2020
Central neurogenetic signatures of the visuomotor integration system
Bueichekú E, Aznárez-Sanado M, Diez I, Uquillas F, Ortiz-Terán L, Qureshi A, Suñol M, Basaia S, Ortiz-Terán E, Pastor M, Sepulcre J. Central neurogenetic signatures of the visuomotor integration system. Proceedings Of The National Academy Of Sciences Of The United States Of America 2020, 117: 6836-6843. PMID: 32144139, PMCID: PMC7104395, DOI: 10.1073/pnas.1912429117.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAutism Spectrum DisorderBrain MappingCalcium ChannelsCohort StudiesEpilepsies, MyoclonicFemaleHumansMaleMiddle AgedMotor CortexNAV1.1 Voltage-Gated Sodium ChannelNeurodevelopmental DisordersPrader-Willi SyndromeProteinsPsychomotor PerformanceT-Box Domain ProteinsVisual CortexVisual PerceptionConceptsAutism spectrum disorderVisuomotor integrationNeurogenetic syndromesAllen Human Brain AtlasHuman cortexHuman Brain AtlasWilliams syndromeSpectrum disorderConnectome approachVisuomotor impairmentFragile XSystems neuroscienceVisuomotorHuman brainCortexFunctional impairmentBiological basisPrader-WilliBrain atlasesExpression traitsNeuronal organizationGene expression traitsDisordersImpairmentNeural development
2018
Molecular properties underlying regional vulnerability to Alzheimer’s disease pathology
Grothe M, Sepulcre J, Gonzalez-Escamilla G, Jelistratova I, Schöll M, Hansson O, Teipel S, Initiative A. Molecular properties underlying regional vulnerability to Alzheimer’s disease pathology. Brain 2018, 141: 2755-2771. PMID: 30016411, PMCID: PMC6113636, DOI: 10.1093/brain/awy189.Peer-Reviewed Original ResearchConceptsRegional gene expression profilesGene expression profilesAlzheimer's disease pathologyExpression profilesPathophysiological mechanism of Alzheimer's diseaseDisease pathologyAlzheimer's diseaseAmyloid depositsExpression levelsMechanisms of Alzheimer's diseaseHuman brain transcriptomeGene set enrichment analysisTau kinasesAlzheimer's Disease Neuroimaging InitiativeMicroarray measurementsTau proteinMAPT expressionAllen Brain AtlasGene setsAmyloid precursorBrain transcriptomeRas-ERKNeurofibrillary degenerationRegionally selective vulnerabilityMitochondrial respiration
2017
Partial volume correction for PET quantification and its impact on brain network in Alzheimer’s disease
Yang J, Hu C, Guo N, Dutta J, Vaina L, Johnson K, Sepulcre J, Fakhri G, Li Q. Partial volume correction for PET quantification and its impact on brain network in Alzheimer’s disease. Scientific Reports 2017, 7: 13035. PMID: 29026139, PMCID: PMC5638902, DOI: 10.1038/s41598-017-13339-7.Peer-Reviewed Original ResearchConceptsQuantitative accuracy of PET imagesSpatial resolution of PET scannersAccuracy of PET imagesPET scannerBrain networksPET imagingQuantitative accuracyPartial volume effectsClassification performanceImage registrationPositron emission tomography quantificationPartial volume correctionSpatial resolutionJoint entropyVolume correctionNetwork structure analysisCorrected imagesVolume effectClinical datasetsParameter settingsPositron emission tomographyClassification testsCompare network propertiesNoise sensitivityComplexity analysis of cortical surface detects changes in future Alzheimer's disease converters
de Miras J, Costumero V, Belloch V, Escudero J, Ávila C, Sepulcre J. Complexity analysis of cortical surface detects changes in future Alzheimer's disease converters. Human Brain Mapping 2017, 38: 5905-5918. PMID: 28856799, PMCID: PMC5745046, DOI: 10.1002/hbm.23773.Peer-Reviewed Original ResearchCorticolimbic structural alterations linked to health status and trait anxiety in functional neurological disorder
Perez D, Williams B, Matin N, LaFrance W, Costumero-Ramos V, Fricchione G, Sepulcre J, Keshavan M, Dickerson B. Corticolimbic structural alterations linked to health status and trait anxiety in functional neurological disorder. Journal Of Neurology Neurosurgery & Psychiatry 2017, 88: 1052. PMID: 28844071, DOI: 10.1136/jnnp-2017-316359.Peer-Reviewed Original ResearchConceptsPathophysiology of functional neurological disorderFunctional neurological disorderInsular volumeTrait anxietyWithin-group analysisSalience networkAmygdalar volumeMental healthVolumetric differencesFunctional neurological disorder cohortsEmotional problemsSevere physical health impairmentMotor FND subtypesSecondary within-group analysisRight amygdalar volumeElevated trait anxietySalience network regionsPhysical health impairmentAssociated with mental healthNeurological symptom severityHealth statusAssociated with role limitationsImpaired mental healthAffective symptomsWell-being deficits
2010
Lexical access changes in patients with multiple sclerosis: A two-year follow-up study
Sepulcre J, Peraita H, Goñi J, Arrondo G, Martincorena I, Duque B, de Mendizábal N, Masdeu J, Villoslada P. Lexical access changes in patients with multiple sclerosis: A two-year follow-up study. Journal Of Clinical And Experimental Neuropsychology 2010, 33: 169-175. PMID: 20835944, DOI: 10.1080/13803395.2010.499354.Peer-Reviewed Original ResearchConceptsConfrontation namingRetrieval of lexical informationSemantic verbal fluency taskPhonemic verbal fluency testVerbal fluency taskVerbal fluency testFluency taskTwo-year follow-up studyFluency testSwitching scoresLexical informationMultiple sclerosisMS patientsCommunication abilityHealthy controlsFollow-up studyNamesImpairmentYear follow-upConfrontationTaskScoresRetrievalSclerosisAbility
2009
Fractal dimension analysis of grey matter in multiple sclerosis
Esteban F, Sepulcre J, de Miras J, Navas J, de Mendizábal N, Goñi J, Quesada J, Bejarano B, Villoslada P. Fractal dimension analysis of grey matter in multiple sclerosis. Journal Of The Neurological Sciences 2009, 282: 67-71. PMID: 19167728, DOI: 10.1016/j.jns.2008.12.023.Peer-Reviewed Original ResearchConceptsGray matterMagnetic resonance imagingMultiple sclerosisVoxel-based morphometry approachExtensive grey matterAttack of MST1 MRI sequencesT2 lesion loadShorter disease durationWhite matter abnormalitiesGM abnormalitiesMorphometry approachGM morphologyGM atrophyMeasures of GMLong-term disabilityDisease durationHealthy controlsHuman brainMS patientsLesion loadPatientsAbnormalitiesResonance imagingMRI sequences
2008
Memory decline evolves independently of disease activity in MS
Duque B, Sepulcre J, Bejarano B, Samaranch L, Pastor P, Villoslada P. Memory decline evolves independently of disease activity in MS. Multiple Sclerosis Journal 2008, 14: 947-953. PMID: 18573817, DOI: 10.1177/1352458508089686.Peer-Reviewed Original ResearchConceptsSymbol Digit Modalities TestSymbol Digit Modalities Test performanceCognitive impairmentBrief Repeatable Battery-NeuropsychologyVerbal memory performanceNatural history of cognitive impairmentExecutive functionVerbal memoryMemory performanceMemory declineHistory of cognitive impairmentCognitive evaluationMultiple sclerosisModal testingDisease activityDisability progressionDisabilityImpairmentMemoryEDSS changeStudy entryParameters of disease activityMS patientsProspective cohortRelapse
2007
Diagnostic accuracy of retinal abnormalities in predicting disease activity in MS
Sepulcre J, Murie-Fernandez M, Salinas-Alaman A, García-Layana A, Bejarano B, Villoslada P. Diagnostic accuracy of retinal abnormalities in predicting disease activity in MS. Neurology 2007, 68: 1488-1494. PMID: 17470751, DOI: 10.1212/01.wnl.0000260612.51849.ed.Peer-Reviewed Original ResearchMeSH KeywordsAdultAtrophyCohort StudiesDisease ProgressionEarly DiagnosisFemaleHumansMagnetic Resonance ImagingMaleMiddle AgedMultiple SclerosisOptic NerveOptic NeuritisPhlebitisPredictive Value of TestsProspective StudiesRetinaRetinal DiseasesRetinal Ganglion CellsRetinal VeinTomography, Optical CoherenceConceptsRetinal nerve fiber layerRetinal nerve fiber layer atrophyRetinal nerve fiber layer thicknessRetinal periphlebitisOptical coherence tomographyOptic neuritisDisease activityMultiple sclerosisGadolinium-enhancing lesion volumeNerve fiber layer atrophyAssociated with disease activityNerve fiber layerPredicting disease activityExpanded Disability Status ScaleLonger disease durationMatter volumeBaseline MRI studyDisability Status ScaleRetinal evaluationOphthalmologic evaluationWhite matter volumeTemporal quadrantMultiple sclerosis activityRetinal abnormalitiesOCT scans