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Results: 42
One Gene, Many Facets
Julia Körholz, Anastasia Gabrielyan, John M Sowerby, Felix Boschann, Lan-Sun Chen, Diana Paul, David Brandt, Janina Kleymann, Martin Kolditz, Nicole Toepfner, Ralf Knöfler, Eva-Maria Jacobsen, Christine Wolf, Karsten Conrad, Nadja Röber, Min Ae Lee-Kirsch, Kenneth GC Smith, Stefan Mundlos, Reinhard Berner, Alexander H Dalpke, Catharina Schuetz, William Rae
Oct 04, 2021
BACKGROUND: Inborn errors of immunity (IEI) present with a large phenotypic spectrum of disease, which can pose diagnostic and therapeutic challenges. Suppressor of cytokine signaling 1 (SOCS1) is a key negative regulator of...
Hyper-IgE syndrome SOCS1 Autoimmunity Genetic Pleiotropy inborn error of immunity (IEI) Alleles Autoimmunity Biomarkers Case-Control Studies Child Child Preschool Cytokines Female Genetic Diseases Inborn Haploinsufficiency Humans Immune System Job Syndrome Male Models Biological Pedigree Signal Transduction Suppressor of Cytokine Signaling 1 Protein T-Lymphocytes
One Gene, Many Facets
Julia Körholz, Anastasia Gabrielyan, John M. Sowerby, Felix Boschann, Lan-Sun Chen, Diana Paul, David Brandt, Janina Kleymann, Martin Kolditz, Nicole Toepfner, Ralf Knöfler, Eva-Maria Jacobsen, Christine Wolf, Karsten Conrad, Nadja Röber, Min Ae Lee-Kirsch, Kenneth G. C. Smith, Stefan Mundlos, Reinhard Berner, Alexander H. Dalpke, Catharina Schuetz, William Rae
Aug 19, 2021
Background: Inborn errors of immunity (IEI) present with a large phenotypic spectrum of disease, which can pose diagnostic and therapeutic challenges. Suppressor of cytokine signaling 1 (SOCS1) is a key negative regulator of...
Dementia Research
Alzheimer's disease (AD) is a clinicopathologically defined syndrome leading to cognitive impairment. Following the recent failures of amyloid-based randomized controlled trials to change the course of AD, there are growing...
18F-FDG PET for Prediction of Conversion to Alzheimer's Disease Dementia in People with Mild Cognitive Impairment
Fluid Intelligence Predicts Novel Rule Implementation in a Distributed Frontoparietal Control Network
Group-based parent training programmes for improving parental psychosocial health.
BACKGROUND: Parental psychosocial health can have a significant effect on the parent-child relationship, with consequences for the later psychological health of the child. Parenting programmes have been shown to have an impact...
¹⁸F-FDG PET for the early diagnosis of Alzheimer's disease dementia and other dementias in people with mild cognitive impairment (MCI).
Nadja Smailagic, Marco Vacante, Chris Hyde, Steven Martin, Obioha Ukoumunne, Christos Sachpekidis
Sep 08, 2018
BACKGROUND: ¹⁸F-FDFG uptake by brain tissue as measured by positron emission tomography (PET) is a well-established method for assessment of brain function in people with dementia. Certain findings on brain PET scans can...
Individual and group based parenting programmes for improving psychosocial outcomes for teenage parents and their children.
BACKGROUND: Parenting programmes are a potentially important means of supporting teenage parents and improving outcomes for their children, and parenting support is a priority across most Western countries. This review updates...
Plasma and cerebrospinal fluid amyloid beta for the diagnosis of Alzheimer's disease dementia and other dementias in people with mild cognitive impairment (MCI).
Craig Ritchie, Nadja Smailagic, Anna H Noel-Storr, Yemisi Takwoingi, Leon Flicker, Sam E Mason, Rupert McShane
Sep 26, 2018
BACKGROUND: According to the latest revised National Institute of Neurological and Communicative Disorders and Stroke and the Alzheimer's Disease and Related Disorders Association (now known as the Alzheimer's Association)...
(11)C-PIB-PET for the early diagnosis of Alzheimer's disease dementia and other dementias in people with mild cognitive impairment (MCI).
Shuo Zhang, Nadja Smailagic, Chris Hyde, Anna H Noel-Storr, Yemisi Takwoingi, Rupert McShane, Juan Feng
Oct 10, 2018
BACKGROUND: According to the latest revised National Institute of Neurological and Communicative Disorders and Stroke and the Alzheimer's Disease and Related Disorders Association (now known as the Alzheimer's Association)...
BN-Substitution in Dithienylpyrenes Prevents Excimer Formation in Solution and in the Solid State.
Yannik Appiarius, Philipp J Gliese, Stephan AW Segler, Pascal Rusch, Jiangbin Zhang, Paul J Gates, Rumpa Pal, Lorraine A Malaspina, Kunihisa Sugimoto, Tim Neudecker, Nadja C Bigall, Simon Grabowsky, Artem A Bakulin, Anne Staubitz
Apr 19, 2022
Boron-nitrogen substitutions in polycyclic aromatic hydrocarbons (PAHs) have a strong impact on the optical properties of the molecules due to a significantly more heterogeneous electron distribution. However, besides these...
Regional cerebral blood flow single photon emission computed tomography for detection of Frontotemporal dementia in people with suspected dementia.
Hilary A Archer, Nadja Smailagic, Christeena John, Robin B Holmes, Yemisi Takwoingi, Elizabeth J Coulthard, Sarah Cullum
Oct 10, 2018
BACKGROUND: In the UK, dementia affects 5% of the population aged over 65 years and 25% of those over 85 years. Frontotemporal dementia (FTD) represents one subtype and is thought to account for up to 16% of all degenerative...
CSF tau and the CSF tau/ABeta ratio for the diagnosis of Alzheimer's disease dementia and other dementias in people with mild cognitive impairment (MCI).
Craig Ritchie, Nadja Smailagic, Anna H Noel-Storr, Obioha Ukoumunne, Emma C Ladds, Steven Martin
Sep 08, 2018
BACKGROUND: Research suggests that measurable change in cerebrospinal fluid (CSF) biomarkers occurs years in advance of the onset of clinical symptoms (Beckett 2010). In this review, we aimed to assess the ability of CSF tau...
Mini-Mental State Examination (MMSE) for the detection of Alzheimer's disease and other dementias in people with mild cognitive impairment (MCI).
Ingrid Arevalo-Rodriguez, Nadja Smailagic, Marta Roqué I Figuls, Agustín Ciapponi, Erick Sanchez-Perez, Antri Giannakou, Olga L Pedraza, Xavier Bonfill Cosp, Sarah Cullum
Oct 10, 2018
BACKGROUND: Dementia is a progressive global cognitive impairment syndrome. In 2010, more than 35 million people worldwide were estimated to be living with dementia. Some people with mild cognitive impairment (MCI) will progress...
Blue-Green Color Tunable Solution Processable Organolead Chloride-Bromide Mixed Halide Perovskites for Optoelectronic Applications.
Mini-Cog for the diagnosis of Alzheimer's disease dementia and other dementias within a primary care setting.
Dallas P Seitz, Calvin Ch Chan, Hailey T Newton, Sudeep S Gill, Nathan Herrmann, Nadja Smailagic, Vasilis Nikolaou, Bruce A Fage
Oct 03, 2018
BACKGROUND: Alzheimer's disease and other forms of dementia are becoming increasingly common with the aging of most populations. The majority of individuals with dementia will first present for care and assessment in primary...
Mini-Cog for the diagnosis of Alzheimer's disease dementia and other dementias within a community setting.
Bruce A Fage, Calvin Ch Chan, Sudeep S Gill, Anna H Noel-Storr, Nathan Herrmann, Nadja Smailagic, Vasilis Nikolaou, Dallas P Seitz
Oct 03, 2018
BACKGROUND: Alzheimer's disease and related forms of dementia are becoming increasingly prevalent with the aging of many populations. The diagnosis of Alzheimer's disease relies on tests to evaluate cognition and discriminate...
Disturbed neuronal ER-Golgi sorting of unassembled glycine receptors suggests altered subcellular processing is a cause of human hyperekplexia.
Natascha Schaefer, Christoph J Kluck, Kerry L Price, Heike Meiselbach, Nadine Vornberger, Stephan Schwarzinger, Stephanie Hartmann, Georg Langlhofer, Solveig Schulz, Nadja Schlegel, Knut Brockmann, Bryan Lynch, Cord-Michael Becker, Sarah CR Lummis, Carmen Villmann
Sep 02, 2015
assembly biogenesis glycine receptor human hyperekplexia rescue of function subcompartimentalization Amino Acid Sequence Animals COS Cells Child Chlorocebus aethiops Endoplasmic Reticulum Female Golgi Apparatus HEK293 Cells Humans Infant Intracellular Space Male Mice Molecular Sequence Data Neurons Pedigree Protein Structure Secondary Protein Structure Tertiary Receptors Glycine Stiff-Person Syndrome
A general approach for hysteresis-free, operationally stable metal halide perovskite field-effect transistors.
Satyaprasad P Senanayak, Mojtaba Abdi-Jalebi, Varun S Kamboj, Remington Carey, Ravichandran Shivanna, Tian Tian, Guillaume Schweicher, Junzhan Wang, Nadja Giesbrecht, Daniele Di Nuzzo, Harvey E Beere, Pablo Docampo, David A Ritchie, David Fairen-Jimenez, Richard H Friend, Henning Sirringhaus
May 18, 2020
Despite sustained research, application of lead halide perovskites in field-effect transistors (FETs) has substantial concerns in terms of operational instabilities and hysteresis effects which are linked to its ionic nature....
Published by: Science advances
cGMP-Elevating Compounds and Ischemic Conditioning Provide Cardioprotection Against Ischemia and Reperfusion Injury via Cardiomyocyte-Specific BK Channels.
Sandra Frankenreiter, Piotr Bednarczyk, Angelina Kniess, Nadja I Bork, Julia Straubinger, Piotr Koprowski, Antoni Wrzosek, Eva Mohr, Angela Logan, Michael P Murphy, Meinrad Gawaz, Thomas Krieg, Adam Szewczyk, Viacheslav O Nikolaev, Peter Ruth, Robert Lukowski
Dec 10, 2018
BACKGROUND: The nitric oxide-sensitive guanylyl cyclase/cGMP-dependent protein kinase type I signaling pathway can afford protection against the ischemia/reperfusion injury that occurs during myocardial infarction. Reportedly...
cyclic guanosine-3' 5'-monophosphate Ischemic Postconditioning Ischemic preconditioning Mitochondria Myocardial Infarction nitric oxide–sensitive guanylyl cyclase voltage and Ca2+-activated potassium channel BK Animals Benzoates Cardiotonic Agents Cyclic AMP-Dependent Protein Kinase Type I Disease Models Animal Humans Ischemic preconditioning Large-Conductance Calcium-Activated Potassium Channels Mice Mice 129 Strain Mice Inbred C57BL Mice Knockout Myocardial Infarction Myocardium Myocytes Cardiac Nitric oxide Pyrazoles Pyrimidines Reperfusion Injury
A general approach for hysteresis-free, operationally stable metal halide perovskite field-effect transistors.
Satyaprasad P Senanayak, Mojtaba Abdi-Jalebi, Varun S Kamboj, Remington Carey, Ravichandran Shivanna, Tian Tian, Guillaume Schweicher, Junzhan Wang, Nadja Giesbrecht, Daniele Di Nuzzo, Harvey E Beere, Pablo Docampo, David A Ritchie, David Fairen-Jimenez, Richard H Friend, Henning Sirringhaus
Sep 14, 2020
Despite sustained research, application of lead halide perovskites in field-effect transistors (FETs) has substantial concerns in terms of operational instabilities and hysteresis effects which are linked to its ionic nature....
Synonymous mutation in adenosine triphosphatase copper-transporting beta causes enhanced exon skipping in Wilson disease.
Marlene Panzer, André Viveiros, Benedikt Schaefer, Nadja Baumgartner, Klaus Seppi, Atbin Djamshidian, Theodor Todorov, William JH Griffiths, Eckart Schott, Markus Schuelke, Dennis Eurich, Albert Friedrich Stättermayer, Adrian Bomford, Pierre Foskett, Julia Vodopiutz, Rudolf Stauber, Elke Pertler, Bernhard Morell, Herbert Tilg, Thomas Müller, Stefan Kiechl, Raul Jimenez-Heredia, Karl Heinz Weiss, Si Houn Hahn, Andreas Janecke, Peter Ferenci, Heinz Zoller
Mar 10, 2022
Clinical presentation and proteomic signature of patients with TANGO2 mutations.
Nadja Mingirulli, Angela Pyle, Denisa Hathazi, Charlotte L Alston, Nicolai Kohlschmidt, Gina O'Grady, Leigh Waddell, Frances Evesson, Sandra BT Cooper, Christian Turner, Jennifer Duff, Ana Topf, Delia Yubero, Cristina Jou, Andrés Nascimento, Carlos Ortez, Angels García-Cazorla, Claudia Gross, Maria O'Callaghan, Saikat Santra, Maryanne A Preece, Michael Champion, Sergei Korenev, Efsthatia Chronopoulou, Majumdar Anirban, Germaine Pierre, Daniel McArthur, Kyle Thompson, Placido Navas, Antonia Ribes, Frederic Tort, Agatha Schlüter, Aurora Pujol, Raquel Montero, Georgia Sarquella, Hanns Lochmüller, Cecilia Jiménez-Mallebrera, Robert W Taylor, Rafael Artuch, Janbernd Kirschner, Sarah C Grünert, Andreas Roos, Rita Horvath
Aug 02, 2019
Transport And Golgi Organization protein 2 (TANGO2) deficiency has recently been identified as a rare metabolic disorder with a distinct clinical and biochemical phenotype of recurrent metabolic crises, hypoglycemia, lactic...
TANGO2 fatty acid metabolism metabolic encephalomyopathy MITOCHONDRIAL DYSFUNCTION proteomic analysis rhabdomyolysis Brain Diseases Metabolic Fatty Acids Female Golgi Apparatus Homozygote Humans Infant Male Mitochondrial Diseases Muscle Weakness Mutation Oxidative Phosphorylation Phenotype Proteomics Rhabdomyolysis whole genome sequencing
Cognitive functioning throughout adulthood and illness stages in individuals with psychotic disorders and their unaffected siblings.
Eva Velthorst, Josephine Mollon, Robin M Murray, Lieuwe de Haan, Inez Myin Germeys, David C Glahn, Celso Arango, Els van der Ven, Marta Di Forti, Miguel bernardo, Sinan Guloksuz, Philippe Delespaul, Gisela Mezquida, Silvia Amoretti, Julio Bobes, Pilar A Saiz, María Paz García-Portilla, José Luis Santos, Estela Jiménez-López, Julio Sanjuan, Eduardo J Aguilar, Manuel Arrojo, Angel Carracedo, Gonzalo López, Javier González-Peñas, Mara Parellada, Cem Atbaşoğlu, Meram Can Saka, Alp Üçok, Köksal Alptekin, Berna Akdede, Tolga Binbay, Vesile Altınyazar, Halis Ulaş, Berna Yalınçetin, Güvem Gümüş-Akay, Burçin Cihan Beyaz, Haldun Soygür, Eylem Şahin Cankurtaran, Semra Ulusoy Kaymak, Nadja P Maric, Marina M Mihaljevic, Sanja Andric Petrovic, Tijana Mirjanic, Cristina Marta Del-Ben, Laura Ferraro, Charlotte Gayer-Anderson, Peter B Jones, Hannah E Jongsma, James B Kirkbride, Caterina La Cascia, Antonio Lasalvia, Sarah Tosato, Pierre-Michel Llorca, Paulo Rossi Menezes, Craig Morgan, Diego Quattrone, Marco Menchetti, Jean-Paul Selten, Andrei Szöke, Ilaria Tarricone, Andrea Tortelli, Philip McGuire, Lucia Valmaggia, Matthew J Kempton, Mark van der Gaag, Anita Riecher-Rössler, Rodrigo A Bressan, Neus Barrantes-Vidal, Barnaby Nelson, Patrick McGorry, Chris Pantelis, Marie-Odile Krebs, Stephan Ruhrmann, Gabriele Sachs, Bart PF Rutten, Jim van Os, Behrooz Z Alizadeh, Therese van Amelsvoort, Agna A Bartels-Velthuis, Richard Bruggeman, Nico J van Beveren, Jurjen J Luykx, Wiepke Cahn, Claudia JP Simons, Rene S Kahn, Frederike Schirmbeck, Ruud van Winkel, EU-GEI High Risk Study, Abraham Reichenberg
Nov 24, 2020
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