Search results for "neuron"

showing 10 items of 2611 documents

A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine

2018

ObjectiveTo describe a large series of BIN1 patients, in which a novel founder mutation in the Roma population of southern Spain has been identified.MethodsPatients diagnosed with centronuclear myopathy (CNM) at 5 major reference centers for neuromuscular disease in Spain (n = 53) were screened for BIN1 mutations. Clinical, histologic, radiologic, and genetic features were analyzed.ResultsEighteen patients from 13 families carried the p.Arg234Cys variant; 16 of them were homozygous for it and 2 had compound heterozygous p.Arg234Cys/p.Arg145Cys mutations. Both BIN1 variants have only been identified in Roma, causing 100% of CNM in this ethnic group in our cohort. The haplotype analysis confi…

Adult0301 basic medicinemedicine.medical_specialtyRomaNeuromuscular diseaseAdolescentPopulationMallory BodiesCompound heterozygosityArticleMuscular DystrophiesCohort StudiesYoung Adult03 medical and health sciences0302 clinical medicineInternal medicinemedicineHumansProspective StudiesCentronuclear myopathyChildeducationProspective cohort studyAdaptor Proteins Signal TransducingRetrospective Studieseducation.field_of_studybusiness.industryTumor Suppressor ProteinsHaplotypeNuclear ProteinsRetrospective cohort studyMiddle Agedmedicine.diseaseFounder EffectPhenotype030104 developmental biologyScoliosisSpainMutation[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]Neurology (clinical)business030217 neurology & neurosurgeryMyopathies Structural CongenitalFounder effect
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One year of training with FES has impressive beneficial effects in a 36-year-old woman with spinal cord injury

2015

International audience; CONTEXT:Reductions of muscular and cardiorespiratory functions are often observed in people with spinal cord injury (SCI) and several studies demonstrated the benefits of aerobic and strengthening exercise training for this population. Functional Electrical Stimulation (FES) of paralyzed muscles has been proposed as a strategy to assist patients in executing functional movement but its utilization during long durations has never been investigated. The purpose of the present study was to assess the effects of a one-year training program with FES (strengthening and rowing) in one subject with SCI. Evoked torque, quadriceps muscle thickness, aerobic exercise capacity an…

Adult030506 rehabilitationmedicine.medical_specialtyPopulationContext (language use)Electric Stimulation Therapy03 medical and health sciences0302 clinical medicinePhysical medicine and rehabilitationBone DensityExercise capacityMedicineAerobic exerciseFunctional electrical stimulationHumansMuscle StrengtheducationSpinal cord injuryResearch ArticlesSpinal Cord Injurieseducation.field_of_studybusiness.industryVO2 maxCardiorespiratory fitnessmedicine.diseaseExercise TherapyElectrical stimulation[ SDV.NEU ] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]Muscle thickness[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]FemaleNeurology (clinical)0305 other medical sciencebusinessVentilatory threshold030217 neurology & neurosurgery
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Evidence of a contralateral motor influence on reciprocal inhibition in man

1992

The role of contralateral movement on both H reflex and reciprocal inhibition was studied. In normal men H reflex was induced by median nerve stimulation. Reciprocal inhibition was achieved through stimulation of the antagonist radial nerve. On this basis the effects of contralateral arm movement were analized. Furthermore the putative influence of exteroceptive origin was also verified by means of digit stimulation. Results showed that contralateral arm movement did not affect H reflex amplitude; on the contrary, it was able to enhance reciprocal inhibition induced by extensors on flexors. Study of cutaneous afferents demonstrated that contralateral digit stimulation failed to elicit modif…

AdultAdolescentInterneuronMovementWithdrawal reflexStimulationStimulus (physiology)H-ReflexInterneuronsSkin Physiological PhenomenaReflexHumansMedicineBiological PsychiatryRadial nerveSkinMotor NeuronsReflex Monosynapticbusiness.industryGeneral NeuroscienceAntagonistReciprocal inhibitionNeural InhibitionElectric StimulationPsychiatry and Mental healthmedicine.anatomical_structureNeurologyRadial NerveNeurology (clinical)H-reflexbusinessNeuroscienceJournal of Neural Transmission - Parkinson's Disease and Dementia Section
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Transdiagnostic dimensions of psychopathology at first episode psychosis: findings from the multinational EU-GEI study.

2019

Background\ud The value of the nosological distinction between non-affective and affective psychosis has frequently been challenged. We aimed to investigate the transdiagnostic dimensional structure and associated characteristics of psychopathology at First Episode Psychosis (FEP). Regardless of diagnostic categories, we expected that positive symptoms occurred more frequently in ethnic minority groups and in more densely populated environments, and that negative symptoms were associated with indices of neurodevelopmental impairment.\ud \ud Method\ud This study included 2182 FEP individuals recruited across six countries, as part of the EUropean network of national schizophrenia networks st…

AdultAffective Disorders PsychoticMaleBipolar Disorder[SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/NeurobiologyBifactor modelPsicosiModels Psychologicalsymptom dimensionsPathological psychologyYoung AdultSettore M-PSI/08 - Psicologia Clinicafirst episode psychosisSettore MED/48 -Scienze Infermierist. e Tecn. Neuro-Psichiatriche e Riabilitat.HumansSettore MED/25 - PsichiatriaComputingMilieux_MISCELLANEOUSPsychiatric Status Rating ScalesPsychopathology[SDV.NEU.PC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Psychology and behaviorDepression[SCCO.NEUR]Cognitive science/NeurosciencePsychoses[SDV.NEU.SC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Cognitive SciencesBifactor model; diagnostic categories; first episode psychosis; psychopathology; symptom dimensionsOriginal Articlespsychopathologydiagnostic categoriesPsicopatologiaEuropediagnostic categoriePsychotic DisordersROC Curvefirst episode psychosiSchizophreniaFemaleSchizophrenic PsychologyEsquizofrènia
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Redox lipidomics to better understand brain aging and function

2019

Human prefrontal cortex (PFC) is a recently evolutionary emerged brain region involved in cognitive functions. Human cognitive abilities decline during aging. Yet the molecular mechanisms that sustain the preservation or deterioration of neurons and PFC functions are unknown. In this review, we focus on the role of lipids in human PFC aging. As the evolution of brain lipid concentrations is particularly accelerated in the human PFC, conferring a specific lipid profile, a brief approach to the lipidome of PFC was consider along with the relationship between lipids and lipoxidative damage, and the role of lipids in human PFC aging. In addition, the specific targets of lipoxidative damage in h…

AdultAgingPrefrontal CortexGlycerophospholipidsBiologymedicine.disease_causeBiochemistryCognitionPhysiology (medical)LipidomicsmedicineHumansCognitive DysfunctionCognitive declineMitochondrionPrefrontal cortexExerciseCaloric RestrictionNeuronsSphingolipidsCognitionEnergy metabolismMiddle AgedLipidomeAdvanced lipoxidation end productsLipid MetabolismCytoskeletal ProteinsOxidative StressProteostasisnervous systemLipidomicsFatty Acids UnsaturatedEnergy MetabolismNeuroscienceFunction (biology)Oxidative stress
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δ 1‐OPIOID receptor‐mediated controlofacetylcholine (ACh) release in human neocortex slices

1998

In slices of human neocortex, prelabelled with [3H]-choline, the release of [3H]-acetylcholine reflects the evoked release of endogenous acetylcholine which was elicited by the same electrical stimulation paradigm. [3H]-Acetylcholine release was depressed by the delta-opioid receptor agonist D-Pen2-D-Pen5-enkephalin. When the nerve endings were depolarized by elevating extracellular potassium the evoked [3H]-acetylcholine release was similarly depressed by D-Pen2-D-Pen5-enkephalin in the absence, but not in the presence, of tetrodotoxin which blocks action potential propagation. Therefore, the delta-opioid receptor inhibiting [3H]-acetylcholine release should not be located to cholinergic n…

AdultAgonistmedicine.medical_specialtymedicine.drug_classNarcotic AntagonistsNeocortexTetrodotoxinIn Vitro TechniquesOctreotideBenzylidene Compoundschemistry.chemical_compoundDevelopmental NeuroscienceInterneuronsOpioid receptorReceptors Opioid deltaInternal medicinemedicineHumansReceptorAgedAged 80 and overNeocortexEnkephalinsMiddle AgedReceptor antagonistAcetylcholineElectric StimulationNaltrexoneEndocrinologymedicine.anatomical_structurenervous systemchemistryTetrodotoxinCholinergicEnkephalin D-Penicillamine (25)-AcetylcholineDevelopmental Biologymedicine.drugInternational Journal of Developmental Neuroscience
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Topographic heterogeneity of amyloid B-protein epitopes in brains with various forms of neuronal ceroid lipofuscinoses suggesting defective processin…

1990

To verify our hypothesis of defective protease inhibitor domains that are encoded by abnormal processing of amyloid precursor protein (APP) in brains of patients with neuronal ceroid lipofuscinoses (NCL), immunohistochemical and cytochemical studies were performed with monoclonal antibodies (mAbs) directed against various domains of APP. For the studies, 22 autopsy brains were used: 12 with different forms of NCL, and 10 control brains. The staining procedure for the avidin-biotin complex (ABC) technique and the postembedding gold-labelled procedure for electron microscopy (EM) were employed. Of all mAbs used for the study, only mAbs generated against amyloid B-protein bound to neural tissu…

AdultAmyloidPathologymedicine.medical_specialtyBatten diseaseAdolescentAmyloidImmunocytochemistryPathology and Forensic MedicineLipofuscinEpitopes03 medical and health sciencesCellular and Molecular Neuroscience0302 clinical medicineNeuronal Ceroid-LipofuscinosesAmyloid precursor proteinmedicineHumansSenile plaquesChildAged030304 developmental biology0303 health sciencesAmyloid beta-PeptidesbiologyAntibodies MonoclonalBrainInfantMiddle Agedmedicine.diseaseImmunohistochemistryMolecular biology3. Good healthChild Preschoolbiology.proteinNeuronal ceroid lipofuscinosisNeurology (clinical)Protein Processing Post-Translational030217 neurology & neurosurgeryImmunostainingActa Neuropathologica
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Mismatch negativity (MMN) as a tool for investigating auditory discrimination and sensory memory in infants and children

2000

For decades behavioral methods, such as the head-turning or sucking paradigms, have been the primary methods to investigate auditory discrimination, learning and the function of sensory memory in infancy and early childhood. During recent years, however, a new method for investigating these issues in children has emerged. This method makes use of the mismatch negativity (MMN), the brain's automatic change-detection response, which has been used intensively in both basic and clinical studies in adults for twenty years. This review demonstrates that, unlike many other components of event-related potentials, the MMN is developmentally quite stable and can be obtained even from pre-term infants…

AdultAuditory perceptionMismatch negativityEngrambehavioral disciplines and activities050105 experimental psychologyDevelopmental psychology03 medical and health sciencesDiscrimination Psychological0302 clinical medicineAudiometryMemoryEvent-related potentialPhysiology (medical)NeuroplasticityReaction TimemedicineHumans0501 psychology and cognitive sciencesChildNeuronal Plasticitymedicine.diagnostic_testMemoriaSensory memory05 social sciencesBrainInfantSensory SystemsNeurologyAuditory PerceptionEvoked Potentials AuditoryNeurology (clinical)AudiometryPsychologypsychological phenomena and processes030217 neurology & neurosurgeryClinical Neurophysiology
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Unique astrocyte ribbon in adult human brain contains neural stem cells but lacks chain migration

2003

The subventricular zone (SVZ) is a principal source of adult neural stem cells in the rodent brain, generating thousands of olfactory bulb neurons every day. If the adult human brain contains a comparable germinal region, this could have considerable implications for future neuroregenerative therapy. Stem cells have been isolated from the human brain, but the identity, organization and function of adult neural stem cells in the human SVZ are unknown. Here we describe a ribbon of SVZ astrocytes lining the lateral ventricles of the adult human brain that proliferate in vivo and behave as multipotent progenitor cells in vitro. This astrocytic ribbon has not been observed in other vertebrates s…

AdultBiopsyanimal diseasesSubventricular zoneBiologyCell MovementNeurospheremedicineHumansCells CulturedNeuronsMultidisciplinaryMultipotent Stem CellsNeurogenesisBrainCell DifferentiationAnatomyOlfactory BulbNeural stem cellNeuroepithelial cellNeuropoiesismedicine.anatomical_structurenervous systemAstrocytesAutopsyStem cellNeuroscienceCell DivisionAdult stem cellNature
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PSA-NCAM expression in the human prefrontal cortex.

2006

The prefrontal cortex (PFC) of adult rodents is capable of undergoing neuronal remodeling and neuroimaging studies in humans have revealed that the structure of this region also appears affected in different psychiatric disorders. However, the cellular mechanisms underlying this plasticity are still unclear. The polysialylated form of the neural cell adhesion molecule (PSA-NCAM) may mediate these structural changes through its anti-adhesive properties. PSA-NCAM participates in neurite outgrowth and synaptogenesis and changes in its expression occur parallel to neuronal remodeling in certain regions of the adult brain. PSA-NCAM is expressed in the hippocampus and temporal cortex of adult hum…

AdultCalbindinsNeuropilInterneuronHippocampusFluorescent Antibody TechniquePrefrontal CortexNeural Cell Adhesion Molecule L1RodentiaCellular and Molecular NeuroscienceS100 Calcium Binding Protein GSpecies SpecificityInterneuronsNeuroplasticityNeuropilmedicineCell AdhesionAnimalsHumansPrefrontal cortexAgedTemporal cortexDepressive DisorderNeuronal PlasticitybiologyDendritesMiddle AgedAxonsDoublecortinmedicine.anatomical_structurenervous systembiology.proteinSialic AcidsNeural cell adhesion moleculePsychologyNeuroscienceJournal of chemical neuroanatomy
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