| human | Q5 |
| P7893 | CIÊNCIAVITAE ID | 2817-9D2F-4C9B |
| P2671 | Google Knowledge Graph ID | /g/11f0zvtp1y |
| P496 | ORCID iD | 0000-0001-9090-7690 |
| P1153 | Scopus author ID | 8581587200 |
| P4012 | Semantic Scholar author ID | 2629076 |
| P69 | educated at | University of the Azores | Q1461089 |
| P108 | employer | University College London | Q193196 |
| Complutense University of Madrid | Q219694 | ||
| VU University Medical Center | Q1888218 | ||
| Hospital do Divino Espírito Santo | Q30294654 | ||
| Institute for Molecular and Cell Biology | Q10302765 | ||
| P734 | family name | Bettencourt | Q16143019 |
| Bettencourt | Q16143019 | ||
| Bettencourt | Q16143019 | ||
| P735 | given name | C. | Q19803499 |
| C. | Q19803499 | ||
| P1412 | languages spoken, written or signed | English | Q1860 |
| Portuguese | Q5146 | ||
| P106 | occupation | researcher | Q1650915 |
| P21 | sex or gender | female | Q6581072 |
| Q86136487 | "Mimicking" capacity of spinocerebellar ataxia type 3: the details matter |
| Q52149799 | 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. |
| Q47637817 | A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary chorea |
| Q47358966 | A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function. |
| Q91841215 | AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders |
| Q52573208 | Accumulation of Mitochondrial DNA Common Deletion Since The Preataxic Stage of Machado-Joseph Disease. |
| Q43800477 | Analysis of segregation patterns in Machado-Joseph disease pedigrees. |
| Q37364099 | Brain iron accumulation affects myelin-related molecular systems implicated in a rare neurogenetic disease family with neuropsychiatric features |
| Q86538975 | Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1 |
| Q35928302 | Coenzyme Q10 Levels Are Decreased in the Cerebellum of Multiple-System Atrophy Patients. |
| Q44436182 | Cross-sectional study of risk factors for atherosclerosis in the Azorean population. |
| Q42371425 | Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44. |
| Q47140619 | Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44. |
| Q47145203 | Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44. |
| Q94918069 | Epigenomics and transcriptomics analyses of multiple system atrophy brain tissue supports a role for inflammatory processes in disease pathogenesis |
| Q46340410 | Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia. |
| Q53842374 | Exome sequencing uncovers hidden pathways in familial and sporadic ALS. |
| Q92583431 | Expanding the Phenotype and Genetic Defects Associated with the GOSR2 Gene |
| Q34506653 | Gene co-expression networks shed light into diseases of brain iron accumulation |
| Q38579944 | Genetic advances in sporadic inclusion body myositis. |
| Q38787523 | Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease. |
| Q37081945 | Genetic and phenotypic characterization of complex hereditary spastic paraplegia |
| Q33481055 | Genetic profiling of the Azores Islands (Portugal): data from 10 X-chromosome STRs. |
| Q47106032 | Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia. |
| Q57707777 | Glucocerebrosidase gene variants in parkinsonian patients with Machado Joseph/spinocerebellar ataxia 3 |
| Q112293594 | In silico comparative analysis of LRRK2 interactomes from brain, kidney and lung |
| Q104583296 | MOBP and HIP1 in multiple system atrophy: new α-synuclein partners in glial cytoplasmic inclusions implicated in the disease pathogenesis |
| Q21202868 | Machado-Joseph Disease: from first descriptions to new perspectives. |
| Q47309944 | Multiple system atrophy: genetic risks and alpha-synuclein mutations. |
| Q37514583 | Nystagmus as an early ocular alteration in Machado-Joseph disease (MJD/SCA3). |
| Q90931246 | Paroxysmal Movement Disorder and Epilepsy Caused by a De Novo Truncating Mutation in KAT6A |
| Q37127064 | Pathological relationships involving iron and myelin may constitute a shared mechanism linking various rare and common brain diseases |
| Q46318225 | Patterns of mitochondrial DNA damage in blood and brain tissues of a transgenic mouse model of Machado-Joseph disease. |
| Q52805127 | Polymorphism of the APOE locus in the Azores Islands (Portugal). |
| Q28286077 | Population genetics of wild-type CAG repeats in the Machado-Joseph disease gene in Portugal |
| Q60819797 | Promoter Variation and Expression Levels of Inflammatory Genes IL1A, IL1B, IL6 and TNF in Blood of Spinocerebellar Ataxia Type 3 (SCA3) Patients |
| Q36408106 | Psychological well-being and family satisfaction levels five years after being confirmed as a carrier of the Machado-Joseph disease mutation |
| Q37592782 | Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene. |
| Q52152081 | Replicating studies of genetic modifiers in spinocerebellar ataxia type 3: can homogeneous cohorts aid? |
| Q52804580 | Segregation distortion of wild-type alleles at the Machado-Joseph disease locus: a study in normal families from the Azores islands (Portugal). |
| Q57949688 | Sequence Analysis of 5′ Regulatory Regions of the Machado–Joseph Disease Gene (ATXN3) |
| Q47841461 | Sequencing analysis of the SCA6 CAG expansion excludes an influence of repeat interruptions on disease onset. |
| Q33806912 | Sporadic inclusion body myositis: the genetic contributions to the pathogenesis. |
| Q41736716 | The (CAG)n tract of Machado-Joseph Disease gene (ATXN3): a comparison between DNA and mRNA in patients and controls. |
| Q59199944 | The APOE ε2 Allele Increases the Risk of Earlier Age at Onset in Machado-Joseph Disease |
| Q50303809 | The African contribution to the present-day population of the Azores Islands (Portugal): analysis of the Y chromosome haplogroup E. |
| Q35230251 | The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis |
| Q84394600 | Transcript diversity of Machado-Joseph disease gene (ATXN3) is not directly determined by SNPs in exonic or flanking intronic regions |
| Q34258022 | Trehalose improves human fibroblast deficits in a new CHIP-mutation related ataxia. |
| Q34478330 | Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2. |
| Q47282280 | Understanding differences between phylogenetic and pedigree-derived mtDNA mutation rate: a model using families from the Azores Islands (Portugal). |
| Q90173335 | White matter DNA methylation profiling reveals deregulation of HIP1, LMAN2, MOBP, and other loci in multiple system atrophy |
| Conceição Bettencourt | wikipedia |
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