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Global, regional, and national burden of neurological disorders during 1990-2015
GBD 2015 Neurological Disorders Collaborator Group
Jan 31, 2019
BACKGROUND: Comparable data on the global and country-specific burden of neurological disorders and their trends are crucial for health-care planning and resource allocation. The Global Burden of Diseases, Injuries, and Risk...
Global, regional, and national burden of neurological disorders, 1990-2016
GBD 2016 Neurology Collaborators
Sep 18, 2019
BACKGROUND: Neurological disorders are increasingly recognised as major causes of death and disability worldwide. The aim of this analysis from the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2016 is to...
Global, regional, and national incidence, prevalence, and years lived with disability for 310 diseases and injuries, 1990-2015
BACKGROUND: Non-fatal outcomes of disease and injury increasingly detract from the ability of the world's population to live in full health, a trend largely attributable to an epidemiological transition in many countries from...
Global, regional, national, and selected subnational levels of stillbirths, neonatal, infant, and under-5 mortality, 1980-2015
GBD 2015 Child Mortality Collaborators
Nov 30, 2017
BACKGROUND: Established in 2000, Millennium Development Goal 4 (MDG4) catalysed extraordinary political, financial, and social commitments to reduce under-5 mortality by two-thirds between 1990 and 2015. At the country level...
Global, regional, and national life expectancy, all-cause mortality, and cause-specific mortality for 249 causes of death, 1980-2015
GBD 2015 Mortality and Causes of Death Collaborators
Nov 21, 2017
BACKGROUND: Improving survival and extending the longevity of life for all populations requires timely, robust evidence on local mortality levels and trends. The Global Burden of Disease 2015 Study (GBD 2015) provides a...
Global, regional, and national levels of maternal mortality, 1990-2015
GBD 2015 Maternal Mortality Collaborators
Nov 30, 2017
BACKGROUND: In transitioning from the Millennium Development Goal to the Sustainable Development Goal era, it is imperative to comprehensively assess progress toward reducing maternal mortality to identify areas of success...
Healthcare Access and Quality Index based on mortality from causes amenable to personal health care in 195 countries and territories, 1990-2015
GBD 2015 Healthcare Access and Quality Collaborators. Electronic address: cjlm@uw.edu, GBD 2015 Healthcare Access and Quality Collaborators
Dec 12, 2017
BACKGROUND: National levels of personal health-care access and quality can be approximated by measuring mortality rates from causes that should not be fatal in the presence of effective medical care (ie, amenable mortality)....
Measuring the health-related Sustainable Development Goals in 188 countries
GBD 2015 SDG Collaborators
Nov 21, 2017
BACKGROUND: In September, 2015, the UN General Assembly established the Sustainable Development Goals (SDGs). The SDGs specify 17 universal goals, 169 targets, and 230 indicators leading up to 2030. We provide an analysis of 33...
Global, regional, and national age-sex-specific mortality for 282 causes of death in 195 countries and territories, 1980-2017
GBD 2017 Causes of Death Collaborators
Feb 01, 2019
BACKGROUND: Global development goals increasingly rely on country-specific estimates for benchmarking a nation's progress. To meet this need, the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2016 estimated...
Prevalence and architecture of de novo mutations in developmental disorders.
Deciphering Developmental Disorders Study
Feb 07, 2020
The genomes of individuals with severe, undiagnosed developmental disorders are enriched in damaging de novo mutations (DNMs) in developmentally important genes. Here we have sequenced the exomes of 4,293 families containing...
Adolescent Adult Autoantigens CDC2 Protein Kinase Casein Kinase II Child Chromosomal Proteins Non-Histone Cohort Studies DEAD-box RNA Helicases DNA-Binding Proteins Developmental Disabilities Exome Female Heredity Histone-Lysine N-Methyltransferase Homeodomain Proteins Humans Male Mi-2 Nucleosome Remodeling and Deacetylase Complex Middle Aged Mutation Myeloid-Lymphoid Leukemia Protein Nerve Tissue Proteins Parents Phenotype prevalence Protein Phosphatase 2C Repressor Proteins Sequence Analysis DNA Sex Characteristics Transcription Factors Young Adult ras GTPase-Activating Proteins
Large-scale discovery of novel genetic causes of developmental disorders.
Deciphering Developmental Disorders Study
Feb 01, 2021
Despite three decades of successful, predominantly phenotype-driven discovery of the genetic causes of monogenic disorders, up to half of children with severe developmental disorders of probable genetic origin remain without a...
Adolescent Animals Carrier Proteins Child Child Preschool Chromosomal Proteins Non-Histone Chromosome Aberrations DEAD-box RNA Helicases DNA-Binding Proteins Developmental Disabilities Dynamin I Exome Female Gene Expression Regulation Developmental Genes Dominant Genome Human Guanine Nucleotide Exchange Factors Homeodomain Proteins Humans Infant Infant Newborn Male Mutation Missense Nerve Tissue Proteins Nuclear Proteins Parents Phosphoproteins Polycomb Repressive Complex 1 Protein Phosphatase 2 Protein Serine-Threonine Kinases Rare Diseases Repressor Proteins Transcription Factors Transposases United Kingdom Zebrafish
The S1P-S1PR Axis in Neurological Disorders-Insights into Current and Future Therapeutic Perspectives.
Alexandra Lucaciu, Robert Brunkhorst, Josef M Pfeilschifter, Waltraud Pfeilschifter, Julien Subburayalu
Jun 23, 2020
Sphingosine 1-phosphate (S1P), derived from membrane sphingolipids, is a pleiotropic bioactive lipid mediator capable of evoking complex immune phenomena. Studies have highlighted its importance regarding intracellular signaling...
S1P1–5 fingolimod Multiple Sclerosis neurodegeneration sphingosine 1-phoshate sphingosine 1-phosphate antagonistst/inhibitors sphingosine 1-phosphate metabolism sphingosine 1-phosphate receptor sphingosine 1-phosphate signaling stroke Humans Lysophospholipids Nervous System Diseases Signal Transduction Sphingosine
Measuring progress from 1990 to 2017 and projecting attainment to 2030 of the health-related Sustainable Development Goals for 195 countries and territories
GBD 2017 SDG Collaborators
Sep 18, 2019
BACKGROUND: Efforts to establish the 2015 baseline and monitor early implementation of the UN Sustainable Development Goals (SDGs) highlight both great potential for and threats to improving health by 2030. To fully deliver on...
Neurological update
Coronavirus Disease 2019 is predominantly a disorder of the respiratory system, but neurological complications have been recognised since early in the pandemic. The major pathophysiological processes leading to neurological...
Global, regional, and national comparative risk assessment of 84 behavioural, environmental and occupational, and metabolic risks or clusters of risks for 195 countries and territories, 1990-2017
GBD 2017 Risk Factor Collaborators
Sep 18, 2019
BACKGROUND: The Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2017 comparative risk assessment (CRA) is a comprehensive approach to risk factor quantification that offers a useful tool for synthesising...
Adolescent Adult Age Distribution Aged Aged 80 and over Child Child Preschool Disabled Persons Environmental Exposure Female Global Burden of Disease Global Health Health Risk Behaviors Humans Infant Infant Newborn Life Expectancy Male Metabolic Diseases Middle Aged Occupational Diseases occupational exposure Quality-Adjusted Life Years Risk Assessment Sex Distribution Socioeconomic Factors Young Adult
Neurological update
Abstract: Coronavirus Disease 2019 is predominantly a disorder of the respiratory system, but neurological complications have been recognised since early in the pandemic. The major pathophysiological processes leading to...
Endoplasmic reticulum dysfunction in neurological disease.
Benoit D Roussel, Antonina J Kruppa, Elena Miranda, Damian C Crowther, David A Lomas, Stefan J Marciniak
May 18, 2018
Endoplasmic reticulum (ER) dysfunction might have an important part to play in a range of neurological disorders, including cerebral ischaemia, sleep apnoea, Alzheimer's disease, multiple sclerosis, amyotrophic lateral...
Global, regional, and national incidence, prevalence, and years lived with disability for 354 diseases and injuries for 195 countries and territories, 1990-2017
BACKGROUND: The Global Burden of Diseases, Injuries, and Risk Factors Study 2017 (GBD 2017) includes a comprehensive assessment of incidence, prevalence, and years lived with disability (YLDs) for 354 causes in 195 countries and...
Adolescent Adult Age Distribution Aged Aged 80 and over Child Child Preschool Disabled Persons Female Global Burden of Disease Global Health Humans Incidence Infant Infant Newborn Life Expectancy Male Middle Aged Morbidity prevalence Sex Distribution Socioeconomic Factors Wounds and Injuries Young Adult
Global, regional, and national burden of Alzheimer's disease and other dementias, 1990-2016
GBD 2016 Dementia Collaborators
Feb 08, 2019
BACKGROUND: The number of individuals living with dementia is increasing, negatively affecting families, communities, and health-care systems around the world. A successful response to these challenges requires an accurate...
Sarcopenia in Neurological Patients
Ariane Steindl, Johannes Leitner, Matthias Schwarz, Karl-Heinz Nenning, Ulrika Asenbaum, Sophie Mayer, Ramona Woitek, Michael Weber, Veronika Schöpf, Anna S Berghoff, Thomas Berger, Georg Widhalm, Daniela Prayer, Matthias Preusser, Julia Furtner
Jul 16, 2020
Temporal muscle thickness (TMT) was investigated as a novel surrogate marker on MRI examinations of the brain, to detect patients who may be at risk for sarcopenia. TMT was analyzed in a retrospective, normal collective cohort...
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease.
Lindsey Van Haute, Emily O'Connor, Héctor Díaz-Maldonado, Benjamin Munro, Kiran Polavarapu, Daniella H Hock, Gautham Arunachal, Alkyoni Athanasiou-Fragkouli, Mainak Bardhan, Magalie Barth, Dominique Bonneau, Nicola Brunetti-Pierri, Gerarda Cappuccio, Nikeisha J Caruana, Natalia Dominik, Himanshu Goel, Guy Helman, Henry Houlden, Guy Lenaers, Karine Mention, David Murphy, Bevinahalli Nandeesh, Catarina Olimpio, Christopher A Powell, Veeramani Preethish-Kumar, Vincent Procaccio, Rocio Rius, Pedro Rebelo-Guiomar, Cas Simons, Seena Vengalil, Maha S Zaki, Alban Ziegler, David R Thorburn, David A Stroud, Reza Maroofian, John Christodoulou, Claes Gustafsson, Atchayaram Nalini, Hanns Lochmüller, Michal Minczuk, Rita Horvath
Mar 26, 2023
Mutations in the mitochondrial or nuclear genomes are associated with a diverse group of human disorders characterized by impaired mitochondrial respiration. Within this group, an increasing number of mutations have been...
Population and fertility by age and sex for 195 countries and territories, 1950-2017
GBD 2017 Population and Fertility Collaborators
Sep 18, 2019
BACKGROUND: Population estimates underpin demographic and epidemiological research and are used to track progress on numerous international indicators of health and development. To date, internationally available estimates of...
Plasma Neurofilament Light as a Biomarker of Neurological Involvement in Wilson's Disease.
Samuel Shribman, Carolin Heller, Maggie Burrows, Amanda Heslegrave, Imogen Swift, Martha S Foiani, Godfrey T Gillett, Emmanuel A Tsochatzis, James B Rowe, Alex Gerhard, Chris R Butler, Mario Masellis, Fion Bremner, Alison Martin, Lynne Jung, Paul Cook, Henrik Zetterberg, Oliver Bandmann, Jonathan D Rohrer, Thomas T Warner
Nov 23, 2020
BACKGROUND: Outcomes are unpredictable for neurological presentations of Wilson's disease (WD). Dosing regimens for chelation therapy vary and monitoring depends on copper indices, which do not reflect end-organ damage....
The contribution of X-linked coding variation to severe developmental disorders.
Hilary C Martin, Eugene J Gardner, Kaitlin E Samocha, Joanna Kaplanis, Nadia Akawi, Alejandro Sifrim, Ruth Y Eberhardt, Ana Lisa Taylor Tavares, Matthew DC Neville, Mari EK Niemi, Giuseppe Gallone, Jeremy McRae, Deciphering Developmental Disorders Study, Caroline F Wright, David R FitzPatrick, Helen V Firth, Matthew E Hurles
Feb 26, 2021
Over 130 X-linked genes have been robustly associated with developmental disorders, and X-linked causes have been hypothesised to underlie the higher developmental disorder rates in males. Here, we evaluate the burden of...
Mapping the serum proteome to neurological diseases using whole genome sequencing.
Grace Png, Andrei Barysenka, Linda Repetto, Pau Navarro, Xia Shen, Maik Pietzner, Eleanor Wheeler, Nicholas Wareham, Claudia Langenberg, Emmanouil Tsafantakis, Maria Karaleftheri, George Dedoussis, Anders Mälarstig, James F Wilson, Arthur Gilly, Eleftheria Zeggini
Dec 15, 2021
Despite the increasing global burden of neurological disorders, there is a lack of effective diagnostic and therapeutic biomarkers. Proteins are often dysregulated in disease and have a strong genetic component. Here, we carry...
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