Search results for " mapping"

showing 10 items of 1411 documents

The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients

2012

International audience; The 2q37 locus is one of the most commonly deleted subtelomeric regions. Such a deletion has been identified in >100 patients by telomeric fluorescence in situ hybridization (FISH) analysis and, less frequently, by array-based comparative genomic hybridization (array-CGH). A recognizable ‘2q37-deletion syndrome’ or Albright’s hereditary osteodystrophy-like syndrome has been previously described. To better map the deletion and further refine this deletional syndrome, we formed a collaboration with the Association of French Language Cytogeneticists to collect 14 new intellectually deficient patients with a distal or interstitial 2q37 deletion characterized by FISH and …

AdultMaleCandidate geneAdolescentDNA Copy Number Variations[SDV]Life Sciences [q-bio]Chromosome DisordersLocus (genetics)BiologyFibrous Dysplasia PolyostoticBioinformaticsArticleYoung Adult03 medical and health sciences0302 clinical medicineIntellectual DisabilityGeneticsmedicineHumansChildGenetic Association StudiesGenetics (clinical)030304 developmental biologyKIF1AGeneticsBehaviorComparative Genomic Hybridization0303 health sciences[ SDV ] Life Sciences [q-bio]medicine.diagnostic_testBrachydactylyBrachydactylyChromosome MappingOverweightSubtelomeremedicine.disease[SDV] Life Sciences [q-bio]Child PreschoolChromosomes Human Pair 2AutismFemaleChromosome Deletion030217 neurology & neurosurgeryComparative genomic hybridizationFluorescence in situ hybridizationEuropean Journal of Human Genetics
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Structure, chromosomal localization, and brain expression of human Cx36 gene

1999

Rat connexin-36 (Cx36) is the first gap junction protein shown to be expressed predominantly in neuronal cells of the mammalian central nervous system. As a prerequisite for studies devoted to the investigation of the possible role of this connexin in human neurological diseases, we report the cloning and sequencing of the human Cx36 gene, its chromosomal localization, and its pattern of expression in the human brain analyzed by radioactive in situ hybridization. The determination of the human gene sequence revealed that the coding sequence of Cx36 is highly conserved (98% identity at the protein level with the mouse and rat Cx36 and 80% with the ortholog perch and skate Cx35), and that the…

AdultMaleCandidate geneAdolescentgenetic structuresMolecular Sequence DataIn situ hybridizationBiologyHippocampal formationPolymerase Chain ReactionConnexinsMiceCellular and Molecular NeurosciencemedicineAnimalsHumansCoding regionAmino Acid SequenceSkates FishCloning MolecularEye ProteinsPeptide Chain Initiation TranslationalGeneIn Situ Hybridization FluorescenceChromosomes Human Pair 15Genomic LibrarySequence Homology Amino Acidmedicine.diagnostic_testBrainChromosome MappingHuman brainMiddle AgedMolecular biologyIntronsRatsmedicine.anatomical_structureSpinal CordOrgan SpecificityPerchesCerebellar cortexFemalesense organsSequence AlignmentFluorescence in situ hybridizationJournal of Neuroscience Research
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Frontal hypoactivation and alterations in the reward-system during humor processing in patients with schizophrenia spectrum disorders

2018

Humor is a ubiquitous human ability with important implications for both social and emotional functioning. Patients with neuropsychiatric disorders, such as schizophrenia, experience difficulties in the comprehension and appreciation of humor. However, the specific neural mechanisms underlying these deficits are unknown. In the current study, we sought to elucidate the neural correlates of humor processing in patients with schizophrenia spectrum disorders (SSD). Functional Magnetic Resonance Imaging (fMRI) was used in thirty-one patients with SSD and a control group, performing a humor processing paradigm. Both regional brain activation and parametric modulation of brain responses via subje…

AdultMaleCaudate nucleusNeuropsychological Testsbehavioral disciplines and activities050105 experimental psychology03 medical and health sciences0302 clinical medicineRewardNeural PathwaysmedicineHumansMiddle frontal gyrus0501 psychology and cognitive sciencesPrefrontal cortexBiological PsychiatryAnterior cingulate cortexBrain Mappingmedicine.diagnostic_testbusiness.industry05 social sciencesBrainmedicine.diseaseMagnetic Resonance ImagingPsychiatry and Mental healthmedicine.anatomical_structurePsychotic Disordersnervous systemSuperior frontal gyrusSchizophreniaSchizophreniaFemaleSchizophrenic PsychologyComprehensionFunctional magnetic resonance imagingbusinessNeuroscienceInsula030217 neurology & neurosurgeryWit and Humor as TopicSchizophrenia Research
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Cognitive and Motor Loops of the Human Cerebro-cerebellar System

2010

Abstract We applied fMRI and diffusion-weighted MRI to study the segregation of cognitive and motor functions in the human cerebro-cerebellar system. Our fMRI results show that a load increase in a nonverbal auditory working memory task is associated with enhanced brain activity in the parietal, dorsal premotor, and lateral prefrontal cortices and in lobules VII–VIII of the posterior cerebellum, whereas a sensory-motor control task activated the motor/somatosensory, medial prefrontal, and posterior cingulate cortices and lobules V/VI of the anterior cerebellum. The load-dependent activity in the crus I/II had a specific relationship with cognitive performance: This activity correlated negat…

AdultMaleCerebellumBrain activity and meditationMovementCognitive NeuroscienceStatistics as TopicSomatosensory systemFunctional Laterality050105 experimental psychologyYoung Adult03 medical and health sciencesCognition0302 clinical medicineCerebellumNeural PathwaysImage Processing Computer-AssistedReaction TimemedicineHumansta3180501 psychology and cognitive sciencesEffects of sleep deprivation on cognitive performanceta116ta515ta217Cerebral Cortexta113Brain Mappingta114Working memory05 social sciencesCognitionMagnetic Resonance ImagingOxygenDiffusion Magnetic Resonance Imagingmedicine.anatomical_structureAcoustic Stimulationnervous systemFemalePsychologyNeuroscience030217 neurology & neurosurgeryCognitive loadTractographyJournal of Cognitive Neuroscience
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Changes in cerebellar activation pattern during two successive sequences of saccades

2002

The changes in the cerebellar activation pattern of two successive fMRI scanning runs were determined for visually guided to‐and‐fro saccades in 12 healthy volunteers familiar with the study paradigm. Group and single subject‐analyses revealed a constant activation of the paramedian cerebellar vermis (uvula, tonsils, tuber, folium/declive), which reflects constant ocular motor activity in both runs. A significant decrease in activation of the cerebellar hemispheres found in the second run is best explained by either a decrease in attention or the effects of motor optimization and learning. The significant, systematic changes of the cerebellar activation pattern in two successive runs were n…

AdultMaleCerebellumOcular motorAction PotentialsStimulationFunctional LateralityActivation patternCerebellar CortexReaction TimeSaccadesmedicineHumansRadiology Nuclear Medicine and imagingFastigial nucleusBrain MappingRadiological and Ultrasound TechnologyVisually guidedEye movementOriginal ArticlesMiddle AgedMagnetic Resonance Imagingmedicine.anatomical_structureNeurologyCerebrovascular CirculationCerebellar vermisFemaleNeurology (clinical)AnatomyPsychologyNeurosciencePhotic StimulationPsychomotor PerformanceHuman Brain Mapping
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Cerebellar speech representation: lesion topography in dysarthria as derived from cerebellar ischemia and functional magnetic resonance imaging.

2003

Background Lesion topography and the pathophysiological background of dysarthria due to focal cerebellar lesions have not yet been fully clarified. Objectives To investigate the lesion topography of dysarthria due to cerebellar ischemia and evaluate brainstem functions. Design Case studies. Patients Eighteen right-handed patients with sudden-onset dysarthria and cerebellar ischemia with and without brainstem involvement and 19 healthy, right-handed, monolingual, German-speaking volunteers. Methods In patients, we used multimodal electrophysiologic techniques to investigate brainstem functions. Functional magnetic resonance imaging (MRI) was performed in the 19 healthy volunteers. Activation…

AdultMaleCerebellumPathologymedicine.medical_specialtyBrain IschemiaDysarthriaArts and Humanities (miscellaneous)Tonguemedicine.arteryCerebellar hemisphereCerebellumMedicineHumansSpeechSuperior cerebellar arteryLateral medullary syndromeBrain MappingMouthbusiness.industryDysarthriamedicine.diseaseMagnetic Resonance ImagingAnterior inferior cerebellar arteryElectrophysiologyPosterior inferior cerebellar arterymedicine.anatomical_structurenervous systemFemaleNeurology (clinical)Brainstemmedicine.symptombusinessBrain StemArchives of neurology
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Anterior limbic alpha-like activity: a low resolution electromagnetic tomography study with lorazepam challenge

2005

Summary Objective To verify findings of an independently regulated anterior limbic alpha band source. Methods In a randomised cross-over study, the spontaneous EEG was recorded in nine healthy subjects after i.v. lorazepam or placebo. Intracerebral current densities within classical frequency bands were estimated with low resolution electromagnetic tomography [LORETA] and compared between groups with t -statistical parametric mapping [SPM{ t }]. A region-of-interest [ROI] based method was used to compare frontal and occipital alpha band activity changes. Results Irrespective of treatment group, local maxima of alpha band power were localised both in the occipital lobe, Brodman area [BA] 18,…

AdultMaleCingulate cortexFrequency bandAlpha (ethology)ElectroencephalographyLorazepamStatistical parametric mappingStatistics NonparametricElectromagnetic FieldsNuclear magnetic resonanceLimbic systemPhysiology (medical)mental disordersLimbic SystemmedicineHumansSingle-Blind MethodAnterior cingulate cortexPhysicsCross-Over Studiesmedicine.diagnostic_testSensory SystemsAlpha Rhythmmedicine.anatomical_structureNeurologyInjections IntravenousNeurology (clinical)Occipital lobeNeuroscienceClinical Neurophysiology
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Spatial resolution of fMRI in the human parasylvian cortex: Comparison of somatosensory and auditory activation

2005

Abstract In spite of its outstanding spatial resolution, the biological resolution of functional MRI may be worse because it depends on the vascular architecture of the brain. Here, we compared the activation patterns of the secondary somatosensory and parietal ventral cortex (SII/PV) with that of the primary auditory cortex and adjacent areas (AI/AII). These two brain regions are located immediately adjacent to each other on opposite banks of the Sylvian fissure, and are anatomically and functionally distinct. In 12 healthy subjects, SII/PV was activated by pneumatic tactile stimuli applied to the index finger (0.5 cm 2 contact area, 4 bar pressure), and AI/AII by amplitude-modulated tones…

AdultMaleCognitive NeuroscienceAuditory cortexSomatosensory systemcomputer.software_genreSensitivity and SpecificityFingersImaging Three-DimensionalReference ValuesVoxelEvoked Potentials SomatosensoryParietal LobeCortex (anatomy)Image Processing Computer-AssistedmedicineHumansDominance CerebralAuditory CortexAnalysis of VarianceBrain MappingSecondary somatosensory cortexCerebral AqueductSomatosensory CortexAnatomyIndex fingerSulcusImage EnhancementMagnetic Resonance Imagingmedicine.anatomical_structureAcoustic StimulationNeurologyTouchSpatial normalizationEvoked Potentials AuditoryFemalePsychologyNeurosciencecomputerNeuroImage
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Automatic numerical-spatial association in synaesthesia: An fMRI investigation

2016

A horizontal mental number line (MNL) is used to describe how quantities are represented across space. In humans, the neural correlates associated with such a representation are found in different areas of the posterior parietal cortex, especially, the intraparietal sulcus (IPS). In a phenomenon known as number-space synaesthesia, individuals visualise numbers in specific spatial locations. The experience of a MNL for number-space synaesthetes is explicit, idiosyncratic, and highly stable over time. It remains an open question whether the mechanisms underlying numerical-spatial association are shared by synaesthetes and nonsynaesthetes. We address the neural correlates of number-space assoc…

AdultMaleCognitive NeuroscienceAutomaticityPosterior parietal cortexExperimental and Cognitive PsychologyIntraparietal sulcusNeuropsychological TestsBrain mapping050105 experimental psychologyDevelopmental psychologyAssociationPerceptual Disorders03 medical and health sciencesBehavioral Neuroscience0302 clinical medicineSupramarginal gyrusReaction TimemedicineHumans0501 psychology and cognitive sciencesAssociation (psychology)Brain MappingNeural correlates of consciousnessmedicine.diagnostic_test05 social sciencesBrainMathematical ConceptsMagnetic Resonance ImagingPattern Recognition VisualSpace PerceptionFunctional magnetic resonance imagingPsychologySynesthesia030217 neurology & neurosurgeryCognitive psychologyNeuropsychologia
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Distributed BOLD-response in association cortex vector state space predicts reaction time during selective attention.

2006

Human cortical information processing is thought to be dominated by distributed activity in vector state space (Churchland, P.S., Sejnowski, T.J., 1992. The Computational Brain. MIT Press, Cambridge.). In principle, it should be possible to quantify distributed brain activation with independent component analysis (ICA) through vector-based decomposition, i.e., through a separation of a mixture of sources. Using event-related functional magnetic resonance imaging (fMRI) during a selective attention-requiring task (visual oddball), we explored how the number of independent components within activated cortical areas is related to reaction time. Prior to ICA, the activated cortical areas were d…

AdultMaleCognitive NeuroscienceBrain mappingImaging Three-DimensionalCortex (anatomy)medicineImage Processing Computer-AssistedReaction TimeHumansAttentionPrefrontal cortexDominance CerebralOddball paradigmCerebral CortexNeuronsBrain MappingPrincipal Component AnalysisBasis (linear algebra)medicine.diagnostic_testImage EnhancementIndependent component analysisEvent-Related Potentials P300Magnetic Resonance ImagingOxygenmedicine.anatomical_structureNeurologyPattern Recognition VisualCerebral cortexLinear ModelsFemaleNerve NetPsychologyFunctional magnetic resonance imagingNeuroscienceNeuroImage
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