January 2008

The CAG repeat at the Huntington disease gene in the Portuguese population: insights into its dynamics and to the origin of the mutation

artículo científico publicado en 2005

The Role of Copy Number Changes in Brain Abnormalities and Neurodevelopmental Disorders: Four New Cases and Literature Review

artículo científico publicado en 2019

The contribution of 7q33 copy number variations for intellectual disability

artículo científico publicado en 2017

The genomic structure and expression of MJD, the Machado-Joseph disease gene

artículo científico publicado en 2001

The role of the mammalian DNA end-processing enzyme polynucleotide kinase 3'-phosphatase in spinocerebellar ataxia type 3 pathogenesis

artículo científico publicado en 2015

The rs5743836 polymorphism in TLR9 confers a population-based increased risk of non-Hodgkin lymphoma

scientific article published on 25 August 2011

Towards a structural understanding of the fibrillization pathway in Machado-Joseph's disease: trapping early oligomers of non-expanded ataxin-3.

artículo científico publicado en 2005

Trastornos nutricionales y gastrointestinales en el síndrome de Rett: importancia de la intervención temprana

artículo científico publicado en 2009

Using C. elegans to Decipher the Cellular and Molecular Mechanisms Underlying Neurodevelopmental Disorders ⬇️

artículo científico publicado el 14 de marzo de 2013

Variant Rett syndrome in a girl with a pericentric X-chromosome inversion leading to epigenetic changes and overexpression of the MECP2 gene

artículo científico publicado en 2015

Whole Gene Deletion of EBF3 Supporting Haploinsufficiency of This Gene as a Mechanism of Neurodevelopmental Disease

artículo científico publicado en 2017

Lista de obras de Patricia Maciel

A familial factor independent of CAG repeat length influences age at onset of Machado-Joseph disease

A novel microduplication of ARID1B: Clinical, genetic, and proteomic findings

A whole genome screen for association with multiple sclerosis in Portuguese patients

APOE epsilon variation in multiple sclerosis susceptibility and disease severity: some answers

ATX-3, CDC-48 and UBXN-5: A new trimolecular complex in Caenorhabditis elegans

Abnormal movements in Rett syndrome are present before the regression period: a case study

Absence of ataxin-3 leads to cytoskeletal disorganization and increased cell death

Absence of ataxin-3 leads to enhanced stress response in C. elegans

Altered striatal endocannabinoid signaling in a transgenic mouse model of spinocerebellar ataxia type-3.

An Image Processing Application for Quantification of Protein Aggregates in Caenorhabditis Elegans

An explanation for another familial case of Rett syndrome: maternal germline mosaicism

Analysis of SCA1, DRPLA, MJD, SCA2, and SCA6 CAG repeats in 48 Portuguese ataxia families.

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.

Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study

Ataxin-3 plays a role in mouse myogenic differentiation through regulation of integrin subunit levels

Atypical stereotypies and vocal tics in Rett syndrome: An illustrative case

Chromatin remodeling and neuronal function: exciting links

Chronic treatment with 17-DMAG improves balance and coordination in a new mouse model of Machado-Joseph disease

Citalopram Reduces Aggregation of ATXN3 in a YAC Transgenic Mouse Model of Machado-Joseph Disease

Combined therapy with m-TOR-dependent and -independent autophagy inducers causes neurotoxicity in a mouse model of Machado-Joseph disease

Correlation between CAG repeat length and clinical features in Machado-Joseph disease ⬇️

Deficiency in classical nonhomologous end-joining-mediated repair of transcribed genes is linked to SCA3 pathogenesis

Detection of heterozygous deletions and duplications in the MECP2 gene in Rett syndrome by Robust Dosage PCR (RD-PCR).

Developmental absence of maxillary lateral incisors in the Portuguese population

Developmental disturbances associated with agenesis of the permanent maxillary lateral incisor

Differential mtDNA damage patterns in a transgenic mouse model of Machado-Joseph disease (MJD/SCA3).

Discovery of Therapeutic Approaches for Polyglutamine Diseases: A Summary of Recent Efforts

Dominant negative effect of polyglutamine expansion perturbs normal function of ataxin-3 in neuronal cells

Dysregulation of the endocannabinoid signaling system in the cerebellum and brainstem in a transgenic mouse model of spinocerebellar ataxia type-3.

Evaluation of CSF neurotransmitters and folate in 25 patients with Rett disorder and effects of treatment

Evidence for abnormal early development in a mouse model of Rett syndrome.

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

Familial aggregation of maxillary lateral incisor agenesis

Functional genomics and biochemical characterization of the C. elegans orthologue of the Machado-Joseph disease protein ataxin-3.

Gender equality in Machado–Joseph disease

Genetic Linkage Studies of Machado-Joseph Disease with Chromosome 14q STRPs in 16 Portuguese-Azorean Kindreds

Genetic interaction of CTLA-4 with HLA-DR15 in multiple sclerosis patients

Genomic imbalances defining novel intellectual disability associated loci

Genomic structure, promoter activity, and developmental expression of the mouse homologue of the Machado-Joseph disease (MJD) gene

Genotypes at the APOE and SCA2 loci do not predict the course of multiple sclerosis in patients of Portuguese origin

High germinal instability of the (CTG)n at the SCA8 locus of both expanded and normal alleles

IP3 R2 null mice display a normal acquisition of somatic and neurological development milestones

Identification of novel genetic causes of Rett syndrome-like phenotypes

Identification of rare de novo epigenetic variations in congenital disorders.

Identification of three novel polymorphisms in the MJD1 gene and study of their frequency in the Portuguese population

Impact of rapeseed pomace extract on markers of oxidative stress and DNA damage in human SH-SY5Y cells

Improvement in the Molecular Diagnosis of Machado-Joseph Disease ⬇️

Inactivation of PNKP by mutant ATXN3 triggers apoptosis by activating the DNA damage-response pathway in SCA3

Increased transcript diversity: novel splicing variants of Machado-Joseph disease gene (ATXN3).

Inherited and acquired risk factors and their combined effects in pediatric stroke

Institutionalization and indiscriminate social behavior: Differential-susceptibility versus diathesis-stress models for the 5-HTTLPR and BDNF genotypes.

Limited Effect of Chronic Valproic Acid Treatment in a Mouse Model of Machado-Joseph Disease

Limits of clinical assessment in the accurate diagnosis of Machado-Joseph disease

Linkage disequilibrium analysis in Machado-Joseph disease patients of different ethnic origins

Linkage disequilibrium screening for multiple sclerosis implicates JAG1 and POU2AF1 as susceptibility genes in Europeans

Lithium chloride therapy fails to improve motor function in a transgenic mouse model of Machado-Joseph disease

Loss of egli-1, the Caenorhabditis elegans Orthologue of a Downstream Target of SMN, Leads to Abnormalities in Sensorimotor Integration

MECP2 coding sequence and 3'UTR variation in 172 unrelated autistic patients

Machado-Joseph disease gene products carrying different carboxyl termini

Molecular diagnosis of Huntington disease in Portugal: implications for genetic counselling and clinical practice

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

Mosaicism of the CAG repeat in CNS tissue in relation to age at death in spinocerebellar ataxia type 1 and Machado-Joseph disease patients.

Motor uncoordination and neuropathology in a transgenic mouse model of Machado-Joseph disease lacking intranuclear inclusions and ataxin-3 cleavage products

Movement disorders in Rett syndrome: An analysis of 60 patients with detected MECP2 mutation and correlation with mutation type

Mutation detection in Machado-Joseph disease using repeat expansion detection

Mutational analysis of MSX1 and PAX9 genes in Portuguese families with maxillary lateral incisor agenesis

Mutations in the MECP2 gene are not a major cause of Rett syndrome-like or related neurodevelopmental phenotype in male patients

NEDD8: A new ataxin-3 interactor

Neurodevelopment milestone abnormalities in rats exposed to stress in early life.

Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement.

Neuron-specific proteotoxicity of mutant ataxin-3 in C. elegans: rescue by the DAF-16 and HSF-1 pathways

Neuroprotective effects of creatine in the CMVMJD135 mouse model of spinocerebellar ataxia type 3.

Neurotherapeutic effect of Hyptis spp. leaf extracts in Caenorhabditis elegans models of tauopathy and polyglutamine disease: role of the glutathione redox cycle

Neurotoxic effects of MPTP on mouse cerebral cortex: Modulation of neuroinflammation as a neuroprotective strategy

No association between chromosome-18 markers and lithiumresponsive affective disorders

Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea

Novel candidate blood-based transcriptional biomarkers of Machado-Joseph disease

Novel genes for autism implicate both excitatory and inhibitory cell lineages in risk

Nucleocytoplasmic shuttling activity of ataxin-3.