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14 results on '"Brain and Mind Research Institute"'

1. Fourth European stroke science workshop

Author: Paris 5, INSERM U894, Paris, France (JCB), Department of Neurology, Cantonal Hospital Aarau, Aarau, Switzerland (KN), Stroke Trials Unit, University of Nottingham, Nottingham NG5 1PB UK (PMB), Institute of Cardiovascular and Medical Sciences, University of Glasgow, United Kingdom (TJQ), Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, the Netherlands (ER), Department of Neurology and Stroke, and Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany (UZ), Institute for Stroke and Dementia Research, Klinikum der Universität München, Munich, Germany (AL, MDü), Munich Cluster for Systems Neurology (SyNergy), Munich, Germany (AL, MDü), Department of Medicine, University of Thessaly, Larissa, Greece (GN), Feil Family Brain and Mind Research Institute, Weill Cornell Medicine, New York, NY, USA (CI), Institute of Cardiovascular & Medical Sciences, University of Glasgow, Glasgow, United Kingdom (KRL), University of Copenhagen, Bispebjerg Hospital, Department of Neurology, Copenhagen, Denmark (HC), Department of Neurology, Massachusetts General Hospital/Harvard Medical School, Boston, MA, USA (SJvW), Sydney Medical School, University of Sydney, Sydney, Australia (CSA), Pharmaceutics Research Laboratory, School of Life Sciences, University of Sussex, Brighton, UK (CAM), Inserm, Bordeaux Population Health Research Center, UMR 1219, Univ. Bordeaux, ISPED, Bordeaux School of Public. Health, Bordeaux, France (CD), CHU de Bordeaux, Pôle de santé, publique, Bordeaux, France (CD), Center of Functionally Integrative Neuroscience, 53154 Aarhus University, Aarhus, Denmark (LO), Department of Cardiovascular Sciences, University of Leicester, Leicester, United Kingdom (NJS), Department of Neurology, Inselspital, University Hospital Bern, University of Bern, Switzerland (UF, HM), Radboud University Nijmegen Medical Center, Donders Institute Brain Cognition & Behaviour, Center for Neuroscience Department of Neurology, Nijmegen, The Netherlands (FEdL), Department of Neurology, Lund University, Lund, Sweden (BN), Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands (GJB, GJER), Univ. Lille, Inserm, CHU Lille, Degenerative and Vascular Cognitive Disorders, Lille, France (CC), Department of Neurology, Sainte-Anne Hospital, INSERM 894, DHU NeuroVasc Sorbonne Paris-Cité, Paris Descartes University, Paris, France (JLM), Stroke Unit and Division of Cardiovascular Medicine, University of Perugia, Italy (VC), Department of Neurology, Charité, Universitätsmedizin Berlin, Berlin, Germany (EM), on behalf of the European Stroke Science Workshop Presenters and Co-convenors, INSERM U1161, UFR de médecine Paris Diderot, France (ETL), Department of Neurology, Cologne University Hospital, Köln, Germany (CG), HRB Stroke Clinical Trials Network Ireland, University College Dublin Ireland (PJK), University of Glasgow, Queen Elizabeth University Hospital, Glasgow, United Kingdom (KM), Dept of Internal Medicine, Oslo University Hospital, Oslo, and Institute of Clinical Medicine, University of Tromsø, Tromsø, Norway (EB), Sorbonne Universités, UPMC Université, Paris 06, INSERM UMR-S 1166, F-75013, Paris, France (DAT), ICAN Institute for Cardiometabolism and Nutrition, Paris, France (DAT), University Hospital of North Midlands NHS Trust, Stoke-on-Trent, United Kingdom (CR), Department Neurosciences and Preventive Medicine, Danube University Krems, Austria (MB), Department of Neurosurgery, Bern University Hospital, Inselspital, Bern, Switzerland (JB), Department of Neurology, University of Heidelberg, Heidelberg, Germany (TS), Department of Neurology, Slotervaart Medical Center, Amsterdam, The Netherlands (LMdL), University Paris Diderot, Paris, France (EJ), Department of Neurology, University of Heidelberg, Heidelberg, Germany (RV), and Department of Neurology, Hopital Sainte-Anne, Université
Subjects: Stroke, small vessel disease, stroke therapy, thrombectomy, genomics, Clinical Neurology, stroke recovery, Cardiology and Cardiovascular Medicine, intracerebral hemorrhage, vascular cognitive impairment
Abstract: Lake Eibsee, Garmisch-Partenkirchen, 16 to 18 November, 2017: The European Stroke Organisation convened >120 stroke experts from 21 countries to discuss latest results and hot topics in clinical, translational and basic stroke research. Since its inception in 2011, the European Stroke Science Workshop has become a cornerstone of European Stroke Organisation’s academic activities and a major highlight for researchers in the field. Participants include stroke researchers at all career stages and with different backgrounds, who convene for plenary lectures and discussions. The workshop was organised in seven scientific sessions focusing on the following topics: (1) acute stroke treatment and endovascular therapy; (2) small vessel disease; (3) opportunities for stroke research in the omics era; (4) vascular cognitive impairment; (5) intracerebral and subarachnoid haemorrhage; (6) alternative treatment concepts and (7) neural circuits, recovery and rehabilitation. All sessions started with a keynote lecture providing an overview on current developments, followed by focused talks on a timely topic with the most recent findings, including unpublished data. In the following, we summarise the key contents of the meeting. The program is provided in the online only Data Supplement. The workshop started with a key note lecture on how to improve the efficiency of clinical trial endpoints in stroke, which was delivered by Craig Anderson (Sydney, Australia) and set the scene for the following discussions.
Published: 2018

2. Geometry of spiking patterns in early visual cortex: a topological data analytic approach

Author: Andrea Guidolin, Mathieu Desroches, Jonathan D. Victor, Keith P. Purpura, Serafim Rodrigues, Mathematical, Computational and Experimental Neuroscience [Bilbao] (MCEN), Basque Center for Applied Mathematics (BCAM), Department of Mathematics [Sweden] (KTH), Stockholm University, Mathématiques pour les Neurosciences (MATHNEURO), Inria Sophia Antipolis - Méditerranée (CRISAM), Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria), Department of Neurology and Feil Family Brain and Mind Research Institute [New-York] (BMRI), Weill Medical College of Cornell University [New York], and Ikerbasque - Basque Foundation for Science
Subjects: Neurons, Quantitative Biology::Neurons and Cognition, [SCCO.NEUR]Cognitive science/Neuroscience, [MATH.MATH-DS]Mathematics [math]/Dynamical Systems [math.DS], Data Science, Biomedical Engineering, Biophysics, Action Potentials, Bioengineering, Biochemistry, persistent homology, Biomaterials, topological data analysis, spike metric, Animals, Macaca, Photic Stimulation, Biotechnology, Visual Cortex
Abstract: In the brain, spiking patterns live in a high-dimensional space of neurons and time. Thus, determining the intrinsic structure of this space presents a theoretical and experimental challenge. To address this challenge, we introduce a new framework for applying topological data analysis (TDA) to spike train data and use it to determine the geometry of spiking patterns in the visual cortex. Key to our approach is a parametrized family of distances based on the timing of spikes that quantifies the dissimilarity between neuronal responses. We applied TDA to visually driven single-unit and multiple single-unit spiking activity in macaque V1 and V2. TDA across timescales reveals a common geometry for spiking patterns in V1 and V2 which, among simple models, is most similar to that of a low-dimensional space endowed with Euclidean or hyperbolic geometry with modest curvature. Remarkably, the inferred geometry depends on timescale and is clearest for the timescales that are important for encoding contrast, orientation and spatial correlations., NIH grants number EY09314 and EY07977 from the National Eye Institute of the NIH. NIH grants no. EY034150 from the National Eye Institute and NS111019 from the National Institute of Neurological Disorders and Stroke. Ikerbasque. Wallenberg AI, Autonomous Systems and Software Program (WASP) funded by the Knut and Alice Wallenberg Foundation. Inria Associated Team "NeuroTransSF".
Published: 2023

3. Caractérisation clinique et génétique d’une nouvelle dysplasie ectodermique en mosaïque

Author: Odile Boute, J.-B. Rivière, C. Gondry, Laurence Faivre, Pierre Vabres, S.S. Kholmanskikh, M. E. Ross, B. Devauchelle, B. Demeer, J. St-Onge, David Geneviève, William B. Dobyns, Laurent Guibaud, Julien Thevenon, G. Captier, G. Bernard, E. Carmi, Paul Kuentz, Yannis Duffourd, Alain Bron, Jean-Benoît Courcet, A. Lafon, V. Carmignac, Arthur Sorlin, Didier Bessis, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), FHU TRANSLAD (CHU de Dijon), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Weill Cornell Medicine, CHU Amiens-Picardie, McGill University = Université McGill [Montréal, Canada], Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Centre Hospitalier Universitaire de Montpellier (CHU Montpellier ), Centre Hospitalier Universitaire de Lille (CHU de Lille), Centre des Sciences du Goût et de l'Alimentation [Dijon] (CSGA), Institut National de la Recherche Agronomique (INRA)-Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Centre National de la Recherche Scientifique (CNRS), Hospices Civils de Lyon (HCL), Seattle Children’s Research Institute, Equipe GAD (LNC - U1231), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Service de Dermatologie (CHU de Dijon), Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Department of Neurology and Feil Family Brain and Mind Research Institute [New-York] (BMRI), Weill Medical College of Cornell University [New York], Center for neurogenetics [Feil Family Brain and Mind Research Institute, Weill Cornell Medicine, New York], Unité de génétique médicale et oncogénétique [CHU Amiens Picardie], McGill University Health Center [Montreal] (MUHC), Génétique biologique histologie [CHRU de Besançon], Département de dermatologie [CHU de Montpellier], Service de Génétique clinique, Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Service d'Ophtalmologie (CHU de Dijon), Département Chirurgie Pédiatrique [CHRU Montpellier], Pôle Femme Mère Enfant [CHRU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Service de dermatologie [CHU d'Amiens-Picardie], Département de chirurgie maxillofaciale et stomatologie [CHU d'Amiens-Picardie], Département de génétique médicale, maladies rares et médecine personnalisée [CHRU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Service de Radiologie [Amiens], Service d’imagerie pédiatrique et fœtale [Hôpital Femme Mère Enfant - HCL], Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Service Chirurgie Maxillo-Faciale - Stomatologie - Chirurgie Plastique Réparatrice et Esthétique - Chirurgie de la main (CHU de Dijon), Center for Integrative Brain Research, University of Washington [Seattle], Lipides - Nutrition - Cancer [Dijon - U1231] ( LNC ), Université de Bourgogne ( UB ) -AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université de Bourgogne ( UB ) -AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale ( INSERM ), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand ( CHU Dijon ), FHU TRANSLAD, Department of Neurology and Feil Family Brain and Mind Research Institute [New-York] ( BMRI ), The Research Institute of the McGill University Health Centre [Montréal, QC, Canada], Centre Hospitalier Régional Universitaire [Besançon] ( CHRU Besançon ), Centre Hospitalier Universitaire de Montpellier ( CHU Montpellier ), Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] ( CHRU Lille ), Département de chirurgie infantile [CHRU de Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] ( CHRU Montpellier ), Département de génétique médicale, maladies rares et médecine personnalisée [CHRU de Montpellier], Hôpital Femme Mère Enfant [CHU - HCL] ( HFME ), Hospices Civils de Lyon ( HCL ) -Hospices Civils de Lyon ( HCL ), University of Washington [Seattle]-Seattle Children's Research Institute, and McGill University
Subjects: hypomélanose d'ito, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, mosaïcisme, dysplasie ectodermique, Hypomélanose d’Ito, Dermatology, [ SDV.GEN.GH ] Life Sciences [q-bio]/Genetics/Human genetics, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, 3. Good health
Abstract: National audience; Introduction L’hypomélanose d’Ito est définie par l’association d’une hypopigmentation qui suit les lignes de Blaschko et de manifestations principalement neurologiques. Les autres atteintes associées sont variables. Elle peut être associée à diverses anomalies chromosomiques en mosaïque ou à des mutations MTOR lorsqu’elle s’associe à une hémimégalencéphalie. Nous rapportons un nouveau syndrome clinique avec hypomélanose d’Ito et atteinte neuroectodermique en lien avec des mutations postzygotiques de RHOA . Matériel et méthodes Dans le cadre de la cohorte Mosaic Unknown Skin Traits And Related Disorders (MUSTARD), nous avons étudié 5 patients par séquençage haut débit de l’exome complet ou ciblé, sur peau atteinte et dans le sang. Observations Les 5 patients, non apparentés, présentaient tous une hypopigmentation ou une hypotrichose linéaire, associée à une atteinte faciale bilatérale ou unilatérale (hypoplasie malaire, élargissement de la pyramide nasale), malformations dentaires avec dysplasie de l’émail, doigts et orteils courts, atteinte oculaire avec choroïdose myopique. L’IRM réalisée chez 3 patients a montré une leucoencéphalopathie asymptomatique avec hypersignal de la substance blanche et dilatation des espaces de Virchow. Résultats Chez les deux premiers patients, le séquençage de l’exome en profondeur (144X à 228X) sur peau atteinte a identifié une même mutation en mosaïque p.Glu47Lys du gène RHOA , confirmée par séquençage ciblé (taux allélique : 33,5 % et 23,1 %), absente du sang. Cette mutation a également été identifiée par séquençage ciblé chez deux des autres patients ayant un phénotype similaire. Le cinquième patient était porteur d’une autre mutation postzygotique de RHOA , Pro71Ser, identifiée par séquençage de l’exome. La transfection de plasmides porteurs de ces mutations de RHOA dans des cellules NIH 3T3 en culture a montré une diminution de l’étalement cellulaire, de la formation de fibre de stress, et de la phosphorylation des effecteurs de RhoA , MYPT1 et MLC2, suggérant un effet dominant-négatif de ces mutations. Discussion Nous avons identifié une affection neuroectodermique jamais décrite à notre connaissance, causée par des mutations en mosaïque de RHOA , qui code la protéine RhoA , une petite GTPase de la superfamille Ras, impliquée dans le chimiotactisme, le guidage axonal, et le contrôle du cycle cellulaire. En plus des anomalies fonctionnelles mises en évidence, la forte conservation de la séquence de RHOA au cours de l’évolution est en faveur du caractère pathogène des mutations identifiées. Conclusion Cette dysplasie ectodermique en mosaïque liée à RHOA s’ajoute aux syndromes causés par des mutations létales, pour lesquelles la survie embryonnaire n’est possible que par mosaïcisme. Il s’agit d’une de premières caractérisations moléculaires d’un mosaïcisme pigmentaire, qui souligne l’importance de RHOA dans le développement cutané.
Published: 2017

4. THN 102 for excessive daytime sleepiness associated with Parkinson's disease: a phase 2a trial

Author: Jean-Christophe, Corvol, Jean-Philippe, Azulay, Björn, Bosse, Yves, Dauvilliers, Luc, Defebvre, Fabian, Klostermann, Norbert, Kovacs, David, Maltête, William G, Ondo, Rajesh, Pahwa, Werner, Rein, Stéphane, Thobois, Martin, Valis, Aleksandar, Videnovic, Olivier, Rascol, Katarina, Zárubová, Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), NS-Park/FCRIN Network, UMS 015, Institut de Neurosciences de la Timone (INT), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Hôpital Gui de Chauliac [CHU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), CHU Montpellier, Université de Montpellier (UM), Département de neurologie [Lille], Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], University of Pécs Medical School (UP MS), University of Pecs, Service de neurologie [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU), Center for neurogenetics [Feil Family Brain and Mind Research Institute, Weill Cornell Medicine, New York], Weill Medical College of Cornell University [New York], University of Kansas Medical Center [Kansas City, KS, USA], Theranexus [Lyon], Institut des sciences cognitives Marc Jeannerod - Centre de neuroscience cognitive - UMR5229 (ISC-MJ), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), Hôpital neurologique et neurochirurgical Pierre Wertheimer [CHU - HCL], Hospices Civils de Lyon (HCL), Charles University [Prague] (CU), Massachusetts General Hospital [Boston], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), THN102-202 Study Investigators: Jean-Christophe Corvol, Jean-Philippe Azulay, Marek Baláž, Ralf Bodenschatz, Magdolna Bokor, Hana Brožová, Yves Dauvilliers, Luc Defebvre, Ondraj Fiala, Andràs Folyovich, Heinz Peter Herbst, Fabian Klostermann, Norbert Kovacs, Julianna Lajtos, Paul Lingor, David Maltête, Christian Oehlwein, Rajesh Pahwa, Jan Peregrin, Olivier Rascol, Daniela Rau, Ali Safavi, Joachim Springub, Jindra Svátová, Stéphane Thobois, Univ Lyon, Martin Valis, Làszlo Vécsei, Aleksandar Videnovic, Olga Waln, Katarina Zárubová, Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Hôpital Gui de Chauliac, Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Département de neurologie[Lille], Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), University of Kansas Medical Center [Lawrence], Institut des sciences cognitives Marc Jeannerod - Centre de neuroscience cognitive - UMR5229 (CNC), Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon, CHU Toulouse [Toulouse], and Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)
Subjects: Parkinson's disease, Excessive daytime sleepiness, Disorders of Excessive Somnolence, Placebo, sleepiness, 03 medical and health sciences, 0302 clinical medicine, Double-Blind Method, medicine, Clinical endpoint, Humans, 030304 developmental biology, 0303 health sciences, business.industry, Epworth Sleepiness Scale, Modafinil, Parkinson Disease, clinical trial, medicine.disease, Crossover study, 3. Good health, flecainide, Clinical trial, Drug Combinations, Neurology, Anesthesia, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Neurology (clinical), medicine.symptom, modafinil, business, 030217 neurology & neurosurgery, medicine.drug
Abstract: International audience; BackgroundExcessive daytime sleepiness (EDS) is a frequent and disabling symptom of Parkinson's disease (PD) without approved treatment. THN102 is a novel combination drug of modafinil and low-dose flecainide.ObjectiveThe aim of this study is to evaluate the safety and efficacy of THN102 in PD patients with EDS.MethodsThe method involved a randomized, double-blind, placebo-controlled, crossover trial testing two doses of THN102 (200 mg/d modafinil with 2 mg/d [200/2] or 18 mg/d flecainide [200/18]) versus placebo; 75 patients were exposed to treatment. The primary endpoint was safety. The primary efficacy outcome was the change in Epworth Sleepiness Scale (ESS) score.ResultsBoth doses of THN102 were well tolerated. ESS significantly improved with THN102 200/2 (least square means vs. placebo [95% confidence interval, CI]: −1.4 [−2.49; −0.31], P = 0.012) but did not change significantly with the 200/18 dosage.ConclusionsTHN102 was well tolerated and showed a signal of efficacy at the 200/2 dose, supporting further development for the treatment of EDS in PD. © 2021 International Parkinson and Movement Disorder Society
Published: 2021

5. Goldfish Response to Chronic Hypoxia: Mitochondrial Respiration, Fuel Preference and Energy Metabolism

Author: Caroline Romestaing, Matthew E. Pamenter, Jean-Michel Weber, Elie Farhat, Hang Cheng, Department of Biology, University of Ottawa, 10 Marie Curie, Ottawa, Ontario, Canada KIN 6N5, University of Ottawa [Ottawa], Équipe 4 - Écophysiologie, Comportement, Conservation (E2C), Laboratoire d'Ecologie des Hydrosystèmes Naturels et Anthropisés (LEHNA), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-École Nationale des Travaux Publics de l'État (ENTPE)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-École Nationale des Travaux Publics de l'État (ENTPE)-Centre National de la Recherche Scientifique (CNRS), Faculty of Medicine, University of Ottawa Brain and Mind Research Institute, and Natural Sciences and Engineering Research Council of Canada (NSERC)2015-0422905955-2017Canada Research Chairs Ontario Early Research Award
Subjects: 030110 physiology, 0106 biological sciences, 0301 basic medicine, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Na+/K+-ATPase, lcsh:QR1-502, Oxidative phosphorylation, Mitochondrion, 010603 evolutionary biology, 01 natural sciences, Biochemistry, lcsh:Microbiology, Article, beta-oxidation, 03 medical and health sciences, hypoxia tolerance, metabolic suppression, mitochondria, glycolysis, citrate synthase, Internal medicine, Respiration, medicine, Citrate synthase, Glycolysis, Molecular Biology, Beta oxidation, biology, Chemistry, Hypoxia (medical), Endocrinology, biology.protein, sense organs, medicine.symptom, [SDE.BE]Environmental Sciences/Biodiversity and Ecology
Abstract: Hypometabolism is a hallmark strategy of hypoxia tolerance. To identify potential mechanisms of metabolic suppression, we have used the goldfish to quantify the effects of chronically low oxygen (4 weeks; 10% air saturation) on mitochondrial respiration capacity and fuel preference. The responses of key enzymes from glycolysis, β-oxidation and the tricarboxylic acid (TCA) cycle, and Na+/K+-ATPase were also monitored in various tissues of this champion of hypoxia tolerance. Results show that mitochondrial respiration of individual tissues depends on oxygen availability as well as metabolic fuel oxidized. All the respiration parameters measured in this study (LEAK, OXPHOS, Respiratory Control Ratio, CCCP-uncoupled, and COX) are affected by hypoxia, at least for one of the metabolic fuels. However, no common pattern of changes in respiration states is observed across tissues, except for the general downregulation of COX that may help metabolic suppression. Hypoxia causes the brain to switch from carbohydrates to lipids, with no clear fuel preference in other tissues. It also downregulates brain Na+/K+-ATPase (40%) and causes widespread tissue-specific effects on glycolysis and beta-oxidation. This study shows that hypoxia-acclimated goldfish mainly promote metabolic suppression by adjusting the glycolytic supply of pyruvate, reducing brain Na+/K+-ATPase, and downregulating COX, most likely decreasing mitochondrial density.
Published: 2021

6. Isolation of human fibroadipogenic progenitors and satellite cells from frozen muscle biopsies

Author: Vincent Mouly, Anne Bigot, Xavier Suárez-Calvet, Susana López-Fernández, Jorge Alonso-Pérez, Gemma Pons, Eduard Gallardo, Patricia Piñol-Jurado, Isabel Illa, Jyoti K. Jaiswal, E. Fernández-Simón, Jordi Diaz-Manera, Cinta Lleixà, Ana Carrasco-Rozas, Laura Soria, UMRS974, Université Pierre et Marie Curie (Paris 6), Hospital de la Santa Creu i Sant Pau, Centre de Recherche en Myologie, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Center for neurogenetics [Feil Family Brain and Mind Research Institute, Weill Cornell Medicine, New York], Weill Medical College of Cornell University [New York], and Centre de recherche en Myologie – U974 SU-INSERM
Subjects: Male, Duchenne muscular dystrophy, Biopsy, Cell, Cell Separation, muscle explant muscle biopsies, Biochemistry, 0302 clinical medicine, Muscular dystrophy, Tissue homeostasis, ComputingMilieux_MISCELLANEOUS, satellite cells, 0303 health sciences, Myogenesis, Cell Differentiation, Middle Aged, Healthy Volunteers, Cell biology, medicine.anatomical_structure, [SDV.MP.VIR]Life Sciences [q-bio]/Microbiology and Parasitology/Virology, Female, Biotechnology, Adult, Cell type, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Satellite Cells, Skeletal Muscle, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, Biology, 03 medical and health sciences, Young Adult, Genetics, medicine, Humans, Progenitor cell, Muscle, Skeletal, Molecular Biology, neoplasms, 030304 developmental biology, Aged, Cryopreservation, Multipotent Stem Cells, fibroadipogenic progenitors cells, Skeletal muscle, medicine.disease, digestive system diseases, Muscular Dystrophy, Duchenne, [SDV.IMM.VAC]Life Sciences [q-bio]/Immunology/Vaccinology, 030217 neurology & neurosurgery
Abstract: Altres ajuts: Association Française contre les Myopathies (22525) Altres ajuts: Fundación Isabel Gemio Skeletal muscle contains multiple cell types that work together to maintain tissue homeostasis. Among these, satellite cells (SC) and fibroadipogenic progenitors cells (FAPs) are the two main stem cell pools. Studies of these cells using animal models have shown the importance of interactions between these cells in repair of healthy muscle, and degeneration of dystrophic muscle. Due to the unavailability of fresh patient muscle biopsies, similar analysis of interactions between human FAPs and SCs is limited especially among the muscular dystrophy patients. To address this issue here we describe a method that allows the use of frozen human skeletal muscle biopsies to simultaneously isolate and grow SCs and FAPs from healthy or dystrophic patients. We show that while the purified SCs differentiate into mature myotubes, purified FAPs can differentiate into adipocytes or fibroblasts demonstrating their multipotency. We find that these FAPs can be immortalized and the immortalized FAPs (iFAPs) retain their multipotency. These approaches open the door for carrying out personalized analysis of patient FAPs and interactions with the SCs that lead to muscle loss.
Published: 2021

7. Utility of Computed Tomography to Predict Ventricular Arrhythmias in Patients With Nonischemic Cardiomyopathy Receiving Cardiac Resynchronization Therapy

Author: Christophe Leclercq, Jackie Szymonifka, Raphaël P. Martins, Vincent Galand, Brian B. Ghoshhajra, Jagmeet P. Singh, Saumya Das, Quynh A. Truong, Laboratoire Traitement du Signal et de l'Image (LTSI), Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM), Harvard Medical School [Boston] (HMS), CHU Pontchaillou [Rennes], New York University [New York] (NYU), NYU System (NYU), Center for neurogenetics [Feil Family Brain and Mind Research Institute, Weill Cornell Medicine, New York], Weill Medical College of Cornell University [New York], K23HL098370, Foundation for the National Institutes of Health, National Heart, Lung, and Blood Institute, Abbott Pharmaceuticals, Jonchère, Laurent, Université de Rennes 1 (UR1), and Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut National de la Santé et de la Recherche Médicale (INSERM)
Subjects: Tachycardia, Male, medicine.medical_specialty, genetic structures, [SDV.IB.IMA]Life Sciences [q-bio]/Bioengineering/Imaging, medicine.medical_treatment, Cardiac resynchronization therapy, Computed tomography, Pilot Projects, 030204 cardiovascular system & hematology, Cardiac Resynchronization Therapy, 03 medical and health sciences, 0302 clinical medicine, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, Predictive Value of Tests, Internal medicine, medicine, Humans, In patient, cardiovascular diseases, 030212 general & internal medicine, Prospective Studies, Prospective cohort study, Aged, medicine.diagnostic_test, business.industry, Middle Aged, [SDV.MHEP.CSC] Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, Nonischemic cardiomyopathy, [SDV.IB.IMA] Life Sciences [q-bio]/Bioengineering/Imaging, Predictive value of tests, Cardiology, Tachycardia, Ventricular, cardiovascular system, Female, medicine.symptom, Cardiology and Cardiovascular Medicine, business, Wall thickness, Cardiomyopathies, Tomography, X-Ray Computed
Abstract: International audience; The residual risk of ventricular arrhythmia (VA) after cardiac resynchronization therapy (CRT) implantation in patients with nonischemic cardiomyopathy (NICM) remains difficult to evaluate. The impact of left ventricular (LV) wall thickness (WT) measured using computed tomography (CT) on the occurrence of VA after CRT implantation has never been investigated. In this pilot study, we examined the association of LV WT and the occurrence of VA in NICM patients receiving CRT. Thirty three patients with NICM scheduled for CRT underwent preprocedural CT. Reduced LV WT was defined as WT
Published: 2020

8. Clinical and advanced neurophysiology in the prognostic and diagnostic evaluation of disorders of consciousness: review of an IFCN-endorsed expert group

Author: A. Comanducci, Nicholas D. Schiff, M. De Lucia, Marcello Massimini, Caroline Schnakers, Andrea O. Rossetti, Elsa Juan, Raechelle M. Gibson, Lionel Naccache, Steven Laureys, Mario Rosanova, Jan Claassen, Mélanie Boly, Jacobo D. Sitt, Adrian M. Owen, Istituti di Ricovero e Cura a Carattere Scientifico (IRCCS), Fondazione Don Carlo Gnocchi, University of Wisconsin-Madison, Columbia University Irving Medical Center (CUIMC), New York Presbyterian Hospital, Centre Hospitalier Universitaire Vaudois [Lausanne] (CHUV), Université de Lausanne (UNIL), University of Western Ontario (UWO), Centre Hospitalier Universitaire de Liège (CHU-Liège), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Università degli Studi di Milano [Milano] (UNIMI), Center for neurogenetics [Feil Family Brain and Mind Research Institute, Weill Cornell Medicine, New York], Weill Medical College of Cornell University [New York], Gestionnaire, Hal Sorbonne Université, Université de Lausanne = University of Lausanne (UNIL), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), and Università degli Studi di Milano = University of Milan (UNIMI)
Subjects: medicine.medical_specialty, Consciousness, media_common.quotation_subject, medicine.medical_treatment, evoked potentials, coma, Electroencephalography, Diagnostic evaluation, event-related potentials, vegetative state, 050105 experimental psychology, 03 medical and health sciences, 0302 clinical medicine, Event-related potential, Physiology (medical), medicine, Humans, 0501 psychology and cognitive sciences, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], EEG, Intensive care medicine, disorders of consciousness, media_common, Persistent vegetative state, Rehabilitation, medicine.diagnostic_test, business.industry, 05 social sciences, Minimally conscious state, Neurophysiology, Prognosis, medicine.disease, Sensory Systems, minimally conscious state, Neurology, Consciousness Disorders, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Neurology (clinical), business, 030217 neurology & neurosurgery
Abstract: International audience; The analysis of spontaneous EEG activity and evoked potentialsis a cornerstone of the instrumental evaluation of patients with disorders of consciousness (DoC). Thepast few years have witnessed an unprecedented surge in EEG-related research applied to the prediction and detection of recovery of consciousness after severe brain injury,opening up the prospect that new concepts and tools may be available at the bedside. This paper provides a comprehensive, critical overview of bothconsolidated and investigational electrophysiological techniquesfor the prognostic and diagnostic assessment of DoC.We describe conventional clinical EEG approaches, then focus on evoked and event-related potentials, and finally we analyze the potential of novel research findings. In doing so, we (i) draw a distinction between acute, prolonged and chronic phases of DoC, (ii) attempt to relate both clinical and research findings to the underlying neuronal processes and (iii) discuss technical and conceptual caveats.The primary aim of this narrative review is to bridge the gap between standard and emerging electrophysiological measures for the detection and prediction of recovery of consciousness. The ultimate scope is to provide a reference and common ground for academic researchers active in the field of neurophysiology and clinicians engaged in intensive care unit and rehabilitation.
Published: 2020
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9. miR-9 Controls the Timing of Neurogenesis through the Direct Inhibition of Antagonistic Factors

Author: Øyvind Drivenes, Marion Coolen, Laure Bally-Cuif, Denis Thieffry, Thomas Becker, Neurobiologie et Développement (N&eD), Centre National de la Recherche Scientifique (CNRS), Institut de Neurobiologie Alfred Fessard (INAF), Institut de biologie de l'ENS Paris (IBENS), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Département de Biologie - ENS Paris, École normale supérieure - Paris (ENS Paris), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure - Paris (ENS Paris), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Sars International Centre for Marine Molecular Biology, University of Bergen (UiB), Brain and Mind Research Institute, University of Technology Sydney (UTS), Institut de biologie de l'ENS Paris (UMR 8197/1024) (IBENS), Département de Biologie - ENS Paris, and Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)
Subjects: MESH: Cell Differentiation, MESH: Alanine, Neurogenesis, MESH: Neurons, MESH: Zebrafish Proteins, MESH: Cell Cycle, ELAV-Like Protein 3, Hindbrain, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, 0302 clinical medicine, MESH: Basic Helix-Loop-Helix Transcription Factors, Basic Helix-Loop-Helix Transcription Factors, Animals, MESH: Animals, MESH: Zebrafish, Molecular Biology, Zebrafish, Gene, 030304 developmental biology, Progenitor, Neurons, 0303 health sciences, Alanine, biology, Cell Cycle, Embryogenesis, MESH: Hu Paraneoplastic Encephalomyelitis Antigens, Cell Differentiation, Azepines, Cell Biology, Anatomy, Zebrafish Proteins, biology.organism_classification, MESH: Neurogenesis, DNA-Binding Proteins, MicroRNAs, ELAV Proteins, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Ventricular zone, MESH: Azepines, MESH: MicroRNAs, Neuroscience, MESH: DNA-Binding Proteins, 030217 neurology & neurosurgery, Function (biology), Developmental Biology
Abstract: International audience; The timing of commitment and cell-cycle exit within progenitor populations during neurogenesis is a fundamental decision that impacts both the number and identity of neurons produced during development. We show here that microRNA-9 plays a key role in this process through the direct inhibition of targets with antagonistic functions. Across the ventricular zone of the developing zebrafish hindbrain, miR-9 expression occurs at a range of commitment stages. Abrogating miR-9 function transiently delays cell-cycle exit, leading to the increased generation of late-born neuronal populations. Target protection analyses in vivo identify the progenitor-promoting genes her6 and zic5 and the cell-cycle exit-promoting gene elavl3/HuC as sequential targets of miR-9 as neurogenesis proceeds. We propose that miR-9 activity generates an ambivalent progenitor state poised to respond to both progenitor maintenance and commitment cues, which may be necessary to adjust neuronal production to local extrinsic signals during late embryogenesis.
Published: 2012
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10. Targeting α-synuclein for treatment of Parkinson's disease: mechanistic and therapeutic considerations

Author: Wassilios G. Meissner, Stéphane Hunot, Gregory A. Petsko, Miquel Vila, Erwan Bezard, C. Warren Olanow, Philippe Gorry, Andrew B. Singleton, Serge Przedborski, Kalpana M Merchant, Mathieu Bourdenx, Benjamin Dehay, Institut des Maladies Neurodégénératives [Bordeaux] (IMN), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), Groupe de Recherche en Economie Théorique et Appliquée (GREThA), Centre National de la Recherche Scientifique (CNRS)-Université de Bordeaux (UB), Columbia University [New York], Neurodegenerative Diseases Research Group (CIBERNED), Vall d'Hebron Research Institute-Center for Networked Biomedical Research on Neurodegenerative Diseases, Autonomous University of Barcelona, Catalan Institution for Research and Advanced Studies, Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Molecular Genetics Section and Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health [Bethesda] (NIH), Mount Sinai School of Medicine, Department of Psychiatry-Icahn School of Medicine at Mount Sinai [New York] (MSSM), TransThera Consulting Co, Weill Medical College of Cornell University [New York], Departments of Neurology, Pathology and Cell Biology, and the Center for Motor Neuron Biology and Disease, Centro de Investigacion Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III [Madrid] (ISC), Yale University School of Medicine, Department of Clinical Genetics, Departments of Neurology and Neuroscience, Icahn School of Medicine at Mount Sinai [New York] (MSSM), Physiologie et physiopathologie de la signalisation cellulaire (PPSC), Université Bordeaux Segalen - Bordeaux 2-Université Sciences et Technologies - Bordeaux 1-CHU Bordeaux [Bordeaux]-Centre National de la Recherche Scientifique (CNRS), Research Unit of Theoretical & Applied Economics, University of Bordeaux, Centre National de la Recherche Scientifique Unité Mixte de Recherche, Department of Biochemistry and Molecular Biology, Institució Catalana de Recerca i Estudis Avançats (ICREA), Sorbonne Université (SU), Department of Neurology and Feil Family Brain and Mind Research Institute [New-York] (BMRI), Vall d'Hebron University Hospital [Barcelona], Department of Computer Science and Artificial Intelligence (DECSAI), University of Granada [Granada], University of Barcelona, Sorbonne Université, Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Laboratoire Mouvement Adaptation Cognition (MAC), Université Bordeaux Segalen - Bordeaux 2-Centre National de la Recherche Scientifique (CNRS), Service de neurologie [Bordeaux], CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Brandeis University, Université de Bordeaux (UB), Centro de Investigación Biomédica en Red para Enfermedades Neurodegenerativas (Ciberned), Sorbonne Universités, Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [APHP]-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Dehay, Benjamin, Universitat Autònoma de Barcelona (UAB), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)
Subjects: Programmed cell death, Parkinson's disease, [SDV]Life Sciences [q-bio], Disease, Biology, Pathogenesis, 03 medical and health sciences, 0302 clinical medicine, Drug Discovery, medicine, Animals, Humans, ComputingMilieux_MISCELLANEOUS, 030304 developmental biology, 0303 health sciences, [QFIN]Quantitative Finance [q-fin], Drug discovery, Neurodegeneration, Parkinson Disease, medicine.disease, 3. Good health, nervous system diseases, [SDV] Life Sciences [q-bio], Drug development, nervous system, alpha-Synuclein, α synuclein, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Neurology (clinical), Neuroscience, 030217 neurology & neurosurgery
Abstract: International audience; Progressive neuronal cell loss in a small subset of brainstem and mesencephalic nuclei and widespread aggregation of the α-synuclein protein in the form of Lewy bodies and Lewy neurites are neuropathological hallmarks of Parkinson's disease. Most cases occur sporadically, but mutations in several genes, including SNCA, which encodes α-synuclein, are associated with disease development. The discovery and development of therapeutic strategies to block cell death in Parkinson's disease has been limited by a lack of understanding of the mechanisms driving neurodegeneration. However, increasing evidence of multiple pivotal roles of α-synuclein in the pathogenesis of Parkinson's disease has led researchers to consider the therapeutic potential of several strategies aimed at reduction of α-synuclein toxicity. We critically assess the potential of experimental therapies targeting α-synuclein, and discuss steps that need to be taken for target validation and drug development.
Published: 2015

11. Long-range evolutionary constraints reveal cis-regulatory interactions on the human X chromosome

Author: Naville, Magali, Ishibashi, Minaka, Ferg, Marco, Bengani, Hemant, Rinkwitz, Silke, Krecsmarik, Monika, Hawkins, Thomas A., Wilson, Stephen W., Manning, Elizabeth, Chilamakuri, Chandra S. R., Wilson, David I., Louis, Alexandra, Lucy Raymond, F., Rastegar, Sepand, Strähle, Uwe, Lenhard, Boris, Bally-Cuif, Laure, van Heyningen, Veronica, FitzPatrick, David R., Becker, Thomas S., Roest Crollius, Hugues, Institut de biologie de l'ENS Paris (UMR 8197/1024) (IBENS), Département de Biologie - ENS Paris, École normale supérieure - Paris (ENS Paris)-École normale supérieure - Paris (ENS Paris)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Brain and Mind Research Institute, University of Technology Sydney (UTS), Karlsruhe Institute of Technology (KIT), MRC Human Genetics Unit, MRC Institute of Medical Genetic and Molecular Medicine, Institut des Neurosciences de Paris-Saclay (Neuro-PSI), Université Paris-Sud - Paris 11 (UP11)-Centre National de la Recherche Scientifique (CNRS), C.D.B. Division of Biosciences, Anatomy building UCL, Department of Tumor Biology, The Norwegian Radium Hospital, University of Southampton and University Hospital Southampton NHS Foundation Trust, Centre for Human Development, Stem Cells and Regeneration, MP808, Faculty of Medicine, Cambridge Institute for Medical Research (CIMR), University of Cambridge [UK] (CAM), Institute of Clinical Sciences, MRC Clinical Sciences Centre, Faculty of Medicine, Imperial College London, University of Bergen (UIB), Institut de biologie de l'ENS Paris (IBENS), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Département de Biologie - ENS Paris, École normale supérieure - Paris (ENS Paris), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure - Paris (ENS Paris), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut des Neurosciences Paris-Saclay (NeuroPSI), University of Bergen (UiB), and Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Département de Biologie - ENS Paris
Subjects: Life sciences, biology, Genetic Linkage, DATABASE, Evolution, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Gene Expression, Article, DISEASE, Animals, Genetically Modified, Evolution, Molecular, Midical sciences: 700::Basic medical, dental and veterinary sciences: 710::Medical genetics: 714 [VDP], Medisinske Fag: 700 [VDP], ddc:570, ELEMENTS, Genetics, Animals, Humans, Selection, Genetic, Zebrafish, GENE-EXPRESSION, Gene Rearrangement, TOOLS, Chromosomes, Human, X, [SDV.NEU.PC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Psychology and behavior, [SDV.NEU.SC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Cognitive Sciences, GENOMIC SEQUENCES, IN-SITU HYBRIDIZATION, ENHANCERS, Biological sciences, Medisinske fag: 700::Basale medisinske, odontologiske og veterinærmedisinske fag: 710::Medisinsk genetikk: 714 [VDP], Enhancer Elements, Genetic, HUMAN CELL-TYPES, CONSERVED SYNTENY
Abstract: Enhancers can regulate the transcription of genes over long genomic distances. This is thought to lead to selection against genomic rearrangements within such regions that may disrupt this functional linkage. Here we test this concept experimentally using the human X chromosome. We describe a scoring method to identify evolutionary maintenance of linkage between conserved noncoding elements and neighbouring genes. Chromatin marks associated with enhancer function are strongly correlated with this linkage score. We test >1,000 putative enhancers by transgenesis assays in zebrafish to ascertain the identity of the target gene. The majority of active enhancers drive a transgenic expression in a pattern consistent with the known expression of a linked gene. These results show that evolutionary maintenance of linkage is a reliable predictor of an enhancer's function, and provide new information to discover the genetic basis of diseases caused by the mis-regulation of gene expression., Enhancers regulate the transcription of genes over long genomic distances. Here, the authors show that enhancer function is correlated with maintenance of linkage between non-coding elements and neighbouring genes in the human X chromosome and that enhancers in zebrafish drive expression in a pattern consistent with the expression of a linked gene.
Published: 2015
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12. Chemical genetics unveils a key role of mitochondrial dynamics, cytochrome c release and IP3R activity in muscular dystrophy

Author: Nicolas Brouilly, Jean Giacomotto, Ludivine Walter, Marie-Christine Mariol, Thomas Becker, Kathrin Gieseler, Laurent Ségalat, Joachim Berger, Peter D. Currie, Centre de génétique et de physiologie moléculaire et cellulaire (CGPhiMC), Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon, Laboratoire de bioénergétique fondamentale et appliquée (LBFA), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Joseph Fourier - Grenoble 1 (UJF), Sars International Centre for Marine Molecular Biology, University of Bergen (UiB), Brain and Mind Research Institute, and University of Technology Sydney (UTS)
Subjects: Duchenne muscular dystrophy, Methazolamide, Sequence Homology, Biology, Mitochondrion, Mitochondrial Dynamics, Animals, Genetically Modified, Mitochondrial Proteins, 03 medical and health sciences, Cyclophilins, 0302 clinical medicine, Genetics, medicine, Animals, Humans, Inositol 1,4,5-Trisphosphate Receptors, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Muscular dystrophy, Caenorhabditis elegans, Caenorhabditis elegans Proteins, Molecular Biology, Zebrafish, Genetics (clinical), Phylogeny, 030304 developmental biology, Peptidylprolyl isomerase, 0303 health sciences, Binding Sites, Cell Death, Cytochrome c, Cytochromes c, General Medicine, Inositol trisphosphate receptor, Muscular Dystrophy, Animal, medicine.disease, biology.organism_classification, 3. Good health, Cell biology, Muscular Dystrophy, Duchenne, Biochemistry, Mitochondrial permeability transition pore, Gene Knockdown Techniques, biology.protein, Cyclosporine, 030217 neurology & neurosurgery
Abstract: International audience; Duchenne muscular dystrophy (DMD) is a neuromuscular disease caused by mutations in the dystrophin gene. The subcellular mechanisms of DMD remain poorly understood and there is currently no curative treatment available. Using a Caenorhabditis elegans model for DMD as a pharmacologic and genetic tool, we found that cyclosporine A (CsA) reduces muscle degeneration at low dose and acts, at least in part, through a mitochondrial cyclophilin D, CYN-1. We thus hypothesized that CsA acts on mitochondrial permeability modulation through cyclophilin D inhibition. Mitochondrial patterns and dynamics were analyzed, which revealed dramatic mitochondrial fragmentation not only in dystrophic nematodes, but also in a zebrafish model for DMD. This abnormal mitochondrial fragmentation occurs before any obvious sign of degeneration can be detected. Moreover, we demonstrate that blocking/delaying mitochondrial fragmentation by knocking down the fission-promoting gene drp-1 reduces muscle degeneration and improves locomotion abilities of dystrophic nematodes. Further experiments revealed that cytochrome c is involved in muscle degeneration in C. elegans and seems to act, at least in part, through an interaction with the inositol trisphosphate receptor calcium channel, ITR-1. Altogether, our findings reveal that mitochondria play a key role in the early process of muscle degeneration and may be a target of choice for the design of novel therapeutics for DMD. In addition, our results provide the first indication in the nematode that (i) mitochondrial permeability transition can occur and (ii) cytochrome c can act in cell death.
Published: 2013

13. Persistence on therapy and propensity matched outcome comparison of two subcutaneous interferon beta 1a dosages for multiple sclerosis

Author: Tobias Derfuss, Tomas Kalincik, Timothy Spelman, Maria Trojano, Pierre Duquette, Guillermo Izquierdo, Pierre Grammond, LUGARESI, ALESSANDRA, Raymond Hupperts, Edgardo Cristiano, Vincent Van Pesch, Francois Grand’Maison, Daniele La Spitaleri, Maria Edite Rio, Sholmo Flechter, Celia Oreja Guevara, Giorgio Giuliani, Aldo Savino, Maria Pia Amato, Thor Petersen, Ricardo Fernandez Bolanos, Roberto Bergamaschi, Gerardo Iuliano, Cavit Boz, Jeannette Lechner Scott, Norma Deri, Orla Gray, Freek Verheul, Marcela Fiol, Michael Barnett, Erik van Munster, Vetere Santiago, Fraser Moore, Mark Slee, Maria Laura Saladino, Raed Alroughani, Cameron Shaw, Krisztian Kasa, Tatjana Petkovska Boskova, Leontien den Braber Moerland, Joab Chapman, Eli Skromne, Joseph Herbert, Dieter Poehlau, Merrilee Needham, Elizabeth Alejandra Bacile Bacile, Walter Oleschko Arruda, Mark Paine, Bhim Singhal, Steve Vucic, Jose Antonio Cabrera Gomez, Helmut Butzkueven, MSBase Study Group, Klinische Neurowetenschappen, RS: MHeNs School for Mental Health and Neuroscience, UCL - SSS/IONS/CEMO - Pôle Cellulaire et moléculaire, Tobias Derfu, Tomas Kalincik, Timothy Spelman, Maria Trojano, Pierre Duquette, Guillermo Izquierdo, Pierre Grammond, Alessandra Lugaresi, Raymond Huppert, Edgardo Cristiano, Vincent Van Pesch, Francois Grand’Maison, Daniele La Spitaleri, Maria Edite Rio, Sholmo Flechter, Celia Oreja-Guevara, Giorgio Giuliani, Aldo Savino, Maria Pia Amato, Thor Petersen, Ricardo Fernandez-Bolano, Roberto Bergamaschi, Gerardo Iuliano, Cavit Boz, Jeannette Lechner-Scott, Norma Deri, Orla Gray, Freek Verheul, Marcela Fiol, Michael Barnett, Erik van Munster, Vetere Santiago, Fraser Moore, Mark Slee, Maria Laura Saladino, Raed Alroughani, Cameron Shaw, Krisztian Kasa, Tatjana Petkovska-Boskova, Leontien den Braber-Moerland, Joab Chapman, Eli Skromne, Joseph Herbert, Dieter Poehlau, Merrilee Needham, Elizabeth Alejandra Bacile Bacile, Walter Oleschko Arruda, Mark Paine, Bhim Singhal, Steve Vucic, Jose Antonio Cabrera-Gomez, Helmut Butzkueven, MSBase Study Group, The MSBase Study Group, [Karkincic,T, and Butzkueven,H] Departments of Medicine and Neurology, University of Melbourne and Royal Melbourne Hospital, Melbourne, Australia. [Spelman,T] Department of Neurology, Royal Melbourne Hospital, Melbourne, Australia. [Trojano,M] Department of Basic Medical Sciences, Neuroscience and Sense Organs, University of Bari, Bari, Italy. [Duquette,P] Hòpital Notre Dame, Montreal, Canada. [Izquierdo,G] Hospital Universitario Virgen Macarena, Sevilla, Spain. [Grammond,P] Hotel-Dieu de Levis, Quebec, Canada. [Lugaresi,A] MS Center, Department of Neuroscience and Imaging, University ‘G. d’Annunzio’, Chieti, Italy. [Hupperts,R] Maaslandziekenhuis, Sittard, The Netherlands. [Cristiano,E] Hospital Italiano, Buenos Aires, Argentina. [Van Pesch,V] Cliniques Universitaires Saint-Luc, Brussels, Belgium. [Grand´Maison,F ]Neuro Rive-Sud, Hòpital Charles LeMoyne, Quebec, Canada. [La Spitaleri,D] AORN San Giuseppe Moscati, Avellino, Italy. [Rio,ME] Hospital S. Joao, Porto, Portugal. [Flechter,S] Assaf Harofeh Medical Center, Beer-Yaakov, Israel. [Oreja-Guevera,C] University Hospital San Carlos, IdISSC, Madrid, Spain. [Giuliani,G] Ospedale di Macerata, Macerata, Italy. [Savino,A] Consultorio Privado, Buenos Aires, Argentina. [Amato,MP] Department NEUROFARBA, Section of Neurology, University of Florence, Florence, Italy. [Petersen,T] Kommunehospitalet, Aarhus C, Denmark. [Fernandez-Bolanos,R] Hospital Universitario Virgen de Valme, Seville, Spain. [Bergamaschi,R] Neurological Institute IRCCS Mondino, Pavia, Italy. [Iuliano,G] Ospedali Riuniti di Salerno, Salerno, Italy. [Boz,C] Karadeniz Technical University, Trabzon, Turkey. [Lechner-Scott,J] John Hunter Hospital, Newcastle, Australia. [Deri,N] Hospital Fernandez, Buenos Aires, Argentina.[Gray,O] Craigavon Area Hospital, Portadown, United Kingdom. [Verheul,F] Groen Hart Ziekenhuis, Gouda, The Netherlands. [Fiol,M] FLENI, Buenos Aires, Argentina. [Barnett,M] Brain and Mind Research Institute, Sydney, Australia. [van Munster,E] Jeroen Bosch Ziekenhuis, ‘s-Hertogenbosch, The Netherlands. [Santiago,V]HIGA Gral, San Martin La Plata, Argentina. [Moore,F] Jewish General Hospital, McGill University, Montreal, Canada. [Slee,M] Flinders University and Medical Centre, Adelaide, Australia. [Saladino,ML] INEBA, Buenos Aires, Argentina. [Alroughani,R] Amiri Hospital, Kuwait City, Kuwait. [Shaw,C] Geelong Hospital, Geelong, Australia. [Kasa,K] Jahn Ferenc Teaching Hospital, Budapest, Hungary. [Petkovska-Boskova,T] Clinic of Neurology Clinical Center, Skopje, Macedonia. [den Braber-Moerland,L] Francicus Ziekenhuis, Roosendaal, The Netherlands. [Chapman,J] Sheba Medical Center, Tel Hashomer, Israel. [Skromne,E] Hospital Angeles Mexico City, Lomas, Mexico. [Herbert,J] New York University Hospital for Joint Diseases, New York, New York, United States of America. [Poehlau,D] Multiple Sclerosis Centre Kamillus-Klinik, Asbach, Germany. [Needham,M] Royal North Shore Hospital, Sydney, Australi. [Bacile Bacile,EA] Instituto de Neurociencias Cordoba, Cordoba, Argentin. [Arruda,WO] Hospital Ecoville, Curitiba, Brazil. [Paine, M] St Vincent’s Hospital, Melbourne, Australia. [Sighal,B] Bombay Hospital Institute of Medical Sciences, Mumbai, India. [Vucic,S] Westmead Hospital, Sydney, Australia. [Cabrera-Gomez,JA] Centro Internacional de Restauracion Neurologica, Havana, Cuba. [Butzkueven,H] Department of Neurology, Box Hill Hospital and Monash University, Melbourne, Australia.
Subjects: Male, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Therapeutics::Patient Care::Withholding Treatment [Medical Subject Headings], Analytical, Diagnostic and Therapeutic Techniques and Equipment::Diagnosis::Diagnostic Techniques and Procedures::Diagnostic Imaging::Magnetic Resonance Imaging [Medical Subject Headings], Kaplan-Meier Estimate, law.invention, Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings], Randomized controlled trial, law, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Statistics as Topic::Models, Statistical::Likelihood Functions [Medical Subject Headings], Longitudinal Studies, Non-U.S. Gov't, Espectroscopía de resonancia magnética, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Therapeutics::Drug Therapy::Drug Administration Schedule [Medical Subject Headings], Likelihood Functions, Multidisciplinary, Adulto, Subcutaneous, Research Support, Non-U.S. Gov't, Statistics, Drug Information, Magnetic Resonance Imaging, Clinical Trial, Funciones de verosimilitud, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Epidemiologic Research Design::Reproducibility of Results [Medical Subject Headings], Analytical, Diagnostic and Therapeutic Techniques and Equipment::Therapeutics::Drug Therapy::Drug Administration Routes::Injections::Injections, Subcutaneous [Medical Subject Headings], Treatment Outcome, Relación dosis-respuesta a droga, Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Peptides::Intercellular Signaling Peptides and Proteins::Cytokines::Interferons::Interferon Type I::Interferon-beta [Medical Subject Headings], Neurology, Observational Studies, Medicine, Female, Drug, Interferon beta-1a, Research Article, medicine.drug, Adult, Drugs and Devices, medicine.medical_specialty, Multiple Sclerosis, Clinical Research Design, Science, Injections, Subcutaneous, Cumplimiento y adherencia al tratamiento, Reproducibilidad de los resultados, Check Tags::Male [Medical Subject Headings], Biostatistics, Diseases::Nervous System Diseases::Autoimmune Diseases of the Nervous System::Demyelinating Autoimmune Diseases, CNS::Multiple Sclerosis [Medical Subject Headings], Research Support, Drug Administration Schedule, Autoimmune Diseases, Injections, Medication Adherence, Dose-Response Relationship, Adverse Reactions, Internal medicine, Covariate, Named Groups::Persons::Age Groups::Adult [Medical Subject Headings], medicine, Journal Article, Humans, Comparative Study, Statistical Methods, Adverse effect, Propensity Score, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Diagnosis::Prognosis::Treatment Outcome [Medical Subject Headings], Demography, Interferón beta, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Statistics as Topic::Survival Analysis::Kaplan-Meier Estimate [Medical Subject Headings], Dose-Response Relationship, Drug, business.industry, Phenomena and Processes::Physiological Phenomena::Pharmacological Phenomena::Dose-Response Relationship, Drug [Medical Subject Headings], Multiple sclerosis, Reproducibility of Results, Inyecciones subcutáneas, multiple sclerosis drug therapy, Interferon-beta, medicine.disease, Disciplines and Occupations::Social Sciences::Demography [Medical Subject Headings], Demyelinating Disorders, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Statistics as Topic::Probability::Propensity Score [Medical Subject Headings], Clinical trial, Check Tags::Female [Medical Subject Headings], Withholding Treatment, Esclerosis múltiple, Psychiatry and Psychology::Behavior and Behavior Mechanisms::Behavior::Health Behavior::Patient Compliance::Medication Adherence [Medical Subject Headings], Propensity score matching, Clinical Immunology, Observational study, Resultado del tratamiento, business, Privación del tratamiento, Mathematics
Abstract: Clinical Trial; Comparative Study; Journal Article; Research Support, Non-U.S. Gov't; OBJECTIVES To compare treatment persistence between two dosages of interferon β-1a in a large observational multiple sclerosis registry and assess disease outcomes of first line MS treatment at these dosages using propensity scoring to adjust for baseline imbalance in disease characteristics. METHODS Treatment discontinuations were evaluated in all patients within the MSBase registry who commenced interferon β-1a SC thrice weekly (n = 4678). Furthermore, we assessed 2-year clinical outcomes in 1220 patients treated with interferon β-1a in either dosage (22 µg or 44 µg) as their first disease modifying agent, matched on propensity score calculated from pre-treatment demographic and clinical variables. A subgroup analysis was performed on 456 matched patients who also had baseline MRI variables recorded. RESULTS Overall, 4054 treatment discontinuations were recorded in 3059 patients. The patients receiving the lower interferon dosage were more likely to discontinue treatment than those with the higher dosage (25% vs. 20% annual probability of discontinuation, respectively). This was seen in discontinuations with reasons recorded as "lack of efficacy" (3.3% vs. 1.7%), "scheduled stop" (2.2% vs. 1.3%) or without the reason recorded (16.7% vs. 13.3% annual discontinuation rate, 22 µg vs. 44 µg dosage, respectively). Propensity score was determined by treating centre and disability (score without MRI parameters) or centre, sex and number of contrast-enhancing lesions (score including MRI parameters). No differences in clinical outcomes at two years (relapse rate, time relapse-free and disability) were observed between the matched patients treated with either of the interferon dosages. CONCLUSIONS Treatment discontinuations were more common in interferon β-1a 22 µg SC thrice weekly. However, 2-year clinical outcomes did not differ between patients receiving the different dosages, thus replicating in a registry dataset derived from "real-world" database the results of the pivotal randomised trial. Propensity score matching effectively minimised baseline covariate imbalance between two directly compared sub-populations from a large observational registry. This study was funded by MSBase Foundation, a not-for-profit organisation. The MSBase Foundation receives financial support from Merck Serono, Biogen Idec, Novartis Pharma, Bayer Schering and Sanofi Aventis. The study was also funded by Multiple Sclerosis Research Australia and MSAngels. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. Yes
Published: 2013

14. The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data

Author: Pm, Thompson, Jl, Stein, Se, Medland, Dp, Hibar, Aa, Vasquez, Me, Renteria, Toro R, Jahanshad N, Schumann G, Franke B, Mj, Wright, Ng, Martin, Agartz I, Alda M, Alhusaini S, Almasy L, Almeida J, Alpert K, Nc, Andreasen, Oa, Andreassen, Lg, Apostolova, Appel K, Nj, Armstrong, Aribisala B, Me, Bastin, Bauer M, Ce, Bearden, Bergmann O, Eb, Binder, Blangero J, Hj, Bockholt, Bøen E, Bois C, Di, Boomsma, Booth T, Ij, Bowman, Bralten J, Rm, Brouwer, Hg, Brunner, Dg, Brohawn, Rl, Buckner, Buitelaar J, Bulayeva K, Jr, Bustillo, Vd, Calhoun, Dm, Cannon, Rm, Cantor, Ma, Carless, Caseras X, Gl, Cavalleri, Mm, Chakravarty, Kd, Chang, Cr, Ching, Christoforou A, Cichon S, Vp, Clark, Conrod P, Coppola G, Crespo-Facorro B, Je, Curran, Czisch M, Ij, Deary, Ej, Geus, den Braber A, Delvecchio G, Depondt C, de Haan L, Gi, Zubicaray, Dima D, Dimitrova R, Djurovic S, Dong H, Donohoe G, Duggirala R, Td, Dyer, Ehrlich S, Cj, Ekman, Elvsåshagen T, Emsell L, Erk S, Espeseth T, Fagerness J, Fears S, Fedko I, Fernández G, Se, Fisher, Foroud T, Pt, Fox, Francks C, Frangou S, Em, Frey, Frodl T, Frouin V, Garavan H, Giddaluru S, Dc, Glahn, Godlewska B, Rz, Goldstein, Rl, Gollub, Hj, Grabe, Grimm O, Gruber O, Guadalupe T, Re, Gur, Rc, Gur, Hh, Göring, Hagenaars S, Hajek T, Gb, Hall, Hall J, Hardy J, Ca, Hartman, Hass J, Sn, Hatton, Uk, Haukvik, Hegenscheid K, Heinz A, Ib, Hickie, Bc, Ho, Hoehn D, Pj, Hoekstra, Hollinshead M, Aj, Holmes, Homuth G, Martine Hoogman, Le, Hong, Hosten N, Jj, Hottenga, He, Hulshoff Pol, Ks, Hwang, Cr, Jack Jr, Jenkinson M, Johnston C, Eg, Jönsson, Rs, Kahn, Kasperaviciute D, Kelly S, Kim S, Kochunov P, Koenders L, Krämer B, Jb, Kwok, Lagopoulos J, Laje G, Landen M, Ba, Landman, Lauriello J, Sm, Lawrie, Ph, Lee, Le Hellard S, Lemaître H, Cd, Leonardo, Cs, Li, Liberg B, Dc, Liewald, Liu X, Lm, Lopez, Loth E, Lourdusamy A, Luciano M, Macciardi F, Mw, Machielsen, Gm, Macqueen, Uf, Malt, Mandl R, Ds, Manoach, Jl, Martinot, Matarin M, Ka, Mather, Mattheisen M, Mattingsdal M, Meyer-Lindenberg A, McDonald C, Am, Mcintosh, Fj, Mcmahon, Kl, Mcmahon, Meisenzahl E, Melle I, Milaneschi Y, Mohnke S, Gw, Montgomery, Dw, Morris, Ek, Moses, Ba, Mueller, Muñoz Maniega S, Tw, Mühleisen, Müller-Myhsok B, Mwangi B, Nauck M, Nho K, Te, Nichols, Lg, Nilsson, Ac, Nugent, Nyberg L, Rl, Olvera, Oosterlaan J, Ra, Ophoff, Pandolfo M, Papalampropoulou-Tsiridou M, Papmeyer M, Paus T, Pausova Z, Gd, Pearlson, Bw, Penninx, Cp, Peterson, Pfennig A, Phillips M, Gb, Pike, Jb, Poline, Sg, Potkin, Pütz B, Ramasamy A, Rasmussen J, Rietschel M, Rijpkema M, Sl, Risacher, Jl, Roffman, Roiz-Santiañez R, Romanczuk-Seiferth N, Ej, Rose, Na, Royle, Rujescu D, Ryten M, Ps, Sachdev, Salami A, Td, Satterthwaite, Savitz J, Aj, Saykin, Scanlon C, Schmaal L, Hg, Schnack, Aj, Schork, Sc, Schulz, Schür R, Seidman L, Shen L, Jm, Shoemaker, Simmons A, Sm, Sisodiya, Smith C, Jw, Smoller, Jc, Soares, Sr, Sponheim, Sprooten E, Jm, Starr, Vm, Steen, Strakowski S, Strike L, Sussmann J, Pg, Sämann, Teumer A, Aw, Toga, Tordesillas-Gutierrez D, Trabzuni D, Trost S, Turner J, Van den Heuvel M, Nj, Wee, van Eijk K, Tg, Erp, Ne, Haren, van 't Ent D, Mj, Tol, Mc, Valdés Hernández, Dj, Veltman, Versace A, Völzke H, Walker R, Walter H, Wang L, Jm, Wardlaw, Me, Weale, Mw, Weiner, Wen W, Lt, Westlye, Hc, Whalley, Cd, Whelan, White T, Am, Winkler, Wittfeld K, Woldehawariat G, Wolf C, Zilles D, Mp, Zwiers, Thalamuthu A, Pr, Schofield, Nb, Freimer, Ns, Lawrence, Drevets W, The Alzheimer’s Disease Neuroimaging Initiative, Epigen Consortium, Laboratory of Neuro Imaging [Los Angeles] (LONI), University of California [Los Angeles] (UCLA), University of California-University of California, David Geffen School of Medicine [Los Angeles], Medstar Research Institute, Keck School of Medicine [Los Angeles], University of Southern California (USC), Génétique Humaine et Fonctions Cognitives, Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), Institute of Psychiatry, Psychology & Neuroscience, King's College London, King‘s College London, Department of Psychiatry, Donders Centre for Neuroscience, Radboud university [Nijmegen]-Radboud University Medical Center [Nijmegen]-Radboud university [Nijmegen]-Radboud University Medical Center [Nijmegen], Genetic Epidemiology Lab [Brisbane], Queensland Institute of Medical Research, Universidad Complutense de Madrid = Complutense University of Madrid [Madrid] (UCM), KG Jebsen Centre for Psychosis Research, University of Oslo (UiO)-Institute of Clinical Medicine-Oslo University Hospital [Oslo], Dalhousie University [Halifax], Molecular and Cellular Therapeutics, Royal College of Surgeons in Ireland (RCSI), Department of Genetics, Southwest Foundation for Biomedical Research, Departamento de Matemática Pura, Faculdade de Ciências (UNIVERSIDADE DO PORTO), Universidade do Porto = University of Porto, Department of Psychiatry and Psychotherapy, University of Edinburgh, Center for Sepsis Control & Care, Jena University Hospital, Division Genetic Epidemiology in Psychiatry, Central Institute of Mental Health [Mannheim], Medical Faculty [Mannheim]-Medical Faculty [Mannheim], Texas Biomedical Research Institute [San Antonio, TX], Donders Institute for Brain, Cognition and Behaviour, Radboud university [Nijmegen], Brain Center Rudolf Magnus, Department of Psychiatry, UMC Utrecht, Utrecht 3584 CX, The Netherlands, Radboud University Medical Center [Nijmegen], Department of Psychiatry [Boston], Massachusetts General Hospital [Boston], Karakter Child and Adolescent Psychiatry University Centre [Nijmegen], N.I. Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow 119333, Russia, Human Genetics Branch, National Institutes of Health [Bethesda] (NIH)-National Institute of Mental Health (NIMH), Department of Genomics, Douglas Mental Health University Institute, McGill University = Université McGill [Montréal, Canada], sans affiliation, Università degli Studi di Salermo, Università degli Studi di Salerno (UNISA), Centro de Investigación Biomédica en Red Salud Mental [Madrid] (CIBER-SAM), Bijvoet Center of Biomolecular Research [Utrecht], Utrecht University [Utrecht], Biological Psychology, Neuroscience Campus Amsterdam & EMGO Institute for Health and Care Research, VU University & VU Medical Center, Amsterdam 1081 BT, The Netherlands, Department of Neurology, Hôpital Erasme [Bruxelles] (ULB), Faculté de Médecine [Bruxelles] (ULB), Université libre de Bruxelles (ULB)-Université libre de Bruxelles (ULB)-Faculté de Médecine [Bruxelles] (ULB), Université libre de Bruxelles (ULB)-Université libre de Bruxelles (ULB), Department of Psychiatry [Pittsburgh], University of Pittsburgh School of Medicine, Pennsylvania Commonwealth System of Higher Education (PCSHE)-Pennsylvania Commonwealth System of Higher Education (PCSHE), School of Psychology, University of Queensland, University of Queensland [Brisbane], Department of Hematology, 'Ion Chiricuta' Cancer Institute, University of Oslo (UiO), The University of Texas Health Science Center at Houston (UTHealth), MetaGenoPolis, Institut National de la Recherche Agronomique (INRA), Department of Psychiatry, Division of Medical Psychology, Champalimaud Neuroscience Programme, Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indiana University System-Indiana University System, Language and Genetics Department [Nijmegen], Max Planck Institute for Psycholinguistics, Max-Planck-Gesellschaft-Max-Planck-Gesellschaft, Icahn School of Medicine at Mount Sinai [New York] (MSSM), Division of Hemato-Oncology, Saint Anna Children's Hospital [Vienne] = St Anna Kinderspital (St. Anna Children's Hospital), Psychiatry and Psychotherapy, Service NEUROSPIN (NEUROSPIN), Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), University of Vermont [Burlington], Haukeland University Hospital, University of Bergen (UiB), Dpt of Psychiatry [New Haven], Yale School of Medicine [New Haven, Connecticut] (YSM), Laboratory of Molecular Neuropsychiatry, Athinoula A. Martinos Center for Biomedical Imaging, Harvard Medical School [Boston] (HMS)-Massachusetts General Hospital [Boston], HELIOS Klinikum Stralsund Hanseatic-Greifswald University Hospital, Department of Geriatric Psychiatry, Central Institute of Mental Health, Medical Faculty Mannheim, Universität Heidelberg [Heidelberg], International Max Planck Research School for Language Sciences (IMPRS ), Lancaster University, Georgia Institute of Technology [Atlanta], Greifswald University Hospital, Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], Clinical Research Unit, Brain & Mind Research Institute-The University of Sydney, Department of Psychiatry, University of Iowa, University of Iowa [Iowa City], Max Planck Institute of Psychiatry, Max-Planck-Gesellschaft, University Medical Center Groningen [Groningen] (UMCG), Interfaculty Institute for Genetics and Functional Genomics, Universität Greifswald - University of Greifswald, Mental Health Sciences Unit, University College of London [London] (UCL), University Medical Center [Utrecht], Department of Radiology [Rochester], Mayo Clinic [Rochester], Department of Clinical Neurology [Oxford], University of Oxford [Oxford]-FMRIB Centre- John Radcliffe Hospital [Oxford University Hospital], Centre for the Cellular Basis of Behavior, Bureau d'Économie Théorique et Appliquée (BETA), Institut National de la Recherche Agronomique (INRA)-Université de Strasbourg (UNISTRA)-Université de Lorraine (UL)-Centre National de la Recherche Scientifique (CNRS), Department of Medicine, Imperial College London, MetaCase [Jyväskylä], Structure et Réactivité des Systèmes Moléculaires Complexes (SRSMC), Institut de Chimie du CNRS (INC)-Université de Lorraine (UL)-Centre National de la Recherche Scientifique (CNRS), University of Maryland [Baltimore County] (UMBC), University of Maryland System-University of Maryland System-University of Maryland School of Medicine, University of Maryland System, Sahlgrenska Academy at University of Gothenburg [Göteborg], Broad Institute of MIT and Harvard (BROAD INSTITUTE), Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston], Université de Cergy Pontoise (UCP), Université Paris-Seine, National Institutes of Health [Bethesda] (NIH), Department of Forensic and Neurodevelopmental Sciences, University of California [Irvine] (UCI), University of California, Neuroimagerie en psychiatrie (U1000), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Clinical And Experimental Epilepsy, Centre for Healthy Brain Ageing, School of Psychiatry, Faculty of Medicine, University of New South Wales, Sydney, Australia, Department of Life Sciences, Mathematical Sciences Institute (MSI), Australian National University (ANU), Centre for Advanced Imaging, Division of Mental Health and Addiction, Oslo University Hospital [Oslo], VU University Medical Center [Amsterdam], Metacohorts Consortium, Translational Centre for Regenerative Medicine (TRM), Department of Cell Therapy, Universität Leipzig [Leipzig]-Universität Leipzig [Leipzig], Institute of Clinical Chemistry and Laboratory Medicine, Indiana Alzheimer Disease Center, Department of Statistics [Warwick], University of Warwick [Coventry], Department of Health Science, Division of Health and Rehabilitation, Luleå University of Technology (LUT), University Medical Center [Utrecht]-Brain Center Rudolf Magnus, McConnell Brain Imaging Centre (MNI), Montreal Neurological Institute and Hospital, McGill University = Université McGill [Montréal, Canada]-McGill University = Université McGill [Montréal, Canada], Departments of Physiology and Nutritional Sciences, University of Toronto, Toronto, Canada, Technische Universität Dresden = Dresden University of Technology (TU Dresden), Modelling brain structure, function and variability based on high-field MRI data (PARIETAL), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Inria Saclay - Ile de France, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria), Statistical Genetics Group, Respiratory Epidemiology and Public Health, Imperial College London-School of public health, The University of Hong Kong (HKU)-The University of Hong Kong (HKU)-MRC-HPA Centre for Environment and Health, Donders Center for Cognitive Neuroimaging, Donders Centre for Cognitive Neuroimaging, Radboud university [Nijmegen]-Radboud university [Nijmegen], Institut Parisien de Chimie Moléculaire (IPCM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), Centre for Healthy Brain Ageing, University of New South Wales [Sydney] (UNSW), Umeå Centre for Functional Brain Imaging (UFBI), Umeå University, Umeå 901 87, Sweden, University of Pennsylvania [Philadelphia], Department of Cognitive Sciences [San Diego], University of California [San Diego] (UC San Diego), Indiana University System, Natbrainlab, Department of Forensic and Neurodevelopmental Sciences, Institute of psychiatry-King‘s College London, Institute of Neurology [London], Laboratoire des symbioses tropicales et méditerranéennes (UMR LSTM), Centre de Coopération Internationale en Recherche Agronomique pour le Développement (Cirad)-Université Montpellier 1 (UM1)-Institut de Recherche pour le Développement (IRD)-Institut National de la Recherche Agronomique (INRA)-Université Montpellier 2 - Sciences et Techniques (UM2)-Université de Montpellier (UM)-Institut national d’études supérieures agronomiques de Montpellier (Montpellier SupAgro), Stanley Center for Psychiatric Research, Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston]-Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston], King Faisal Specialist Hospital and Research Centre, Georgia State University, University System of Georgia (USG), Department of Psychiatry and Human Behavior [Irvine], Leiden University Medical Center (LUMC), Institute for Community Medicine, School of Music and Music Education (UNSW), Science & Technology Information Institute, Shandong Academy of Agricultural Science, University of California [San Francisco] (UCSF), Department of Physics [Hong Kong University of Science and Technology], Hong Kong University of Science and Technology (HKUST), Department of Psychology [Oslo], Faculty of Social Sciences [Oslo], University of Oslo (UiO)-University of Oslo (UiO), Research Laboratory for Archaeology & the History of Art, German Research Center for Neurodegenerative Diseases - Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE), Dundee Technopole, CXR Biosciences Ltd, Georg-August-University [Göttingen], Centre for Healthy Brain Ageing, School of Psychiatry, University of New South Wales, Sydney 2052, Australia, Prince of Wales Medical Research Institute, Center for Neurobehavioral Genetics, Wales Institute of Cognitive Neuroscience, Cardiff University, Complutense University of Madrid (UCM), Universidade do Porto [Porto], Texas Biomedical Research Institute [San Antonio, Texas], Karakter Child and Adolescent Psychiatry University Centre, McGill University, Bijvoet Center of Biomolecular Research, Université Libre de Bruxelles [Bruxelles] (ULB)-Hôpital Erasme (Bruxelles), St. Anna Children's Hospital, Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay, University of Bergen (UIB), Yale University School of Medicine, Massachusetts General Hospital [Boston]-Harvard Medical School [Boston] (HMS), Charité - Universitätsmedizin Berlin / Charite - University Medicine Berlin, Université de Lorraine (UL)-Centre National de la Recherche Scientifique (CNRS), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Sud - Paris 11 (UP11), McGill University-McGill University, Technische Universität Dresden (TUD), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Inria Saclay - Ile de France, Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC), Department of Physics [Kowloon], University of California (UC)-University of California (UC), QIMR Berghofer Medical Research Institute, Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Department of Clinical Neurosciences, Neurology Division, Karolinska Institutet, Karolinska University Hospital [Stockholm], Pennsylvania Commonwealth System of Higher Education (PCSHE), Northwestern University [Chicago, Ill. USA], Norwegian Centre for Mental Disorders Research [Oslo] (NORMENT), University of Oslo (UiO)-Haukeland University Hospital, University of Bergen (UiB)-University of Bergen (UiB)-Oslo University Hospital [Oslo], Ernst-Moritz-Arndt-Universität Greifswald, School of Mathematics and Statistics, Brain Research Imaging Centre, Imaging Sciences, University Hospital Carl Gustav Carus [Dresden, Germany], Semel Institute for Neuroscience and Human Behavior [Los Angeles, Ca], Institute of Clinical Medicine [Oslo], Faculty of Medicine [Oslo], Royal Hospital for Sick Children [Edinburgh], Department of General Practice/EMGO Institute, Centre for Cognitive Ageing and Cognitive Epidemiology (CCACE), University of Edinburgh-Medical Research Council (MRC), Radboud University [Nijmegen], Brain Centre Rudolf Magnus [Utrecht], Department of Human Genetics [Nijmegen], Psychiatric and Neurodevelopmental Genetics Unit, Harvard University, Russian Academy of Sciences [Moscow] (RAS), The University of New Mexico [Albuquerque], The Mind Research Network, Department of Electrical and Computer Engineering [Albuquerque] (ECE Department), National University of Ireland [Galway] (NUI Galway), University of California (UC), Institute of Psychological Medicine and Clinical Neurosciences, Centre for Addiction and Mental Health [Toronto] (CAMH), Institute of Biomaterials and Biomedical Engineering [Toronto, ON, Canada] (IBBME), University of Toronto, Stanford School of Medicine [Stanford], Stanford Medicine, Stanford University-Stanford University, Universität Bonn = University of Bonn, Jülich Research Centre, University of Basel (Unibas), Centre de recherche du CHU Sainte-Justine / Research Center of the Sainte-Justine University Hospital [Montreal, Canada], Université de Montréal (UdeM)-CHU Sainte Justine [Montréal], Fundación Marqués de Valdecilla-Instituto de Formación e Investigación Marqués de Valdecilla (IFIMAV), Centre for Cognitive Ageing and Cognitive Epidemiology, Trinity College Dublin, Department of Psychiatry Massachusetts General Hospital (MGH), South Texas Veterans Health Care System, San Antonio, Texas 78229, USA, University Hospital Regensburg, Hartford Hospital, University of Oxford, HELIOS Klinikum Stralsund Hanseatic, University of Heidelberg, Medical Faculty, Georg-August-University = Georg-August-Universität Göttingen, University of Pennsylvania, McMaster University [Hamilton, Ontario], UCL, Institute of Neurology [London], Brain and Mind Research Institute, University of Technology Sydney (UTS), Diakonhjemmet Hospital, University of Maryland School of Medicine, Oakland University, University of Rochester School of Medicine, Oxford Centre for Functional Magnetic Resonance Imaging of the Brain (FMRIB), South London and Maudsley NHS Foundation Trust, Institute for Molecular Medicine Finland [Helsinki] (FIMM), Helsinki Institute of Life Science (HiLIFE), Helsingin yliopisto = Helsingfors universitet = University of Helsinki-Helsingin yliopisto = Helsingfors universitet = University of Helsinki, University of Maryland [Baltimore], Neuroscience Research Australia (NeuRA), University of Gothenburg (GU), Karolinska Institutet [Stockholm], Vanderbilt University [Nashville], University of Missouri [Columbia] (Mizzou), University of Missouri System, Service Hospitalier Frédéric Joliot (SHFJ), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Clinatec - Centre de recherche biomédicale Edmond J.Safra (SCLIN), Commissariat à l'énergie atomique et aux énergies alternatives - Laboratoire d'Electronique et de Technologie de l'Information (CEA-LETI), Direction de Recherche Technologique (CEA) (DRT (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Direction de Recherche Technologique (CEA) (DRT (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Joseph Fourier - Grenoble 1 (UJF)-Centre Hospitalier Universitaire [Grenoble] (CHU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Department of Neuroscience, Yale University School of Medicine, Columbia University Medical Center (CUMC), Columbia University [New York], University of Nottingham, UK (UON), University of California [Irvine] (UC Irvine), Università degli Studi di Milano = University of Milan (UNIMI), Hotchkiss Brain Institute, University of Calgary, Oslo and Akershus University College of Applied Sciences [Oslo] (HiOA), Centre for Healthy Brain Ageing (CHeBA), School of Psychiatry, UNSW Medicine, University of New South Wales, Sydney, Aarhus University [Aarhus], Sorlandet Hospital HF, University Hospital Mannheim | Universitätsmedizin Mannheim, Centre for Advanced Imaging [Brisbane] (CAI), Ludwig Maximilian University [Munich] (LMU), Translational Gerontology Branch, National Institute on Aging, National Institutes of Health, The University of Western Australia (UWA), University of Minnesota [Morris], University of Minnesota System, Munich Cluster for systems neurology [Munich] (SyNergy), Technische Universität Munchen - Université Technique de Munich [Munich, Allemagne] (TUM)-Ludwig-Maximilians-Universität München (LMU), The University of Texas Medical School at Houston, Indiana State University, Stockholm Brain Institute [Stockholm, Sweden], Stockholm University, Umeå University, University of Texas Health Science Center, Department of Clinical Neuropsychology, University of Amsterdam [Amsterdam] (UvA), Rotman Research Institute at the Baycrest Centre (RRI), The Hospital for sick children [Toronto] (SickKids), University of Pittsburgh (PITT), University of California [Berkeley] (UC Berkeley), King's College, Reta Lila Weston Institute, UCL Institute of Neurology, Department of Molecular Neuroscience, University College of London [London] (UCL)-Institute of Neurology, University of Cantabria, Santander, Research Triangle Institute International (RTI International), Martin-Luther-Universität Halle Wittenberg (MLU), Prince of Wales Hospital, Karolinska Institute, Laureate institute for brain research, Tulsa, University of Tulsa, Department of Cognitive Sciences [Univ California San Diego] (CogSci - UC San Diego), University of Minnesota Medical School, Beth Israel Deaconess Medical Center [Boston] (BIDMC), Harvard Medical School [Boston] (HMS), Maudsley NHS Foundation Trust and Institute of Psychiatry, NIHR Biomedical Research Centre [London], Guy's and St Thomas' NHS Foundation Trust-King‘s College London, Edinburgh Dementia Prevention & Centre for Clinical Brain Sciences, Center for Human Genetic Research, VA NY Harbor Health Care System, Alzheimer Scotland Dementia Research Centre, Department of Psychiatry and Behavioral Neuroscience [UC, Cincinnati], University of Cincinnati (UC), University of Cincinnati College of Medicine, Marqués de Valdecilla University Hospital [Santander], King Faisal Specialist Hospital and Resarch Centre [Riyadh, Saudi Arabia] (KFSHRC), Psychiatry and Leiden Institute for Brain and Cognition, Universiteit Leiden-Universiteit Leiden, Universiteit Leiden, Department of Biological Psychology [Amsterdam], Vrije Universiteit Amsterdam [Amsterdam] (VU), The Centre for Regenerative Medicine, Berlin School of Mind and Brain [Berlin], Humboldt University Of Berlin, University of California [San Francisco] (UC San Francisco), School of Chemistry, University of Edinburgh, Department of Public Health, Erasmus University Medical Centre, Rotterdam, Erasmus University Medical Centre, Rotterdam, Department of Psychiatry and Biobehavioral Sciences, University of Exeter, Janssen Research & Development, A complete listing of ADNI investigators is available at http://adni.loni.usc.edu/wp-content/uploads/how_to_apply/ADNI_Acknowledgement_List.pdf The work reviewed here was funded by a large number of federal and private agencies worldwide, listed in Stein et al. (2012), the funding for listed consortia is also itemized in Stein et al. (2012)., Medical Oncology, Epidemiology, Clinical Chemistry, Cardiology, Neurosciences, Child and Adolescent Psychiatry / Psychology, Radboud University Medical Center [Nijmegen]-Radboud university [Nijmegen]-Radboud University Medical Center [Nijmegen]-Radboud university [Nijmegen], Universidade do Porto, FMRIB Centre- John Radcliffe Hospital [Oxford University Hospital]-University of Oxford [Oxford], Université de Lorraine (UL)-Université de Strasbourg (UNISTRA)-Institut National de la Recherche Agronomique (INRA)-Centre National de la Recherche Scientifique (CNRS), Université de Lorraine (UL)-Centre National de la Recherche Scientifique (CNRS)-Institut de Chimie du CNRS (INC), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Sud - Paris 11 (UP11), Inria Saclay - Ile de France, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-Service NEUROSPIN (NEUROSPIN), Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro), Massachusetts Institute of Technology. Department of Brain and Cognitive Sciences, Smoller, Jordan, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Centre Hospitalier Universitaire [Grenoble] (CHU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), ANS - Amsterdam Neuroscience, Adult Psychiatry, Other departments, University of Oxford [Oxford]- John Radcliffe Hospital [Oxford University Hospital]-FMRIB Centre, and Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)
Subjects: endocrine system, Multi-site, Cognitive Neuroscience, [SDV]Life Sciences [q-bio], body-mass index, Clinical Neurology, multivariate parallel ica, Neuroimaging, methods [Genome-Wide Association Study], human brain structure, methods [Brain Mapping], Behavioral Neuroscience, Cellular and Molecular Neuroscience, ddc:150, Meta-Analysis as Topic, cortical surface-area, Genetics, voxel-based morphometry, GWAS, Humans, Cooperative Behavior, disease risk variant, Brain Mapping, MRI, Consortium, Meta-analysis, white-matter microstructure, SI: Genetic Neuroimaging in Aging and Age-Related Diseases, Psychiatry and Mental health, Neurology, Radiology Nuclear Medicine and imaging, quantitative trait loci, RC0321, genome-wide association, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], tensor-based morphometry, methods [Neuroimaging], Genome-Wide Association Study
Abstract: The Enhancing NeuroImaging Genetics through Meta-Analysis (ENIGMA) Consortium is a collaborative network of researchers working together on a range of large-scale studies that integrate data from 70 institutions worldwide. Organized into Working Groups that tackle questions in neuroscience, genetics, and medicine, ENIGMA studies have analyzed neuroimaging data from over 12,826 subjects. In addition, data from 12,171 individuals were provided by the CHARGE consortium for replication of findings, in a total of 24,997 subjects. By meta-analyzing results from many sites, ENIGMA has detected factors that affect the brain that no individual site could detect on its own, and that require larger numbers of subjects than any individual neuroimaging study has currently collected. ENIGMA’s first project was a genome-wide association study identifying common variants in the genome associated with hippocampal volume or intracranial volume. Continuing work is exploring genetic associations with subcortical volumes (ENIGMA2) and white matter microstructure (ENIGMA-DTI). Working groups also focus on understanding how schizophrenia, bipolar illness, major depression and attention deficit/hyperactivity disorder (ADHD) affect the brain. We review the current progress of the ENIGMA Consortium, along with challenges and unexpected discoveries made on the way. This article is distributed under the terms of the Creative Commons Attribution License which permits any use, distribution, and reproduction in any medium, provided the original author(s) and the source are credited.

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14 results on '"Brain and Mind Research Institute"'

1. Fourth European stroke science workshop

2. Geometry of spiking patterns in early visual cortex: a topological data analytic approach

3. Caractérisation clinique et génétique d’une nouvelle dysplasie ectodermique en mosaïque

4. THN 102 for excessive daytime sleepiness associated with Parkinson's disease: a phase 2a trial

5. Goldfish Response to Chronic Hypoxia: Mitochondrial Respiration, Fuel Preference and Energy Metabolism

6. Isolation of human fibroadipogenic progenitors and satellite cells from frozen muscle biopsies

7. Utility of Computed Tomography to Predict Ventricular Arrhythmias in Patients With Nonischemic Cardiomyopathy Receiving Cardiac Resynchronization Therapy

8. Clinical and advanced neurophysiology in the prognostic and diagnostic evaluation of disorders of consciousness: review of an IFCN-endorsed expert group

9. miR-9 Controls the Timing of Neurogenesis through the Direct Inhibition of Antagonistic Factors

10. Targeting α-synuclein for treatment of Parkinson's disease: mechanistic and therapeutic considerations

11. Long-range evolutionary constraints reveal cis-regulatory interactions on the human X chromosome

12. Chemical genetics unveils a key role of mitochondrial dynamics, cytochrome c release and IP3R activity in muscular dystrophy

13. Persistence on therapy and propensity matched outcome comparison of two subcutaneous interferon beta 1a dosages for multiple sclerosis

14. The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data

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