Loading
description Publicationkeyboard_double_arrow_right Article 2018 United KingdomElsevier BV Authors: Bigger, Brian W.; Begley, David J.; Virgintino, Daniela; Pshezhetsky, Alexey V.;Bigger, Brian W.; Begley, David J.; Virgintino, Daniela; Pshezhetsky, Alexey V.;pmid: 30145178
Mucopolysaccharidosis (MPS) disorders are caused by deficiencies in lysosomal enzymes, leading to impaired glycosaminoglycan (GAG) degradation. The resulting GAG accumulation in cells and connective tissues ultimately results in widespread tissue and organ dysfunction. The seven MPS types currently described are heterogeneous and progressive disorders, with somatic and neurological manifestations depending on the type of accumulating GAG. Heparan sulfate (HS) is one of the GAGs stored in patients with MPS I, II, and VII and the main GAG stored in patients with MPS III. These disorders are associated with significant central nervous system (CNS) abnormalities that can manifest as impaired cognition, hyperactive and/or aggressive behavior, epilepsy, hydrocephalus, and sleeping problems. This review discusses the anatomical and pathophysiological CNS changes accompanying HS accumulation as well as the mechanisms believed to cause CNS abnormalities in MPS patients. The content of this review is based on presentations and discussions on these topics during a meeting on the brain in MPS attended by an international group of MPS experts.
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=10.1016/j.ymgme.2018.08.003&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu73 citations 73 popularity Top 1% influence Top 10% impulse Top 1% 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=10.1016/j.ymgme.2018.08.003&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Other literature type 2018 Netherlands, Italy, United Kingdom, United StatesElsevier BV Tripathy, R; Leca, I; Van Dijk, T; Weiss, J; Van Bon, B; Sergaki, M; Gstrein, T; Breuss, M; Tian, G; Bahi-Buisson, N; Paciorkowski, A; Pagnamenta, A; Wenninger-Weinzierl, A; Martinez-Reza, M; Landler, L; Lise, S; Taylor, J; Terrone, G; Vitiello, G; Del Giudice, E; Brunetti-Pierri, N; D'Amico, A; Reymond, A; Voisin, N; Bernstein, J; Farrelly, E; Kini, U; Leonard, T; Valence, S; Burglen, L; Armstrong, L; Hiatt, S; Cooper, G; Aldinger, K; Dobyns, W; Mirzaa, G; Pierson, T; Baas, F; Chelly, J; Cowan, N; Keays, D;Corpus callosum malformations are associated with a broad range of neurodevelopmental diseases. We report that de novo mutations in MAST1 cause mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations (MCC-CH-CM) in the absence of megalencephaly. We show that MAST1 is a microtubule associated protein, that is predominantly expressed in post-mitotic neurons, and is present in both dendritic and axonal compartments. We further show that Mast1 null animals are phenotypically normal, whereas the deletion of a single amino acid (L278del) recapitulates the distinct neurological phenotype observed in patients. In animals harboring Mast1 microdeletions we find that the PI3K/AKT3/mTOR pathway is unperturbed, whereas Mast2 and Mast3 levels are diminished, indicative of a dominant negative mode of action. Finally, we report that de novo MAST1 substitutions are present in patients with autism and microcephaly, raising the prospect that mutations in this gene give rise to a spectrum of neurodevelopmental diseases.
Neuron arrow_drop_down Oxford University Research ArchiveOther literature type . 2019Data sources: Oxford University Research ArchiveeScholarship - University of CaliforniaArticle . 2018Data sources: eScholarship - University of CaliforniaNeuron; METIS Research Information System; NARCIS; Archivio della ricerca - Università degli studi di Napoli Federico IIArticle . 2018License: Elsevier Non-Commercialadd 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.neuron.2018.10.044&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!visibility 21visibility views 21 download downloads 9 Powered bymore_vert Neuron arrow_drop_down Oxford University Research ArchiveOther literature type . 2019Data sources: Oxford University Research ArchiveeScholarship - University of CaliforniaArticle . 2018Data sources: eScholarship - University of CaliforniaNeuron; METIS Research Information System; NARCIS; Archivio della ricerca - Università degli studi di Napoli Federico IIArticle . 2018License: Elsevier Non-Commercialadd 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.neuron.2018.10.044&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Other literature type 2018 Italy, BelgiumElsevier BV CIHR, WTCIHR ,WTSjoerd J. H. Ebisch; Vittorio Gallese; Anatolia Salone; Giovanni Martinotti; Giuseppe Di Iorio; Dante Mantini; Mauro Gianni Perrucci; Gian Luca Romani; Massimo Di Giannantonio; Georg Northoff;Schizophrenia has been described as a self-disorder, whereas social deficits are key features of the illness. Changes in "resting state" activity of brain networks involved in self-related processing have been consistently reported in schizophrenia, but their meaning for social perception deficits remains poorly understood. Here, we applied a novel approach investigating the relationship between task-evoked neural activity during social perception and functional organization of self-related brain networks during a "resting state". "Resting state" functional MRI was combined with task-related functional MRI using a social perception experiment. Twenty-one healthy control participants (HC) and 21 out-patients with a diagnosis of schizophrenia (SCH) were included. There were no significant differences concerning age, IQ, education and gender between the groups. Results showed reduced "resting state" functional connectivity between ventromedial prefrontal cortex and dorsal posterior cingulate cortex in SCH, compared to HC. During social perception, neural activity in dorsal posterior cingulate cortex and behavioral data indicated impaired congruence coding of social stimuli in SCH. Task-evoked activity during social perception in dorsal posterior cingulate cortex co-varied with dorsal posterior cingulate cortex-ventromedial prefrontal cortex functional connectivity during a "resting state" in HC, but not in SCH. Task-evoked activity also correlated with negative symptoms in SCH. These preliminary findings, showing disrupted prediction of social perception measures by "resting state" functioning of self-related brain networks in schizophrenia, provide important insight in the hypothesized link between self and social deficits. They also shed light on the meaning of "resting state" changes for tasks such as social perception. ispartof: Schizophrenia Research vol:193 pages:370-376 ispartof: location:Netherlands status: published
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=10.1016/j.schres.2017.07.020&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu19 citations 19 popularity Top 10% 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=10.1016/j.schres.2017.07.020&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2015Wiley NIH | Alzheimers Disease Neuroi..., CIHRNIH| Alzheimers Disease Neuroimaging Initiative ,CIHRJihye Hwang; Chan Mi Kim; Seun Jeon; Jongmin Lee; Yun Jeong Hong; Jee Hoon Roh; Jae-Hong Lee; Jae-Young Koh; Duk L. Na; Alzheimer's Disease Neuroimaging Initiative;AbstractIntroductionRecent studies have shown that pathologically defined subtypes of Alzheimer's disease (AD) represent distinctive atrophy patterns and clinical characteristics. We investigated whether a cortical thickness–based clustering method can reflect such findings.MethodsA total of 77 AD subjects from the Alzheimer's Disease Neuroimaging Initiative 2 data set who underwent 3‐T magnetic resonance imaging, [18F]‐fluorodeoxyglucose‐positron emission tomography (PET), [18F]‐Florbetapir PET, and cerebrospinal fluid (CSF) tests were enrolled. After clustering based on cortical thickness, diverse imaging and biofluid biomarkers were compared between these groups.ResultsThree cortical thinning patterns were noted: medial temporal (MT; 19.5%), diffuse (55.8%), and parietal dominant (P; 24.7%) atrophy subtypes. The P subtype was the youngest and represented more glucose hypometabolism in the parietal and occipital cortices and marked amyloid‐beta accumulation in most brain regions. The MT subtype revealed more glucose hypometabolism in the left hippocampus and bilateral frontal cortices and less performance in memory tests. CSF test results did not differ between the groups.DiscussionCortical thickness patterns can reflect pathophysiological and clinical changes in AD.
Europe PubMed Centra... arrow_drop_down Alzheimer’s & Dementia: Diagnosis, Assessment & Disease MonitoringArticle . 2015 . 2016License: CC BY NC NDadd 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.dadm.2015.11.008&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu64 citations 64 popularity Top 10% influence Top 10% impulse Top 10% Powered by BIP!more_vert Europe PubMed Centra... arrow_drop_down Alzheimer’s & Dementia: Diagnosis, Assessment & Disease MonitoringArticle . 2015 . 2016License: CC BY NC NDadd 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.dadm.2015.11.008&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2019 Argentina, Portugal, DenmarkWiley Melina Paula Bordone; Mootaz M. Salman; Haley E. Titus; Elham Amini; Jens V. Andersen; Barnali Chakraborti; Artem V. Diuba; Tatsiana G Dubouskaya; Eric Ehrke; Andiara E. Freitas; Guilherme B. L. de Freitas; Rafaella Araujo Gonçalves; Deepali Gupta; Richa Gupta; Sharon R. Ha; Isabel A. Hemming; Minal Jaggar; Emil Jakobsen; Punita Kumari; Navya Lakkappa; Ashley P L Marsh; Jessica Mitlöhner; Yuki Ogawa; Ramesh Kumar Paidi; Felipe C. Ribeiro; Ahmad Salamian; Suraiya Saleem; Sorabh Sharma; Joana Silva; S. Singh; Kunjbihari Sulakhiya; Tesfaye Wolde Tefera; Behnam Vafadari; Anuradha Yadav; Reiji Yamazaki; Constanze I. Seidenbecher;The past 20 years have resulted in unprecedented progress in understanding brain energy metabolism and its role in health and disease. In this review, which was initiated at the 14th International Society for Neurochemistry Advanced School, we address the basic concepts of brain energy metabolism and approach the question of why the brain has high energy expenditure. Our review illustrates that the vertebrate brain has a high need for energy because of the high number of neurons and the need to maintain a delicate interplay between energy metabolism, neurotransmission, and plasticity. Disturbances to the energetic balance, to mitochondria quality control or to glia-neuron metabolic interaction may lead to brain circuit malfunction or even severe disorders of the CNS. We cover neuronal energy consumption in neural transmission and basic ('housekeeping') cellular processes. Additionally, we describe the most common (glucose) and alternative sources of energy namely glutamate, lactate, ketone bodies, and medium chain fatty acids. We discuss the multifaceted role of non-neuronal cells in the transport of energy substrates from circulation (pericytes and astrocytes) and in the supply (astrocytes and microglia) and usage of different energy fuels. Finally, we address pathological consequences of disrupted energy homeostasis in the CNS. funded by the DFG (SFB779‐B14 and RTG2413 “SynAge” TP08), BMBF (IB‐049 “PrePLASTic”) and EU (MC‐ITN “ECMED”; LSA ESF ZS/2016/08/80645 “ABINEP”). C.I.S. is an editor for Journal of Neurochemistry
CONICET Digital (CON... arrow_drop_down CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y TécnicasArticle . 2019License: CC BY NC NDLAReferencia - Red Federada de Repositorios Institucionales de Publicaciones Científicas Latinoamericanas; Universidade do Minho: RepositoriUMOther literature type . Article . 2019Copenhagen University Research Information SystemArticle . 2019Data sources: Copenhagen University Research Information Systemadd 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/jnc.14829&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu143 citations 143 popularity Top 1% influence Top 10% impulse Top 1% Powered by BIP!visibility 16visibility views 16 download downloads 4 Powered bymore_vert CONICET Digital (CON... arrow_drop_down CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y TécnicasArticle . 2019License: CC BY NC NDLAReferencia - Red Federada de Repositorios Institucionales de Publicaciones Científicas Latinoamericanas; Universidade do Minho: RepositoriUMOther literature type . Article . 2019Copenhagen University Research Information SystemArticle . 2019Data sources: Copenhagen University Research Information Systemadd 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/jnc.14829&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2006Future Medicine Ltd Vural Ozdemir; Arzu Gunes; Marja-Liisa Dahl; M. Gabriella Scordo; Bryn Williams-Jones; Toshiyuki Someya;pmid: 17184207
Integration of genomic data from pharmacokinetic pathways and drug targets is an emerging trend in bioinformatics, but is there a clear separation of pharmacokinetic pathways and drug targets? Should we also consider the potential interactions of endogenous substrates of drug-metabolizing enzymes with receptors and other molecular drug targets as we combine pharmacogenomic datasets? We discuss these overarching questions through a specific pharmacogenomic case study of the cytochrome P450 (CYP)2D6, serotonin and dopamine triad. Importantly, CYP2D6 may contribute to the regeneration of serotonin from 5-methoxytryptamine by virtue of its catalytic function as a 5-methoxyindolethylamine O-demethylase. Furthermore, serotonergic neurons provide a regulatory feedback on dopaminergic neurotransmission. Hence, we hypothesize that independent of its role as a pharmacokinetic gene, CYP2D6 may nuance the regulation of serotonergic and dopaminergic neurophysiology. Additionally, we reflect upon the contribution of hyperspecialization in biomedicine to the present disconnect between research on pharmacokinetics and drug targets, and the potential for remedying this important gap through informed dialogue among clinical pharmacologists, human geneticists, bioethicists and applied social scientists.
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=10.2217/14622416.7.8.1199&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu17 citations 17 popularity Average influence Average impulse Average 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=10.2217/14622416.7.8.1199&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Other literature type , Article 2014Oxford University Press (OUP) Leor Zach; David Guez; Dianne Daniels; Yuval Grober; Ouzi Nissim; Chen Hoffmann; Dvora Nass; Alisa Talianski; Roberto Spiegelmann; Galia Tsarfaty; Sharona Salomon; Moshe Hadani; Andrew A. Kanner; Deborah T. Blumenthal; Felix Bukstein; Michal Yalon; Jacob Zauberman; Jonathan Roth; Yigal Shoshan; Evgeniya Fridman; Marc Wygoda; Dror Limon; Tzahala Tzuk; Zvi R. Cohen; Yael Mardor;Conventional magnetic resonance imaging (MRI) is unable to differentiate tumor/nontumor enhancing tissues. We have applied delayed-contrast MRI for calculating high resolution treatment response assessment maps (TRAMs) clearly differentiating tumor/nontumor tissues in brain tumor patients.One hundred and fifty patients with primary/metastatic tumors were recruited and scanned by delayed-contrast MRI and perfusion MRI. Of those, 47 patients underwent resection during their participation in the study. Region of interest/threshold analysis was performed on the TRAMs and on relative cerebral blood volume maps, and correlation with histology was studied. Relative cerebral blood volume was also assessed by the study neuroradiologist.Histological validation confirmed that regions of contrast agent clearance in the TRAMs1 h post contrast injection represent active tumor, while regions of contrast accumulation represent nontumor tissues with 100% sensitivity and 92% positive predictive value to active tumor. Significant correlation was found between tumor burden in the TRAMs and histology in a subgroup of lesions resected en bloc (r(2) = 0.90, P.0001). Relative cerebral blood volume yielded sensitivity/positive predictive values of 51%/96% and there was no correlation with tumor burden. The feasibility of applying the TRAMs for differentiating progression from treatment effects, depicting tumor within hemorrhages, and detecting residual tumor postsurgery is demonstrated.The TRAMs present a novel model-independent approach providing efficient separation between tumor/nontumor tissues by adding a short MRI scan1 h post contrast injection. The methodology uses robust acquisition sequences, providing high resolution and easy to interpret maps with minimal sensitivity to susceptibility artifacts. The presented results provide histological validation of the TRAMs and demonstrate their potential contribution to the management of brain tumor patients.
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=10.1093/neuonc/nou230&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu67 citations 67 popularity Top 10% 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=10.1093/neuonc/nou230&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2018 Switzerland, Italy, BelgiumSpringer Science and Business Media LLC Cristina Simon-Martinez; Lisa Mailleux; Els Ortibus; Anna Fehrenbach; Giuseppina Sgandurra; Giovanni Cioni; Kaat Desloovere; Nicole Wenderoth; Philippe Demaerel; Stefan Sunaert; Guy Molenaers; Hilde Feys; Katrijn Klingels;Background Upper limb (UL) deficits in children with unilateral cerebral palsy (uCP) have traditionally been targeted with motor execution treatment models, such as modified Constraint-Induced Movement Therapy (mCIMT). However, new approaches based on a neurophysiological model such as Action-Observation Training (AOT) may provide new opportunities for enhanced motor learning. The aim of this study is to describe a randomised controlled trial (RCT) protocol investigating the effects of an intensive treatment model, combining mCIMT and AOT compared to mCIMT alone on UL function in children with uCP. Additionally, the role of neurological factors as potential biomarkers of treatment response will be analysed. Methods An evaluator-blinded RCT will be conducted in 42 children aged between 6 and 12 years. Before randomization, children will be stratified according to their House Functional Classification Scale, age and type of corticospinal tract wiring. A 2-week day-camp will be set up in which children receive intensive mCIMT therapy for 6 hours a day on 9 out of 11 consecutive days (54 h) including AOT or control condition (15 h). During AOT, these children watch video sequences showing goal-directed actions and subsequently execute the observed actions with the more impaired UL. The control group performs the same actions after watching computer games without human motion. The primary outcome measure will be the Assisting Hand Assessment. Secondary outcomes comprise clinical assessments across body function, activity and participation level of the International Classification of Function, Disability and Health. Furthermore, to quantitatively evaluate UL movement patterns, a three-dimensional motion analysis will be conducted. UL function will be assessed at baseline, immediately before and after intervention and at 6 months follow up. Brain imaging comprising structural and functional connectivity measures as well as Transcranial Magnetic Stimulation (TMS) to evaluate corticospinal tract wiring will be acquired before the intervention. Discussion This paper describes the methodology of an RCT with two main objectives: (1) to evaluate the added value of AOT to mCIMT on UL outcome in children with uCP and (2) to investigate the role of neurological factors as potential biomarkers of treatment response. BMC Pediatrics, 18 (1) ISSN:1471-2431
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=10.1186/s12887-018-1228-2&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu19 citations 19 popularity Top 10% 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=10.1186/s12887-018-1228-2&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2019MDPI AG Laura Costea; Ádám Mészáros; Hannelore Bauer; Hans-Christian Bauer; Andreas Traweger; Imola Wilhelm; Attila E. Farkas; István A. Krizbai;With age, our cognitive skills and abilities decline. Maybe starting as an annoyance, this decline can become a major impediment to normal daily life. Recent research shows that the neurodegenerative disorders responsible for age associated cognitive dysfunction are mechanistically linked to the state of the microvasculature in the brain. When the microvasculature does not function properly, ischemia, hypoxia, oxidative stress and related pathologic processes ensue, further damaging vascular and neural function. One of the most important and specialized functions of the brain microvasculature is the blood−brain barrier (BBB), which controls the movement of molecules between blood circulation and the brain parenchyma. In this review, we are focusing on tight junctions (TJs), the multiprotein complexes that play an important role in establishing and maintaining barrier function. After a short introduction of the cell types that modulate barrier function via intercellular communication, we examine how age, age related pathologies and the aging of the immune system affects TJs. Then, we review how the TJs are affected in age associated neurodegenerative disorders: Alzheimer’s disease and Parkinson’s disease. Lastly, we summarize the TJ aspects of Huntington’s disease and schizophrenia. Barrier dysfunction appears to be a common denominator in neurological disorders, warranting detailed research into the molecular mechanisms behind it. Learning the commonalities and differences in the pathomechanism of the BBB injury in different neurological disorders will predictably lead to development of new therapeutics that improve our life as we age.
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=10.3390/ijms20215472&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu56 citations 56 popularity Top 1% influence Top 10% impulse Top 1% 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=10.3390/ijms20215472&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2019Wiley Elan, NIH | Assessment of hyperphosph..., NIH | Alzheimer's Disease Neuro... +22 projectsElan ,NIH| Assessment of hyperphosphorylated tau PET binding in primary progressive aphasia ,NIH| Alzheimer's Disease Neuroimaging Initiative ,NIH| Alzheimer's Disease Cooperative Study ,NIH| Disease pathways in the population determined by amyloid, tau, and neurodegeneration imaging biomarkers ,NIH| Alzheimer's Prevention Initiative ADAD Colombia Trial ,NIH| A molecular anatomic imaging analysis of tau in progressive supranuclear palsy ,NIH| Exceptional Aging: Identifying Modifiers of Alzheimer's Disease Trajectories ,NIH| ALZHEIMERS DISEASE PATIENT REGISTRY ,NIH| Aerobic Exercise in Alzheimer's Disease: Cognition and Hippocampal Volume Effects ,NIH| The Role of Intracranial Atherosclerosis in the Development of Alzheimer's Disease ,NIH| Alzheimer's Prevention Initiative ADAD Colombia Trial ,NIH| The ARIC study of midlife sleep and late-life brain amyloid ,NIH| Early Onset Alzheimer's Disease Consortium ,NIH| Brain Aging and Alzheimer's Biomarker Classification Using Amyloid PET, tau PET, and Neurodegeneration on MRI: Developing the ATN system ,NIH| Multimorbidity and Aging: Rochester Epidemiology Project ,NIH| Dominantly Inherited Alzheimer's Network Trials Unit - Adaptive Prevention Trial ,NIH| Development, Validation, and Application of an Imaging based CVD Scale ,NIH| Dominantly Inherited Alzheimer Network ,NIH| The ARIC-PET Amyloid Imaging Study ,NIH| Sphingolipids and Inflammation in the Development and Progression of Alzheimer's ,CIHR ,NIH| Multiple System Atrophy - Novel Targets in Early Diagnosis, Pathophysiology, and Therapeutic Approach ,NIH| Synucleinopathies – Novel Targets in Early Diagnosis, Pathophysiology, and Therapeutic Approach ,NIH| Mayo Alzheimers Disease Research CenterNancy Maserejian; Shijia Bian; Wenting Wang; Judith Jaeger; Jeremy A. Syrjanen; Jeremiah Aakre; Clifford R. Jack Jr.; Michelle M. Mielke; Feng Gao; Alzheimer's Disease Neuroimaging Initiative and the AIBL research team;AbstractIntroductionPractical algorithms predicting the probability of amyloid pathology among patients with subjective cognitive decline or mild cognitive impairment may help clinical decisions regarding confirmatory biomarker testing for Alzheimer's disease.MethodsAlgorithm feature selection was conducted with Alzheimer's Disease Neuroimaging Initiative and Australian Imaging, Biomarkers and Lifestyle Flagship Study of Ageing data. Probability algorithms were developed in Alzheimer's Disease Neuroimaging Initiative using nested cross‐validation accompanied by stratified subsampling to obtain 1000 internally validated decision trees. Semi‐independent validation was conducted using Australian Imaging, Biomarkers and Lifestyle Flagship Study of Ageing. Independent external validation was conducted in the population‐based Mayo Clinic Study of Aging.ResultsTwo algorithms were developed using age and normalized immediate recall z‐scores, with or without apolipoprotein E ε4 carrier status. Both algorithms had robust performance across data sets and when substituting different recall memory tests.DiscussionThe statistical framework resulted in robust probability estimation. Application of these algorithms may assist in clinical decision‐making for further testing to diagnose amyloid pathology.
Europe PubMed Centra... arrow_drop_down Alzheimer’s & Dementia: Diagnosis, Assessment & Disease MonitoringArticle . 2019License: CC BY NC NDData sources: Crossrefadd 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.dadm.2019.09.001&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu10 citations 10 popularity Top 10% influence Average impulse Top 10% Powered by BIP!more_vert Europe PubMed Centra... arrow_drop_down Alzheimer’s & Dementia: Diagnosis, Assessment & Disease MonitoringArticle . 2019License: CC BY NC NDData sources: Crossrefadd 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.dadm.2019.09.001&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu
Loading
description Publicationkeyboard_double_arrow_right Article 2018 United KingdomElsevier BV Authors: Bigger, Brian W.; Begley, David J.; Virgintino, Daniela; Pshezhetsky, Alexey V.;Bigger, Brian W.; Begley, David J.; Virgintino, Daniela; Pshezhetsky, Alexey V.;pmid: 30145178
Mucopolysaccharidosis (MPS) disorders are caused by deficiencies in lysosomal enzymes, leading to impaired glycosaminoglycan (GAG) degradation. The resulting GAG accumulation in cells and connective tissues ultimately results in widespread tissue and organ dysfunction. The seven MPS types currently described are heterogeneous and progressive disorders, with somatic and neurological manifestations depending on the type of accumulating GAG. Heparan sulfate (HS) is one of the GAGs stored in patients with MPS I, II, and VII and the main GAG stored in patients with MPS III. These disorders are associated with significant central nervous system (CNS) abnormalities that can manifest as impaired cognition, hyperactive and/or aggressive behavior, epilepsy, hydrocephalus, and sleeping problems. This review discusses the anatomical and pathophysiological CNS changes accompanying HS accumulation as well as the mechanisms believed to cause CNS abnormalities in MPS patients. The content of this review is based on presentations and discussions on these topics during a meeting on the brain in MPS attended by an international group of MPS experts.
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=10.1016/j.ymgme.2018.08.003&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu73 citations 73 popularity Top 1% influence Top 10% impulse Top 1% 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=10.1016/j.ymgme.2018.08.003&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Other literature type 2018 Netherlands, Italy, United Kingdom, United StatesElsevier BV Tripathy, R; Leca, I; Van Dijk, T; Weiss, J; Van Bon, B; Sergaki, M; Gstrein, T; Breuss, M; Tian, G; Bahi-Buisson, N; Paciorkowski, A; Pagnamenta, A; Wenninger-Weinzierl, A; Martinez-Reza, M; Landler, L; Lise, S; Taylor, J; Terrone, G; Vitiello, G; Del Giudice, E; Brunetti-Pierri, N; D'Amico, A; Reymond, A; Voisin, N; Bernstein, J; Farrelly, E; Kini, U; Leonard, T; Valence, S; Burglen, L; Armstrong, L; Hiatt, S; Cooper, G; Aldinger, K; Dobyns, W; Mirzaa, G; Pierson, T; Baas, F; Chelly, J; Cowan, N; Keays, D;Corpus callosum malformations are associated with a broad range of neurodevelopmental diseases. We report that de novo mutations in MAST1 cause mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations (MCC-CH-CM) in the absence of megalencephaly. We show that MAST1 is a microtubule associated protein, that is predominantly expressed in post-mitotic neurons, and is present in both dendritic and axonal compartments. We further show that Mast1 null animals are phenotypically normal, whereas the deletion of a single amino acid (L278del) recapitulates the distinct neurological phenotype observed in patients. In animals harboring Mast1 microdeletions we find that the PI3K/AKT3/mTOR pathway is unperturbed, whereas Mast2 and Mast3 levels are diminished, indicative of a dominant negative mode of action. Finally, we report that de novo MAST1 substitutions are present in patients with autism and microcephaly, raising the prospect that mutations in this gene give rise to a spectrum of neurodevelopmental diseases.
Neuron arrow_drop_down Oxford University Research ArchiveOther literature type . 2019Data sources: Oxford University Research ArchiveeScholarship - University of CaliforniaArticle . 2018Data sources: eScholarship - University of CaliforniaNeuron; METIS Research Information System; NARCIS; Archivio della ricerca - Università degli studi di Napoli Federico IIArticle . 2018License: Elsevier Non-Commercialadd 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.neuron.2018.10.044&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!visibility 21visibility views 21 download downloads 9 Powered bymore_vert Neuron arrow_drop_down Oxford University Research ArchiveOther literature type . 2019Data sources: Oxford University Research ArchiveeScholarship - University of CaliforniaArticle . 2018Data sources: eScholarship - University of CaliforniaNeuron; METIS Research Information System; NARCIS; Archivio della ricerca - Università degli studi di Napoli Federico IIArticle . 2018License: Elsevier Non-Commercialadd 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.neuron.2018.10.044&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Other literature type 2018 Italy, BelgiumElsevier BV CIHR, WTCIHR ,WTSjoerd J. H. Ebisch; Vittorio Gallese; Anatolia Salone; Giovanni Martinotti; Giuseppe Di Iorio; Dante Mantini; Mauro Gianni Perrucci; Gian Luca Romani; Massimo Di Giannantonio; Georg Northoff;Schizophrenia has been described as a self-disorder, whereas social deficits are key features of the illness. Changes in "resting state" activity of brain networks involved in self-related processing have been consistently reported in schizophrenia, but their meaning for social perception deficits remains poorly understood. Here, we applied a novel approach investigating the relationship between task-evoked neural activity during social perception and functional organization of self-related brain networks during a "resting state". "Resting state" functional MRI was combined with task-related functional MRI using a social perception experiment. Twenty-one healthy control participants (HC) and 21 out-patients with a diagnosis of schizophrenia (SCH) were included. There were no significant differences concerning age, IQ, education and gender between the groups. Results showed reduced "resting state" functional connectivity between ventromedial prefrontal cortex and dorsal posterior cingulate cortex in SCH, compared to HC. During social perception, neural activity in dorsal posterior cingulate cortex and behavioral data indicated impaired congruence coding of social stimuli in SCH. Task-evoked activity during social perception in dorsal posterior cingulate cortex co-varied with dorsal posterior cingulate cortex-ventromedial prefrontal cortex functional connectivity during a "resting state" in HC, but not in SCH. Task-evoked activity also correlated with negative symptoms in SCH. These preliminary findings, showing disrupted prediction of social perception measures by "resting state" functioning of self-related brain networks in schizophrenia, provide important insight in the hypothesized link between self and social deficits. They also shed light on the meaning of "resting state" changes for tasks such as social perception. ispartof: Schizophrenia Research vol:193 pages:370-376 ispartof: location:Netherlands status: published
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=10.1016/j.schres.2017.07.020&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu19 citations 19 popularity Top 10% 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=10.1016/j.schres.2017.07.020&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2015Wiley NIH | Alzheimers Disease Neuroi..., CIHRNIH| Alzheimers Disease Neuroimaging Initiative ,CIHRJihye Hwang; Chan Mi Kim; Seun Jeon; Jongmin Lee; Yun Jeong Hong; Jee Hoon Roh; Jae-Hong Lee; Jae-Young Koh; Duk L. Na; Alzheimer's Disease Neuroimaging Initiative;AbstractIntroductionRecent studies have shown that pathologically defined subtypes of Alzheimer's disease (AD) represent distinctive atrophy patterns and clinical characteristics. We investigated whether a cortical thickness–based clustering method can reflect such findings.MethodsA total of 77 AD subjects from the Alzheimer's Disease Neuroimaging Initiative 2 data set who underwent 3‐T magnetic resonance imaging, [18F]‐fluorodeoxyglucose‐positron emission tomography (PET), [18F]‐Florbetapir PET, and cerebrospinal fluid (CSF) tests were enrolled. After clustering based on cortical thickness, diverse imaging and biofluid biomarkers were compared between these groups.ResultsThree cortical thinning patterns were noted: medial temporal (MT; 19.5%), diffuse (55.8%), and parietal dominant (P; 24.7%) atrophy subtypes. The P subtype was the youngest and represented more glucose hypometabolism in the parietal and occipital cortices and marked amyloid‐beta accumulation in most brain regions. The MT subtype revealed more glucose hypometabolism in the left hippocampus and bilateral frontal cortices and less performance in memory tests. CSF test results did not differ between the groups.DiscussionCortical thickness patterns can reflect pathophysiological and clinical changes in AD.
Europe PubMed Centra... arrow_drop_down Alzheimer’s & Dementia: Diagnosis, Assessment & Disease MonitoringArticle . 2015 . 2016License: CC BY NC NDadd 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.dadm.2015.11.008&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu64 citations 64 popularity Top 10% influence Top 10% impulse Top 10% Powered by BIP!more_vert Europe PubMed Centra... arrow_drop_down Alzheimer’s & Dementia: Diagnosis, Assessment & Disease MonitoringArticle . 2015 . 2016License: CC BY NC NDadd 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.dadm.2015.11.008&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2019 Argentina, Portugal, DenmarkWiley Melina Paula Bordone; Mootaz M. Salman; Haley E. Titus; Elham Amini; Jens V. Andersen; Barnali Chakraborti; Artem V. Diuba; Tatsiana G Dubouskaya; Eric Ehrke; Andiara E. Freitas; Guilherme B. L. de Freitas; Rafaella Araujo Gonçalves; Deepali Gupta; Richa Gupta; Sharon R. Ha; Isabel A. Hemming; Minal Jaggar; Emil Jakobsen; Punita Kumari; Navya Lakkappa; Ashley P L Marsh; Jessica Mitlöhner; Yuki Ogawa; Ramesh Kumar Paidi; Felipe C. Ribeiro; Ahmad Salamian; Suraiya Saleem; Sorabh Sharma; Joana Silva; S. Singh; Kunjbihari Sulakhiya; Tesfaye Wolde Tefera; Behnam Vafadari; Anuradha Yadav; Reiji Yamazaki; Constanze I. Seidenbecher;The past 20 years have resulted in unprecedented progress in understanding brain energy metabolism and its role in health and disease. In this review, which was initiated at the 14th International Society for Neurochemistry Advanced School, we address the basic concepts of brain energy metabolism and approach the question of why the brain has high energy expenditure. Our review illustrates that the vertebrate brain has a high need for energy because of the high number of neurons and the need to maintain a delicate interplay between energy metabolism, neurotransmission, and plasticity. Disturbances to the energetic balance, to mitochondria quality control or to glia-neuron metabolic interaction may lead to brain circuit malfunction or even severe disorders of the CNS. We cover neuronal energy consumption in neural transmission and basic ('housekeeping') cellular processes. Additionally, we describe the most common (glucose) and alternative sources of energy namely glutamate, lactate, ketone bodies, and medium chain fatty acids. We discuss the multifaceted role of non-neuronal cells in the transport of energy substrates from circulation (pericytes and astrocytes) and in the supply (astrocytes and microglia) and usage of different energy fuels. Finally, we address pathological consequences of disrupted energy homeostasis in the CNS. funded by the DFG (SFB779‐B14 and RTG2413 “SynAge” TP08), BMBF (IB‐049 “PrePLASTic”) and EU (MC‐ITN “ECMED”; LSA ESF ZS/2016/08/80645 “ABINEP”). C.I.S. is an editor for Journal of Neurochemistry
CONICET Digital (CON... arrow_drop_down CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y TécnicasArticle . 2019License: CC BY NC NDLAReferencia - Red Federada de Repositorios Institucionales de Publicaciones Científicas Latinoamericanas; Universidade do Minho: RepositoriUMOther literature type . Article . 2019Copenhagen University Research Information SystemArticle . 2019Data sources: Copenhagen University Research Information Systemadd 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/jnc.14829&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu143 citations 143 popularity Top 1% influence Top 10% impulse Top 1% Powered by BIP!visibility 16visibility views 16 download downloads 4 Powered bymore_vert CONICET Digital (CON... arrow_drop_down CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y TécnicasArticle . 2019License: CC BY NC NDLAReferencia - Red Federada de Repositorios Institucionales de Publicaciones Científicas Latinoamericanas; Universidade do Minho: RepositoriUMOther literature type . Article . 2019Copenhagen University Research Information SystemArticle . 2019Data sources: Copenhagen University Research Information Systemadd 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/jnc.14829&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2006Future Medicine Ltd Vural Ozdemir; Arzu Gunes; Marja-Liisa Dahl; M. Gabriella Scordo; Bryn Williams-Jones; Toshiyuki Someya;pmid: 17184207
Integration of genomic data from pharmacokinetic pathways and drug targets is an emerging trend in bioinformatics, but is there a clear separation of pharmacokinetic pathways and drug targets? Should we also consider the potential interactions of endogenous substrates of drug-metabolizing enzymes with receptors and other molecular drug targets as we combine pharmacogenomic datasets? We discuss these overarching questions through a specific pharmacogenomic case study of the cytochrome P450 (CYP)2D6, serotonin and dopamine triad. Importantly, CYP2D6 may contribute to the regeneration of serotonin from 5-methoxytryptamine by virtue of its catalytic function as a 5-methoxyindolethylamine O-demethylase. Furthermore, serotonergic neurons provide a regulatory feedback on dopaminergic neurotransmission. Hence, we hypothesize that independent of its role as a pharmacokinetic gene, CYP2D6 may nuance the regulation of serotonergic and dopaminergic neurophysiology. Additionally, we reflect upon the contribution of hyperspecialization in biomedicine to the present disconnect between research on pharmacokinetics and drug targets, and the potential for remedying this important gap through informed dialogue among clinical pharmacologists, human geneticists, bioethicists and applied social scientists.
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=10.2217/14622416.7.8.1199&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu17 citations 17 popularity Average influence Average impulse Average 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=10.2217/14622416.7.8.1199&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Other literature type , Article 2014Oxford University Press (OUP) Leor Zach; David Guez; Dianne Daniels; Yuval Grober; Ouzi Nissim; Chen Hoffmann; Dvora Nass; Alisa Talianski; Roberto Spiegelmann; Galia Tsarfaty; Sharona Salomon; Moshe Hadani; Andrew A. Kanner; Deborah T. Blumenthal; Felix Bukstein; Michal Yalon; Jacob Zauberman; Jonathan Roth; Yigal Shoshan; Evgeniya Fridman; Marc Wygoda; Dror Limon; Tzahala Tzuk; Zvi R. Cohen; Yael Mardor;Conventional magnetic resonance imaging (MRI) is unable to differentiate tumor/nontumor enhancing tissues. We have applied delayed-contrast MRI for calculating high resolution treatment response assessment maps (TRAMs) clearly differentiating tumor/nontumor tissues in brain tumor patients.One hundred and fifty patients with primary/metastatic tumors were recruited and scanned by delayed-contrast MRI and perfusion MRI. Of those, 47 patients underwent resection during their participation in the study. Region of interest/threshold analysis was performed on the TRAMs and on relative cerebral blood volume maps, and correlation with histology was studied. Relative cerebral blood volume was also assessed by the study neuroradiologist.Histological validation confirmed that regions of contrast agent clearance in the TRAMs1 h post contrast injection represent active tumor, while regions of contrast accumulation represent nontumor tissues with 100% sensitivity and 92% positive predictive value to active tumor. Significant correlation was found between tumor burden in the TRAMs and histology in a subgroup of lesions resected en bloc (r(2) = 0.90, P.0001). Relative cerebral blood volume yielded sensitivity/positive predictive values of 51%/96% and there was no correlation with tumor burden. The feasibility of applying the TRAMs for differentiating progression from treatment effects, depicting tumor within hemorrhages, and detecting residual tumor postsurgery is demonstrated.The TRAMs present a novel model-independent approach providing efficient separation between tumor/nontumor tissues by adding a short MRI scan1 h post contrast injection. The methodology uses robust acquisition sequences, providing high resolution and easy to interpret maps with minimal sensitivity to susceptibility artifacts. The presented results provide histological validation of the TRAMs and demonstrate their potential contribution to the management of brain tumor patients.
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=10.1093/neuonc/nou230&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu67 citations 67 popularity Top 10% 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=10.1093/neuonc/nou230&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2018 Switzerland, Italy, BelgiumSpringer Science and Business Media LLC Cristina Simon-Martinez; Lisa Mailleux; Els Ortibus; Anna Fehrenbach; Giuseppina Sgandurra; Giovanni Cioni; Kaat Desloovere; Nicole Wenderoth; Philippe Demaerel; Stefan Sunaert; Guy Molenaers; Hilde Feys; Katrijn Klingels;Background Upper limb (UL) deficits in children with unilateral cerebral palsy (uCP) have traditionally been targeted with motor execution treatment models, such as modified Constraint-Induced Movement Therapy (mCIMT). However, new approaches based on a neurophysiological model such as Action-Observation Training (AOT) may provide new opportunities for enhanced motor learning. The aim of this study is to describe a randomised controlled trial (RCT) protocol investigating the effects of an intensive treatment model, combining mCIMT and AOT compared to mCIMT alone on UL function in children with uCP. Additionally, the role of neurological factors as potential biomarkers of treatment response will be analysed. Methods An evaluator-blinded RCT will be conducted in 42 children aged between 6 and 12 years. Before randomization, children will be stratified according to their House Functional Classification Scale, age and type of corticospinal tract wiring. A 2-week day-camp will be set up in which children receive intensive mCIMT therapy for 6 hours a day on 9 out of 11 consecutive days (54 h) including AOT or control condition (15 h). During AOT, these children watch video sequences showing goal-directed actions and subsequently execute the observed actions with the more impaired UL. The control group performs the same actions after watching computer games without human motion. The primary outcome measure will be the Assisting Hand Assessment. Secondary outcomes comprise clinical assessments across body function, activity and participation level of the International Classification of Function, Disability and Health. Furthermore, to quantitatively evaluate UL movement patterns, a three-dimensional motion analysis will be conducted. UL function will be assessed at baseline, immediately before and after intervention and at 6 months follow up. Brain imaging comprising structural and functional connectivity measures as well as Transcranial Magnetic Stimulation (TMS) to evaluate corticospinal tract wiring will be acquired before the intervention. Discussion This paper describes the methodology of an RCT with two main objectives: (1) to evaluate the added value of AOT to mCIMT on UL outcome in children with uCP and (2) to investigate the role of neurological factors as potential biomarkers of treatment response. BMC Pediatrics, 18 (1) ISSN:1471-2431
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=10.1186/s12887-018-1228-2&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu19 citations 19 popularity Top 10% 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=10.1186/s12887-018-1228-2&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2019MDPI AG Laura Costea; Ádám Mészáros; Hannelore Bauer; Hans-Christian Bauer; Andreas Traweger; Imola Wilhelm; Attila E. Farkas; István A. Krizbai;With age, our cognitive skills and abilities decline. Maybe starting as an annoyance, this decline can become a major impediment to normal daily life. Recent research shows that the neurodegenerative disorders responsible for age associated cognitive dysfunction are mechanistically linked to the state of the microvasculature in the brain. When the microvasculature does not function properly, ischemia, hypoxia, oxidative stress and related pathologic processes ensue, further damaging vascular and neural function. One of the most important and specialized functions of the brain microvasculature is the blood−brain barrier (BBB), which controls the movement of molecules between blood circulation and the brain parenchyma. In this review, we are focusing on tight junctions (TJs), the multiprotein complexes that play an important role in establishing and maintaining barrier function. After a short introduction of the cell types that modulate barrier function via intercellular communication, we examine how age, age related pathologies and the aging of the immune system affects TJs. Then, we review how the TJs are affected in age associated neurodegenerative disorders: Alzheimer’s disease and Parkinson’s disease. Lastly, we summarize the TJ aspects of Huntington’s disease and schizophrenia. Barrier dysfunction appears to be a common denominator in neurological disorders, warranting detailed research into the molecular mechanisms behind it. Learning the commonalities and differences in the pathomechanism of the BBB injury in different neurological disorders will predictably lead to development of new therapeutics that improve our life as we age.
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=10.3390/ijms20215472&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu56 citations 56 popularity Top 1% influence Top 10% impulse Top 1% 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=10.3390/ijms20215472&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2019Wiley Elan, NIH | Assessment of hyperphosph..., NIH | Alzheimer's Disease Neuro... +22 projectsElan ,NIH| Assessment of hyperphosphorylated tau PET binding in primary progressive aphasia ,NIH| Alzheimer's Disease Neuroimaging Initiative ,NIH| Alzheimer's Disease Cooperative Study ,NIH| Disease pathways in the population determined by amyloid, tau, and neurodegeneration imaging biomarkers ,NIH| Alzheimer's Prevention Initiative ADAD Colombia Trial ,NIH| A molecular anatomic imaging analysis of tau in progressive supranuclear palsy ,NIH| Exceptional Aging: Identifying Modifiers of Alzheimer's Disease Trajectories ,NIH| ALZHEIMERS DISEASE PATIENT REGISTRY ,NIH| Aerobic Exercise in Alzheimer's Disease: Cognition and Hippocampal Volume Effects ,NIH| The Role of Intracranial Atherosclerosis in the Development of Alzheimer's Disease ,NIH| Alzheimer's Prevention Initiative ADAD Colombia Trial ,NIH| The ARIC study of midlife sleep and late-life brain amyloid ,NIH| Early Onset Alzheimer's Disease Consortium ,NIH| Brain Aging and Alzheimer's Biomarker Classification Using Amyloid PET, tau PET, and Neurodegeneration on MRI: Developing the ATN system ,NIH| Multimorbidity and Aging: Rochester Epidemiology Project ,NIH| Dominantly Inherited Alzheimer's Network Trials Unit - Adaptive Prevention Trial ,NIH| Development, Validation, and Application of an Imaging based CVD Scale ,NIH| Dominantly Inherited Alzheimer Network ,NIH| The ARIC-PET Amyloid Imaging Study ,NIH| Sphingolipids and Inflammation in the Development and Progression of Alzheimer's ,CIHR ,NIH| Multiple System Atrophy - Novel Targets in Early Diagnosis, Pathophysiology, and Therapeutic Approach ,NIH| Synucleinopathies – Novel Targets in Early Diagnosis, Pathophysiology, and Therapeutic Approach ,NIH| Mayo Alzheimers Disease Research CenterNancy Maserejian; Shijia Bian; Wenting Wang; Judith Jaeger; Jeremy A. Syrjanen; Jeremiah Aakre; Clifford R. Jack Jr.; Michelle M. Mielke; Feng Gao; Alzheimer's Disease Neuroimaging Initiative and the AIBL research team;AbstractIntroductionPractical algorithms predicting the probability of amyloid pathology among patients with subjective cognitive decline or mild cognitive impairment may help clinical decisions regarding confirmatory biomarker testing for Alzheimer's disease.MethodsAlgorithm feature selection was conducted with Alzheimer's Disease Neuroimaging Initiative and Australian Imaging, Biomarkers and Lifestyle Flagship Study of Ageing data. Probability algorithms were developed in Alzheimer's Disease Neuroimaging Initiative using nested cross‐validation accompanied by stratified subsampling to obtain 1000 internally validated decision trees. Semi‐independent validation was conducted using Australian Imaging, Biomarkers and Lifestyle Flagship Study of Ageing. Independent external validation was conducted in the population‐based Mayo Clinic Study of Aging.ResultsTwo algorithms were developed using age and normalized immediate recall z‐scores, with or without apolipoprotein E ε4 carrier status. Both algorithms had robust performance across data sets and when substituting different recall memory tests.DiscussionThe statistical framework resulted in robust probability estimation. Application of these algorithms may assist in clinical decision‐making for further testing to diagnose amyloid pathology.
Europe PubMed Centra... arrow_drop_down Alzheimer’s & Dementia: Diagnosis, Assessment & Disease MonitoringArticle . 2019License: CC BY NC NDData sources: Crossrefadd 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.dadm.2019.09.001&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu10 citations 10 popularity Top 10% influence Average impulse Top 10% Powered by BIP!more_vert Europe PubMed Centra... arrow_drop_down Alzheimer’s & Dementia: Diagnosis, Assessment & Disease MonitoringArticle . 2019License: CC BY NC NDData sources: Crossrefadd 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.dadm.2019.09.001&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu