2024
Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics
DeSpenza T, Singh A, Allington G, Zhao S, Lee J, Kiziltug E, Prina M, Desmet N, Dang H, Fields J, Nelson-Williams C, Zhang J, Mekbib K, Dennis E, Mehta N, Duy P, Shimelis H, Walsh L, Marlier A, Deniz E, Lake E, Constable R, Hoffman E, Lifton R, Gulledge A, Fiering S, Moreno-De-Luca A, Haider S, Alper S, Jin S, Kahle K, Luikart B. Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics. Proceedings Of The National Academy Of Sciences Of The United States Of America 2024, 121: e2314702121. PMID: 38916997, PMCID: PMC11228466, DOI: 10.1073/pnas.2314702121.Peer-Reviewed Original ResearchConceptsCongenital hydrocephalusCerebral ventriculomegalyPathogenic variantsPrefrontal pyramidal neuronsGenetic subsets of patientsDevelopment of ventriculomegalyRadial gliaSubsets of patientsHigh-frequency firingNeuronal connectivityHeterozygous germline variantsAutism spectrum disorderVentricular-subventricular zoneMicrotubule dynamicsImpaired spermatogenesisCSF shuntingExcitatory driveMicrotubule-severing ATPasePyramidal neuronsDisrupt neuronal connectivityGermline variantsVentriculomegalyCSF homeostasisDisrupt microtubule dynamicsPlanar cell polarityWhat N Is N-ough for MRI-Based Animal Neuroimaging?
Grandjean J, Lake E, Pagani M, Mandino F. What N Is N-ough for MRI-Based Animal Neuroimaging? ENeuro 2024, 11: eneuro.0531-23.2024. PMID: 38499355, PMCID: PMC10950324, DOI: 10.1523/eneuro.0531-23.2024.Peer-Reviewed Original ResearchMultimodal measures of spontaneous brain activity reveal both common and divergent patterns of cortical functional organization
Vafaii H, Mandino F, Desrosiers-Grégoire G, O’Connor D, Markicevic M, Shen X, Ge X, Herman P, Hyder F, Papademetris X, Chakravarty M, Crair M, Constable R, Lake E, Pessoa L. Multimodal measures of spontaneous brain activity reveal both common and divergent patterns of cortical functional organization. Nature Communications 2024, 15: 229. PMID: 38172111, PMCID: PMC10764905, DOI: 10.1038/s41467-023-44363-z.Peer-Reviewed Original Research
2023
SMC5 Plays Independent Roles in Congenital Heart Disease and Neurodevelopmental Disability
O'Brien M, Pryzhkova M, Lake E, Mandino F, Shen X, Karnik R, Atkins A, Xu M, Ji W, Konstantino M, Brueckner M, Ment L, Khokha M, Jordan P. SMC5 Plays Independent Roles in Congenital Heart Disease and Neurodevelopmental Disability. International Journal Of Molecular Sciences 2023, 25: 430. PMID: 38203602, PMCID: PMC10779392, DOI: 10.3390/ijms25010430.Peer-Reviewed Original Research
2019
The Functional Brain Organization of an Individual Allows Prediction of Measures of Social Abilities Transdiagnostically in Autism and Attention-Deficit/Hyperactivity Disorder
Lake EMR, Finn ES, Noble SM, Vanderwal T, Shen X, Rosenberg MD, Spann MN, Chun MM, Scheinost D, Constable RT. The Functional Brain Organization of an Individual Allows Prediction of Measures of Social Abilities Transdiagnostically in Autism and Attention-Deficit/Hyperactivity Disorder. Biological Psychiatry 2019, 86: 315-326. PMID: 31010580, PMCID: PMC7311928, DOI: 10.1016/j.biopsych.2019.02.019.Peer-Reviewed Original ResearchConceptsAttention-deficit/hyperactivity disorderAutism spectrum disorderSpectrum disorderFunctional connectivity profilesHyperactivity disorderBrain organizationAutism Brain Imaging Data ExchangeConnectome-based predictive modelingAutism Diagnostic Observation ScheduleAutism spectrum disorder traitsAutism spectrum disorder severitySocial Responsiveness Scale scoresADHD Rating Scale scoresFunctional magnetic resonance imagingBrain-behavior associationsSocial Responsiveness ScaleResting-state functional magnetic resonanceFunctional brain organizationFunctional magnetic resonanceADHD traitsNeurofunctional basisADHD symptomsSplit-half analysisResponsiveness ScaleSocial abilitiesTen simple rules for predictive modeling of individual differences in neuroimaging
Scheinost D, Noble S, Horien C, Greene AS, Lake EM, Salehi M, Gao S, Shen X, O’Connor D, Barron DS, Yip SW, Rosenberg MD, Constable RT. Ten simple rules for predictive modeling of individual differences in neuroimaging. NeuroImage 2019, 193: 35-45. PMID: 30831310, PMCID: PMC6521850, DOI: 10.1016/j.neuroimage.2019.02.057.Peer-Reviewed Original Research
2016
Functional magnetic resonance imaging in chronic ischaemic stroke
Lake EM, Bazzigaluppi P, Stefanovic B. Functional magnetic resonance imaging in chronic ischaemic stroke. Philosophical Transactions Of The Royal Society B Biological Sciences 2016, 371: 20150353. PMID: 27574307, PMCID: PMC5003855, DOI: 10.1098/rstb.2015.0353.Peer-Reviewed Original ResearchConceptsFunctional magnetic resonance imagingIschemic strokeInjury progressionLevel-dependent functional magnetic resonance imagingBlood oxygenation level-dependent functional magnetic resonance imagingChronic ischemic strokeBOLD functional magnetic resonance imagingBOLD signal contrastMagnetic resonance imagingFunctional magnetic resonanceBOLD fMRI measurementsVascular reactivityStroke progressionAdult disabilityChronic stageVascular functionPreclinical modelsStroke researchNeuronal activityNew treatmentsResonance imagingVivo markerClinical researchPreclinical researchBrain functionAltered intracortical myelin staining in the dorsolateral prefrontal cortex in severe mental illness
Lake EMR, Steffler EA, Rowley CD, Sehmbi M, Minuzzi L, Frey BN, Bock NA. Altered intracortical myelin staining in the dorsolateral prefrontal cortex in severe mental illness. European Archives Of Psychiatry And Clinical Neuroscience 2016, 267: 369-376. PMID: 27629158, DOI: 10.1007/s00406-016-0730-5.Peer-Reviewed Original ResearchConceptsMajor depressive disorderSevere mental illnessMiddle frontal gyrusBipolar disorderDorsolateral prefrontal cortexMental illnessWhite matterIntracortical myelinDiagnosis of MDDPrefrontal cortexDeep white matter tractsDeep white matterTissue attenuationSuperficial white matterAmount of myelinWhite matter tractsCerebral cortexDepressive disorderFast BlueMyelinated fibersPsychiatric illnessMyelin stainingIllnessCortexCortical depth