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description Publicationkeyboard_double_arrow_right Article , Preprint 2018 CanadaCold Spring Harbor Laboratory EC | VirtualBrainCloud, EC | BrainModes, EC | HBP SGA2 +1 projectsEC| VirtualBrainCloud ,EC| BrainModes ,EC| HBP SGA2 ,CIHRShen, Kelly; Bezgin, Gleb; Schirner, Michael; Ritter, Petra; Everling, Stefan; McIntosh, Anthony R.;Models of large-scale brain networks that are informed by the underlying anatomical connectivity contribute to our understanding of the mapping between the structure of the brain and its dynamical function. Connectome-based modelling is a promising approach to a more comprehensive understanding of brain function across spatial and temporal scales, but it must be constrained by multi-scale empirical data from animal models. Here we describe the construction of a macaque (Macaca mulatta and Macaca fascicularis) connectome for whole-cortex simulations in TheVirtualBrain, an open-source simulation platform. We take advantage of available axonal tract-tracing datasets and enhance the existing connectome data using diffusion-based tractography in macaques. We illustrate the utility of the connectome as an extension of TheVirtualBrain by simulating resting-state BOLD-fMRI data and fitting it to empirical resting-state data. Design Type(s)data integration objective • source-based data transformation objective • modeling and simulation objectiveMeasurement Type(s)brain measurementTechnology Type(s)functional magnetic resonance imaging • Diffusion Weighted ImagingFactor Type(s)Sample Characteristic(s)Macaca • brain Machine-accessible metadata file describing the reported data (ISA-Tab format)
add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eu49 citations 49 popularity Top 1% influence Average impulse Top 10% Powered by BIP!more_vert add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2020 Netherlands, Denmark, Denmark, Spain, Italy, Belgium, CanadaWiley EC | DALIEC| DALIRodrigo Antunes Lima; Gernot Desoye; David Simmons; Roland Devlieger; Sander Galjaard; Rosa Corcoy; Juan M. Adelantado; Fidelma Dunne; Jürgen Harreiter; Alexandra Kautzky-Willer; Peter Damm; Elisabeth R. Mathiesen; Dorte Møller Jensen; Lise Lotte Torvin Andersen; Mette Tanvig; Annunziata Lapolla; Maria Grazia Dalfrà; Alessandra Bertolotto; Urszula Manta; Ewa Wender-Ozegowska; Agnieszka Zawiejska; David Hill; Frank J. Snoek; Judith G. M. Jelsma; Mireille N M van Poppel;AbstractBackgroundAlthough previous studies evaluated the association of maternal health parameters with neonatal adiposity, little is known regarding the complexity of the relationships among different maternal health parameters throughout pregnancy and its impact on neonatal adiposity.ObjectivesTo evaluate the direct and indirect associations between maternal insulin resistance during pregnancy, in women with obesity, and neonatal adiposity. In addition, associations between maternal fasting glucose, triglycerides (TG), non‐esterified fatty acids (NEFA), and neonatal adiposity were also assessed.MethodsThis is a longitudinal, secondary analysis of the DALI study, an international project conducted in nine European countries with pregnant women with obesity. Maternal insulin resistance (HOMA‐IR), fasting glucose, TG, and NEFA were measured three times during pregnancy (<20, 24‐28, and 35‐37 weeks of gestation). Offspring neonatal adiposity was estimated by the sum of four skinfolds. Structural equation modelling was conducted to evaluate the direct and indirect relationships among the variables of interest.ResultsData on 657 mother‐infant pairs (50.7% boys) were analysed. Neonatal boys exhibited lower mean sum of skinfolds compared to girls (20.3 mm, 95% CI 19.7, 21.0 vs 21.5 mm, 95% CI 20.8, 22.2). In boys, maternal HOMA‐IR at <20 weeks was directly associated with neonatal adiposity (β = 0.35 mm, 95% CI 0.01, 0.70). In girls, maternal HOMA‐IR at 24‐28 weeks was only indirectly associated with neonatal adiposity, which implies that this association was mediated via maternal HOMA‐IR, glucose, triglycerides, and NEFA during pregnancy (β = 0.26 mm, 95% CI 0.08, 0.44).ConclusionsThe timing of the role of maternal insulin resistance on neonatal adiposity depends on fetal sex. Although the association was time‐dependent, maternal insulin resistance was associated with neonatal adiposity in both sexes.
NARCIS arrow_drop_down Paediatric and Perinatal EpidemiologyArticle . 2021Data sources: University of Southern Denmark Research OutputRecolector de Ciencia Abierta, RECOLECTA; Dipòsit Digital de Documents de la UABArticle . 2021License: CC BYRecolector de Ciencia Abierta, RECOLECTAArticle . 2021Data sources: Recolector de Ciencia Abierta, RECOLECTACopenhagen University Research Information SystemArticle . 2021Data sources: Copenhagen University Research Information SystemRecolector de Ciencia Abierta, RECOLECTAArticleData sources: Recolector de Ciencia Abierta, RECOLECTAUniversity of Southern Denmark Research OutputArticle . 2021Data sources: University of Southern Denmark Research Outputadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eu7 citations 7 popularity Top 10% influence Average impulse Top 10% Powered by BIP!more_vert NARCIS arrow_drop_down Paediatric and Perinatal EpidemiologyArticle . 2021Data sources: University of Southern Denmark Research OutputRecolector de Ciencia Abierta, RECOLECTA; Dipòsit Digital de Documents de la UABArticle . 2021License: CC BYRecolector de Ciencia Abierta, RECOLECTAArticle . 2021Data sources: Recolector de Ciencia Abierta, RECOLECTACopenhagen University Research Information SystemArticle . 2021Data sources: Copenhagen University Research Information SystemRecolector de Ciencia Abierta, RECOLECTAArticleData sources: Recolector de Ciencia Abierta, RECOLECTAUniversity of Southern Denmark Research OutputArticle . 2021Data sources: University of Southern Denmark Research Outputadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Other literature type 2022 United Kingdom, Italy, Netherlands, Spain, Belgium, Canada, Netherlands, Belgium, Netherlands, Italy, Netherlands, Italy, United Kingdom, Germany, ItalySpringer Science and Business Media LLC UKRI | Developing an evidence ba..., EC | MIRIADE, CIHR +3 projectsUKRI| Developing an evidence base for trials in genetic frontotemporal dementia - measures of disease onset and progression ,EC| MIRIADE ,CIHR ,WT| Bridging the gap: biophysical models of human frontotemporal lobar degeneration ,UKRI| The UK GENetic Frontotemporal dementia Initiative (UK GENFI) ,EC| PATHADSogorb-Esteve, Aitana; Nilsson, Johanna; Borroni, Barbara; Balasa, Mircea; Bargalló, Nuria; Borrego-Ecija, Sergi; de Mendonça, Alexandre; Verdelho, Ana; Maruta, Carolina; Ferreira, Catarina B; Miltenberger, Gabriel; do Couto, Frederico Simões; Gabilondo, Alazne; Galimberti, Daniela; Gorostidi, Ana; Villanua, Jorge; Cañada, Marta; Tainta, Mikel; Zulaica, Miren; Barandiaran, Myriam; Alves, Patricia; Bender, Benjamin; Wilke, Carlo; Graf, Lisa; Sanchez-Valle, Raquel; Vogels, Annick; Vandenbulcke, Mathieu; Van Damme, Philip; Bruffaerts, Rose; Poesen, Koen; Rosa-Neto, Pedro; Gauthier, Serge; Camuzat, Agnès; Brice, Alexis; Bertrand, Anne; Laforce, Robert; Funkiewiez, Aurélie; Rinaldi, Daisy; Saracino, Dario; Colliot, Olivier; Sayah, Sabrina; Prix, Catharina; Wlasich, Elisabeth; Wagemann, Olivia; Loosli, Sandra; Schönecker, Sonja; Moreno, Fermin; Hoegen, Tobias; Lombardi, Jolina; Anderl-Straub, Sarah; Rollin, Adeline; Kuchcinski, Gregory; Bertoux, Maxime; Lebouvier, Thibaud; Deramecourt, Vincent; Santiago, Beatriz; Duro, Diana; Synofzik, Matthis; Leitão, Maria João; Almeida, Maria Rosario; Tábuas-Pereira, Miguel; Afonso, Sónia; Graff, Caroline; Masellis, Mario; Tartaglia, Maria Carmela; Rowe, James B; Swift, Imogen J; Vandenberghe, Rik; Finger, Elizabeth; Tagliavini, Fabrizio; Santana, Isabel; Butler, Chris R; Ducharme, Simon; Gerhard, Alexander; Danek, Adrian; Levin, Johannes; Otto, Markus; Heller, Carolin; Sorbi, Sandro; Le Ber, Isabelle; Pasquier, Florence; Gobom, Johan; Brinkmalm, Ann; Blennow, Kaj; Zetterberg, Henrik; Rohrer, Jonathan D; Initiative, GENetic FTD; Nelson, Annabel; Bocchetta, Martina; Bouzigues, Arabella; Greaves, Caroline V; Cash, David; Thomas, David L; Todd, Emily; Benotmane, Hanya; Nicholas, Jennifer; Samra, Kiran; Shafei, Rachelle; Timberlake, Carolyn; Russell, Lucy L; Cope, Thomas; Rittman, Timothy; Benussi, Alberto; Premi, Enrico; Gasparotti, Roberto; Archetti, Silvana; Gazzina, Stefano; Cantoni, Valentina; Arighi, Andrea; Fenoglio, Chiara; Peakman, Georgia; Scarpini, Elio; Fumagalli, Giorgio; Borracci, Vittoria; Rossi, Giacomina; Giaccone, Giorgio; Di Fede, Giuseppe; Caroppo, Paola; Tiraboschi, Pietro; Prioni, Sara; Redaelli, Veronica; Convery, Rhian S; Tang-Wai, David; Rogaeva, Ekaterina; Castelo-Branco, Miguel; Freedman, Morris; Keren, Ron; Black, Sandra; Mitchell, Sara; Shoesmith, Christen; Bartha, Robart; Rademakers, Rosa; van Swieten, John C; Poos, Jackie; Papma, Janne M; Giannini, Lucia; van Minkelen, Rick; Pijnenburg, Yolande; Nacmias, Benedetta; Ferrari, Camilla; Polito, Cristina; Lombardi, Gemma; Bessi, Valentina; Seelaar, Harro; Veldsman, Michele; Andersson, Christin; Thonberg, Hakan; Öijerstedt, Linn; Jelic, Vesna; Thompson, Paul; Langheinrich, Tobias; Lladó, Albert; Antonell, Anna; Olives, Jaume;handle: 2445/202137 , 11572/357782 , 2158/1286404 , 10067/1899560151162165141 , 2434/943676 , 11379/563127
pmid: 36045450
pmc: PMC9429339
handle: 2445/202137 , 11572/357782 , 2158/1286404 , 10067/1899560151162165141 , 2434/943676 , 11379/563127
pmid: 36045450
pmc: PMC9429339
Abstract Background Approximately a third of frontotemporal dementia (FTD) is genetic with mutations in three genes accounting for most of the inheritance: C9orf72, GRN, and MAPT. Impaired synaptic health is a common mechanism in all three genetic variants, so developing fluid biomarkers of this process could be useful as a readout of cellular dysfunction within therapeutic trials. Methods A total of 193 cerebrospinal fluid (CSF) samples from the GENetic FTD Initiative including 77 presymptomatic (31 C9orf72, 23 GRN, 23 MAPT) and 55 symptomatic (26 C9orf72, 17 GRN, 12 MAPT) mutation carriers as well as 61 mutation-negative controls were measured using a microflow LC PRM-MS set-up targeting 15 synaptic proteins: AP-2 complex subunit beta, complexin-2, beta-synuclein, gamma-synuclein, 14–3-3 proteins (eta, epsilon, zeta/delta), neurogranin, Rab GDP dissociation inhibitor alpha (Rab GDI alpha), syntaxin-1B, syntaxin-7, phosphatidylethanolamine-binding protein 1 (PEBP-1), neuronal pentraxin receptor (NPTXR), neuronal pentraxin 1 (NPTX1), and neuronal pentraxin 2 (NPTX2). Mutation carrier groups were compared to each other and to controls using a bootstrapped linear regression model, adjusting for age and sex. Results CSF levels of eight proteins were increased only in symptomatic MAPT mutation carriers (compared with controls) and not in symptomatic C9orf72 or GRN mutation carriers: beta-synuclein, gamma-synuclein, 14–3-3-eta, neurogranin, Rab GDI alpha, syntaxin-1B, syntaxin-7, and PEBP-1, with three other proteins increased in MAPT mutation carriers compared with the other genetic groups (AP-2 complex subunit beta, complexin-2, and 14–3-3 zeta/delta). In contrast, CSF NPTX1 and NPTX2 levels were affected in all three genetic groups (decreased compared with controls), with NPTXR concentrations being affected in C9orf72 and GRN mutation carriers only (decreased compared with controls). No changes were seen in the CSF levels of these proteins in presymptomatic mutation carriers. Concentrations of the neuronal pentraxins were correlated with brain volumes in the presymptomatic period for the C9orf72 and GRN groups, suggesting that they become abnormal in proximity to symptom onset. Conclusions Differential synaptic impairment is seen in the genetic forms of FTD, with abnormalities in multiple measures in those with MAPT mutations, but only changes in neuronal pentraxins within the GRN and C9orf72 mutation groups. Such markers may be useful in future trials as measures of synaptic dysfunction, but further work is needed to understand how these markers change throughout the course of the disease.
IRIS - Institutional... arrow_drop_down NARCIS; Alzheimer’s Research & TherapyArticle . 2022Institutional Repository Universiteit AntwerpenArticle . 2022Data sources: Institutional Repository Universiteit AntwerpenRecolector de Ciencia Abierta, RECOLECTA; Diposit Digital de la Universitat de BarcelonaArticle . 2022License: CC BYBrunel University Research ArchiveArticle . 2022License: CC BYData sources: Brunel University Research ArchiveUniversitätsbibliographie, Universität Duisburg-EssenArticle . 2022Data sources: Universitätsbibliographie, Universität Duisburg-Essenadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eu8 citations 8 popularity Top 10% influence Average impulse Top 10% Powered by BIP!more_vert IRIS - Institutional... arrow_drop_down NARCIS; Alzheimer’s Research & TherapyArticle . 2022Institutional Repository Universiteit AntwerpenArticle . 2022Data sources: Institutional Repository Universiteit AntwerpenRecolector de Ciencia Abierta, RECOLECTA; Diposit Digital de la Universitat de BarcelonaArticle . 2022License: CC BYBrunel University Research ArchiveArticle . 2022License: CC BYData sources: Brunel University Research ArchiveUniversitätsbibliographie, Universität Duisburg-EssenArticle . 2022Data sources: Universitätsbibliographie, Universität Duisburg-Essenadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2021 Italy, Netherlands, Italy, Netherlands, Portugal, Canada, Italy, Germany, Italy, Netherlands, Netherlands, United Kingdom, Portugal, BelgiumElsevier BV EC | Solve-RDEC| Solve-RDSergi Borrego-Écija; Roser Sala-Llonch; John C. van Swieten; Barbara Borroni; Fermin Moreno; Mario Masellis; Carmela Tartaglia; Caroline Graff; Daniela Galimberti; Robert Laforce; James B. Rowe; Elizabeth Finger; Rik Vandenberghe; Fabrizio Tagliavini; Alexandre de Mendonça; Isabel Santana; Matthis Synofzik; Simon Ducharme; Johannes Levin; Adrian Danek; Alexander Gerhard; Markus Otto; Christopher C Butler; Giovanni B. Frisoni; Sandro Sorbi; Carolin Heller; Martina Bocchetta; David M. Cash; Rhian S Convery; Katrina M. Moore; Jonathan D. Rohrer; Raquel Sánchez-Valle; Martin N. Rossor; Nick C. Fox; Ione O.C. Woollacott; Rachelle Shafei; Caroline V. Greaves; Mollie Neason; Rita Guerreiro; Jose Bras; David L. Thomas; Jennifer M. Nicholas; Simon Mead; Lieke H.H. Meeter; Jessica L. Panman; Janne M. Papma; Rick van Minkelen; Yolande A.L. Pijnenburg; Begoña Indakoetxea; Alazne Gabilondo; Mikel TaintaMD; Maria de Arriba; Ana Gorostidi; Miren Zulaica; Jorge Villanua; Zigor Diaz; Jaume Olives; Albert Lladó; Mircea Balasa; Anna Antonell; Núria Bargalló; Enrico Premi; Maura Cosseddu; Stefano Gazzina; Alessandro Padovani; Roberto Gasparotti; Silvana Archetti; Sandra E. Black; Sara Mitchell; Ekaterina Rogaeva; Morris Freedman; Ron Keren; David F. Tang-Wai; Linn Öijerstedt; Christin Andersson; Vesna Jelic; Håkan Thonberg; Andrea Arighi; Chiara Fenoglio; Elio Scarpini; Giorgio Fumagalli; Thomas E. Cope; Carolyn Timberlake; Timothy Rittman; Christen Shoesmith; Robart Bartha; Rosa Rademakers; Carlo Wilke; Benjamin Bender; Rose Bruffaerts; Philip Vandamme; Mathieu Vandenbulcke; Carolina Maruta; C. Ferreira; Gabriel Miltenberger; Ana Verdelho; Sónia Afonso; Ricardo Taipa; Paola Caroppo; Giuseppe Di Fede; Giorgio Giaccone; Sara Prioni; Veronica Redaelli; Giacomina Rossi; Pietro Tiraboschi; Diana Duro; Maria Rosário Almeida; Miguel Castelo-Branco; Maria João Leitão; Miguel Tábuas-Pereira; Beatriz Santiago; Serge Gauthier; Pedro Rosa-Neto; Michele Veldsman; Toby Flanagan; Catharina Prix; Tobias Hoegen; Elisabeth Wlasich; Sandra V. Loosli; Sonja Schönecker; Elisa Semler; Sarah Anderl-Straub;handle: 10451/46269 , 2158/1230440 , 11379/576269 , 11572/355946 , 10400.16/2850 , 2434/902153
pmc: PMC7804836
pmid: 33418170
handle: 10451/46269 , 2158/1230440 , 11379/576269 , 11572/355946 , 10400.16/2850 , 2434/902153
pmc: PMC7804836
pmid: 33418170
The authors thank all the volunteers for their participation in this study. SBE is a recipient of the Rio-Hortega post-residency grant from the Instituto de Salud Carlos III, Spain. This study was partially funded by Fundació Marató de TV3, Spain (grant no. 20143810 to RSV). The GENFI study has been supported by the Medical Research Council UK, the Italian Ministry of Health and the Canadian Institutes of Health Research as part of a Centres of Excellence in Neurodegeneration grant, as well as other individual funding to investigators. KM has received funding from an Alzheimer’s Society PhD studentship. JDR acknowledges support from the National Institute for Health Research (NIHR) Queen Square Dementia Biomedical Research Unit and the University College London Hospitals Biomedical Research Centre, the Leonard Wolfson Experimental Neurology Centre, the UK Dementia Research Institute, Alzheimer’s Research UK, the Brain Research Trust and the Wolfson Foundation. JCvS was supported by the Dioraphte Foundation grant 09-02-03-00, the Association for Frontotemporal Dementias Research Grant 2009, The Netherlands Organization for Scientific Research (NWO) grant HCMI 056-13-018, ZonMw Memorabel (Deltaplan Dementie, project number 733 051 042), Alzheimer Nederland and the Bluefield project. CG have received funding from JPND-Prefrontals VR Dnr 529-2014-7504, VR: 2015-02926, and 2018-02754, the Swedish FTD Initiative-Schörling Foundation, Alzheimer Foundation, Brain Foundation and Stockholm County Council ALF. DG has received support from the EU Joint Programme – Neurodegenerative Disease Research (JPND) and the Italian Ministry of Health (PreFrontALS) grant 733051042. JBR is funded by the Wellcome Trust (103838) and the National Institute for Health Research (NIHR) Cambridge Biomedical Research Centre. MM has received funding from a Canadian Institutes of Health Research operating grant and the Weston Brain Institute and Ontario Brain Institute. RV has received funding from the Mady Browaeys Fund for Research into Frontotemporal Dementia. EF has received funding from a CIHR grant #327387. JDR is an MRC Clinician Scientist (MR/M008525/1) and has received funding from the NIHR Rare Diseases Translational Research Collaboration (BRC149/NS/MH), the Bluefield Project and the Association for Frontotemporal Degeneration. MS was supported by a grant 779257 “Solve-RD” from the Horizon 2020 research and innovation programme. Mutations in the granulin gene (GRN) cause familial frontotemporal dementia. Understanding the structural brain changes in presymptomatic GRN carriers would enforce the use of neuroimaging biomarkers for early diagnosis and monitoring. We studied 100 presymptomatic GRN mutation carriers and 94 noncarriers from the Genetic Frontotemporal dementia initiative (GENFI), with MRI structural images. We analyzed 3T MRI structural images using the FreeSurfer pipeline to calculate the whole brain cortical thickness (CTh) for each subject. We also perform a vertex-wise general linear model to assess differences between groups in the relationship between CTh and diverse covariables as gender, age, the estimated years to onset and education. We also explored differences according to TMEM106B genotype, a possible disease modifier. Whole brain CTh did not differ between carriers and noncarriers. Both groups showed age-related cortical thinning. The group-by-age interaction analysis showed that this age-related cortical thinning was significantly greater in GRN carriers in the left superior frontal cortex. TMEM106B did not significantly influence the age-related cortical thinning. Our results validate and expand previous findings suggesting an increased CTh loss associated with age and estimated proximity to symptoms onset in GRN carriers, even before the disease onset. © 2020 The Authors. Published by Elsevier Inc. This is an open access article under the CC BY-NC-ND license.
Europe PubMed Centra... arrow_drop_down Spiral - Imperial College Digital RepositoryArticle . 2020License: CC BY NC NDData sources: Spiral - Imperial College Digital RepositoryLAReferencia - Red Federada de Repositorios Institucionales de Publicaciones Científicas Latinoamericanas; Universidade de Lisboa: Repositório.ULOther literature type . Article . 2021License: CC BY NC NDRepositório Científico do Centro Hospitalar do PortoArticle . 2021License: CC BYData sources: Repositório Científico do Centro Hospitalar do PortoFlore (Florence Research Repository)Article . 2021Data sources: Flore (Florence Research Repository)add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eu7 citations 7 popularity Top 10% influence Average impulse Top 10% Powered by BIP!visibility 92visibility views 92 download downloads 135 Powered bymore_vert Europe PubMed Centra... arrow_drop_down Spiral - Imperial College Digital RepositoryArticle . 2020License: CC BY NC NDData sources: Spiral - Imperial College Digital RepositoryLAReferencia - Red Federada de Repositorios Institucionales de Publicaciones Científicas Latinoamericanas; Universidade de Lisboa: Repositório.ULOther literature type . Article . 2021License: CC BY NC NDRepositório Científico do Centro Hospitalar do PortoArticle . 2021License: CC BYData sources: Repositório Científico do Centro Hospitalar do PortoFlore (Florence Research Repository)Article . 2021Data sources: Flore (Florence Research Repository)add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2019 Netherlands, CanadaElsevier BV EC | BrainBehaviourModel, WTEC| BrainBehaviourModel ,WTAuthors: Svenja Espenhahn; Bernadette C.M. van Wijk; Holly E. Rossiter; Archy O. de Berker; +4 AuthorsSvenja Espenhahn; Bernadette C.M. van Wijk; Holly E. Rossiter; Archy O. de Berker; Nell D. Redman; Jane M. Rondina; Jörn Diedrichsen; Nick S. Ward;pmid: 30954709
pmc: PMC6547051
© 2019 The Authors People vary in their capacity to learn and retain new motor skills. Although the relationship between neuronal oscillations in the beta frequency range (15–30 Hz) and motor behaviour is well established, the electrophysiological mechanisms underlying individual differences in motor learning are incompletely understood. Here, we investigated the degree to which measures of resting and movement-related beta power from sensorimotor cortex account for inter-individual differences in motor learning behaviour in the young and elderly. Twenty young (18–30 years) and twenty elderly (62–77 years) healthy adults were trained on a novel wrist flexion/extension tracking task and subsequently retested at two different time points (45–60 min and 24 h after initial training). Scalp EEG was recorded during a separate simple motor task before each training and retest session. Although short-term motor learning was comparable between young and elderly individuals, there was considerable variability within groups with subsequent analysis aiming to find the predictors of this variability. As expected, performance during the training phase was the best predictor of performance at later time points. However, regression analysis revealed that movement-related beta activity significantly explained additional variance in individual performance levels 45–60 min, but not 24 h after initial training. In the context of disease, these findings suggest that measurements of beta-band activity may offer novel targets for therapeutic interventions designed to promote rehabilitative outcomes.
add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eu46 citations 46 popularity Top 10% influence Average impulse Top 1% Powered by BIP!visibility 0visibility views 0 download downloads 11 Powered bymore_vert add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eu- The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations
description Publicationkeyboard_double_arrow_right Article , Other literature type 2015 Canada, Netherlands, France, Turkey, France, China (People's Republic of), Switzerland, SpainHindawi Limited EC | RD-CONNECT, EC | NEUROMICSEC| RD-CONNECT ,EC| NEUROMICSBladen, Catherine; Salgado, David; Monges, Soledad; Foncuberta, Maria E; Kekou, Kyriaki; Kosma, Konstantina; Dawkins, Hugh; Lamont, Leanne; Roy, Anna; Chamova, Teodora; Guergueltcheva, Velina; Chan, Sophelia; Korngut, Lawrence; Campbell, Craig; Dai, Yi; Wang, Jen; Barišić, Nina; Brabec, Petr; Lahdetie, Jaana; Walter, Maggie C; Schreiber-Katz, Olivia; Karcagi, Veronika; Garami, Marta; Viswanathan, Venkatarman; Bayat, Farhad; Buccella, Filippo; Kimura, En; Koeks, Zaïda; van den Bergen, Jan; Rodrigues, Miriam; Roxburgh, Richard; Lusakowska, Anna; Kostera-Pruszczyk, Anna; Zimowski, Jan; Santos, Rosário; Neagu, Elena; Artemieva, Svetlana; Rasic, Vedrana Milic; Vojinovic, Dina; Posada, Manuel; Bloetzer, Clemens; Jeannet, Pierre-Yves; Joncourt, Franziska; Díaz-Manera, Jordi; Gallardo, Eduard; Karaduman, a Ayşe; Topaloğlu, Haluk; El Sherif, Rasha; Stringer, Angela; Shatillo, Andriy V; Martin, Ann S; Peay, Holly L; Bellgard, Matthew I; Kirschner, Jan; Flanigan, Kevin M; Straub, Volker; Bushby, Kate; Verschuuren, Jan; Aartsma-Rus, Annemieke; Béroud, Christophe; Lochmuller, Hanns; Foncuberta, Maria E.; Walter, Maggie C.; Karaduman, A. Ayşe; Shatillo, Andriy V.; Martin, Ann S.; Peay, Holly L.; Bellgard, Matthew I.; Flanigan, Kevin M.;Analyzing the type and frequency of patient-specific mutations that give rise to Duchenne muscular dystrophy (DMD) is an invaluable tool for diagnostics, basic scientific research, trial planning, and improved clinical care. Locus-specific databases allow for the collection, organization, storage, and analysis of genetic variants of disease. Here, we describe the development and analysis of the TREAT-NMD DMD Global database (http://umd.be/TREAT_DMD/). We analyzed genetic data for 7,149 DMD mutations held within the database. A total of 5,682 large mutations were observed (80% of total mutations), of which 4,894 (86%) were deletions (1 exon or larger) and 784 (14%) were duplications (1 exon or larger). There were 1,445 small mutations (smaller than 1 exon, 20% of all mutations), of which 358 (25%) were small deletions and 132 (9%) small insertions and 199 (14%) affected the splice sites. Point mutations totalled 756 (52% of small mutations) with 726 (50%) nonsense mutations and 30 (2%) missense mutations. Finally, 22 (0.3%) mid-intronic mutations were observed. In addition, mutations were identified within the database that would potentially benefit from novel genetic therapies for DMD including stop codon read-through therapies (10% of total mutations) and exon skipping therapy (80% of deletions and 55% of total mutations). Contract grant sponsor(s): TREAT-NMD (FP6LSHM-CT-2006-036825, 20123307 UNEW_FY2013, and AFM 16104); European Union Seventh Framework Programme (FP7/2007-2013) (305444 [RD-Connect] and 305121 [Neuromics]). Sí
Europe PubMed Centra... arrow_drop_down Bern Open Repository and Information System (BORIS)Article . 2015Data sources: Bern Open Repository and Information System (BORIS)Hacettepe Üniversitesi Açık Erişim SistemiArticle . 2015Data sources: Hacettepe Üniversitesi Açık Erişim SistemiRecolector de Ciencia Abierta, RECOLECTAArticle . 2015Data sources: Recolector de Ciencia Abierta, RECOLECTAadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eu498 citations 498 popularity Top 0.1% influence Top 1% impulse Top 0.1% Powered by BIP!more_vert Europe PubMed Centra... arrow_drop_down Bern Open Repository and Information System (BORIS)Article . 2015Data sources: Bern Open Repository and Information System (BORIS)Hacettepe Üniversitesi Açık Erişim SistemiArticle . 2015Data sources: Hacettepe Üniversitesi Açık Erişim SistemiRecolector de Ciencia Abierta, RECOLECTAArticle . 2015Data sources: Recolector de Ciencia Abierta, RECOLECTAadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eu description Publicationkeyboard_double_arrow_right Article , Preprint 2016 CanadaThe Royal Society EC | OBJECTPOPCODESIMMMEC| OBJECTPOPCODESIMMMAuthors: Nikolaus Kriegeskorte; Jörn Diedrichsen;Nikolaus Kriegeskorte; Jörn Diedrichsen;High-resolution functional imaging is providing increasingly rich measurements of brain activity in animals and humans. A major challenge is to leverage such data to gain insight into the brain's computational mechanisms. The first step is to define candidate brain-computational models (BCMs) that can perform the behavioural task in question. We would then like to infer, which of the candidate BCMs best accounts for measured brain-activity data. Here we describe a method that complements each BCM by a measurement model (MM), which simulates the way the brain-activity measurements reflect neuronal activity (e.g. local averaging in fMRI voxels or sparse sampling in array recordings). The resulting generative model (BCM-MM) produces simulated measurements. In order to avoid having to fit the MM to predict each individual measurement channel of the brain-activity data, we compare the measured and predicted data at the level of summary statistics. We describe a novel particular implementation of this approach, called probabilistic RSA (pRSA) with measurement models, which uses representational dissimilarity matrices (RDMs) as the summary statistics. We validate this method by simulations of fMRI measurements (locally averaging voxels) based on a deep convolutional neural network for visual object recognition. Results indicate that the way the measurements sample the activity patterns strongly affects the apparent representational dissimilarities. However, modelling of the measurement process can account for these effects and different BCMs remain distinguishable even under substantial noise. The pRSA method enables us to perform Bayesian inference on the set of BCMs and to recognise the data-generating model in each case. Comment: 25 pages, 9 figures
Europe PubMed Centra... arrow_drop_down Philosophical Transactions of the Royal Society B Biological SciencesArticleLicense: CC BYData sources: UnpayWallPhilosophical Transactions of the Royal Society B Biological SciencesArticle . 2016License: Royal Society Data Sharing and Accessibilityadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1098/rstb.2016.0278&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu36 citations 36 popularity Top 10% influence Top 10% impulse Top 10% Powered by BIP!more_vert Europe PubMed Centra... arrow_drop_down Philosophical Transactions of the Royal Society B Biological SciencesArticleLicense: CC BYData sources: UnpayWallPhilosophical Transactions of the Royal Society B Biological SciencesArticle . 2016License: Royal Society Data Sharing and Accessibilityadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1098/rstb.2016.0278&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2013 Netherlands, Argentina, CanadaElsevier BV EC | NEWMEDS, WT, UKRI | Plasticity-related mechan...EC| NEWMEDS ,WT ,UKRI| Plasticity-related mechanisms involved in memory and pattern separation in the medial temporal lobeBekinschtein; Pedro; Kent; Brianne A.; Oomen; Charlotte A.; Clemenson; Gregory D.; Gage; Fred H.; Saksida; Lisa M.; Bussey; Timothy J.;pmc: PMC3898274
pmid: 24209752
Summary Successful memory involves not only remembering information over time, but also keeping memories distinct and less confusable. The computational process for making representations for similar input patterns more distinct from each other has been referred to as “pattern separation.” In this work, we developed a set of behavioral conditions that allowed us to manipulate the load for pattern separation at different stages of memory. Thus, we provide experimental evidence that a brain-derived neurotrophic factor (BDNF)-dependent pattern separation process occurs during the encoding/storage/consolidation, but not the retrieval stage of memory processing. We also found that a spontaneous increase in BDNF in the dentate gyrus of the hippocampus is associated with exposure to landmarks delineating similar, but not dissimilar, spatial locations, suggesting that BDNF is expressed on an “as-needed” basis for pattern separation. To be able to keep memories of similar events separate and distinct, the brain is thought to disambiguate complex input information by a process known as pattern separation. Here, Bekinschtein and colleagues describe a role for BDNF in the dentate gyrus in pattern separation that is shown to happen during encoding and storage/consolidation of memories. Highlights • BDNF in the dentate gyrus is needed for pattern separation • Pattern separation occurs during the encoding/consolidation stage of memory • BDNF is expressed in a spontaneous “as-needed” manner for pattern separation • BDNF enhances consolidation of pattern-separated memories Graphical Abstract
NARCIS; Radboud Repo... arrow_drop_down CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y TécnicasArticle . 2013License: CC BY NC SAadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1016/j.celrep.2013.09.027&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu119 citations 119 popularity Top 1% influence Top 10% impulse Top 1% Powered by BIP!visibility 0visibility views 0 download downloads 4 Powered bymore_vert NARCIS; Radboud Repo... arrow_drop_down CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y TécnicasArticle . 2013License: CC BY NC SAadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1016/j.celrep.2013.09.027&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Other literature type 2014 CanadaProceedings of the National Academy of Sciences EC | OBJECTPOPCODESIMMMEC| OBJECTPOPCODESIMMMCharest, Ian; Kievit, Rogier A.; Schmitz, Taylor W.; Deca, Diana; Kriegeskorte, Nikolaus; Ungerleider, Leslie G.;The unique way in which each of us perceives the world must arise from our brain representations. If brain imaging could reveal an individual's unique mental representation, it could help us understand the biological substrate of our individual experiential worlds in mental health and disease. However, imaging studies of object vision have focused on commonalities between individuals rather than individual differences and on category averages rather than representations of particular objects. Here we investigate the individually unique component of brain representations of particular objects with functional MRI (fMRI). Subjects were presented with unfamiliar and personally meaningful object images while we measured their brain activity on two separate days. We characterized the representational geometry by the dissimilarity matrix of activity patterns elicited by particular object images. The representational geometry remained stable across scanning days and was unique in each individual in early visual cortex and human inferior temporal cortex (hIT). The hIT representation predicted perceived similarity as reflected in dissimilarity judgments. Importantly, hIT predicted the individually unique component of the judgments when the objects were personally meaningful. Our results suggest that hIT brain representational idiosyncrasies accessible to fMRI are expressed in an individual's perceptual judgments. The unique way each of us perceives the world thus might reflect the individually unique representation in high-level visual areas.
add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1073/pnas.1402594111&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu126 citations 126 popularity Top 1% influence Top 10% impulse Top 10% Powered by BIP!more_vert add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1073/pnas.1402594111&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2020 Denmark, Denmark, Italy, Spain, Canada, Belgium, NetherlandsWiley EC | DALIEC| DALIRodrigo Antunes Lima; Gernot Desoye; David Simmons; Roland Devlieger; Sander Galjaard; Rosa Corcoy; Juan M. Adelantado; Fidelma Dunne; Jürgen Harreiter; Alexandra Kautzky-Willer; Peter Damm; Elisabeth R. Mathiesen; Dorte Møller Jensen; Lise Lotte Torvin Andersen; Mette Tanvig; Annunziata Lapolla; Maria Grazia Dalfrà; Alessandra Bertolotto; Ewa Wender-Ozegowska; Agnieszka Zawiejska; David Hill; Frank J. Snoek; Judith G. M. Jelsma; Mireille N M van Poppel;SummaryObjectivesTo investigate the importance of time in pregnancy and neonatal sex on the association between maternal metabolic parameters and neonatal sum of skinfolds.MethodsThis was a longitudinal, secondary analysis of the vitamin D and lifestyle intervention for gestational diabetes mellitus study, conducted in nine European countries during 2012 to 2015. Pregnant women with a pre‐pregnancy body mass index (BMI) of ≥29 kg/m2 were invited to participate. We measured 14 maternal metabolic parameters at three times during pregnancy: <20 weeks, 24 to 28 weeks, and 35 to 37 weeks of gestation. The sum of four skinfolds assessed within 2 days after birth was the measure of neonatal adiposity.ResultsIn total, 458 mother‐infant pairs (50.2% female infants) were included. Insulin resistance (fasting insulin and HOMA‐index of insulin resistance) in early pregnancy was an important predictor for boys' sum of skinfolds, in addition to fasting glucose and maternal adiposity (leptin, BMI and neck circumference) throughout pregnancy. In girls, maternal lipids (triglycerides and fatty acids) in the first half of pregnancy were important predictors of sum of skinfolds, as well as fasting glucose in the second half of pregnancy.ConclusionsAssociations between maternal metabolic parameters and neonatal adiposity vary between different periods during pregnancy. This time‐dependency is different between sexes, suggesting different growth strategies.
NARCIS; Pediatric Ob... arrow_drop_down NARCIS; Pediatric ObesityArticle . 2020University of Southern Denmark Research OutputArticle . 2020Data sources: University of Southern Denmark Research OutputCopenhagen University Research Information SystemArticle . 2020Data sources: Copenhagen University Research Information SystemDipòsit Digital de Documents de la UABArticle . 2020License: CC BYData sources: Dipòsit Digital de Documents de la UABRecolector de Ciencia Abierta, RECOLECTAArticle . 2020Data sources: Recolector de Ciencia Abierta, RECOLECTAadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eu11 citations 11 popularity Top 10% influence Average impulse Top 10% Powered by BIP!more_vert NARCIS; Pediatric Ob... arrow_drop_down NARCIS; Pediatric ObesityArticle . 2020University of Southern Denmark Research OutputArticle . 2020Data sources: University of Southern Denmark Research OutputCopenhagen University Research Information SystemArticle . 2020Data sources: Copenhagen University Research Information SystemDipòsit Digital de Documents de la UABArticle . 2020License: CC BYData sources: Dipòsit Digital de Documents de la UABRecolector de Ciencia Abierta, RECOLECTAArticle . 2020Data sources: Recolector de Ciencia Abierta, RECOLECTAadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
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description Publicationkeyboard_double_arrow_right Article , Preprint 2018 CanadaCold Spring Harbor Laboratory EC | VirtualBrainCloud, EC | BrainModes, EC | HBP SGA2 +1 projectsEC| VirtualBrainCloud ,EC| BrainModes ,EC| HBP SGA2 ,CIHRShen, Kelly; Bezgin, Gleb; Schirner, Michael; Ritter, Petra; Everling, Stefan; McIntosh, Anthony R.;Models of large-scale brain networks that are informed by the underlying anatomical connectivity contribute to our understanding of the mapping between the structure of the brain and its dynamical function. Connectome-based modelling is a promising approach to a more comprehensive understanding of brain function across spatial and temporal scales, but it must be constrained by multi-scale empirical data from animal models. Here we describe the construction of a macaque (Macaca mulatta and Macaca fascicularis) connectome for whole-cortex simulations in TheVirtualBrain, an open-source simulation platform. We take advantage of available axonal tract-tracing datasets and enhance the existing connectome data using diffusion-based tractography in macaques. We illustrate the utility of the connectome as an extension of TheVirtualBrain by simulating resting-state BOLD-fMRI data and fitting it to empirical resting-state data. Design Type(s)data integration objective • source-based data transformation objective • modeling and simulation objectiveMeasurement Type(s)brain measurementTechnology Type(s)functional magnetic resonance imaging • Diffusion Weighted ImagingFactor Type(s)Sample Characteristic(s)Macaca • brain Machine-accessible metadata file describing the reported data (ISA-Tab format)
add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1101/480905&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu49 citations 49 popularity Top 1% influence Average impulse Top 10% Powered by BIP!more_vert add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1101/480905&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2020 Netherlands, Denmark, Denmark, Spain, Italy, Belgium, CanadaWiley EC | DALIEC| DALIRodrigo Antunes Lima; Gernot Desoye; David Simmons; Roland Devlieger; Sander Galjaard; Rosa Corcoy; Juan M. Adelantado; Fidelma Dunne; Jürgen Harreiter; Alexandra Kautzky-Willer; Peter Damm; Elisabeth R. Mathiesen; Dorte Møller Jensen; Lise Lotte Torvin Andersen; Mette Tanvig; Annunziata Lapolla; Maria Grazia Dalfrà; Alessandra Bertolotto; Urszula Manta; Ewa Wender-Ozegowska; Agnieszka Zawiejska; David Hill; Frank J. Snoek; Judith G. M. Jelsma; Mireille N M van Poppel;AbstractBackgroundAlthough previous studies evaluated the association of maternal health parameters with neonatal adiposity, little is known regarding the complexity of the relationships among different maternal health parameters throughout pregnancy and its impact on neonatal adiposity.ObjectivesTo evaluate the direct and indirect associations between maternal insulin resistance during pregnancy, in women with obesity, and neonatal adiposity. In addition, associations between maternal fasting glucose, triglycerides (TG), non‐esterified fatty acids (NEFA), and neonatal adiposity were also assessed.MethodsThis is a longitudinal, secondary analysis of the DALI study, an international project conducted in nine European countries with pregnant women with obesity. Maternal insulin resistance (HOMA‐IR), fasting glucose, TG, and NEFA were measured three times during pregnancy (<20, 24‐28, and 35‐37 weeks of gestation). Offspring neonatal adiposity was estimated by the sum of four skinfolds. Structural equation modelling was conducted to evaluate the direct and indirect relationships among the variables of interest.ResultsData on 657 mother‐infant pairs (50.7% boys) were analysed. Neonatal boys exhibited lower mean sum of skinfolds compared to girls (20.3 mm, 95% CI 19.7, 21.0 vs 21.5 mm, 95% CI 20.8, 22.2). In boys, maternal HOMA‐IR at <20 weeks was directly associated with neonatal adiposity (β = 0.35 mm, 95% CI 0.01, 0.70). In girls, maternal HOMA‐IR at 24‐28 weeks was only indirectly associated with neonatal adiposity, which implies that this association was mediated via maternal HOMA‐IR, glucose, triglycerides, and NEFA during pregnancy (β = 0.26 mm, 95% CI 0.08, 0.44).ConclusionsThe timing of the role of maternal insulin resistance on neonatal adiposity depends on fetal sex. Although the association was time‐dependent, maternal insulin resistance was associated with neonatal adiposity in both sexes.
NARCIS arrow_drop_down Paediatric and Perinatal EpidemiologyArticle . 2021Data sources: University of Southern Denmark Research OutputRecolector de Ciencia Abierta, RECOLECTA; Dipòsit Digital de Documents de la UABArticle . 2021License: CC BYRecolector de Ciencia Abierta, RECOLECTAArticle . 2021Data sources: Recolector de Ciencia Abierta, RECOLECTACopenhagen University Research Information SystemArticle . 2021Data sources: Copenhagen University Research Information SystemRecolector de Ciencia Abierta, RECOLECTAArticleData sources: Recolector de Ciencia Abierta, RECOLECTAUniversity of Southern Denmark Research OutputArticle . 2021Data sources: University of Southern Denmark Research Outputadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1111/ppe.12682&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu7 citations 7 popularity Top 10% influence Average impulse Top 10% Powered by BIP!more_vert NARCIS arrow_drop_down Paediatric and Perinatal EpidemiologyArticle . 2021Data sources: University of Southern Denmark Research OutputRecolector de Ciencia Abierta, RECOLECTA; Dipòsit Digital de Documents de la UABArticle . 2021License: CC BYRecolector de Ciencia Abierta, RECOLECTAArticle . 2021Data sources: Recolector de Ciencia Abierta, RECOLECTACopenhagen University Research Information SystemArticle . 2021Data sources: Copenhagen University Research Information SystemRecolector de Ciencia Abierta, RECOLECTAArticleData sources: Recolector de Ciencia Abierta, RECOLECTAUniversity of Southern Denmark Research OutputArticle . 2021Data sources: University of Southern Denmark Research Outputadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Other literature type 2022 United Kingdom, Italy, Netherlands, Spain, Belgium, Canada, Netherlands, Belgium, Netherlands, Italy, Netherlands, Italy, United Kingdom, Germany, ItalySpringer Science and Business Media LLC UKRI | Developing an evidence ba..., EC | MIRIADE, CIHR +3 projectsUKRI| Developing an evidence base for trials in genetic frontotemporal dementia - measures of disease onset and progression ,EC| MIRIADE ,CIHR ,WT| Bridging the gap: biophysical models of human frontotemporal lobar degeneration ,UKRI| The UK GENetic Frontotemporal dementia Initiative (UK GENFI) ,EC| PATHADSogorb-Esteve, Aitana; Nilsson, Johanna; Borroni, Barbara; Balasa, Mircea; Bargalló, Nuria; Borrego-Ecija, Sergi; de Mendonça, Alexandre; Verdelho, Ana; Maruta, Carolina; Ferreira, Catarina B; Miltenberger, Gabriel; do Couto, Frederico Simões; Gabilondo, Alazne; Galimberti, Daniela; Gorostidi, Ana; Villanua, Jorge; Cañada, Marta; Tainta, Mikel; Zulaica, Miren; Barandiaran, Myriam; Alves, Patricia; Bender, Benjamin; Wilke, Carlo; Graf, Lisa; Sanchez-Valle, Raquel; Vogels, Annick; Vandenbulcke, Mathieu; Van Damme, Philip; Bruffaerts, Rose; Poesen, Koen; Rosa-Neto, Pedro; Gauthier, Serge; Camuzat, Agnès; Brice, Alexis; Bertrand, Anne; Laforce, Robert; Funkiewiez, Aurélie; Rinaldi, Daisy; Saracino, Dario; Colliot, Olivier; Sayah, Sabrina; Prix, Catharina; Wlasich, Elisabeth; Wagemann, Olivia; Loosli, Sandra; Schönecker, Sonja; Moreno, Fermin; Hoegen, Tobias; Lombardi, Jolina; Anderl-Straub, Sarah; Rollin, Adeline; Kuchcinski, Gregory; Bertoux, Maxime; Lebouvier, Thibaud; Deramecourt, Vincent; Santiago, Beatriz; Duro, Diana; Synofzik, Matthis; Leitão, Maria João; Almeida, Maria Rosario; Tábuas-Pereira, Miguel; Afonso, Sónia; Graff, Caroline; Masellis, Mario; Tartaglia, Maria Carmela; Rowe, James B; Swift, Imogen J; Vandenberghe, Rik; Finger, Elizabeth; Tagliavini, Fabrizio; Santana, Isabel; Butler, Chris R; Ducharme, Simon; Gerhard, Alexander; Danek, Adrian; Levin, Johannes; Otto, Markus; Heller, Carolin; Sorbi, Sandro; Le Ber, Isabelle; Pasquier, Florence; Gobom, Johan; Brinkmalm, Ann; Blennow, Kaj; Zetterberg, Henrik; Rohrer, Jonathan D; Initiative, GENetic FTD; Nelson, Annabel; Bocchetta, Martina; Bouzigues, Arabella; Greaves, Caroline V; Cash, David; Thomas, David L; Todd, Emily; Benotmane, Hanya; Nicholas, Jennifer; Samra, Kiran; Shafei, Rachelle; Timberlake, Carolyn; Russell, Lucy L; Cope, Thomas; Rittman, Timothy; Benussi, Alberto; Premi, Enrico; Gasparotti, Roberto; Archetti, Silvana; Gazzina, Stefano; Cantoni, Valentina; Arighi, Andrea; Fenoglio, Chiara; Peakman, Georgia; Scarpini, Elio; Fumagalli, Giorgio; Borracci, Vittoria; Rossi, Giacomina; Giaccone, Giorgio; Di Fede, Giuseppe; Caroppo, Paola; Tiraboschi, Pietro; Prioni, Sara; Redaelli, Veronica; Convery, Rhian S; Tang-Wai, David; Rogaeva, Ekaterina; Castelo-Branco, Miguel; Freedman, Morris; Keren, Ron; Black, Sandra; Mitchell, Sara; Shoesmith, Christen; Bartha, Robart; Rademakers, Rosa; van Swieten, John C; Poos, Jackie; Papma, Janne M; Giannini, Lucia; van Minkelen, Rick; Pijnenburg, Yolande; Nacmias, Benedetta; Ferrari, Camilla; Polito, Cristina; Lombardi, Gemma; Bessi, Valentina; Seelaar, Harro; Veldsman, Michele; Andersson, Christin; Thonberg, Hakan; Öijerstedt, Linn; Jelic, Vesna; Thompson, Paul; Langheinrich, Tobias; Lladó, Albert; Antonell, Anna; Olives, Jaume;handle: 2445/202137 , 11572/357782 , 2158/1286404 , 10067/1899560151162165141 , 2434/943676 , 11379/563127
pmid: 36045450
pmc: PMC9429339
handle: 2445/202137 , 11572/357782 , 2158/1286404 , 10067/1899560151162165141 , 2434/943676 , 11379/563127
pmid: 36045450
pmc: PMC9429339
Abstract Background Approximately a third of frontotemporal dementia (FTD) is genetic with mutations in three genes accounting for most of the inheritance: C9orf72, GRN, and MAPT. Impaired synaptic health is a common mechanism in all three genetic variants, so developing fluid biomarkers of this process could be useful as a readout of cellular dysfunction within therapeutic trials. Methods A total of 193 cerebrospinal fluid (CSF) samples from the GENetic FTD Initiative including 77 presymptomatic (31 C9orf72, 23 GRN, 23 MAPT) and 55 symptomatic (26 C9orf72, 17 GRN, 12 MAPT) mutation carriers as well as 61 mutation-negative controls were measured using a microflow LC PRM-MS set-up targeting 15 synaptic proteins: AP-2 complex subunit beta, complexin-2, beta-synuclein, gamma-synuclein, 14–3-3 proteins (eta, epsilon, zeta/delta), neurogranin, Rab GDP dissociation inhibitor alpha (Rab GDI alpha), syntaxin-1B, syntaxin-7, phosphatidylethanolamine-binding protein 1 (PEBP-1), neuronal pentraxin receptor (NPTXR), neuronal pentraxin 1 (NPTX1), and neuronal pentraxin 2 (NPTX2). Mutation carrier groups were compared to each other and to controls using a bootstrapped linear regression model, adjusting for age and sex. Results CSF levels of eight proteins were increased only in symptomatic MAPT mutation carriers (compared with controls) and not in symptomatic C9orf72 or GRN mutation carriers: beta-synuclein, gamma-synuclein, 14–3-3-eta, neurogranin, Rab GDI alpha, syntaxin-1B, syntaxin-7, and PEBP-1, with three other proteins increased in MAPT mutation carriers compared with the other genetic groups (AP-2 complex subunit beta, complexin-2, and 14–3-3 zeta/delta). In contrast, CSF NPTX1 and NPTX2 levels were affected in all three genetic groups (decreased compared with controls), with NPTXR concentrations being affected in C9orf72 and GRN mutation carriers only (decreased compared with controls). No changes were seen in the CSF levels of these proteins in presymptomatic mutation carriers. Concentrations of the neuronal pentraxins were correlated with brain volumes in the presymptomatic period for the C9orf72 and GRN groups, suggesting that they become abnormal in proximity to symptom onset. Conclusions Differential synaptic impairment is seen in the genetic forms of FTD, with abnormalities in multiple measures in those with MAPT mutations, but only changes in neuronal pentraxins within the GRN and C9orf72 mutation groups. Such markers may be useful in future trials as measures of synaptic dysfunction, but further work is needed to understand how these markers change throughout the course of the disease.
IRIS - Institutional... arrow_drop_down NARCIS; Alzheimer’s Research & TherapyArticle . 2022Institutional Repository Universiteit AntwerpenArticle . 2022Data sources: Institutional Repository Universiteit AntwerpenRecolector de Ciencia Abierta, RECOLECTA; Diposit Digital de la Universitat de BarcelonaArticle . 2022License: CC BYBrunel University Research ArchiveArticle . 2022License: CC BYData sources: Brunel University Research ArchiveUniversitätsbibliographie, Universität Duisburg-EssenArticle . 2022Data sources: Universitätsbibliographie, Universität Duisburg-Essenadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eu8 citations 8 popularity Top 10% influence Average impulse Top 10% Powered by BIP!more_vert IRIS - Institutional... arrow_drop_down NARCIS; Alzheimer’s Research & TherapyArticle . 2022Institutional Repository Universiteit AntwerpenArticle . 2022Data sources: Institutional Repository Universiteit AntwerpenRecolector de Ciencia Abierta, RECOLECTA; Diposit Digital de la Universitat de BarcelonaArticle . 2022License: CC BYBrunel University Research ArchiveArticle . 2022License: CC BYData sources: Brunel University Research ArchiveUniversitätsbibliographie, Universität Duisburg-EssenArticle . 2022Data sources: Universitätsbibliographie, Universität Duisburg-Essenadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2021 Italy, Netherlands, Italy, Netherlands, Portugal, Canada, Italy, Germany, Italy, Netherlands, Netherlands, United Kingdom, Portugal, BelgiumElsevier BV EC | Solve-RDEC| Solve-RDSergi Borrego-Écija; Roser Sala-Llonch; John C. van Swieten; Barbara Borroni; Fermin Moreno; Mario Masellis; Carmela Tartaglia; Caroline Graff; Daniela Galimberti; Robert Laforce; James B. Rowe; Elizabeth Finger; Rik Vandenberghe; Fabrizio Tagliavini; Alexandre de Mendonça; Isabel Santana; Matthis Synofzik; Simon Ducharme; Johannes Levin; Adrian Danek; Alexander Gerhard; Markus Otto; Christopher C Butler; Giovanni B. Frisoni; Sandro Sorbi; Carolin Heller; Martina Bocchetta; David M. Cash; Rhian S Convery; Katrina M. Moore; Jonathan D. Rohrer; Raquel Sánchez-Valle; Martin N. Rossor; Nick C. Fox; Ione O.C. Woollacott; Rachelle Shafei; Caroline V. Greaves; Mollie Neason; Rita Guerreiro; Jose Bras; David L. Thomas; Jennifer M. Nicholas; Simon Mead; Lieke H.H. Meeter; Jessica L. Panman; Janne M. Papma; Rick van Minkelen; Yolande A.L. Pijnenburg; Begoña Indakoetxea; Alazne Gabilondo; Mikel TaintaMD; Maria de Arriba; Ana Gorostidi; Miren Zulaica; Jorge Villanua; Zigor Diaz; Jaume Olives; Albert Lladó; Mircea Balasa; Anna Antonell; Núria Bargalló; Enrico Premi; Maura Cosseddu; Stefano Gazzina; Alessandro Padovani; Roberto Gasparotti; Silvana Archetti; Sandra E. Black; Sara Mitchell; Ekaterina Rogaeva; Morris Freedman; Ron Keren; David F. Tang-Wai; Linn Öijerstedt; Christin Andersson; Vesna Jelic; Håkan Thonberg; Andrea Arighi; Chiara Fenoglio; Elio Scarpini; Giorgio Fumagalli; Thomas E. Cope; Carolyn Timberlake; Timothy Rittman; Christen Shoesmith; Robart Bartha; Rosa Rademakers; Carlo Wilke; Benjamin Bender; Rose Bruffaerts; Philip Vandamme; Mathieu Vandenbulcke; Carolina Maruta; C. Ferreira; Gabriel Miltenberger; Ana Verdelho; Sónia Afonso; Ricardo Taipa; Paola Caroppo; Giuseppe Di Fede; Giorgio Giaccone; Sara Prioni; Veronica Redaelli; Giacomina Rossi; Pietro Tiraboschi; Diana Duro; Maria Rosário Almeida; Miguel Castelo-Branco; Maria João Leitão; Miguel Tábuas-Pereira; Beatriz Santiago; Serge Gauthier; Pedro Rosa-Neto; Michele Veldsman; Toby Flanagan; Catharina Prix; Tobias Hoegen; Elisabeth Wlasich; Sandra V. Loosli; Sonja Schönecker; Elisa Semler; Sarah Anderl-Straub;handle: 10451/46269 , 2158/1230440 , 11379/576269 , 11572/355946 , 10400.16/2850 , 2434/902153
pmc: PMC7804836
pmid: 33418170
handle: 10451/46269 , 2158/1230440 , 11379/576269 , 11572/355946 , 10400.16/2850 , 2434/902153
pmc: PMC7804836
pmid: 33418170
The authors thank all the volunteers for their participation in this study. SBE is a recipient of the Rio-Hortega post-residency grant from the Instituto de Salud Carlos III, Spain. This study was partially funded by Fundació Marató de TV3, Spain (grant no. 20143810 to RSV). The GENFI study has been supported by the Medical Research Council UK, the Italian Ministry of Health and the Canadian Institutes of Health Research as part of a Centres of Excellence in Neurodegeneration grant, as well as other individual funding to investigators. KM has received funding from an Alzheimer’s Society PhD studentship. JDR acknowledges support from the National Institute for Health Research (NIHR) Queen Square Dementia Biomedical Research Unit and the University College London Hospitals Biomedical Research Centre, the Leonard Wolfson Experimental Neurology Centre, the UK Dementia Research Institute, Alzheimer’s Research UK, the Brain Research Trust and the Wolfson Foundation. JCvS was supported by the Dioraphte Foundation grant 09-02-03-00, the Association for Frontotemporal Dementias Research Grant 2009, The Netherlands Organization for Scientific Research (NWO) grant HCMI 056-13-018, ZonMw Memorabel (Deltaplan Dementie, project number 733 051 042), Alzheimer Nederland and the Bluefield project. CG have received funding from JPND-Prefrontals VR Dnr 529-2014-7504, VR: 2015-02926, and 2018-02754, the Swedish FTD Initiative-Schörling Foundation, Alzheimer Foundation, Brain Foundation and Stockholm County Council ALF. DG has received support from the EU Joint Programme – Neurodegenerative Disease Research (JPND) and the Italian Ministry of Health (PreFrontALS) grant 733051042. JBR is funded by the Wellcome Trust (103838) and the National Institute for Health Research (NIHR) Cambridge Biomedical Research Centre. MM has received funding from a Canadian Institutes of Health Research operating grant and the Weston Brain Institute and Ontario Brain Institute. RV has received funding from the Mady Browaeys Fund for Research into Frontotemporal Dementia. EF has received funding from a CIHR grant #327387. JDR is an MRC Clinician Scientist (MR/M008525/1) and has received funding from the NIHR Rare Diseases Translational Research Collaboration (BRC149/NS/MH), the Bluefield Project and the Association for Frontotemporal Degeneration. MS was supported by a grant 779257 “Solve-RD” from the Horizon 2020 research and innovation programme. Mutations in the granulin gene (GRN) cause familial frontotemporal dementia. Understanding the structural brain changes in presymptomatic GRN carriers would enforce the use of neuroimaging biomarkers for early diagnosis and monitoring. We studied 100 presymptomatic GRN mutation carriers and 94 noncarriers from the Genetic Frontotemporal dementia initiative (GENFI), with MRI structural images. We analyzed 3T MRI structural images using the FreeSurfer pipeline to calculate the whole brain cortical thickness (CTh) for each subject. We also perform a vertex-wise general linear model to assess differences between groups in the relationship between CTh and diverse covariables as gender, age, the estimated years to onset and education. We also explored differences according to TMEM106B genotype, a possible disease modifier. Whole brain CTh did not differ between carriers and noncarriers. Both groups showed age-related cortical thinning. The group-by-age interaction analysis showed that this age-related cortical thinning was significantly greater in GRN carriers in the left superior frontal cortex. TMEM106B did not significantly influence the age-related cortical thinning. Our results validate and expand previous findings suggesting an increased CTh loss associated with age and estimated proximity to symptoms onset in GRN carriers, even before the disease onset. © 2020 The Authors. Published by Elsevier Inc. This is an open access article under the CC BY-NC-ND license.
Europe PubMed Centra... arrow_drop_down Spiral - Imperial College Digital RepositoryArticle . 2020License: CC BY NC NDData sources: Spiral - Imperial College Digital RepositoryLAReferencia - Red Federada de Repositorios Institucionales de Publicaciones Científicas Latinoamericanas; Universidade de Lisboa: Repositório.ULOther literature type . Article . 2021License: CC BY NC NDRepositório Científico do Centro Hospitalar do PortoArticle . 2021License: CC BYData sources: Repositório Científico do Centro Hospitalar do PortoFlore (Florence Research Repository)Article . 2021Data sources: Flore (Florence Research Repository)add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eu7 citations 7 popularity Top 10% influence Average impulse Top 10% Powered by BIP!visibility 92visibility views 92 download downloads 135 Powered bymore_vert Europe PubMed Centra... arrow_drop_down Spiral - Imperial College Digital RepositoryArticle . 2020License: CC BY NC NDData sources: Spiral - Imperial College Digital RepositoryLAReferencia - Red Federada de Repositorios Institucionales de Publicaciones Científicas Latinoamericanas; Universidade de Lisboa: Repositório.ULOther literature type . Article . 2021License: CC BY NC NDRepositório Científico do Centro Hospitalar do PortoArticle . 2021License: CC BYData sources: Repositório Científico do Centro Hospitalar do PortoFlore (Florence Research Repository)Article . 2021Data sources: Flore (Florence Research Repository)add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2019 Netherlands, CanadaElsevier BV EC | BrainBehaviourModel, WTEC| BrainBehaviourModel ,WTAuthors: Svenja Espenhahn; Bernadette C.M. van Wijk; Holly E. Rossiter; Archy O. de Berker; +4 AuthorsSvenja Espenhahn; Bernadette C.M. van Wijk; Holly E. Rossiter; Archy O. de Berker; Nell D. Redman; Jane M. Rondina; Jörn Diedrichsen; Nick S. Ward;pmid: 30954709
pmc: PMC6547051
© 2019 The Authors People vary in their capacity to learn and retain new motor skills. Although the relationship between neuronal oscillations in the beta frequency range (15–30 Hz) and motor behaviour is well established, the electrophysiological mechanisms underlying individual differences in motor learning are incompletely understood. Here, we investigated the degree to which measures of resting and movement-related beta power from sensorimotor cortex account for inter-individual differences in motor learning behaviour in the young and elderly. Twenty young (18–30 years) and twenty elderly (62–77 years) healthy adults were trained on a novel wrist flexion/extension tracking task and subsequently retested at two different time points (45–60 min and 24 h after initial training). Scalp EEG was recorded during a separate simple motor task before each training and retest session. Although short-term motor learning was comparable between young and elderly individuals, there was considerable variability within groups with subsequent analysis aiming to find the predictors of this variability. As expected, performance during the training phase was the best predictor of performance at later time points. However, regression analysis revealed that movement-related beta activity significantly explained additional variance in individual performance levels 45–60 min, but not 24 h after initial training. In the context of disease, these findings suggest that measurements of beta-band activity may offer novel targets for therapeutic interventions designed to promote rehabilitative outcomes.
add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eu46 citations 46 popularity Top 10% influence Average impulse Top 1% Powered by BIP!visibility 0visibility views 0 download downloads 11 Powered bymore_vert add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eu- The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations
description Publicationkeyboard_double_arrow_right Article , Other literature type 2015 Canada, Netherlands, France, Turkey, France, China (People's Republic of), Switzerland, SpainHindawi Limited EC | RD-CONNECT, EC | NEUROMICSEC| RD-CONNECT ,EC| NEUROMICSBladen, Catherine; Salgado, David; Monges, Soledad; Foncuberta, Maria E; Kekou, Kyriaki; Kosma, Konstantina; Dawkins, Hugh; Lamont, Leanne; Roy, Anna; Chamova, Teodora; Guergueltcheva, Velina; Chan, Sophelia; Korngut, Lawrence; Campbell, Craig; Dai, Yi; Wang, Jen; Barišić, Nina; Brabec, Petr; Lahdetie, Jaana; Walter, Maggie C; Schreiber-Katz, Olivia; Karcagi, Veronika; Garami, Marta; Viswanathan, Venkatarman; Bayat, Farhad; Buccella, Filippo; Kimura, En; Koeks, Zaïda; van den Bergen, Jan; Rodrigues, Miriam; Roxburgh, Richard; Lusakowska, Anna; Kostera-Pruszczyk, Anna; Zimowski, Jan; Santos, Rosário; Neagu, Elena; Artemieva, Svetlana; Rasic, Vedrana Milic; Vojinovic, Dina; Posada, Manuel; Bloetzer, Clemens; Jeannet, Pierre-Yves; Joncourt, Franziska; Díaz-Manera, Jordi; Gallardo, Eduard; Karaduman, a Ayşe; Topaloğlu, Haluk; El Sherif, Rasha; Stringer, Angela; Shatillo, Andriy V; Martin, Ann S; Peay, Holly L; Bellgard, Matthew I; Kirschner, Jan; Flanigan, Kevin M; Straub, Volker; Bushby, Kate; Verschuuren, Jan; Aartsma-Rus, Annemieke; Béroud, Christophe; Lochmuller, Hanns; Foncuberta, Maria E.; Walter, Maggie C.; Karaduman, A. Ayşe; Shatillo, Andriy V.; Martin, Ann S.; Peay, Holly L.; Bellgard, Matthew I.; Flanigan, Kevin M.;Analyzing the type and frequency of patient-specific mutations that give rise to Duchenne muscular dystrophy (DMD) is an invaluable tool for diagnostics, basic scientific research, trial planning, and improved clinical care. Locus-specific databases allow for the collection, organization, storage, and analysis of genetic variants of disease. Here, we describe the development and analysis of the TREAT-NMD DMD Global database (http://umd.be/TREAT_DMD/). We analyzed genetic data for 7,149 DMD mutations held within the database. A total of 5,682 large mutations were observed (80% of total mutations), of which 4,894 (86%) were deletions (1 exon or larger) and 784 (14%) were duplications (1 exon or larger). There were 1,445 small mutations (smaller than 1 exon, 20% of all mutations), of which 358 (25%) were small deletions and 132 (9%) small insertions and 199 (14%) affected the splice sites. Point mutations totalled 756 (52% of small mutations) with 726 (50%) nonsense mutations and 30 (2%) missense mutations. Finally, 22 (0.3%) mid-intronic mutations were observed. In addition, mutations were identified within the database that would potentially benefit from novel genetic therapies for DMD including stop codon read-through therapies (10% of total mutations) and exon skipping therapy (80% of deletions and 55% of total mutations). Contract grant sponsor(s): TREAT-NMD (FP6LSHM-CT-2006-036825, 20123307 UNEW_FY2013, and AFM 16104); European Union Seventh Framework Programme (FP7/2007-2013) (305444 [RD-Connect] and 305121 [Neuromics]). Sí
Europe PubMed Centra... arrow_drop_down Bern Open Repository and Information System (BORIS)Article . 2015Data sources: Bern Open Repository and Information System (BORIS)Hacettepe Üniversitesi Açık Erişim SistemiArticle . 2015Data sources: Hacettepe Üniversitesi Açık Erişim SistemiRecolector de Ciencia Abierta, RECOLECTAArticle . 2015Data sources: Recolector de Ciencia Abierta, RECOLECTAadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eu498 citations 498 popularity Top 0.1% influence Top 1% impulse Top 0.1% Powered by BIP!more_vert Europe PubMed Centra... arrow_drop_down Bern Open Repository and Information System (BORIS)Article . 2015Data sources: Bern Open Repository and Information System (BORIS)Hacettepe Üniversitesi Açık Erişim SistemiArticle . 2015Data sources: Hacettepe Üniversitesi Açık Erişim SistemiRecolector de Ciencia Abierta, RECOLECTAArticle . 2015Data sources: Recolector de Ciencia Abierta, RECOLECTAadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1002/humu.22758&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu description Publicationkeyboard_double_arrow_right Article , Preprint 2016 CanadaThe Royal Society EC | OBJECTPOPCODESIMMMEC| OBJECTPOPCODESIMMMAuthors: Nikolaus Kriegeskorte; Jörn Diedrichsen;Nikolaus Kriegeskorte; Jörn Diedrichsen;High-resolution functional imaging is providing increasingly rich measurements of brain activity in animals and humans. A major challenge is to leverage such data to gain insight into the brain's computational mechanisms. The first step is to define candidate brain-computational models (BCMs) that can perform the behavioural task in question. We would then like to infer, which of the candidate BCMs best accounts for measured brain-activity data. Here we describe a method that complements each BCM by a measurement model (MM), which simulates the way the brain-activity measurements reflect neuronal activity (e.g. local averaging in fMRI voxels or sparse sampling in array recordings). The resulting generative model (BCM-MM) produces simulated measurements. In order to avoid having to fit the MM to predict each individual measurement channel of the brain-activity data, we compare the measured and predicted data at the level of summary statistics. We describe a novel particular implementation of this approach, called probabilistic RSA (pRSA) with measurement models, which uses representational dissimilarity matrices (RDMs) as the summary statistics. We validate this method by simulations of fMRI measurements (locally averaging voxels) based on a deep convolutional neural network for visual object recognition. Results indicate that the way the measurements sample the activity patterns strongly affects the apparent representational dissimilarities. However, modelling of the measurement process can account for these effects and different BCMs remain distinguishable even under substantial noise. The pRSA method enables us to perform Bayesian inference on the set of BCMs and to recognise the data-generating model in each case. Comment: 25 pages, 9 figures
Europe PubMed Centra... arrow_drop_down Philosophical Transactions of the Royal Society B Biological SciencesArticleLicense: CC BYData sources: UnpayWallPhilosophical Transactions of the Royal Society B Biological SciencesArticle . 2016License: Royal Society Data Sharing and Accessibilityadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1098/rstb.2016.0278&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu36 citations 36 popularity Top 10% influence Top 10% impulse Top 10% Powered by BIP!more_vert Europe PubMed Centra... arrow_drop_down Philosophical Transactions of the Royal Society B Biological SciencesArticleLicense: CC BYData sources: UnpayWallPhilosophical Transactions of the Royal Society B Biological SciencesArticle . 2016License: Royal Society Data Sharing and Accessibilityadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1098/rstb.2016.0278&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2013 Netherlands, Argentina, CanadaElsevier BV EC | NEWMEDS, WT, UKRI | Plasticity-related mechan...EC| NEWMEDS ,WT ,UKRI| Plasticity-related mechanisms involved in memory and pattern separation in the medial temporal lobeBekinschtein; Pedro; Kent; Brianne A.; Oomen; Charlotte A.; Clemenson; Gregory D.; Gage; Fred H.; Saksida; Lisa M.; Bussey; Timothy J.;pmc: PMC3898274
pmid: 24209752
Summary Successful memory involves not only remembering information over time, but also keeping memories distinct and less confusable. The computational process for making representations for similar input patterns more distinct from each other has been referred to as “pattern separation.” In this work, we developed a set of behavioral conditions that allowed us to manipulate the load for pattern separation at different stages of memory. Thus, we provide experimental evidence that a brain-derived neurotrophic factor (BDNF)-dependent pattern separation process occurs during the encoding/storage/consolidation, but not the retrieval stage of memory processing. We also found that a spontaneous increase in BDNF in the dentate gyrus of the hippocampus is associated with exposure to landmarks delineating similar, but not dissimilar, spatial locations, suggesting that BDNF is expressed on an “as-needed” basis for pattern separation. To be able to keep memories of similar events separate and distinct, the brain is thought to disambiguate complex input information by a process known as pattern separation. Here, Bekinschtein and colleagues describe a role for BDNF in the dentate gyrus in pattern separation that is shown to happen during encoding and storage/consolidation of memories. Highlights • BDNF in the dentate gyrus is needed for pattern separation • Pattern separation occurs during the encoding/consolidation stage of memory • BDNF is expressed in a spontaneous “as-needed” manner for pattern separation • BDNF enhances consolidation of pattern-separated memories Graphical Abstract
NARCIS; Radboud Repo... arrow_drop_down CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y TécnicasArticle . 2013License: CC BY NC SAadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1016/j.celrep.2013.09.027&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu119 citations 119 popularity Top 1% influence Top 10% impulse Top 1% Powered by BIP!visibility 0visibility views 0 download downloads 4 Powered bymore_vert NARCIS; Radboud Repo... arrow_drop_down CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y TécnicasArticle . 2013License: CC BY NC SAadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1016/j.celrep.2013.09.027&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Other literature type 2014 CanadaProceedings of the National Academy of Sciences EC | OBJECTPOPCODESIMMMEC| OBJECTPOPCODESIMMMCharest, Ian; Kievit, Rogier A.; Schmitz, Taylor W.; Deca, Diana; Kriegeskorte, Nikolaus; Ungerleider, Leslie G.;The unique way in which each of us perceives the world must arise from our brain representations. If brain imaging could reveal an individual's unique mental representation, it could help us understand the biological substrate of our individual experiential worlds in mental health and disease. However, imaging studies of object vision have focused on commonalities between individuals rather than individual differences and on category averages rather than representations of particular objects. Here we investigate the individually unique component of brain representations of particular objects with functional MRI (fMRI). Subjects were presented with unfamiliar and personally meaningful object images while we measured their brain activity on two separate days. We characterized the representational geometry by the dissimilarity matrix of activity patterns elicited by particular object images. The representational geometry remained stable across scanning days and was unique in each individual in early visual cortex and human inferior temporal cortex (hIT). The hIT representation predicted perceived similarity as reflected in dissimilarity judgments. Importantly, hIT predicted the individually unique component of the judgments when the objects were personally meaningful. Our results suggest that hIT brain representational idiosyncrasies accessible to fMRI are expressed in an individual's perceptual judgments. The unique way each of us perceives the world thus might reflect the individually unique representation in high-level visual areas.
add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1073/pnas.1402594111&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu126 citations 126 popularity Top 1% influence Top 10% impulse Top 10% Powered by BIP!more_vert add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1073/pnas.1402594111&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2020 Denmark, Denmark, Italy, Spain, Canada, Belgium, NetherlandsWiley EC | DALIEC| DALIRodrigo Antunes Lima; Gernot Desoye; David Simmons; Roland Devlieger; Sander Galjaard; Rosa Corcoy; Juan M. Adelantado; Fidelma Dunne; Jürgen Harreiter; Alexandra Kautzky-Willer; Peter Damm; Elisabeth R. Mathiesen; Dorte Møller Jensen; Lise Lotte Torvin Andersen; Mette Tanvig; Annunziata Lapolla; Maria Grazia Dalfrà; Alessandra Bertolotto; Ewa Wender-Ozegowska; Agnieszka Zawiejska; David Hill; Frank J. Snoek; Judith G. M. Jelsma; Mireille N M van Poppel;SummaryObjectivesTo investigate the importance of time in pregnancy and neonatal sex on the association between maternal metabolic parameters and neonatal sum of skinfolds.MethodsThis was a longitudinal, secondary analysis of the vitamin D and lifestyle intervention for gestational diabetes mellitus study, conducted in nine European countries during 2012 to 2015. Pregnant women with a pre‐pregnancy body mass index (BMI) of ≥29 kg/m2 were invited to participate. We measured 14 maternal metabolic parameters at three times during pregnancy: <20 weeks, 24 to 28 weeks, and 35 to 37 weeks of gestation. The sum of four skinfolds assessed within 2 days after birth was the measure of neonatal adiposity.ResultsIn total, 458 mother‐infant pairs (50.2% female infants) were included. Insulin resistance (fasting insulin and HOMA‐index of insulin resistance) in early pregnancy was an important predictor for boys' sum of skinfolds, in addition to fasting glucose and maternal adiposity (leptin, BMI and neck circumference) throughout pregnancy. In girls, maternal lipids (triglycerides and fatty acids) in the first half of pregnancy were important predictors of sum of skinfolds, as well as fasting glucose in the second half of pregnancy.ConclusionsAssociations between maternal metabolic parameters and neonatal adiposity vary between different periods during pregnancy. This time‐dependency is different between sexes, suggesting different growth strategies.
NARCIS; Pediatric Ob... arrow_drop_down NARCIS; Pediatric ObesityArticle . 2020University of Southern Denmark Research OutputArticle . 2020Data sources: University of Southern Denmark Research OutputCopenhagen University Research Information SystemArticle . 2020Data sources: Copenhagen University Research Information SystemDipòsit Digital de Documents de la UABArticle . 2020License: CC BYData sources: Dipòsit Digital de Documents de la UABRecolector de Ciencia Abierta, RECOLECTAArticle . 2020Data sources: Recolector de Ciencia Abierta, RECOLECTAadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1111/ijpo.12628&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu11 citations 11 popularity Top 10% influence Average impulse Top 10% Powered by BIP!more_vert NARCIS; Pediatric Ob... arrow_drop_down NARCIS; Pediatric ObesityArticle . 2020University of Southern Denmark Research OutputArticle . 2020Data sources: University of Southern Denmark Research OutputCopenhagen University Research Information SystemArticle . 2020Data sources: Copenhagen University Research Information SystemDipòsit Digital de Documents de la UABArticle . 2020License: CC BYData sources: Dipòsit Digital de Documents de la UABRecolector de Ciencia Abierta, RECOLECTAArticle . 2020Data sources: Recolector de Ciencia Abierta, RECOLECTAadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1111/ijpo.12628&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu