Conceição Bettencourt | Academic Influence

Conceição Bettencourt's AcademicInfluence.com Rankings

Conceição Bettencourt

Computer Science

#12712

World Rank

#13613

Historical Rank

Machine Learning

#5863

World Rank

#5951

Historical Rank

Artificial Intelligence

#6322

World Rank

#6430

Historical Rank

Database

#9819

World Rank

#10403

Historical Rank

computer-science Degrees

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Computer Science

Conceição Bettencourt's Degrees

PhD Computer Science University of Lisbon
Masters Computer Engineering University of Porto
Bachelors Computer Science University of Coimbra

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Why Is Conceição Bettencourt Influential?

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According to Wikipedia, Conceição Bettencourt works in the field of neuro-epigenetics. She studies the involvement of disrupted molecular pathways and DNA methylation in neurodegenerative diseases using human post-mortem brain tissue. She is research fellow of the Alzheimer's Research UK and co-leads the Genetics and Omics Working Group of the international Deep Dementia Phenotyping network.

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Conceição Bettencourt's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases (2016) (172)
Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation. (2014) (166)
Genetic and phenotypic characterization of complex hereditary spastic paraplegia (2016) (155)
Machado-Joseph Disease: from first descriptions to new perspectives (2011) (153)
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders (2019) (111)
Understanding differences between phylogenetic and pedigree-derived mtDNA mutation rate: a model using families from the Azores Islands (Portugal). (2005) (99)
A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia. (2015) (99)
Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2. (2014) (68)
Insights from cerebellar transcriptomic analysis into the pathogenesis of ataxia. (2014) (54)
Patterns of Mitochondrial DNA Damage in Blood and Brain Tissues of a Transgenic Mouse Model of Machado-Joseph Disease (2012) (53)
Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44 (2017) (53)
Increased transcript diversity: novel splicing variants of Machado–Joseph Disease gene (ATXN3) (2010) (49)
Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis (2016) (45)
Coenzyme Q10 Levels Are Decreased in the Cerebellum of Multiple-System Atrophy Patients (2016) (45)
Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis (2016) (45)
A homozygous loss‐of‐function mutation in PDE2A associated to early‐onset hereditary chorea (2018) (43)
Population Genetics of Wild-Type CAG Repeats in the Machado-Joseph Disease Gene in Portugal (2006) (42)
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 (2015) (36)
A loss‐of‐function homozygous mutation in DDX59 implicates a conserved DEAD‐box RNA helicase in nervous system development and function (2017) (36)
Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1 (2015) (35)
The APOE ε2 allele increases the risk of earlier age at onset in Machado-Joseph disease. (2011) (34)
Analysis of segregation patterns in Machado-Joseph disease pedigrees (2008) (32)
White matter DNA methylation profiling reveals deregulation of HIP1, LMAN2, MOBP, and other loci in multiple system atrophy (2019) (32)
Brain iron accumulation affects myelin-related molecular systems implicated in a rare neurogenetic disease family with neuropsychiatric features (2016) (32)
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination (2019) (32)
Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia (2014) (30)
Analysis of Y-chromosome variability and its comparison with mtDNA variability reveals different demographic histories between islands in the Azores Archipelago (Portugal). (2005) (28)
Sporadic inclusion body myositis: the genetic contributions to the pathogenesis (2014) (28)
Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease (2017) (28)
Parkinsonian phenotype in Machado-Joseph disease (MJD/SCA3): a two-case report (2011) (26)
Segregation distortion of wild-type alleles at the Machado-Joseph disease locus: a study in normal families from the Azores islands (Portugal) (2008) (26)
Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene (2016) (26)
Exome sequencing uncovers hidden pathways in familial and sporadic ALS (2015) (26)
Trehalose Improves Human Fibroblast Deficits in a New CHIP-Mutation Related Ataxia (2014) (26)
Heterogeneity in clinical features and disease severity in ataxia-associated SYNE1 mutations (2016) (25)
Gene co-expression networks shed light into diseases of brain iron accumulation (2016) (24)
Novel candidate blood‐based transcriptional biomarkers of machado‐joseph disease (2015) (24)
Nystagmus as an early ocular alteration in Machado-Joseph disease (MJD/SCA3) (2014) (23)
Replicating studies of genetic modifiers in spinocerebellar ataxia type 3: can homogeneous cohorts aid? (2015) (22)
The (CAG)n tract of Machado–Joseph Disease gene (ATXN3): a comparison between DNA and mRNA in patients and controls (2010) (22)
Glucocerebrosidase gene variants in parkinsonian patients with Machado Joseph/spinocerebellar ataxia 3. (2012) (20)
The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis (2015) (20)
Accumulation of Mitochondrial DNA Common Deletion Since The Preataxic Stage of Machado-Joseph Disease (2018) (18)
Psychological well-being and family satisfaction levels five years after being confirmed as a carrier of the Machado-Joseph disease mutation. (2012) (18)
Transcriptional profiling of multiple system atrophy cerebellar tissue highlights differences between the parkinsonian and cerebellar sub-types of the disease (2020) (17)
Promoter Variation and Expression Levels of Inflammatory Genes IL1A, IL1B, IL6 and TNF in Blood of Spinocerebellar Ataxia Type 3 (SCA3) Patients (2017) (17)
Revisiting genotype–phenotype overlap in neurogenetics: Triplet‐repeat expansions mimicking spastic paraplegias (2012) (16)
Expanding the Phenotype and Genetic Defects Associated with the GOSR2 Gene (2015) (15)
Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to l-DOPA treatment (2013) (14)
Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia (2017) (12)
Multiple system atrophy: genetic risks and alpha-synuclein mutations (2017) (12)
Identification of multiple system atrophy mimicking Parkinson’s disease or progressive supranuclear palsy (2021) (12)
Genetic advances in sporadic inclusion body myositis (2015) (10)
Rare variants in SQSTM 1 and VCP genes and risk of sporadic inclusion body myositis (2016) (10)
LRP10 in α-synucleinopathies (2018) (9)
Pathological relationships involving iron and myelin may constitute a shared mechanism linking various rare and common brain diseases (2016) (9)
Genetic profiling of the Azores Islands (Portugal): Data from 10 X‐chromosome STRs (2009) (8)
The African contribution to the present‐day population of the Azores Islands (Portugal): Analysis of the Y chromosome haplogroup E (2007) (7)
Neurodegenerative movement disorders: An epigenetics perspective and promise for the future (2021) (7)
Paroxysmal Movement Disorder and Epilepsy Caused by a De Novo Truncating Mutation in KAT6A (2018) (7)
Sequence Analysis of 5′ Regulatory Regions of the Machado–Joseph Disease Gene (ATXN3) (2012) (7)
MOBP and HIP1 in multiple system atrophy: New α‐synuclein partners in glial cytoplasmic inclusions implicated in the disease pathogenesis (2020) (7)
In silico comparative analysis of LRRK2 interactomes from brain, kidney and lung (2021) (6)
Polymorphism of the APOE Locus in the Azores Islands (Portugal) (2006) (6)
Novel single base-pair deletion in exon 1 of XK gene leading to McLeod syndrome with chorea, muscle wasting, peripheral neuropathy, acanthocytosis and haemolysis (2014) (6)
Pathological substrate of memory impairment in multiple system atrophy (2022) (5)
Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44 (2017) (5)
Epigenomics and transcriptomics analyses of multiple system atrophy brain tissue supports a role for inflammatory processes in disease pathogenesis (2020) (5)
Sequencing analysis of the SCA6 CAG expansion excludes an influence of repeat interruptions on disease onset (2018) (5)
Transcriptomic analysis of frontotemporal lobar degeneration with TDP-43 pathology reveals cellular alterations across multiple brain regions (2021) (4)
Transcript Diversity of Machado–Joseph Disease Gene (ATXN3) Is Not Directly Determined by SNPs in Exonic or Flanking Intronic Regions (2013) (4)
Triplet Repeats: Features, Dynamics and Evolutionary Mechanisms. (2007) (4)
Genetic defects are common in myopathies with tubular aggregates (2021) (3)
Non-Mendelian Genetic Aspects in Spinocerebellar Ataxias (SCAS): The Case of Machado-Joseph Disease (MJD) (2012) (3)
Verification of Inter-laboratorial Genotyping Consistency in the Molecular Diagnosis of Polyglutamine Spinocerebellar Ataxias (2015) (3)
The repeat variant in MSH3 is not a genetic modifier for spinocerebellar ataxia type 3 and Friedreich's ataxia. (2020) (3)
Genetics at different levels in machado-joseph disease (MJD/SCA3): Cause, modifiers and therapy (2012) (2)
Peopling, demographic history and genetic structure of the Azores Islands: Integrating data from mtDNA and Y-chromosome (2006) (2)
A novel frameshift deletion in autosomal recessive SBF1-related syndromic neuropathy with necklace fibres (2020) (2)
“Mimicking” capacity of spinocerebellar ataxia type 3: The details matter (2013) (2)
Genetic Variation in ATXN3 (Ataxin-3) 3′UTR: Insights into the Downstream Regulatory Elements of the Causative Gene of Machado-Joseph Disease/Spinocerebellar Ataxia Type 3 (2022) (2)
Genetic Testing for Late-Onset Disorders: The Experience of Machado-Joseph Disease in the Azores Islands (Portugal) (2006) (2)
Cross-sectional study of risk factors for atherosclerosis in the Azorean population (2011) (2)
Using whole-exome sequencing to identify mutations of SQSTM1 and VCP in inclusion body myositis (2015) (2)
The increasing number of SCA loci: Contributes from classical genetics and new genomics (2012) (1)
Author ' s response to reviews Title : Nystagmus as an early ocular alteration in (2014) (1)
Negative results The effects of an intronic polymorphism in TOMM 40 and APOE genotypes in sporadic inclusion body myositis (2015) (1)
Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44 (2017) (1)
Epigenetic age acceleration is associated with oligodendrocyte proportions in MSA and control brain tissue (2022) (1)
SQSTM1 and VCP mutations in a series of 205 inclusion body myositis cases (2015) (1)
Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease (2021) (1)
Coenzyme Q10 levels are reduced in the cerebellum of multiple system atrophy patients (P1.182) (2015) (1)
Novel Machado-Joseph disease-modifying genes and pathways identified by whole-exome sequencing (2021) (1)
Author ' s response to reviews Title : Nystagmus as an early ocular alteration in (2014) (1)
Verification of Inter-laboratorial Genotyping Consistency in the Molecular Diagnosis of Polyglutamine Spinocerebellar Ataxias (2015) (0)
Transcript Diversity of Machado–Joseph Disease Gene (ATXN3) Is Not Directly Determined by SNPs in Exonic or Flanking Intronic Regions (2012) (0)
B48 DNA repair pathways as a common genetic mechanism modulating the age at onset in polyglutamine diseases (2016) (0)
Modeling Neurodegenerative Diseases in vivo (2013) (0)
Comparative clinical, genetic and pathological study of C9orf72 expansion repeat cases (2015) (0)
The Deep Dementia Phenotyping (DEMON) Network: A global platform for innovation using data science and artificial intelligence (2022) (0)
Exome sequencing analysis in familial progressive supranuclear palsy (2013) (0)
DNA REPAIR PATHWAYS MODULATE ONSET IN POLYGLUTAMINE DISEASES (2016) (0)
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders (2019) (0)
Diversity of maternal and paternal lineages in the geographic extremes of the Azores (Santa Maria and Flores Islands): Insights from mtDNA, Y-chromosome and surname data (2006) (0)
Promoter Variation and Expression Levels of Inflammatory Genes IL1A, IL1B, IL6 and TNF in Blood of Spinocerebellar Ataxia Type 3 (SCA3) Patients (2016) (0)
Epigenomics and transcriptomics analyses of multiple system atrophy brain tissue supports a role for inflammatory processes in disease pathogenesis (2020) (0)
Alzheimer's disease pathology concomitant with memory impairment in late‐onset multiple system atrophy (2023) (0)
Contents Vol. 11, 2013 (2013) (0)
122nd Meeting of the British Neuropathological Society (2021) (0)
Sequence Analysis of 5′ Regulatory Regions of the Machado–Joseph Disease Gene (ATXN3) (2012) (0)
Oral Presentations (2015) (0)
Accumulation of Mitochondrial DNA Common Deletion Since The Preataxic Stage of Machado-Joseph Disease (2018) (0)
Transcriptional profiling of multiple system atrophy cerebellar tissue highlights differences between the parkinsonian and cerebellar sub-types of the disease (2020) (0)
TOLL-LIKE RECEPTOR ANTAGONISM AS A NOVEL ANTI-INFLAMMATORY THERAPEUTIC APPROACH FOR DUCHENNE MUSCULAR DYSTROPHY (2015) (0)
Relationship of the APOE polymorphism and lipid profile: A population-based study in the Azores Islands (Portugal) (2009) (0)
The Deep Dementia Phenotyping (DEMON) Network: A global platform for innovation using data science and artificial intelligence (2022) (0)
Brain DNA methylomic analysis of frontotemporal lobar degeneration reveals OTUD4 in shared dysregulated signatures across pathological subtypes (2023) (0)
A loss-of-function homozygousmutation inDDX59 implicates a conservedDEAD-box RNA helicase in nervous system development and function (2017) (0)
Machado-Joseph Disease: From Genetic Variability to Clinical Heterogeneity (2010) (0)
Involvement of autophagic protein DEF8 in Lewy bodies. (2022) (0)
Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1 (2015) (0)
Creating connections: developing an online space for cross-regional mentorship and network building in the dementia research field (2022) (0)
Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene (2016) (0)

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