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List of works by Patricia Maciel

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

scientific article published in July 1996

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

scientific article published on 10 July 2017

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

scientific article published in October 2003

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

scientific article

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

scientific article published on 21 June 2009

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

scientific article published in November 2007

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

scientific article

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

scientific article

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

scientific article published on 27 April 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

scientific article published on 18 April 2007

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

scientific article published in March 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

scientific article

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

scientific article

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

scientific article published on 01 March 2008

Chromatin remodeling and neuronal function: exciting links

scientific article (publication date: June 2006)

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

scientific article published on April 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

scientific article published on 18 November 2015

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

scientific article published on July 1, 1995

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

scientific article published on 23 March 2020

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

scientific article

Developmental absence of maxillary lateral incisors in the Portuguese population

scientific article published on 31 August 2005

Developmental disturbances associated with agenesis of the permanent maxillary lateral incisor

scientific article published on 30 October 2009

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

scientific article published on 8 July 2014

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

scientific article published on 21 November 2016

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

scientific article

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

scientific article

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

scientific article published on 24 June 2008

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

scientific article published on 17 July 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

scientific article

Familial aggregation of maxillary lateral incisor agenesis

scientific article published on 16 April 2010

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

scientific article published on 18 January 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

scientific article (publication date: July 2003)

Genomic imbalances defining novel intellectual disability associated loci

scientific article published on 05 July 2019

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

scientific article

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

scientific article published in April 2004

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

scientific article

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

scientific article published on 6 January 2016

Identification of rare de novo epigenetic variations in congenital disorders.

scientific article published on 25 May 2018

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

scientific article published on 01 January 2002

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

scientific article published on 22 December 2020

Improvement in the Molecular Diagnosis of Machado-Joseph Disease ⬇️

scientific article (publication date: November 2001)

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

scientific article

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

scientific article

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

scientific article published in February 2003

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

scientific article published on 16 September 2015

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

scientific article

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

scientific article

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

scientific article

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

scientific article published in December 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

scientific article published in June 2007

Machado-Joseph disease gene products carrying different carboxyl termini

scientific article (publication date: August 1997)

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

scientific article published in November 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

scientific article published on 13 July 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.

scientific article published in April 1997

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

scientific article published on 25 May 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

scientific article

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

scientific article published on 26 July 2010

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

scientific article published on January 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.

scientific article published on 22 June 2007

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

scientific article

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

scientific article

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

scientific article published on 23 March 2018

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

scientific article published on 20 October 2020

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

scientific article published on 13 February 2019

No association between chromosome-18 markers and lithiumresponsive affective disorders

scientific article published on 01 June 1996

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

scientific article published on 12 October 2005

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

scientific article published on 25 April 2015

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

article

Nucleocytoplasmic shuttling activity of ataxin-3.

scientific article

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

scientific article

Pharmacological Therapies for Machado-Joseph Disease.

scientific article published in January 2018

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

scientific article

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

scientific article

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

scientific article published on 01 September 2018

Prenatal diagnosis of Machado-Joseph disease by direct mutation analysis

scientific article

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

scientific article

Redefining the MED13L syndrome

scientific article

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

scientific article published on 01 September 1998

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

scientific article published on 8 February 2010

Rett's syndrome. Clinical features and advances in genetics

scientific article published in February 2002

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

scientific article published on 23 June 2017

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

scientific article published on 03 March 2012

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

scientific article published on 20 February 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

scientific article

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

scientific article published in March 2003

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

scientific article published in August 1996

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

scientific article published in April 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.

scientific article published on 21 January 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.

scientific article published on 25 November 2009

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

scientific article published on 01 December 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

scientific article published on 22 December 2005

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

scientific article published on 22 February 2019

The contribution of 7q33 copy number variations for intellectual disability

scientific article published on 19 December 2017

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

scientific article (publication date: 2001)

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

scientific article published on 29 January 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.

scientific article

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

scientific article published on 07 May 2009

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

scientific article published on March 14, 2013

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

scientific article published on 10 August 2015

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

scientific article published on 9 October 2017

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