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List of works by Conceicao Bettencourt

A 30-unit hexanucleotide repeat expansion in C9orf72 induces pathological lesions with dipeptide-repeat proteins and RNA foci, but not TDP-43 inclusions and clinical disease.

scientific article published on 7 September 2015

A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary chorea

scientific article published on 2 February 2018

A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function.

scientific article published on 11 November 2017

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

scientific article published on 12 July 2019

Accumulation of Mitochondrial DNA Common Deletion Since The Preataxic Stage of Machado-Joseph Disease.

scientific article published on 21 April 2018

Analysis of segregation patterns in Machado-Joseph disease pedigrees.

scientific article published on 9 August 2008

Brain iron accumulation affects myelin-related molecular systems implicated in a rare neurogenetic disease family with neuropsychiatric features

scientific article published on 05 January 2016

Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1

scientific article published on 01 June 2015

Coenzyme Q10 Levels Are Decreased in the Cerebellum of Multiple-System Atrophy Patients.

scientific article published on 19 February 2016

Cross-sectional study of risk factors for atherosclerosis in the Azorean population.

scientific article published on 15 February 2011

Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44.

scientific article published on October 2017

Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44.

scientific article published in November 2017

Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44.

scientific article published in September 2017

Epigenomics and transcriptomics analyses of multiple system atrophy brain tissue supports a role for inflammatory processes in disease pathogenesis

scientific article published on 14 May 2020

Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia.

scientific article published on 25 March 2013

Exome sequencing uncovers hidden pathways in familial and sporadic ALS.

scientific article

Expanding the Phenotype and Genetic Defects Associated with the GOSR2 Gene

scientific article published on 17 June 2015

Gene co-expression networks shed light into diseases of brain iron accumulation

scientific article

Genetic advances in sporadic inclusion body myositis.

scientific article published on September 2015

Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.

scientific article published on 13 May 2017

Genetic and phenotypic characterization of complex hereditary spastic paraplegia

scientific article published on 23 May 2016

Genetic profiling of the Azores Islands (Portugal): data from 10 X-chromosome STRs.

scientific article

Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia.

scientific article published on 2 November 2017

Glucocerebrosidase gene variants in parkinsonian patients with Machado Joseph/spinocerebellar ataxia 3

article

In silico comparative analysis of LRRK2 interactomes from brain, kidney and lung

scientific article published on 26 April 2021

MOBP and HIP1 in multiple system atrophy: new α-synuclein partners in glial cytoplasmic inclusions implicated in the disease pathogenesis

scientific article published on 23 December 2020

Machado-Joseph Disease: from first descriptions to new perspectives ⬇️

scientific article published on June 2, 2011

Multiple system atrophy: genetic risks and alpha-synuclein mutations.

scientific article published on 30 November 2017

Nystagmus as an early ocular alteration in Machado-Joseph disease (MJD/SCA3).

scientific article published on 22 January 2014

Paroxysmal Movement Disorder and Epilepsy Caused by a De Novo Truncating Mutation in KAT6A

scientific article published on 14 June 2018

Pathological relationships involving iron and myelin may constitute a shared mechanism linking various rare and common brain diseases

scientific article published on 22 June 2016

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

scientific article

Polymorphism of the APOE locus in the Azores Islands (Portugal).

scientific article published in August 2006

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

scientific article

Promoter Variation and Expression Levels of Inflammatory Genes IL1A, IL1B, IL6 and TNF in Blood of Spinocerebellar Ataxia Type 3 (SCA3) Patients

scientific article published on 31 May 2016

Psychological well-being and family satisfaction levels five years after being confirmed as a carrier of the Machado-Joseph disease mutation

scientific article

Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene.

scientific article published on 19 March 2016

Replicating studies of genetic modifiers in spinocerebellar ataxia type 3: can homogeneous cohorts aid?

scientific article published on 14 July 2015

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

Sequencing analysis of the SCA6 CAG expansion excludes an influence of repeat interruptions on disease onset.

scientific article

Sporadic inclusion body myositis: the genetic contributions to the pathogenesis.

scientific 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 African contribution to the present-day population of the Azores Islands (Portugal): analysis of the Y chromosome haplogroup E.

scientific article published in November 2007

The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis

scientific article

Transcript diversity of Machado-Joseph disease gene (ATXN3) is not directly determined by SNPs in exonic or flanking intronic regions

scientific article published on 16 June 2012

Trehalose improves human fibroblast deficits in a new CHIP-mutation related ataxia.

scientific article

Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.

scientific article

Understanding differences between phylogenetic and pedigree-derived mtDNA mutation rate: a model using families from the Azores Islands (Portugal).

scientific article published on 6 April 2005

White matter DNA methylation profiling reveals deregulation of HIP1, LMAN2, MOBP, and other loci in multiple system atrophy

scientific article published on 18 September 2019

“Mimicking” capacity of spinocerebellar ataxia type 3: The details matter ⬇️

scientific article published on February 13, 2013

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