8,591 results match your criteria Medical Informatics in Neurology


Meta-analysis of epigenome-wide association studies in neonates reveals widespread differential DNA methylation associated with birthweight.

Authors:
Leanne K Küpers Claire Monnereau Gemma C Sharp Paul Yousefi Lucas A Salas Akram Ghantous Christian M Page Sarah E Reese Allen J Wilcox Darina Czamara Anne P Starling Alexei Novoloaca Samantha Lent Ritu Roy Cathrine Hoyo Carrie V Breton Catherine Allard Allan C Just Kelly M Bakulski John W Holloway Todd M Everson Cheng-Jian Xu Rae-Chi Huang Diana A van der Plaat Matthias Wielscher Simon Kebede Merid Vilhelmina Ullemar Faisal I Rezwan Jari Lahti Jenny van Dongen Sabine A S Langie Tom G Richardson Maria C Magnus Ellen A Nohr Zongli Xu Liesbeth Duijts Shanshan Zhao Weiming Zhang Michelle Plusquin Dawn L DeMeo Olivia Solomon Joosje H Heimovaara Dereje D Jima Lu Gao Mariona Bustamante Patrice Perron Robert O Wright Irva Hertz-Picciotto Hongmei Zhang Margaret R Karagas Ulrike Gehring Carmen J Marsit Lawrence J Beilin Judith M Vonk Marjo-Riitta Jarvelin Anna Bergström Anne K Örtqvist Susan Ewart Pia M Villa Sophie E Moore Gonneke Willemsen Arnout R L Standaert Siri E Håberg Thorkild I A Sørensen Jack A Taylor Katri Räikkönen Ivana V Yang Katerina Kechris Tim S Nawrot Matt J Silver Yun Yun Gong Lorenzo Richiardi Manolis Kogevinas Augusto A Litonjua Brenda Eskenazi Karen Huen Hamdi Mbarek Rachel L Maguire Terence Dwyer Martine Vrijheid Luigi Bouchard Andrea A Baccarelli Lisa A Croen Wilfried Karmaus Denise Anderson Maaike de Vries Sylvain Sebert Juha Kere Robert Karlsson Syed Hasan Arshad Esa Hämäläinen Michael N Routledge Dorret I Boomsma Andrew P Feinberg Craig J Newschaffer Eva Govarts Matthieu Moisse M Daniele Fallin Erik Melén Andrew M Prentice Eero Kajantie Catarina Almqvist Emily Oken Dana Dabelea H Marike Boezen Phillip E Melton Rosalind J Wright Gerard H Koppelman Letizia Trevisi Marie-France Hivert Jordi Sunyer Monica C Munthe-Kaas Susan K Murphy Eva Corpeleijn Joseph Wiemels Nina Holland Zdenko Herceg Elisabeth B Binder George Davey Smith Vincent W V Jaddoe Rolv T Lie Wenche Nystad Stephanie J London Debbie A Lawlor Caroline L Relton Harold Snieder Janine F Felix

Nat Commun 2019 Apr 23;10(1):1893. Epub 2019 Apr 23.

The Generation R Study Group, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.

Birthweight is associated with health outcomes across the life course, DNA methylation may be an underlying mechanism. In this meta-analysis of epigenome-wide association studies of 8,825 neonates from 24 birth cohorts in the Pregnancy And Childhood Epigenetics Consortium, we find that DNA methylation in neonatal blood is associated with birthweight at 914 sites, with a difference in birthweight ranging from -183 to 178 grams per 10% increase in methylation (P < 1.06 x 10). Read More

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http://dx.doi.org/10.1038/s41467-019-09671-3DOI Listing

Brain Imaging of the Cortex in ADHD: A Coordinated Analysis of Large-Scale Clinical and Population-Based Samples.

Authors:
Martine Hoogman Ryan Muetzel Joao P Guimaraes Elena Shumskaya Maarten Mennes Marcel P Zwiers Neda Jahanshad Gustavo Sudre Thomas Wolfers Eric A Earl Juan Carlos Soliva Vila Yolanda Vives-Gilabert Sabin Khadka Stephanie E Novotny Catharina A Hartman Dirk J Heslenfeld Lizanne J S Schweren Sara Ambrosino Bob Oranje Patrick de Zeeuw Tiffany M Chaim-Avancini Pedro G P Rosa Marcus V Zanetti Charles B Malpas Gregor Kohls Georg G von Polier Jochen Seitz Joseph Biederman Alysa E Doyle Anders M Dale Theo G M van Erp Jeffery N Epstein Terry L Jernigan Ramona Baur-Streubel Georg C Ziegler Kathrin C Zierhut Anouk Schrantee Marie F Høvik Astri J Lundervold Clare Kelly Hazel McCarthy Norbert Skokauskas Ruth L O'Gorman Tuura Anna Calvo Sara Lera-Miguel Rosa Nicolau Kaylita C Chantiluke Anastasia Christakou Alasdair Vance Mara Cercignani Matt C Gabel Philip Asherson Sarah Baumeister Daniel Brandeis Sarah Hohmann Ivanei E Bramati Fernanda Tovar-Moll Andreas J Fallgatter Bernd Kardatzki Lena Schwarz Anatoly Anikin Alexandr Baranov Tinatin Gogberashvili Dmitry Kapilushniy Anastasia Solovieva Hanan El Marroun Tonya White Georgii Karkashadze Leyla Namazova-Baranova Thomas Ethofer Paulo Mattos Tobias Banaschewski David Coghill Kerstin J Plessen Jonna Kuntsi Mitul A Mehta Yannis Paloyelis Neil A Harrison Mark A Bellgrove Tim J Silk Ana I Cubillo Katya Rubia Luisa Lazaro Silvia Brem Susanne Walitza Thomas Frodl Mariam Zentis Francisco X Castellanos Yuliya N Yoncheva Jan Haavik Liesbeth Reneman Annette Conzelmann Klaus-Peter Lesch Paul Pauli Andreas Reif Leanne Tamm Kerstin Konrad Eileen Oberwelland Weiss Geraldo F Busatto Mario R Louza Sarah Durston Pieter J Hoekstra Jaap Oosterlaan Michael C Stevens J Antoni Ramos-Quiroga Oscar Vilarroya Damien A Fair Joel T Nigg Paul M Thompson Jan K Buitelaar Stephen V Faraone Philip Shaw Henning Tiemeier Janita Bralten Barbara Franke

Am J Psychiatry 2019 Apr 24:appiajp201918091033. Epub 2019 Apr 24.

The Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands (Hoogman, Guimaraes, Shumskaya, Wolfers, Bralten, Franke); the Donders Institute for Brain, Cognition, and Behavior, Radboud University, Nijmegen, the Netherlands (Hoogman, Shumskaya, Mennes, Wolfers, Buitelaar, Bralten, Franke); the Department of Child and Adolescent Psychiatry, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands (Muetzel, El Marroun, White, Tiemeier); the Department of Epidemiology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands (Muetzel); the Department of Cognitive Neuroscience, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, the Netherlands (Guimaraes, Zwiers, Buitelaar); the Imaging Genetics Center, Stevens Neuroimaging and Informatics Institute, Keck School of Medicine of USC, Marina del Rey, Calif. (Jahanshad, Thompson); National Human Genome Research Institute, Bethesda, Md. (Sudre, Shaw); the Department of Behavioral Neuroscience, Oregon Health and Science University, Portland (Earl, Fair, Nigg); the Department of Psychiatry and Forensic Medicine, Autonomous University of Barcelona, Cerdanyola del Vallès, Spain (Soliva Vila, Ramos-Quiroga, Vilarroya); Instituto ITACA, Polytechnic University of Valencia, Valencia, Spain (Vives-Gilabert); the Olin Neuropsychiatry Research Center, Hartford Hospital, Hartford, Conn. (Khadka, Novotny, Stevens); University of Groningen, University Medical Center Groningen (UMCG), Department of Psychiatry, Interdisciplinary Center Psychopathology and Emotion Regulation (ICPE), Groningen, the Netherlands (Hartman, Schweren); Faculty of Behavioral and Movement Sciences, Vrije Universiteit Amsterdam, Amsterdam (Heslenfeld); the Department of Child and Adolescent Psychiatry, University of Groningen, University Medical Center Groningen, the Netherlands (Hoekstra); NICHE Lab, Department of Psychiatry, UMC Utrecht Brain Center, Utrecht, the Netherlands (Ambrosino, Oranje, de Zeeuw, Durston); Laboratory of Psychiatric Neuroimaging (LIM-21), Department and Institute of Psychiatry, Faculty of Medicine, University of São Paulo, São Paulo, Brazil (Chaim-Avancini, Rosa, Zanetti, Busatto); the Center for Interdisciplinary Research on Applied Neurosciences (NAPNA), University of São Paulo, São Paulo, Brazil (Chaim-Avancini, Rosa, Zanetti, Busatto); the Developmental Imaging Group, Murdoch Children's Research Institute, Melbourne, Australia (Malpas); the Clinical Outcomes Research Unit (CORe), Department of Medicine, Royal Melbourne Hospital, University of Melbourne, Melbourne, Australia (Malpas); the Melbourne School of Psychological Sciences, University of Melbourne, Melbourne, Australia (Malpas); the Child Neuropsychology Section, University Hospital RWTH Aachen, Aachen, Germany (Kohls, Konrad; Child and Adolescent Psychiatry, University Hospital RWTH Aachen, Aachen, Germany (Polier, Seitz); Institute of Neuroscience and Medicine-Brain and Behavior (INM-7), Research Center Jülich, Jülich, Germany (Polier); the Clinical and Research Programs in Pediatric Psychopharmacology and Adult ADHD, Department of Psychiatry, Massachusetts General Hospital, Boston (Biederman); the Department of Psychiatry, Massachusetts General Hospital, Harvard Medical School, Boston (Biederman, Doyle); the Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston (Doyle); the Departments of Neurosciences, Radiology, and Psychiatry and the Center for Multimodal Imaging and Genetics, University of California San Diego (Dale); the Clinical and Translational Neuroscience Laboratory, Department of Psychiatry and Human Behavior, University of California Irvine, Irvine (van Erp); the Division of Behavioral Medicine and Clinical Psychology, Cincinnati Children's Hospital Medical Center, and the Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati (Epstein, Tamm); the Center for Human Development, University of California San Diego, San Diego (Jernigan); the Division of Molecular Psychiatry, Center of Mental Health, University of Würzburg, Würzburg, Germany (Ziegler, Lesch); the Department of Radiology and Nuclear Medicine, Amsterdam University Medical Centers, Amsterdam (Schrantee, Reneman); the Department of Clinical Medicine, University of Bergen, Bergen, Norway (Høvik); the Division of Psychiatry, Haukeland University Hospital, Bergen, Norway (Høvik, Haavik); the Department of Biological and Medical Psychology, University of Bergen, Bergen, Norway (Lundervold); the K.G. Jebsen Center for Neuropsychiatric Disorders, Department of Biomedicine, University of Bergen, Bergen, Norway (Lundervold, Haavik); the School of Psychology and the Department of Psychiatry, School of Medicine, and the Trinity College Institute of Neuroscience, Trinity College Dublin, Ireland (Kelly); the Department of Child and Adolescent Psychiatry, NYU Langone Medical Center, New York (Kelly, Castellanos, Yoncheva); the Department of Psychiatry, Trinity College Dublin, Ireland (McCarthy, Skokauskas, Frodl); the Centre for Advanced Medical Imaging, St. James's Hospital, Dublin, Ireland (McCarthy); the Center for Child and Adolescent Mental Health, NTNU, Norway, Norwegian University of Science and Technology, Norway (Skokauskas); the Center for MR Research, University Children's Hospital, and the Zurich Center for Integrative Human Physiology, Zurich (O'Gorman Tuura); Magnetic Resonance Image Core Facility, August Pi i Sunyer Biomedical Research Institute (IDIBAPS), Barcelona, Spain (Calvo, Lazaro); the Department of Child and Adolescent Psychiatry and Psychology, Institute of Neurosciences, Hospital Clinic, Barcelona, Spain (Lera-Miguel, Nicolau, Lazaro); the Department of Child and Adolescent Psychiatry, Institute of Psychiatry, Psychology, and Neuroscience, King's College London (Chantiluke, Christakou, Cubillo, Rubia); the School of Psychology and Clinical Language Sciences, Centre for Integrative Neuroscience and Neurodynamics, University of Reading, Reading, U.K. (Christakou); the Department of Paediatrics, University of Melbourne, Australia (Vance, Coghill, Silk); the Department of Neuroscience, Brighton and Sussex Medical School, Falmer, Brighton, U.K. (Cercignani, Gabel, Harrison); the Social, Genetic, and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology, and Neuroscience, King's College London (Asherson, Kuntsi); the Department of Child and Adolescent Psychiatry and Psychotherapy, Central Institute of Mental Health, Mannheim, Medical Faculty Mannheim/Heidelberg University, Mannheim, Germany (Baumeister, Brandeis, Hohmann, Banaschewski); the Department of Child and Adolescent Psychiatry and Psychotherapy, Psychiatric Hospital, University of Zurich, Zurich (Brandeis, Brem, Walitza); the Neuroscience Center Zurich, University of Zurich and ETH Zurich, Zurich (Brandeis, Brem, Walitza); the D'Or Institute for Research and Education, Rio de Janeiro (Bramati, Tovar-Moll, Mattos); the Morphological Sciences Program, Federal University of Rio de Janeiro, Rio de Janeiro (Tovar-Moll); the Department of Psychiatry and Psychotherapy, University Hospital of Tübingen, Tübingen, Germany (Fallgatter, Schwarz, Ethofer); LEAD Graduate School, University of Tübingen, Germany (Fallgatter); the Department of Biomedical Magnetic Resonance, University of Tübingen, Tübingen, Germany (Kardatzki, Ethofer); the National Medical Research Center for Children's Health, Department of Magnetic Resonance Imaging and Densitometry, Moscow (Anikin); the National Medical Research Center for Children's Health, Moscow (Baranov, Solovieva); Russian National Research Medical University, Ministry of Health and Social Development of the Russian Federation, Central Clinical Hospital MSHE, Moscow (Namazova-Baranova); the National Medical Research Center for Children's Health, Laboratory of Neurology and Cognitive Health, Moscow (Gogberashvili, Karkashadze); the National Medical Research Center for Children's Health, Department of Information Technologies, Moscow (Kapilushniy); the Department of Pediatrics, Erasmus MC-Sophia, Rotterdam, the Netherlands (El Marroun); the Department of Psychology, Education, and Child Studies, Erasmus University Rotterdam, Rotterdam, the Netherlands (El Marroun); the Department of Radiology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands (White); Federal University of Rio de Janeiro, Rio de Janeiro (Mattos); the Department of Psychiatry, University of Melbourne, Melbourne, Australia (Coghill); the Murdoch Children's Research Institute, Melbourne, Australia (Coghill, Silk); the Division of Neuroscience, University of Dundee, Dundee, U.K. (Coghill); the Child and Adolescent Mental Health Center, Capital Region Copenhagen (Plessen); the Division of Child and Adolescent Psychiatry, Department of Psychiatry, University Hospital Lausanne, Switzerland (Plessen); the Department of Neuroimaging, Institute of Psychiatry, Psychology, and Neuroscience, King's College London (Mehta, Paloyelis); Sussex Partnership NHS Foundation Trust, Swandean, East Sussex, U.K. (Harrison); the Monash Institute for Cognitive and Clinical Neurosciences (MICCN) and the School of Psychological Sciences, Monash University, Melbourne, Australia (Bellgrove); Deakin University, School of Psychology, Geelong, Australia (Silk); the Department of Medicine, University of Barcelona, Barcelona, Spain (Lazaro); the Department of Psychiatry and Psychotherapy, Otto von Guericke University Magdeburg, Germany (Frodl); the German Center for Neurodegenerative Diseases (DZNE), Germany (Frodl); Bezirksklinikum Regensburg, Germany (Zentis); the Nathan Kline Institute for Psychiatric Research, Orangeburg, N.Y. (Castellanos); the Brain Imaging Center, Amsterdam University Medical Centers, Amsterdam (Reneman); the Department of Child and Adolescent Psychiatry, Psychosomatics, and Psychotherapy, Tübingen, Germany (Conzelmann); the Department of Psychology, Biological Psychology, Clinical Psychology, and Psychotherapy, University of Würzburg, Würzburg, Germany (Conzelmann, Pauli, Baur-Streubel, Zierhut); the Laboratory of Psychiatric Neurobiology, Institute of Molecular Medicine, I.M. Sechenov First Moscow State Medical University, Moscow (Lesch); the Department of Neuroscience, School for Mental Health and Neuroscience (MHeNS), Maastricht University, Maastricht, the Netherlands (Lesch); the Department of Psychiatry, Psychosomatic Medicine, and Psychotherapy, University Hospital Frankfurt, Frankfurt, Germany (Reif); JARA Institute Molecular Neuroscience and Neuroimaging (INM-11), Institute for Neuroscience and Medicine, Research Center Jülich, Germany (Konrad); Translational Neuroscience, Child and Adolescent Psychiatry, University Hospital RWTH Aachen, Aachen, Germany (Oberwelland Weiss); Cognitive Neuroscience (INM-3), Institute for Neuroscience and Medicine, Research Center Jülich, Germany (Oberwelland Weiss); the Department of Psychiatry, Faculty of Medicine, University of São Paulo, São Paulo, Brazil (Busatto, Louza); the Clinical Neuropsychology Section, Vrije Universiteit Amsterdam, Amsterdam (Oosterlaan); Emma Children's Hospital Amsterdam Medical Center, Amsterdam (Oosterlaan); the Department of Pediatrics, VU Medical Center, Amsterdam (Oosterlaan); the Department of Psychiatry, Yale University School of Medicine, New Haven, Conn. (Stevens); the Department of Psychiatry, Vall d'Hebron University Hospital, Barcelona, Spain (Ramos-Quiroga); Biomedical Network Research Center on Mental Health (CIBERSAM), Barcelona, Spain (Lazaro, Ramos-Quiroga); Hospital del Mar Medical Research Institute (IMIM), Barcelona, Spain (Vilarroya); the Department of Psychiatry, Oregon Health and Science University, Portland (Fair, Nigg); Karakter Child and Adolescent Psychiatry University Center, Nijmegen, the Netherlands (Buitelaar); Departments of Psychiatry and of Neuroscience and Physiology, SUNY Upstate Medical University, Syracuse, New York (Faraone); NIHM, Bethesda, Md. (Shaw); the Department of Social and Behavioral Science, Harvard T.H. Chan School of Public Health, Boston (Tiemeier).

Objective: Neuroimaging studies show structural alterations of various brain regions in children and adults with attention deficit hyperactivity disorder (ADHD), although nonreplications are frequent. The authors sought to identify cortical characteristics related to ADHD using large-scale studies.

Methods: Cortical thickness and surface area (based on the Desikan-Killiany atlas) were compared between case subjects with ADHD (N=2,246) and control subjects (N=1,934) for children, adolescents, and adults separately in ENIGMA-ADHD, a consortium of 36 centers. Read More

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http://dx.doi.org/10.1176/appi.ajp.2019.18091033DOI Listing

EEG Window Length Evaluation for the Detection of Alzheimer's Disease over Different Brain Regions.

Brain Sci 2019 Apr 14;9(4). Epub 2019 Apr 14.

Department of Informatics and Telecommunications Engineering, University of Western Macedonia, GR50100 Kozani, Greece.

Alzheimer's Disease () is a neurogenerative disorder and the most common type of dementia with a rapidly increasing world prevalence. In this paper, the ability of several statistical and spectral features to detect from electroencephalographic () recordings is evaluated. For this purpose, clinical recordings from 14 patients with (8 with mild and 6 with moderate ) and 10 healthy, age-matched individuals are analyzed. Read More

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http://dx.doi.org/10.3390/brainsci9040081DOI Listing

Differential effects of neurodegeneration biomarkers on subclinical cognitive decline.

Alzheimers Dement (N Y) 2019 12;5:129-138. Epub 2019 Apr 12.

Wisconsin Alzheimer's Disease Research Center, University of Wisconsin-Madison, Madison, WI, USA.

Introduction: Neurodegeneration appears to be the biological mechanism most proximate to cognitive decline in Alzheimer's disease. We test whether t-tau and alternative biomarkers of neurodegeneration-neurogranin and neurofilament light protein (NFL)-add value in predicting subclinical cognitive decline.

Methods: One hundred fifty cognitively unimpaired participants received a lumbar puncture for cerebrospinal fluid and at least two neuropsychological examinations (mean age at first visit = 59. Read More

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http://dx.doi.org/10.1016/j.trci.2019.02.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6462765PMC

White matter hyperintensities in vascular contributions to cognitive impairment and dementia (VCID): Knowledge gaps and opportunities.

Alzheimers Dement (N Y) 2019 9;5:107-117. Epub 2019 Apr 9.

Molecular & Clinical Sciences Research Institute, St George's University of London and Department of Neurology, St George's University Hospitals NHS Foundation Trust, London, UK.

White matter hyperintensities (WMHs) are frequently seen on brain magnetic resonance imaging scans of older people. Usually interpreted clinically as a surrogate for cerebral small vessel disease, WMHs are associated with increased likelihood of cognitive impairment and dementia (including Alzheimer's disease [AD]). WMHs are also seen in cognitively healthy people. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S23528737193000
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http://dx.doi.org/10.1016/j.trci.2019.02.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6461571PMC
April 2019
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Multi-platform discovery of haplotype-resolved structural variation in human genomes.

Nat Commun 2019 Apr 16;10(1):1784. Epub 2019 Apr 16.

The Jackson Laboratory for Genomic Medicine, Farmington, CT, 06032, USA.

The incomplete identification of structural variants (SVs) from whole-genome sequencing data limits studies of human genetic diversity and disease association. Here, we apply a suite of long-read, short-read, strand-specific sequencing technologies, optical mapping, and variant discovery algorithms to comprehensively analyze three trios to define the full spectrum of human genetic variation in a haplotype-resolved manner. We identify 818,054 indel variants (<50 bp) and 27,622 SVs (≥50 bp) per genome. Read More

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http://www.nature.com/articles/s41467-018-08148-z
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http://dx.doi.org/10.1038/s41467-018-08148-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6467913PMC
April 2019
5 Reads

Associations of variants In the hexokinase 1 and interleukin 18 receptor regions with oxyhemoglobin saturation during sleep.

PLoS Genet 2019 Apr 16;15(4):e1007739. Epub 2019 Apr 16.

Division of Sleep and Circadian Disorders, Brigham and Women's Hospital, Boston, MA, United States of America.

Sleep disordered breathing (SDB)-related overnight hypoxemia is associated with cardiometabolic disease and other comorbidities. Understanding the genetic bases for variations in nocturnal hypoxemia may help understand mechanisms influencing oxygenation and SDB-related mortality. We conducted genome-wide association tests across 10 cohorts and 4 populations to identify genetic variants associated with three correlated measures of overnight oxyhemoglobin saturation: average and minimum oxyhemoglobin saturation during sleep and the percent of sleep with oxyhemoglobin saturation under 90%. Read More

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http://dx.doi.org/10.1371/journal.pgen.1007739DOI Listing
April 2019
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Intrinsic brain activity changes associated with adjuvant chemotherapy in older women with breast cancer: a pilot longitudinal study.

Breast Cancer Res Treat 2019 Apr 13. Epub 2019 Apr 13.

Center for Cancer and Aging, City of Hope National Medical Center, Duarte, CA, USA.

Purpose: Older cancer patients are at increased risk of cancer-related cognitive impairment. The purpose of this study was to assess the alterations in intrinsic brain activity associated with adjuvant chemotherapy in older women with breast cancer.

Methods: Chemotherapy treatment (CT) group included sixteen women aged ≥ 60 years (range 60-82 years) with stage I-III breast cancers, who underwent both resting-state functional magnetic resonance imaging (rs-fMRI) and neuropsychological testing with NIH Toolbox for Cognition before adjuvant chemotherapy, at time point 1 (TP1), and again within 1 month after completing chemotherapy, at time point 2 (TP2). Read More

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http://dx.doi.org/10.1007/s10549-019-05230-yDOI Listing

Decreased Total Iron Binding Capacity May Correlate with Ruptured Intracranial Aneurysms.

Sci Rep 2019 Apr 15;9(1):6054. Epub 2019 Apr 15.

Department of Neurosurgery, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.

Iron and its derivatives play a significant role in various physiological and biochemical pathways, and are influenced by a wide variety of inflammatory, infectious, and immunological disorders. We hypothesized that iron and its related factors play a role in intracranial aneurysm pathophysiology and investigated if serum iron values are associated with ruptured intracranial aneurysms. 4,701 patients with 6,411 intracranial aneurysms, including 1201 prospective patients, who were diagnosed at the Massachusetts General Hospital and Brigham and Women's Hospital between 1990 and 2016 were evaluated. Read More

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http://dx.doi.org/10.1038/s41598-019-42622-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6465340PMC

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer.

Authors:
Manuel A Ferreira Eric R Gamazon Fares Al-Ejeh Kristiina Aittomäki Irene L Andrulis Hoda Anton-Culver Adalgeir Arason Volker Arndt Kristan J Aronson Banu K Arun Ella Asseryanis Jacopo Azzollini Judith Balmaña Daniel R Barnes Daniel Barrowdale Matthias W Beckmann Sabine Behrens Javier Benitez Marina Bermisheva Katarzyna Białkowska Carl Blomqvist Natalia V Bogdanova Stig E Bojesen Manjeet K Bolla Ake Borg Hiltrud Brauch Hermann Brenner Annegien Broeks Barbara Burwinkel Trinidad Caldés Maria A Caligo Daniele Campa Ian Campbell Federico Canzian Jonathan Carter Brian D Carter Jose E Castelao Jenny Chang-Claude Stephen J Chanock Hans Christiansen Wendy K Chung Kathleen B M Claes Christine L Clarke Fergus J Couch Angela Cox Simon S Cross Kamila Czene Mary B Daly Miguel de la Hoya Joe Dennis Peter Devilee Orland Diez Thilo Dörk Alison M Dunning Miriam Dwek Diana M Eccles Bent Ejlertsen Carolina Ellberg Christoph Engel Mikael Eriksson Peter A Fasching Olivia Fletcher Henrik Flyger Eitan Friedman Debra Frost Marike Gabrielson Manuela Gago-Dominguez Patricia A Ganz Susan M Gapstur Judy Garber Montserrat García-Closas José A García-Sáenz Mia M Gaudet Graham G Giles Gord Glendon Andrew K Godwin Mark S Goldberg David E Goldgar Anna González-Neira Mark H Greene Jacek Gronwald Pascal Guénel Christopher A Haiman Per Hall Ute Hamann Wei He Jane Heyworth Frans B L Hogervorst Antoinette Hollestelle Robert N Hoover John L Hopper Peter J Hulick Keith Humphreys Evgeny N Imyanitov Claudine Isaacs Milena Jakimovska Anna Jakubowska Paul A James Ramunas Janavicius Rachel C Jankowitz Esther M John Nichola Johnson Vijai Joseph Beth Y Karlan Elza Khusnutdinova Johanna I Kiiski Yon-Dschun Ko Michael E Jones Irene Konstantopoulou Vessela N Kristensen Yael Laitman Diether Lambrechts Conxi Lazaro Goska Leslie Jenny Lester Fabienne Lesueur Sara Lindström Jirong Long Jennifer T Loud Jan Lubiński Enes Makalic Arto Mannermaa Mehdi Manoochehri Sara Margolin Tabea Maurer Dimitrios Mavroudis Lesley McGuffog Alfons Meindl Usha Menon Kyriaki Michailidou Austin Miller Marco Montagna Fernando Moreno Lidia Moserle Anna Marie Mulligan Katherine L Nathanson Susan L Neuhausen Heli Nevanlinna Ines Nevelsteen Finn C Nielsen Liene Nikitina-Zake Robert L Nussbaum Kenneth Offit Edith Olah Olufunmilayo I Olopade Håkan Olsson Ana Osorio Janos Papp Tjoung-Won Park-Simon Michael T Parsons Inge Sokilde Pedersen Ana Peixoto Paolo Peterlongo Paul D P Pharoah Dijana Plaseska-Karanfilska Bruce Poppe Nadege Presneau Paolo Radice Johanna Rantala Gad Rennert Harvey A Risch Emmanouil Saloustros Kristin Sanden Elinor J Sawyer Marjanka K Schmidt Rita K Schmutzler Priyanka Sharma Xiao-Ou Shu Jacques Simard Christian F Singer Penny Soucy Melissa C Southey John J Spinelli Amanda B Spurdle Jennifer Stone Anthony J Swerdlow William J Tapper Jack A Taylor Manuel R Teixeira Mary Beth Terry Alex Teulé Mads Thomassen Kathrin Thöne Darcy L Thull Marc Tischkowitz Amanda E Toland Diana Torres Thérèse Truong Nadine Tung Celine M Vachon Christi J van Asperen Ans M W van den Ouweland Elizabeth J van Rensburg Ana Vega Alessandra Viel Qin Wang Barbara Wappenschmidt Jeffrey N Weitzel Camilla Wendt Robert Winqvist Xiaohong R Yang Drakoulis Yannoukakos Argyrios Ziogas Peter Kraft Antonis C Antoniou Wei Zheng Douglas F Easton Roger L Milne Jonathan Beesley Georgia Chenevix-Trench

Nat Commun 2019 Apr 15;10(1):1741. Epub 2019 Apr 15.

Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD, 4006, Australia.

Genome-wide association studies (GWAS) have identified more than 170 breast cancer susceptibility loci. Here we hypothesize that some risk-associated variants might act in non-breast tissues, specifically adipose tissue and immune cells from blood and spleen. Using expression quantitative trait loci (eQTL) reported in these tissues, we identify 26 previously unreported, likely target genes of overall breast cancer risk variants, and 17 for estrogen receptor (ER)-negative breast cancer, several with a known immune function. Read More

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http://dx.doi.org/10.1038/s41467-018-08053-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6465407PMC
April 2019
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Fluid Intake But Not Fluid Balance Is Associated With Poor Outcome in Nontraumatic Subarachnoid Hemorrhage Patients.

Crit Care Med 2019 Apr 15. Epub 2019 Apr 15.

Neurological Intensive Care Unit, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.

Objectives: Optimal fluid management is important in patients with acute brain injury, including subarachnoid hemorrhage. We aimed to examine the relationship between daily fluid intake and fluid balance with hospital complications and functional outcome.

Design: Retrospective observational cohort study. Read More

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http://dx.doi.org/10.1097/CCM.0000000000003775DOI Listing
April 2019
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Immune Cell Profiling of the Cerebrospinal Fluid Provides Pathogenetic Insights Into Inflammatory Neuropathies.

Front Immunol 2019 21;10:515. Epub 2019 Mar 21.

Department of Neurology, Institute of Translational Neurology, University of Münster, Münster, Germany.

Utilize immune cell profiles in the cerebrospinal fluid (CSF) to advance the understanding and potentially support the diagnosis of inflammatory neuropathies. We analyzed CSF cell flow cytometry data of patients with definite Guillain-Barré syndrome (GBS, = 26) and chronic inflammatory demyelinating polyneuropathy (CIDP, = 32) based on established diagnostic criteria in comparison to controls with relapsing-remitting multiple sclerosis (RRMS, = 49) and idiopathic intracranial hypertension (IIH, = 63). Flow cytometry revealed disease-specific changes of CSF cell composition with a significant increase of NKT cells and CD8+ T cells in CIDP, NK cells in GBS, and B cells and plasma cells in MS in comparison to IIH controls. Read More

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http://dx.doi.org/10.3389/fimmu.2019.00515DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6448021PMC
March 2019
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What do parents expect from a genetic diagnosis of their child with intellectual disability?

J Appl Res Intellect Disabil 2019 Apr 15. Epub 2019 Apr 15.

Section for Neuropediatrics and Inborn Errors of Metabolism, University Children's Hospital, Clinic I, Heidelberg, Germany.

Background: Caring for a child with intellectual disability (ID) has been associated with increased social and psychological burdens. Diagnostic and prognostic uncertainty may enhance emotional stress in families.

Method: The present authors assessed the motivations, expectations, mental health, physical health and the quality of life of 194 parents whose children with intellectual disability were undergoing a genetic diagnostic workup. Read More

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http://dx.doi.org/10.1111/jar.12602DOI Listing
April 2019
1 Read

Combined Analysis of Metabolomes, Proteomes, and Transcriptomes of HCV-infected Cells and Liver to Identify Pathways Associated With Disease Development.

Gastroenterology 2019 Apr 9. Epub 2019 Apr 9.

Institut National de la Santé et de la Recherche Médicale, U1110, Institut de Recherche sur les Maladies Virales et Hépatiques, Université de Strasbourg (IVH) Strasbourg F-67000, France; Université de Strasbourg F-67000, France; Pôle Hépato-digestif, Institut Hopitalo-Universitaire, Strasbourg F-67000, France. Electronic address:

Background & Aims: The mechanisms of hepatitis C virus (HCV) infection, liver disease progression, and hepatocarcinogenesis are only partially understood. We performed genomic, proteomic, and metabolomic analyses of HCV-infected cells and chimeric mice to learn more about these processes.

Methods: Huh7. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00165085193567
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http://dx.doi.org/10.1053/j.gastro.2019.04.003DOI Listing
April 2019
11 Reads
16.716 Impact Factor

Full exploitation of high dimensionality in brain imaging: The JPND working group statement and findings.

Alzheimers Dement (Amst) 2019 Dec 30;11:286-290. Epub 2019 Mar 30.

Department of Epidemiology, Erasmus University Medical Center Rotterdam, Rotterdam, the Netherlands.

Advances in technology enable increasing amounts of data collection from individuals for biomedical research. Such technologies, for example, in genetics and medical imaging, have also led to important scientific discoveries about health and disease. The combination of multiple types of high-throughput data for complex analyses, however, has been limited by analytical and logistic resources to handle high-dimensional data sets. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S23528729193001
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http://dx.doi.org/10.1016/j.dadm.2019.02.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6441785PMC
December 2019
1 Read

TMEM106B Effect on Cognition in Parkinson's Disease and Frontotemporal Dementia.

Ann Neurol 2019 Apr 11. Epub 2019 Apr 11.

Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.

Objective: Common variants near TMEM106B associate with risk of developing frontotemporal dementia (FTD). Emerging evidence suggests a role for TMEM106B in neurodegenerative processes beyond FTD. The objective of this study is to evaluate the effect of TMEM106B genotype on cognitive decline across multiple neurogenerative diseases. Read More

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http://dx.doi.org/10.1002/ana.25486DOI Listing
April 2019
1 Read

Glioma risk associated with extent of estimated European genetic ancestry in African Americans and Hispanics.

Int J Cancer 2019 Apr 9. Epub 2019 Apr 9.

Department of Medicine, Section of Epidemiology and Population Sciences, Dan L. Duncan Comprehensive Cancer Center, Baylor College of Medicine, Houston, TX.

Glioma incidence is highest in non-Hispanic Whites, and to date, glioma genome-wide association studies (GWAS) to date have only included European ancestry (EA) populations. African Americans and Hispanics in the US have varying proportions of EA, African (AA) and Native American ancestries (NAA). It is unknown if identified GWAS loci or increased EA is associated with increased glioma risk. Read More

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http://dx.doi.org/10.1002/ijc.32318DOI Listing

Childhood trauma history is linked to abnormal brain connectivity in major depression.

Proc Natl Acad Sci U S A 2019 Apr 8;116(17):8582-8590. Epub 2019 Apr 8.

Center for Neuromodulation in Depression and Stress, Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104;

Patients with major depressive disorder (MDD) present with heterogeneous symptom profiles, while neurobiological mechanisms are still largely unknown. Brain network studies consistently report disruptions of resting-state networks (RSNs) in patients with MDD, including hypoconnectivity in the frontoparietal network (FPN), hyperconnectivity in the default mode network (DMN), and increased connection between the DMN and FPN. Using a large, multisite fMRI dataset ( = 189 patients with MDD, = 39 controls), we investigated network connectivity differences within and between RSNs in patients with MDD and healthy controls. Read More

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http://dx.doi.org/10.1073/pnas.1900801116DOI Listing
April 2019
8 Reads

Perturbation Treadmill Training Improves Clinical Characteristics of Gait and Balance in Parkinson's Disease.

J Parkinsons Dis 2019 Apr 3. Epub 2019 Apr 3.

Department of Molecular Neurology, University Hospital Erlangen, Friedrich-Alexander University (FAU) Erlangen-Nürnberg, Germany.

Background: Impaired gait and postural stability are cardinal motor symptoms in Parkinson's disease (PD). Treadmill training improves gait characteristics in PD.

Objective: This study investigates if postural perturbations during treadmill training improve motor performance and particularly gait and postural stability in PD. Read More

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http://dx.doi.org/10.3233/JPD-181534DOI Listing
April 2019
3 Reads

Heritability and genetic variance of dementia with Lewy bodies.

Neurobiol Dis 2019 Apr 3;127:492-501. Epub 2019 Apr 3.

Department of Neurodegenerative Diseases, UCL Institute of Neurology, London, UK; UK Dementia Research Institute (UK DRI) at UCL, London, UK. Electronic address:

Recent large-scale genetic studies have allowed for the first glimpse of the effects of common genetic variability in dementia with Lewy bodies (DLB), identifying risk variants with appreciable effect sizes. However, it is currently well established that a substantial portion of the genetic heritable component of complex traits is not captured by genome-wide significant SNPs. To overcome this issue, we have estimated the proportion of phenotypic variance explained by genetic variability (SNP heritability) in DLB using a method that is unbiased by allele frequency or linkage disequilibrium properties of the underlying variants. Read More

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http://dx.doi.org/10.1016/j.nbd.2019.04.004DOI Listing
April 2019
1 Read
5.078 Impact Factor

The Significance of Contrast Density of the Computed Tomography-Angiographic Spot Sign and its Correlation with Hematoma Expansion.

J Stroke Cerebrovasc Dis 2019 Apr 1. Epub 2019 Apr 1.

The Ohio State University Wexner Medical Center, Department of Neurology - Cerebrovascular and Neurocritical Care Division, Columbus, Ohio, USA.

Background And Purpose: The computed tomography angiographic (CTA) spot sign has been shown to predict hematoma expansion in patients with intracranial hemorrhage (ICH), but the significance of the spot sign density (SSD) and the spot sign ratio (SSR) has not yet been explored.

Methods: Using the institutional Neurocritical care and Stroke registry, we retrospectively reviewed patients with ICH from January-2013 to June-2017. We selected patients who had baseline CT-head (CTH), CTA with positive-spot sign within 6hours of last known well and at least one follow-up CTH within 24hours. Read More

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http://dx.doi.org/10.1016/j.jstrokecerebrovasdis.2019.03.020DOI Listing
April 2019
3 Reads

MarmoDetector: A Novel 3D Automated System for the Quantitative Assessment of Marmoset Behavior.

J Neurosci Methods 2019 Apr 1. Epub 2019 Apr 1.

Department of Neurology, Graduate School of Medicine, Osaka University, Suita, Osaka, Japan. Electronic address:

Background: Callithrix jacchus, generally known as the common marmoset, has recently garnered interest as an experimental primate model for better understanding the basis of human social behavior, architecture and function. Modelling human neurological and psychological diseases in marmosets can enhance the knowledge obtained from rodent research for future pre-clinical studies. Hence, comprehensive and quantitative assessments of marmoset behaviors are crucial. Read More

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http://dx.doi.org/10.1016/j.jneumeth.2019.03.016DOI Listing

Long-Term Implantable, Flexible, and Transparent Neural Interface Based on Ag/Au Core-Shell Nanowires.

Adv Healthc Mater 2019 Apr 4:e1900130. Epub 2019 Apr 4.

Institute of Scientific and Industrial Research (ISIR), Osaka University, Mihogaoka 8-1, Ibaraki, Osaka, 567-0047, Japan.

Neural interfaces enabling light transmittance rely on optogenetics to control and monitor specific neural activity, thereby facilitating deeper understanding of intractable diseases. This study reports the material strategy underlying an optogenetic neural interface comprising stretchable and transparent conductive tracks and capable of demonstrating high biocompatibility after long-term (5-month) implantation. Ag/Au core-shell nanowires contribute toward improving track performance in terms of stretchability (<60% strain), transparency (<83%), and electrical resistance (15 Ω sq ). Read More

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http://dx.doi.org/10.1002/adhm.201900130DOI Listing
April 2019
2 Reads

CD22 blockade restores homeostatic microglial phagocytosis in ageing brains.

Nature 2019 Apr 3;568(7751):187-192. Epub 2019 Apr 3.

Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, CA, USA.

Microglia maintain homeostasis in the central nervous system through phagocytic clearance of protein aggregates and cellular debris. This function deteriorates during ageing and neurodegenerative disease, concomitant with cognitive decline. However, the mechanisms of impaired microglial homeostatic function and the cognitive effects of restoring this function remain unknown. Read More

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http://dx.doi.org/10.1038/s41586-019-1088-4DOI Listing
April 2019
1 Read

Large-scale plasma metabolome analysis reveals alterations in HDL metabolism in migraine.

Neurology 2019 Apr 3;92(16):e1899-e1911. Epub 2019 Apr 3.

From the Departments of Neurology (G.L.J.O., J.A.P., D.A.K., R.Z., I.d.B., M.D.F., G.M.T., A.M.J.M.v.d.M.), Human Genetics (A.D., L.S.V., P.A.C.'tH., A.M.J.M.v.d.M.), Molecular Epidemiology (M.B., P.E.S.), Radiology (D.A.K.), and Medical Statistics (J.J.G.), Leiden University Medical Centre; Department of Biological Psychology (L.L., R.P., D.I.B.), Vrije Universiteit Amsterdam; Amsterdam Public Health Institute (L.L.); Amsterdam Neuroscience and Amsterdam Public Health (M.B., C.S.T., Y.M., D.I.B., B.W.P.); Department of Psychiatry (M.B., C.S.T., Y.M., B.W.P.), VU University Medical Centre/GGZ inGeest, Amsterdam; Departments of Epidemiology (A.D., J.L., K.-x.W., N.A., M.A.I., C.M.v.D.) and Neurology (M.A.I.), Erasmus Medical Centre, Rotterdam; Departments of Genetics (J.F., L.F., C.W.) and Pediatrics (J.F.), University Medical Centre Groningen; Department of Internal Medicine (C.J.H.v.d.K., F.H.M.V., M.M.J.v.G., M.T.S., C.D.A.S.) and Heart and Vascular Center (M.T.S.), Maastricht University Medical Centre; CARIM School for Cardiovascular Diseases (C.J.H.v.d.K., M.M.J.v.G., I.C.W.A., M.T.S., P.C.D., C.D.A.S.), Department of Epidemiology (I.C.W.A.), MaCSBio Maastricht Centre for Systems Biology (I.C.W.A.), and Department of Epidemiology (P.C.D.), Maastricht University; Department of Radiology (M.A.I.), Erasmus MC University Medical Centre, Rotterdam; Leiden Academic Centre in Drug Research, Faculty Science (C.M.v.D.), Leiden University; and Centre for Molecular and Biomolecular Informatics (P.A.C.'tH.), Radboud University Medical Centre Nijmegen, Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands.

Objective: To identify a plasma metabolomic biomarker signature for migraine.

Methods: Plasma samples from 8 Dutch cohorts (n = 10,153: 2,800 migraine patients and 7,353 controls) were profiled on a H-NMR-based metabolomics platform, to quantify 146 individual metabolites (e.g. Read More

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http://dx.doi.org/10.1212/WNL.0000000000007313DOI Listing
April 2019
1 Read
8.286 Impact Factor

Incomplete description of the current body of evidence of the health economics of Duchenne muscular dystrophy.

Orphanet J Rare Dis 2019 Apr 2;14(1):75. Epub 2019 Apr 2.

Medical Management Centre, Department of Learning, Informatics, Management and Ethics, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1186/s13023-018-0975-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6446357PMC
April 2019
1 Read

Cannabidiol as adjunctive treatment of seizures associated with Lennox-Gastaut syndrome and Dravet syndrome.

Drugs Today (Barc) 2019 Mar;55(3):177-196

Department of Neuroscience, Biomedicine and Movement Science, University of Verona, Verona, Italy; Division of Neurology, "Franz Tappeiner" Hospital, Merano, Bolzano, Italy.

Epilepsy is one of the most common chronic disorders of the brain affecting around 70 million people worldwide. Treatment is mainly symptomatic, and most patients achieve long-term seizure control. Up to one-third of the affected subjects, however, are resistant to anticonvulsant therapy. Read More

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http://dx.doi.org/10.1358/dot.2019.55.3.2909248DOI Listing
March 2019
2 Reads

Effects of Repetitive Transcranial Magnetic Stimulation over Prefrontal Cortex on Attention in Psychiatric Disorders: A Systematic Review.

J Clin Med 2019 Mar 27;8(4). Epub 2019 Mar 27.

Department of Neurology, Christian Doppler Klinik, Paracelsus Medical University, 5020 Salzburg, Austria.

Repetitive transcranial magnetic stimulation (rTMS) may be effective for enhancing cognitive functioning. In this review, we aimed to systematically evaluate the effects of rTMS on attention in psychiatric diseases. In particular, we searched PubMed and Embase to examine the effectiveness of rTMS administered to the dorsolateral prefrontal cortex (DLPFC) on this specific cognitive domain. Read More

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http://dx.doi.org/10.3390/jcm8040416DOI Listing
March 2019
5 Reads

Effects of Mild Orthostatic Stimulation on Cerebral Pulsatile Hemodynamics.

Front Physiol 2019 12;10:230. Epub 2019 Mar 12.

Human Informatics Research Institute, National Institute of Advanced Industrial Science and Technology, Tsukuba, Japan.

The augmented cerebral hemodynamic pulsatility could lead to the elevated risk of cerebrovascular disease. To determine the impact of an acute orthostatic challenge on a pulsatile component of cerebral hemodynamics, mild lower body negative pressure (LBNP, -30 mmHg) was applied to 29 men. Middle cerebral artery blood flow velocity (MCAv) was measured by transcranial Doppler technique. Read More

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https://www.frontiersin.org/article/10.3389/fphys.2019.00230
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http://dx.doi.org/10.3389/fphys.2019.00230DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6423479PMC
March 2019
4 Reads

Evaluation of the cost and effectiveness of diverse recruitment methods for a genetic screening study.

Genet Med 2019 Apr 1. Epub 2019 Apr 1.

Department of Medicine, Columbia University Medical Center, New York, NY, USA.

Purpose: Recruitment of participants from diverse backgrounds is crucial to the generalizability of genetic research, but has proven challenging. We retrospectively evaluated recruitment methods used for a study on return of genetic results.

Methods: The costs of study design, development, and participant enrollment were calculated, and the characteristics of the participants enrolled through the seven recruitment methods were examined. Read More

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http://dx.doi.org/10.1038/s41436-019-0497-yDOI Listing
April 2019
1 Read
7.329 Impact Factor

The Pediatric Cell Atlas: Defining the Growth Phase of Human Development at Single-Cell Resolution.

Dev Cell 2019 Apr 28;49(1):10-29. Epub 2019 Mar 28.

Department of Biomedical Informatics, University of Cincinnati College of Medicine, and Cincinnati Children's Hospital Medical Center, Division of Biomedical Informatics, Cincinnati, OH 45229, USA.

Single-cell gene expression analyses of mammalian tissues have uncovered profound stage-specific molecular regulatory phenomena that have changed the understanding of unique cell types and signaling pathways critical for lineage determination, morphogenesis, and growth. We discuss here the case for a Pediatric Cell Atlas as part of the Human Cell Atlas consortium to provide single-cell profiles and spatial characterization of gene expression across human tissues and organs. Such data will complement adult and developmentally focused HCA projects to provide a rich cytogenomic framework for understanding not only pediatric health and disease but also environmental and genetic impacts across the human lifespan. Read More

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http://dx.doi.org/10.1016/j.devcel.2019.03.001DOI Listing
April 2019
3 Reads

Mitochondrial Permeability Uncouples Elevated Autophagy and Lifespan Extension.

Cell 2019 Apr 28;177(2):299-314.e16. Epub 2019 Mar 28.

Department of Medicine, Diabetes Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Medicine, Harvard Medical School, Boston, MA 02115, USA; Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA. Electronic address:

Autophagy is required in diverse paradigms of lifespan extension, leading to the prevailing notion that autophagy is beneficial for longevity. However, why autophagy is harmful in certain contexts remains unexplained. Here, we show that mitochondrial permeability defines the impact of autophagy on aging. Read More

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http://dx.doi.org/10.1016/j.cell.2019.02.013DOI Listing
April 2019
1 Read

Complications, reoperations, readmissions, and length of hospital stay in 34 639 surgical cases of lumbar disc herniation.

Bone Joint J 2019 Apr;101-B(4):470-477

Research and Communication Unit for Musculoskeletal Health, Oslo University Hospital, Oslo, Norway.

Aims: The aims of this study were to determine the rates of surgical complications, reoperations, and readmissions following herniated lumbar disc surgery, and to investigate the impact of sociodemographic factors and comorbidity on the rate of such unfavourable events.

Patients And Methods: This was a longitudinal observation study. Data from herniated lumbar disc operations were retrieved from a large medical database using a combination of procedure and diagnosis codes from all public hospitals in Norway from 1999 to 2013. Read More

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http://dx.doi.org/10.1302/0301-620X.101B4.BJJ-2018-1184.R1DOI Listing

Higher BDNF plasma levels are associated with a normalization of memory dysfunctions during an antidepressant treatment.

Eur Arch Psychiatry Clin Neurosci 2019 Mar 30. Epub 2019 Mar 30.

Department of Psychiatry and Psychotherapy, University Medical Center of the Johannes-Gutenberg-University Mainz, Untere Zahlbacher Straße 8, 55131, Mainz, Germany.

One important symptom of patients with major depressive disorder (MDD) is memory dysfunction. However, little is known about the relationship between memory performance and depression severity, about the course of memory performance during antidepressant treatment as well as about the relationship between memory performance and brain-derived neurotrophic factor (BDNF). Memory function [learning and delayed recall) was assessed in 173 MDD patients (mean age 39. Read More

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http://dx.doi.org/10.1007/s00406-019-01006-zDOI Listing
March 2019
1 Read

Linking pre-existing biorepositories for medical research: the PopGen 2.0 Network.

J Community Genet 2019 Mar 29. Epub 2019 Mar 29.

Institute of Medical Informatics and Statistics, Kiel University, Kiel, Germany.

The significance of human biorepositories for modern medical research, particularly for comprehensive population-based genetic analyses, is constantly growing. While large and centralized institutions are usually considered best suited to meet the increasing demand for high-quality "biobanks," most medical research institutions still host rather heterogeneous and fragmented biobanking activities, undertaken by clinical departments with oftentimes rather different scientific scope. Undoubtedly, most clinicians and medical researchers would appreciate infrastructural support in terms of the storage and handling of their biosamples, but they are also likely to expect access to their samples avoiding extensive formal requirements. Read More

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http://dx.doi.org/10.1007/s12687-019-00417-8DOI Listing

Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.

Authors:
Amy R Bentley Yun J Sung Michael R Brown Thomas W Winkler Aldi T Kraja Ioanna Ntalla Karen Schwander Daniel I Chasman Elise Lim Xuan Deng Xiuqing Guo Jingmin Liu Yingchang Lu Ching-Yu Cheng Xueling Sim Dina Vojinovic Jennifer E Huffman Solomon K Musani Changwei Li Mary F Feitosa Melissa A Richard Raymond Noordam Jenna Baker Guanjie Chen Hugues Aschard Traci M Bartz Jingzhong Ding Rajkumar Dorajoo Alisa K Manning Tuomo Rankinen Albert V Smith Salman M Tajuddin Wei Zhao Mariaelisa Graff Maris Alver Mathilde Boissel Jin Fang Chai Xu Chen Jasmin Divers Evangelos Evangelou Chuan Gao Anuj Goel Yanick Hagemeijer Sarah E Harris Fernando P Hartwig Meian He Andrea R V R Horimoto Fang-Chi Hsu Yi-Jen Hung Anne U Jackson Anuradhani Kasturiratne Pirjo Komulainen Brigitte Kühnel Karin Leander Keng-Hung Lin Jian'an Luan Leo-Pekka Lyytikäinen Nana Matoba Ilja M Nolte Maik Pietzner Bram Prins Muhammad Riaz Antonietta Robino M Abdullah Said Nicole Schupf Robert A Scott Tamar Sofer Alena Stancáková Fumihiko Takeuchi Bamidele O Tayo Peter J van der Most Tibor V Varga Tzung-Dau Wang Yajuan Wang Erin B Ware Wanqing Wen Yong-Bing Xiang Lisa R Yanek Weihua Zhang Jing Hua Zhao Adebowale Adeyemo Saima Afaq Najaf Amin Marzyeh Amini Dan E Arking Zorayr Arzumanyan Tin Aung Christie Ballantyne R Graham Barr Lawrence F Bielak Eric Boerwinkle Erwin P Bottinger Ulrich Broeckel Morris Brown Brian E Cade Archie Campbell Mickaël Canouil Sabanayagam Charumathi Yii-Der Ida Chen Kaare Christensen Maria Pina Concas John M Connell Lisa de Las Fuentes H Janaka de Silva Paul S de Vries Ayo Doumatey Qing Duan Charles B Eaton Ruben N Eppinga Jessica D Faul James S Floyd Nita G Forouhi Terrence Forrester Yechiel Friedlander Ilaria Gandin He Gao Mohsen Ghanbari Sina A Gharib Bruna Gigante Franco Giulianini Hans J Grabe C Charles Gu Tamara B Harris Sami Heikkinen Chew-Kiat Heng Makoto Hirata James E Hixson M Arfan Ikram Yucheng Jia Roby Joehanes Craig Johnson Jost Bruno Jonas Anne E Justice Tomohiro Katsuya Chiea Chuen Khor Tuomas O Kilpeläinen Woon-Puay Koh Ivana Kolcic Charles Kooperberg Jose E Krieger Stephen B Kritchevsky Michiaki Kubo Johanna Kuusisto Timo A Lakka Carl D Langefeld Claudia Langenberg Lenore J Launer Benjamin Lehne Cora E Lewis Yize Li Jingjing Liang Shiow Lin Ching-Ti Liu Jianjun Liu Kiang Liu Marie Loh Kurt K Lohman Tin Louie Anna Luzzi Reedik Mägi Anubha Mahajan Ani W Manichaikul Colin A McKenzie Thomas Meitinger Andres Metspalu Yuri Milaneschi Lili Milani Karen L Mohlke Yukihide Momozawa Andrew P Morris Alison D Murray Mike A Nalls Matthias Nauck Christopher P Nelson Kari E North Jeffrey R O'Connell Nicholette D Palmer George J Papanicolau Nancy L Pedersen Annette Peters Patricia A Peyser Ozren Polasek Neil Poulter Olli T Raitakari Alex P Reiner Frida Renström Treva K Rice Stephen S Rich Jennifer G Robinson Lynda M Rose Frits R Rosendaal Igor Rudan Carsten O Schmidt Pamela J Schreiner William R Scott Peter Sever Yuan Shi Stephen Sidney Mario Sims Jennifer A Smith Harold Snieder John M Starr Konstantin Strauch Heather M Stringham Nicholas Y Q Tan Hua Tang Kent D Taylor Yik Ying Teo Yih Chung Tham Henning Tiemeier Stephen T Turner André G Uitterlinden Diana van Heemst Melanie Waldenberger Heming Wang Lan Wang Lihua Wang Wen Bin Wei Christine A Williams Gregory Wilson Mary K Wojczynski Jie Yao Kristin Young Caizheng Yu Jian-Min Yuan Jie Zhou Alan B Zonderman Diane M Becker Michael Boehnke Donald W Bowden John C Chambers Richard S Cooper Ulf de Faire Ian J Deary Paul Elliott Tõnu Esko Martin Farrall Paul W Franks Barry I Freedman Philippe Froguel Paolo Gasparini Christian Gieger Bernardo L Horta Jyh-Ming Jimmy Juang Yoichiro Kamatani Candace M Kammerer Norihiro Kato Jaspal S Kooner Markku Laakso Cathy C Laurie I-Te Lee Terho Lehtimäki Patrik K E Magnusson Albertine J Oldehinkel Brenda W J H Penninx Alexandre C Pereira Rainer Rauramaa Susan Redline Nilesh J Samani James Scott Xiao-Ou Shu Pim van der Harst Lynne E Wagenknecht Jun-Sing Wang Ya Xing Wang Nicholas J Wareham Hugh Watkins David R Weir Ananda R Wickremasinghe Tangchun Wu Eleftheria Zeggini Wei Zheng Claude Bouchard Michele K Evans Vilmundur Gudnason Sharon L R Kardia Yongmei Liu Bruce M Psaty Paul M Ridker Rob M van Dam Dennis O Mook-Kanamori Myriam Fornage Michael A Province Tanika N Kelly Ervin R Fox Caroline Hayward Cornelia M van Duijn E Shyong Tai Tien Yin Wong Ruth J F Loos Nora Franceschini Jerome I Rotter Xiaofeng Zhu Laura J Bierut W James Gauderman Kenneth Rice Patricia B Munroe Alanna C Morrison Dabeeru C Rao Charles N Rotimi L Adrienne Cupples

Nat Genet 2019 04 29;51(4):636-648. Epub 2019 Mar 29.

Department of Biostatistics, Boston University School of Public Health, Boston, MA, USA.

The concentrations of high- and low-density-lipoprotein cholesterol and triglycerides are influenced by smoking, but it is unknown whether genetic associations with lipids may be modified by smoking. We conducted a multi-ancestry genome-wide gene-smoking interaction study in 133,805 individuals with follow-up in an additional 253,467 individuals. Combined meta-analyses identified 13 new loci associated with lipids, some of which were detected only because association differed by smoking status. Read More

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http://dx.doi.org/10.1038/s41588-019-0378-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6467258PMC
April 2019
10 Reads
29.352 Impact Factor

A federated EHR network data completeness tracking system.

J Am Med Inform Assoc 2019 Mar 29. Epub 2019 Mar 29.

Laboratory of Computer Science, Massachusetts General Hospital, Boston, Massachusetts, USA.

Objective: The study sought to design, pilot, and evaluate a federated data completeness tracking system (CTX) for assessing completeness in research data extracted from electronic health record data across the Accessible Research Commons for Health (ARCH) Clinical Data Research Network.

Materials And Methods: The CTX applies a systems-based approach to design workflow and technology for assessing completeness across distributed electronic health record data repositories participating in a queryable, federated network. The CTX invokes 2 positive feedback loops that utilize open source tools (DQe-c and Vue) to integrate technology and human actors in a system geared for increasing capacity and taking action. Read More

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http://dx.doi.org/10.1093/jamia/ocz014DOI Listing
March 2019
2 Reads

Morphometric MRI profiles of multiple system atrophy variants and implications for differential diagnosis.

Mov Disord 2019 Mar 28. Epub 2019 Mar 28.

Department of Neurology, Medical University Innsbruck, Innsbruck, Austria.

Background: Manual width measurements of the middle cerebellar peduncle on MRI were shown to improve the accuracy of an imaging-guided diagnosis of multiple system atrophy (MSA). Recently, automated volume segmentation algorithms were able to reliably differentiate patients with Parkinson's disease (PD) and the parkinsonian variant of MSA. The objective of the current study was to integrate probabilistic information of the middle cerebellar peduncle into an existing MRI atlas for automated subcortical segmentation and to evaluate the diagnostic properties of the novel atlas for the differential diagnosis of MSA (parkinsonian and cerebellar variant) versus PD. Read More

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http://dx.doi.org/10.1002/mds.27669DOI Listing
March 2019
1 Read
5.680 Impact Factor

Incident Atrial Fibrillation, Dementia and the Role of Anticoagulation: A Population-Based Cohort Study.

Thromb Haemost 2019 Mar 27. Epub 2019 Mar 27.

Institute for Epidemiology, Statistics and Informatics GmbH, Frankfurt, Germany.

Introduction:  Atrial fibrillation (AF) is associated with dementia. Anticoagulation may modify this relationship, but it is unclear if this is due to stroke reduction alone.

Methods:  Age- and sex-matched individuals from the U. Read More

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http://dx.doi.org/10.1055/s-0039-1683429DOI Listing
March 2019
2 Reads

Target of Triglycerides as Residual Risk for Cardiovascular Events in Patients With Coronary Artery Disease - Post Hoc Analysis of the FMD-J Study A.

Circ J 2019 Mar 26. Epub 2019 Mar 26.

Division of Regeneration and Medicine, Medical Center for Translational and Clinical Research, Hiroshima University Hospital.

Background: Circulating triglyceride (TG) levels are a current focus as a residual risk for cardiovascular (CV) events. We evaluated the relationship between circulating TG levels and future CV events in patients with coronary artery disease (CAD) who were treated with conventional therapy. Methods and Results: We analyzed data for 652 patients who were enrolled in the FMD-J Study A. Read More

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http://dx.doi.org/10.1253/circj.CJ-18-1082DOI Listing
March 2019
4 Reads

Twin-based Heritability of Actimetry Traits.

Genes Brain Behav 2019 Mar 27:e12569. Epub 2019 Mar 27.

Department of Psychiatry, Perelman School of Medicine of the University of Pennsylvania, Philadelphia, PA, USA.

There is a critical need for phenotypes with substantial heritability that can be used as endophenotypes in behavioral genetic studies. Activity monitoring, called actimetry, has potential as a means of assessing sleep and circadian rhythm traits that could serve as endophenotypes relevant to a range of psychopathologies. This study examined a range of actimetry traits for heritability using a classic twin design. Read More

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http://dx.doi.org/10.1111/gbb.12569DOI Listing

Risk factors for early unplanned readmission in patients with bipolar disorder: A retrospective observational study.

Gen Hosp Psychiatry 2019 Mar 18;58:51-58. Epub 2019 Mar 18.

Department of Health Policy and Informatics, Tokyo Medical and Dental University, Graduate School, Japan. Electronic address:

Objectives: Evidence regarding the relationships between patient, hospital, and regional factors and early unplanned readmission (short-term outcome) in patients with bipolar disorder is lacking. This study aimed to examine risk factors associated with early unplanned readmission in patients with bipolar disorder.

Method: We retrospectively analyzed adult bipolar patients (ICD-10; F31) between April 2012 and March 2014 in the Japanese Diagnosis Procedure Combination database. Read More

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http://dx.doi.org/10.1016/j.genhosppsych.2019.03.003DOI Listing
March 2019
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Analgesic prescribing trends in a national sample of older veterans with osteoarthritis: 2012-2017.

Pain 2019 Jan 29. Epub 2019 Jan 29.

Geriatric Research, Education, and Clinical Center (GRECC), James J. Peters VAMC, Bronx, NY, United States.

Few investigations examine patterns of opioid and nonopioid analgesic prescribing and concurrent pain intensity ratings before and after institution of safer prescribing programs such as the October 2013 Veterans Health Administration system-wide Opioid Safety Initiative (OSI) implementation. We conducted a quasi-experimental pre-post observational study of all older U.S. Read More

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http://dx.doi.org/10.1097/j.pain.0000000000001509DOI Listing
January 2019

Guidance to 2018 good practice: ARIA digitally-enabled, integrated, person-centred care for rhinitis and asthma.

Clin Transl Allergy 2019 11;9:16. Epub 2019 Mar 11.

115Nova Southeastern University, Fort Lauderdale, FL USA.

Aims: Mobile Airways Sentinel NetworK (MASK) belongs to the Fondation Partenariale MACVIA-LR of Montpellier, France and aims to provide an active and healthy life to rhinitis sufferers and to those with asthma multimorbidity across the life cycle, whatever their gender or socio-economic status, in order to reduce health and social inequities incurred by the disease and to improve the digital transformation of health and care. The ultimate goal is to change the management strategy in chronic diseases.

Methods: MASK implements ICT technologies for individualized and predictive medicine to develop novel care pathways by a multi-disciplinary group centred around the patients. Read More

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http://dx.doi.org/10.1186/s13601-019-0252-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6413444PMC
March 2019
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Evaluation of the psychological burden during the early disease trajectory in patients with intracranial tumors by the ultra-brief Patient Health Questionnaire for Depression and Anxiety (PHQ-4).

Support Care Cancer 2019 Mar 23. Epub 2019 Mar 23.

Department of Neurosurgery, Klinikum Stuttgart, Katharinenhospital, Stuttgart, Germany.

Purpose: Depressive symptoms of patients with intracranial tumors need to be assessed adequately. The Patient Health Questionnaire for Depression and Anxiety (PHQ-4) is an ultra-short screening tool consisting of four items, a cutoff of six indicates depressive symptoms. The aim was to assess patients' psychological burden by the PHQ-4 compared with the results of well-established screening instruments. Read More

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http://dx.doi.org/10.1007/s00520-019-04718-zDOI Listing

Recent practice patterns in diagnostic procedures anticonvulsants, and antibiotics for children hospitalized with febrile seizure.

Seizure 2019 Mar 15;67:52-56. Epub 2019 Mar 15.

Department of Clinical Epidemiology and Health Economics, School of Public Health, The University of Tokyo, Japan.

Purpose This study investigated clinical practice patterns for admissions due to FS at a national level. Method Discharge records were extracted for patients with FS aged < 6 years for the years 2010-16 using national inpatient database in Japan. We ascertained antiepileptic drug use, diagnostic procedures, healthcare costs, and length of hospital stays (LOS), using mixed effect linear or logistic regression models. Read More

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http://dx.doi.org/10.1016/j.seizure.2019.03.007DOI Listing
March 2019
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Concordance of genetic variation that increases risk for tourette syndrome and that influences its underlying neurocircuitry.

Transl Psychiatry 2019 Mar 22;9(1):120. Epub 2019 Mar 22.

Department of Psychiatry and MRC Unit on Risk & Resilience, University of Cape Town, Cape Town, South Africa.

There have been considerable recent advances in understanding the genetic architecture of Tourette syndrome (TS) as well as its underlying neurocircuitry. However, the mechanisms by which genetic variation that increases risk for TS-and its main symptom dimensions-influence relevant brain regions are poorly understood. Here we undertook a genome-wide investigation of the overlap between TS genetic risk and genetic influences on the volume of specific subcortical brain structures that have been implicated in TS. Read More

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http://dx.doi.org/10.1038/s41398-019-0452-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6430767PMC
March 2019
2 Reads
4.360 Impact Factor