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1. Full Text The Phenotype and Genotype of Mevalonate Kinase Deficiency: A Series of 114 Cases From the Eurofever Registry
by Haar, N. Ter and Jeyaratnam, J and Lachmann, H.J and Simon, A and Brogan, P.A and Doglio, M and Cattalini, M and Anton, J and Modesto, C and Quartier, P and Hoppenreijs, E.P and Martino, S and Insalaco, A and Cantarini, L and Lepore, L and Alessio, M and Calvo Penades, I and Boros, C and Consolini, R and Rigante, D and Russo, R and Pachlopnik Schmid, J and Lane, T and Martini, A and Ruperto, N and Frenkel, J and Gattorno, M and Paediat Rheumatology Int Trials and Paediatric Rheumatology International Trials Organisation and Eurofever Project
Arthritis & Rheumatology, ISSN 2326-5191, 2016, Volume 68, Issue 11, pp. 2795 - 2805
Objective Mevalonate kinase deficiency (MKD) is a rare metabolic disease characterized by recurrent inflammatory episodes. This study was undertaken to... 
MVK | HYPER-IGD | PERIODIC FEVER SYNDROME | ACIDURIA | HYPERIMMUNOGLOBULINEMIA-D | AUTOINFLAMMATORY DISEASES | MUTATIONS | SPECTRUM | RHEUMATOLOGY | Arthralgia - etiology | Uveitis - etiology | Humans | Child, Preschool | Lymphadenopathy - etiology | Male | Arthralgia - physiopathology | Arthritis - genetics | Stomatitis, Aphthous - genetics | Cerebellar Diseases - physiopathology | Amyloidosis - genetics | Skin Diseases - physiopathology | Amyloidosis - etiology | Child | Stomatitis, Aphthous - etiology | Infant, Newborn | Myalgia - physiopathology | Amyloidosis - physiopathology | Genotype | Headache - physiopathology | Vomiting - genetics | Phenotype | Diarrhea - genetics | Abdominal Pain - genetics | Adolescent | Age of Onset | Intellectual Disability - etiology | Uveitis - genetics | Vomiting - physiopathology | Conjunctivitis - etiology | Conjunctivitis - genetics | Arthritis - physiopathology | Headache - etiology | Skin Diseases - genetics | Mevalonate Kinase Deficiency - physiopathology | Myalgia - genetics | Cerebellar Diseases - etiology | Diarrhea - physiopathology | Infant | Mevalonate Kinase Deficiency - genetics | Intellectual Disability - genetics | Pharyngitis - genetics | Arthritis - etiology | Female | Registries | Retrospective Studies | Arthralgia - genetics | Pharyngitis - physiopathology | Abdominal Pain - etiology | Pharyngitis - etiology | Lymphadenopathy - genetics | Abdominal Pain - physiopathology | Myalgia - etiology | Phosphotransferases (Alcohol Group Acceptor) - genetics | Headache - genetics | Intellectual Disability - physiopathology | Skin Diseases - etiology | Cerebellar Diseases - genetics | Conjunctivitis - physiopathology | Mevalonate Kinase Deficiency - complications | Stomatitis, Aphthous - physiopathology | Vomiting - etiology | Diarrhea - etiology | Lymphadenopathy - physiopathology | Uveitis - physiopathology | Kinases | Genotype & phenotype | Index Medicus | Abridged Index Medicus
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2. Full Text Symptomatic narcolepsy, cataplexy and hypersomnia, and their implications in the hypothalamic hypocretin/orexin system
by Nishino, Seiji and Kanbayashi, Takashi
Sleep Medicine Reviews, ISSN 1087-0792, 2005, Volume 9, Issue 4, pp. 269 - 310
Human narcolepsy is a chronic sleep disorder affecting 1:2000 individuals. The disease is characterized by excessive daytime sleepiness, cataplexy and other... 
Niemann-Pick disease | Cataplexy encephalitis | Prader-Willi syndrome | Encephalitis lethargica | Paraneoplastic syndromes | Hypocretin | Brain tumor | Cerebrospinal fluid (CSF) | Multiple sclerosis (MS) | Narcolepsy | Head trauma | Acute disseminated encephalomyelitis (ADEM) | Orexin | Guillain-Barré syndrome (GBS) | narcolepsy | GUILLAIN-BARRE-SYNDROME | CEREBROSPINAL-FLUID | acute disseminated encephalomyelitis (ADEM) | CLINICAL NEUROLOGY | NIEMANN-PICK-DISEASE | MULTIPLE-SCLEROSIS | COFFIN-LOWRY-SYNDROME | ACUTE DISSEMINATED ENCEPHALOMYELITIS | paraneoplastic syndromes | OREXIN-A LEVELS | CENTRAL-NERVOUS-SYSTEM | orexin | cataplexy encephalitis | Guillain-Barre syndrome (GBS) | multiple sclerosis (MS) | cerebrospinal fluid (CSF) | brain tumor | NEUROSCIENCES | head trauma | hypocretin | encephalitis lethargica | PRADER-WILLI-SYNDROME | EXCESSIVE DAYTIME SLEEPINESS | Disorders of Excessive Somnolence - physiopathology | Humans | Craniocerebral Trauma - physiopathology | Receptors, Neuropeptide - metabolism | Intracellular Signaling Peptides and Proteins - metabolism | HLA-DQ Antigens - immunology | Disorders of Excessive Somnolence - metabolism | Myotonic Dystrophy - immunology | Narcolepsy - physiopathology | Multiple Sclerosis - physiopathology | Craniocerebral Trauma - cerebrospinal fluid | Prader-Willi Syndrome - physiopathology | Prader-Willi Syndrome - immunology | Niemann-Pick Diseases - cerebrospinal fluid | Child | Vascular Diseases - cerebrospinal fluid | Niemann-Pick Diseases - immunology | Orexins | Parkinson Disease, Postencephalitic - physiopathology | Multiple Sclerosis - cerebrospinal fluid | Parkinson Disease, Postencephalitic - cerebrospinal fluid | Coffin-Lowry Syndrome - physiopathology | Receptors, G-Protein-Coupled | Neuropeptides - metabolism | Disorders of Excessive Somnolence - immunology | Vascular Diseases - physiopathology | Orexin Receptors | Neurodegenerative Diseases - cerebrospinal fluid | Niemann-Pick Diseases - physiopathology | Hypothalamus - physiopathology | Narcolepsy - immunology | Myotonic Dystrophy - physiopathology | Hypothalamus - metabolism | Neurodegenerative Diseases - physiopathology | Narcolepsy - cerebrospinal fluid | Multiple Sclerosis - immunology | Myotonic Dystrophy - cerebrospinal fluid | HLA-DR Antigens - immunology | Coffin-Lowry Syndrome - cerebrospinal fluid | Chronic Disease | Prader-Willi Syndrome - cerebrospinal fluid | Brain | Multiple sclerosis | Parkinson's disease | Genetic disorders | Histocompatibility antigens | HLA histocompatibility antigens | Development and progression | Hypothalamic hormones | Tumors
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3. Full Text Disruption of Cortical Association Networks in Schizophrenia and Psychotic Bipolar Disorder
by Baker, Justin T and Holmes, Avram J and Masters, Grace A and Yeo, B. T. Thomas and Krienen, Fenna and Buckner, Randy L and Öngür, Dost
JAMA Psychiatry, ISSN 2168-622X, 02/2014, Volume 71, Issue 2, pp. 109 - 118
IMPORTANCE Psychotic disorders (including schizophrenia, schizoaffective disorder, and psychotic bipolar disorder) are devastating illnesses characterized by... 
DORSOLATERAL PREFRONTAL CORTEX | AUDITORY HALLUCINATIONS | CONTEXT-PROCESSING DEFICITS | PSYCHIATRY | 1ST-DEGREE RELATIVES | BRAIN NETWORKS | DYSFUNCTION | HEAD MOTION | INTRINSIC FUNCTIONAL CONNECTIVITY | DEFAULT NETWORK | WORKING-MEMORY | Connectome - instrumentation | Humans | Prefrontal Cortex - physiopathology | Bipolar Disorder - physiopathology | Magnetic Resonance Imaging - methods | Parietal Lobe - physiopathology | Cerebral Cortex - physiopathology | Psychotic Disorders - physiopathology | Association | Magnetic Resonance Imaging - instrumentation | Schizophrenia - physiopathology | Connectome - methods | Adult | Nerve Net - physiopathology | Neuroimaging | Evaluation | Usage | Psychoses | Outcome and process assessment (Health Care) | Schizophrenia | Research | Risk factors
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4. Full Text Guidelines on Management (diagnosis and treatment) of syncope - Update 2004
by Brignole, Michele and Alboni, Paolo and Benditt, David G and Bergfeldt, Lennart and Blanc, Jean-Jacques and Bloch Thomsen, Paul Erick and van Dijk, J. Gert and Fitzpatrick, Adam and Hohnloser, Stefan and Janousek, Jean and Kapoor, Wishwa and Kenny, Rose Anne and Kulakowski, Piotr and Masotti, Giulio and Moya, Angel and Raviele, Antonio and Sutton, Richard and Theodorakis, George and Ungar, Andrea and Wieling, Wouter and Task Force on Syncope, European Society of Cardiology and Hjärt-kärlinstitutionen and Sahlgrenska akademin and Göteborgs universitet and Gothenburg University and Cardiovascular Institute and Sahlgrenska Academy
Europace, ISSN 1099-5129, 11/2004, Volume 6, Issue 6, pp. 467 - 537
Syncope | European Society of Cardiology | Guidelines | NEURALLY-MEDIATED SYNCOPE | CARDIAC & CARDIOVASCULAR SYSTEMS | SUSTAINED VENTRICULAR TACHYARRHYTHMIAS | syncope | CAROTID-SINUS HYPERSENSITIVITY | MALIGNANT VASOVAGAL SYNCOPE | NEUROGENIC ORTHOSTATIC HYPOTENSION | SIGNAL-AVERAGED ELECTROCARDIOGRAM | BUNDLE-BRANCH BLOCK | HEAD-UP TILT | guidelines | TERM-FOLLOW-UP | CORONARY-ARTERY-DISEASE | Hypotension, Orthostatic - therapy | Recurrence | Syncope - therapy | Syncope, Vasovagal - therapy | Prognosis | Risk Assessment | Syncope - diagnosis | Humans | Bradycardia - physiopathology | Hypotension, Orthostatic - diagnosis | Tachycardia, Supraventricular - diagnosis | Tachycardia - physiopathology | Bradycardia - complications | Carotid Sinus - physiopathology | Syncope - physiopathology | Tachycardia, Supraventricular - therapy | Syncope - etiology | Electrocardiography | Syncope, Vasovagal - diagnosis | Massage | Tilt-Table Test | Automobile Driving | Electrophysiologic Techniques, Cardiac | Syncope, Vasovagal - physiopathology | Bradycardia/complications/physiopathology | Cardiac | Orthostatic/diagnosis/therapy | Tachycardia/physiopathology | MEDICIN OCH HÄLSOVETENSKAP | Hypotension | Syncope/diagnosis/etiology/physiopathology/therapy | Vasovagal/diagnosis/physiopathology/therapy | Tachycardia | Carotid Sinus/physiopathology | Supraventricular/diagnosis/therapy | Electrophysiologic Techniques | MEDICAL AND HEALTH SCIENCES
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5. Full Text Resting-state connectivity biomarkers define neurophysiological subtypes of depression
by Drysdale, Andrew T and Drysdale, Andrew T and Grosenick, Logan and Grosenick, Logan and Downar, Jonathan and Downar, Jonathan and Dunlop, Katharine and Dunlop, Katharine and Mansouri, Farrokh and Mansouri, Farrokh and Meng, Yue and Meng, Yue and Fetcho, Robert N and Fetcho, Robert N and Zebley, Benjamin and Zebley, Benjamin and Oathes, Desmond J and Oathes, Desmond J and Etkin, Amit and Etkin, Amit and Schatzberg, Alan F and Schatzberg, Alan F and Sudheimer, Keith and Sudheimer, Keith and Keller, Jennifer and Keller, Jennifer and Mayberg, Helen S and Mayberg, Helen S and Gunning, Faith M and Gunning, Faith M and Alexopoulos, George S and Alexopoulos, George S and Fox, Michael D and Fox, Michael D and Pascual-Leone, Alvaro and Pascual-Leone, Alvaro and Voss, Henning U and Voss, Henning U and Casey, B.J and Casey, B.J and Dubin, Marc J and Dubin, Marc J and Liston, Conor and Liston, Conor
Nature medicine, ISSN 1078-8956, 01/2017, Volume 23, Issue 1, pp. 28 - 38
Biomarkers have transformed modern medicine but remain largely elusive in psychiatry, partly because there is a weak correspondence between diagnostic labels... 
DEFAULT MODE NETWORK | MEDICINE, RESEARCH & EXPERIMENTAL | ANTIDEPRESSANT | DENDRITIC MORPHOLOGY | BIOCHEMISTRY & MOLECULAR BIOLOGY | MAJOR DEPRESSION | HEAD MOTION | INTRINSIC FUNCTIONAL CONNECTIVITY | PREFRONTAL CORTEX | CELL BIOLOGY | ORGANIZATION | TRANSCRANIAL MAGNETIC STIMULATION | AMYGDALA | Depressive Disorder, Major - physiopathology | Brain - physiopathology | Frontal Lobe - physiopathology | Humans | Male | Ventral Striatum - physiopathology | Magnetic Resonance Imaging | Functional Neuroimaging | Depressive Disorder, Major - classification | Limbic System - physiopathology | Adult | Female | Neural Pathways - physiopathology | Cluster Analysis | Care and treatment | Depression, Mental | Patient outcomes | Development and progression | Neural stimulation | Biological markers | Health aspects | Methods | Nervous system diseases | Neurophysiology | Transcranial magnetic stimulation | Mental disorders | Mental depression | Clustering | Patients | Substrates | Biotypes | Magnetic resonance imaging | Neural networks | Functional magnetic resonance imaging | Biomarkers | Bioindicators | Diagnostic systems | Magnetic fields | Psychiatry
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6. Full Text Gray matter changes related to chronic posttraumatic headache
by Obermann, Mark and Nebel, K and Schumann, C and Holle, D and Gizewski, E.R and Maschke, M and Goadsby, P.J and Diener, H.-C and Katsarava, Z
Neurology, ISSN 0028-3878, 2009, Volume 73, Issue 12, pp. 978 - 983
Background: Although up to 15% of patients with whiplash injury develop chronic headache, the basis and mechanisms of this posttraumatic headache are not well... 
RATING SCALE | MIGRAINE PATIENTS | HUMAN BRAIN | INTENSITY | DECREASE | CHRONIC BACK-PAIN | PREFRONTAL CORTEX | MODULATION | CLINICAL NEUROLOGY | VOXEL-BASED MORPHOMETRY | PLASTICITY | Humans | Middle Aged | Prefrontal Cortex - physiopathology | Atrophy - pathology | Headache Disorders - physiopathology | Male | Thalamus - pathology | Time | Neural Pathways - pathology | Hypertrophy - pathology | Hypertrophy - physiopathology | Prefrontal Cortex - pathology | Young Adult | Whiplash Injuries - complications | Neuronal Plasticity - physiology | Brain Stem - pathology | Gyrus Cinguli - pathology | Adult | Female | Neural Pathways - physiopathology | Atrophy - physiopathology | Hypertrophy - etiology | Cross-Sectional Studies | Brain - physiopathology | Headache Disorders - etiology | Cerebellum - physiopathology | Headache Disorders - pathology | Atrophy - etiology | Cerebellum - pathology | Magnetic Resonance Imaging | Image Processing, Computer-Assisted | Thalamus - physiopathology | Brain - pathology | Gyrus Cinguli - physiopathology | Aged | Brain Stem - physiopathology | Chronic Disease | Cohort Studies
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7. Full Text Bright light activates a trigeminal nociceptive pathway
by Okamoto, Keiichiro and Tashiro, Akimasa and Chang, Zheng and Bereiter, David A
Pain, ISSN 0304-3959, 05/2010, Volume 149, Issue 2, pp. 235 - 242
Bright light can cause ocular discomfort and/or pain; however, the mechanism linking luminance to trigeminal nerve activity is not known. In this study we... 
Trigeminal subnucleus caudalis | Ocular pain | Light | Photophobia | NERVE-FIBERS | GENE-RELATED PEPTIDE | RAT | SUPERIOR SALIVATORY NUCLEUS | CHOROIDAL BLOOD-FLOW | MIGRAINE | NEUROSCIENCES | PERIPHERAL GANGLIA | CLINICAL NEUROLOGY | SENSORY INNERVATION | ANTERIOR EYE SEGMENT | NEURONS | ANESTHESIOLOGY | Headache - etiology | Photophobia - etiology | Visual Pathways - physiopathology | Afferent Pathways - physiopathology | Male | Rhombencephalon - drug effects | Anesthetics, Local - pharmacology | Regional Blood Flow - drug effects | Afferent Pathways - radiation effects | Pain - etiology | Parasympathetic Nervous System - physiology | Trigeminal Caudal Nucleus - radiation effects | Trigeminal Nerve - physiopathology | Nociceptors - radiation effects | Vasodilation - physiology | Vasoconstrictor Agents - pharmacology | Ophthalmic Nerve - radiation effects | Trigeminal Ganglion - radiation effects | Ophthalmic Nerve - physiopathology | Photophobia - physiopathology | Light - adverse effects | Ophthalmic Artery - innervation | Rats | Trigeminal Nerve - radiation effects | Headache - physiopathology | Rats, Sprague-Dawley | Rhombencephalon - physiology | Trigeminal Caudal Nucleus - physiopathology | Animals | Visual Pathways - drug effects | Pain - physiopathology | Parasympathetic Nervous System - drug effects | Trigeminal Ganglion - physiopathology | Vasodilation - drug effects | Regional Blood Flow - physiology | Ophthalmic Artery - physiopathology | ocular pain | trigeminal subnucleus caudalis | light | photophobia
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8. Full Text Repeated closed head injury in mice results in sustained motor and memory deficits and chronic cellular changes
by Bolton Hall, Amanda N and Joseph, Binoy and Brelsfoard, Jennifer M and Saatman, Kathryn E
PLoS ONE, ISSN 1932-6203, 07/2016, Volume 11, Issue 7, p. e0159442
Millions of mild traumatic brain injuries (TBIs) occur every year in the United States, with many people subject to multiple head injuries that can lead to... 
MILD | ASTROCYTE ACTIVATION | OPTIC-NERVE | TRAUMATIC BRAIN-INJURY | BEHAVIORAL IMPAIRMENTS | MULTIDISCIPLINARY SCIENCES | MOUSE MODEL | COGNITIVE IMPAIRMENT | SPINAL-CORD-INJURY | CONCUSSION | AXONAL INJURY | Optic Tract - physiopathology | Memory Disorders - physiopathology | Neurons - pathology | Optic Nerve - pathology | Corpus Callosum - metabolism | Brain Concussion - pathology | Brain Concussion - physiopathology | Corpus Callosum - physiopathology | Neuroglia - pathology | Optic Tract - pathology | Cerebral Cortex - pathology | Memory Disorders - metabolism | Head Injuries, Closed - metabolism | Male | Gliosis - physiopathology | Cerebral Cortex - metabolism | Cerebral Cortex - physiopathology | Head Injuries, Closed - physiopathology | Gliosis - pathology | Neurofilament Proteins - genetics | Pyramidal Tracts - physiopathology | Pyramidal Tracts - metabolism | Neurons - metabolism | Optic Nerve - physiopathology | Pyramidal Tracts - pathology | Memory Disorders - pathology | Disease Models, Animal | Psychomotor Performance | Gene Expression | Head Injuries, Closed - pathology | Gliosis - metabolism | Mice, Inbred C57BL | Hippocampus - pathology | Optic Tract - metabolism | Hippocampus - metabolism | Animals | Corpus Callosum - pathology | Neuroglia - metabolism | Mice | Neurofilament Proteins - metabolism | Hippocampus - physiopathology | Brain Concussion - metabolism | Optic Nerve - metabolism | Complications and side effects | Care and treatment | Head injuries | Research | Memory, Disorders of | Risk factors | Intervals | Brain | Traumatic brain injury | Gait | Neuronal-glial interactions | Visual system | Histopathology | Neurodegeneration | Neurofilament protein | Physiology | Acute effects | Stains | Injuries | Head | Optic nerve | Motor ability | Abnormalities | Cortex (visual) | Inflammation | Trauma | Corpus callosum | Optic tract | Medicine | Axons | Injury prevention | Brain research | Gliosis | Chronic traumatic encephalopathy | Cell death | Spinal cord injuries | Laboratory animals | Human behavior | Apoptosis | Animal cognition
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9. Full Text Using longitudinal profiles to characterize women's symptoms through midlife: Results from a large prospective study
by Mishra, Gita D and Dobson, Annette J
Menopause, ISSN 1072-3714, 05/2012, Volume 19, Issue 5, pp. 549 - 555
Objective: The aims of this study were to identify groups of symptoms experienced by women during midlife and to determine the main profiles or trajectories... 
Vasomotor symptoms | Health symptoms | Age at menopause | Latent class analysis | Longitudinal profiles | HOT FLUSHES | HEALTH | DURATION | MENOPAUSAL TRANSITION | OBSTETRICS & GYNECOLOGY | Prospective Studies | Sweating | Urinary Incontinence - physiopathology | Heartburn - physiopathology | Humans | Menopause | Middle Aged | Factor Analysis, Statistical | Headache - physiopathology | Hemorrhoids - physiopathology | Chest Pain - physiopathology | Hot Flashes - physiopathology | Hypersensitivity - physiopathology | Fatigue - physiopathology | Female | Respiratory Tract Diseases - physiopathology | Surveys and Questionnaires | Vaginitis - physiopathology | Longitudinal Studies | Vaginal Discharge - physiopathology
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10. Full Text Human movement variability, nonlinear dynamics, and pathology: Is there a connection?
by Stergiou, Nicholas and Decker, Leslie M
Human Movement Science, ISSN 0167-9457, 10/2011, Volume 30, Issue 5, pp. 869 - 888
â–º Exploration of variability using measures for nonlinear dynamics opens new vistas for research and treatment for movement dysfunction. â–º Chaos could be a... 
Chaos | Cerebral concussion | Passive dynamic walker | Stability | Infant motor development | Anterior cruciate ligament | SPORT SCIENCES | TIME-SERIES ANALYSIS | MILD HEAD-INJURY | FRACTAL DYNAMICS | AMYOTROPHIC-LATERAL-SCLEROSIS | NEUROSCIENCES | PSYCHOLOGY, EXPERIMENTAL | PSYCHOLOGY | SIMPLEST WALKING MODEL | LONG-RANGE CORRELATIONS | TO-STRIDE VARIABILITY | SITTING POSTURAL CONTROL | Developmental Disabilities - physiopathology | Brain Concussion - physiopathology | Motor Skills - physiology | Anterior Cruciate Ligament Injuries | Brain - physiopathology | Humans | Practice (Psychology) | Infant | Psychomotor Performance - physiology | Neuromuscular Diseases - physiopathology | Nervous System - physiopathology | Movement Disorders - physiopathology | Social Behavior | Anterior Cruciate Ligament Reconstruction | Adult | Postural Balance - physiology | Motor Skills Disorders - physiopathology | Nonlinear Dynamics | Interpersonal Relations | Athletic Performance - physiology | Muscle Strength - physiology | Brain | Concussion | Child development | Locomotives
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