Conceicao Bettencourt

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 (DEMON) network. Source: Wikipedia (en)

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Articles 52

Date

Title

Authors

2021-04-26

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

Conceicao Bettencourt
2020-05-14

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

Conceicao Bettencourt, Tammaryn Lashley, Janice Holton
2020-12-23

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

Conceicao Bettencourt, Tammaryn Lashley, Janice Holton
2019-09-18

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

Conceicao Bettencourt, Juan A Botía, Thomas Warner, Emmanuelle Viré, Tammaryn Lashley, Janice Holton
2019-07-12

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Oscar D Bello, Stephanie Efthymiou, Lydie Burglen, Stephanie Valence, Erin Torti, Andreas Lieb, Conceicao Bettencourt, Roope Mannikko, Alfredo Brusco, Giovanni Battista Ferrero, Amy L Schneider, Alison M Muir, Laura E Schultz-Rogers, Aldo Skabar, Miquel Raspall-Chaure, Sara Fortuna, Murim Choi, Ingrid Scheffer, Evan E. Eichler, Dimitri Kullmann, Henry Houlden, Mara Parellada, Heather C. Mefford, Delphine Héron
2018-02-02

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

Conceicao Bettencourt, Christine Klein, Vincenzo Salpietro, Belén Pérez-Dueñas, Kosuke Nakashima, Victoria San Antonio-Arce, Andreea Manole, Stephanie Efthymiou, Jana Vandrovcova, Niccolo E Mencacci, Michy P Kelly, Ceri Hywel Davies, Haruhide Kimura, Alfons Macaya, Henry Houlden
2018-01-24

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

Paola Giunti, Conceicao Bettencourt, Sarah Wiethoff
2018-04-21

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

Mafalda Raposo, Nadiya Kazachkova, Conceicao Bettencourt, Manuela Lima
2018-06-14

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

Conceicao Bettencourt
2017-02-01

Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene

Conceicao Bettencourt, Prochi Madon, Sarah Wiethoff
2017-05-13

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

Alexander M. Rossor, Alejandro Horga, Conceicao Bettencourt, Michael Shy, Sarah Wiethoff, Michael Hanna
2017-10-01

Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44

Conceicao Bettencourt, Katherine Fawcett, Esther Becker
2017-11-02

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

Conceicao Bettencourt, Vincenzo Salpietro, Viorica Chelban, Alan Pittman, Georgia Xiromerisiou
2017-11-01

Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44.

Conceicao Bettencourt, Katherine Fawcett, Esther Becker
2017-09-01

Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44

Conceicao Bettencourt, Katherine Fawcett, Esther Becker
2017-11-30

Multiple system atrophy: genetic risks and alpha-synuclein mutations

Heather T Whittaker, Conceicao Bettencourt, Henry Houlden
2017-11-27

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

Vincenzo Salpietro, Andreea Manole, Juan A Botía, Oscar D Bello, Conceicao Bettencourt, Sarah Wiethoff, Mina Ryten
2016-02-19

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

Conceicao Bettencourt, Janice Holton
2016-05-23

Genetic and phenotypic characterization of complex hereditary spastic paraplegia

Eleanna Kara, Claudia Manzoni, Marilena Elpidorou, Conceicao Bettencourt, Viorica Chelban, Andreea Manole, Sherifa A Hamed, Alan Pittman, Zane Jaunmuktane, Christos Proukakis, Huw R Morris, Thomas Warner, Nicholas W. Wood, Patrick A. Lewis, Sarah Wiethoff, Georgia Xiromerisiou
2016-06-22

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

Joanna Collingwood, Conceicao Bettencourt, John K. Olynyk, Mina Ryten
2016-01-05

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

Joanna Collingwood, Conceicao Bettencourt, John K. Olynyk
2016-05-31

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

Mafalda Raposo, Conceicao Bettencourt, Amanda Ramos, Nadiya Kazachkova, Manuela Lima
2015-12-17

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

Conceicao Bettencourt, Juan A Botía, Joanna Collingwood, Sarah Wiethoff, Mina Ryten
2015-01-14

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

Conceicao Bettencourt, Pedro M Machado, Jan L De Bleecker, Michela Ripolone, Marina Mora, Renato Mantegazza, Simona Zanotti, Michael Hanna, Janice Holton
2015-11-01

Genetic advances in sporadic inclusion body myositis

Conceicao Bettencourt, Pedro M Machado, Michael Hanna
2015-09-07

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

Priya Gami, Conceicao Bettencourt, Eduardo de Pablo-Fernández, Tammaryn Lashley, Janice Holton
2015-07-14

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

Amanda Ramos, Manuela Lima, Mafalda Raposo, Conceicao Bettencourt
2015-05-01

Exome sequencing uncovers hidden pathways in familial and sporadic ALS

Conceicao Bettencourt
2015-06-01

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

Conceicao Bettencourt, Peter Heutink
2015-06-17

Expanding the Phenotype and Genetic Defects Associated with the GOSR2 Gene

Conceicao Bettencourt, Kailash Phatechand Bhatia
2014-06-19

Sporadic inclusion body myositis: the genetic contributions to the pathogenesis

Conceicao Bettencourt, Pedro M Machado, Michael Hanna
2014-09-26

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

Jose Luis López-Sendón Moreno, Conceicao Bettencourt, Peter Heutink

Human - wd:Q55168655

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