2018
Repint of “Reframing autism as a behavioral syndrome and not a specific mental disorder: Implications of genetic and phenotypic heterogeneity”
Tordjman S, Cohen D, Anderson G, Botbol M, Canitano R, Coulon N, Roubertoux P. Repint of “Reframing autism as a behavioral syndrome and not a specific mental disorder: Implications of genetic and phenotypic heterogeneity”. Neuroscience & Biobehavioral Reviews 2018, 89: 132-150. PMID: 29391184, DOI: 10.1016/j.neubiorev.2018.01.014.Peer-Reviewed Original ResearchConceptsCognitive-behavioral phenotypeMental disordersAutism spectrum disorderPossible common underlying mechanismNon-categorical approachAutism phenotypeBehavioral syndromeNon-syndromic autismSpectrum disorderDevelopmental trajectoriesAutismSpecific mental disordersCommon underlying mechanismSyndromic autismDiverse genetic disordersEtiological heterogeneityDisordersClinical genetic examinationUnknown disorder
2017
Reframing autism as a behavioral syndrome and not a specific mental disorder: Implications of genetic and phenotypic heterogeneity
Tordjman S, Cohen D, Coulon N, Anderson G, Botbol M, Canitano R, Roubertoux P. Reframing autism as a behavioral syndrome and not a specific mental disorder: Implications of genetic and phenotypic heterogeneity. Neuroscience & Biobehavioral Reviews 2017, 80: 210. PMID: 28153685, DOI: 10.1016/j.neubiorev.2017.01.030.Peer-Reviewed Original ResearchCognitive-behavioral phenotypeMental disordersAutism spectrum disorderPossible common underlying mechanismNon-categorical approachAutism phenotypeBehavioral syndromeNon-syndromic autismSpectrum disorderDevelopmental trajectoriesAutismSpecific mental disordersCommon underlying mechanismSyndromic autismDiverse genetic disordersEtiological heterogeneityDisordersClinical genetic examinationUnknown disorder
2014
Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons
Griesi-Oliveira K, Acab A, Gupta AR, Sunaga DY, Chailangkarn T, Nicol X, Nunez Y, Walker MF, Murdoch JD, Sanders SJ, Fernandez TV, Ji W, Lifton RP, Vadasz E, Dietrich A, Pradhan D, Song H, Ming GL, Gu X, Haddad G, Marchetto MC, Spitzer N, Passos-Bueno MR, State MW, Muotri AR. Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons. Molecular Psychiatry 2014, 20: 1350-1365. PMID: 25385366, PMCID: PMC4427554, DOI: 10.1038/mp.2014.141.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsAntineoplastic Combined Chemotherapy ProtocolsAutistic DisorderCarboplatinCell DifferentiationCell LineCell ProliferationCells, CulturedChildDisease Models, AnimalEmbryo, MammalianEtoposideGene Expression RegulationHumansIn Vitro TechniquesInduced Pluripotent Stem CellsInhibitory Postsynaptic PotentialsMaleMiceMice, Inbred C57BLMice, TransgenicMitoxantroneMutationNeuronsPrednisoloneSignal TransductionTRPC Cation ChannelsTRPC6 Cation ChannelConceptsHuman neuronsPluripotent stem cellsNon-syndromic autismMethyl-CpGNeuronal developmentNonsynonymous mutationsDental pulp cellsFunction mutationsHaploinsufficiency leadsFunctional studiesNeuronal cellsNeuronal phenotypeGenetic variantsStem cellsFactor 1Cation channelsNon-syndromic autism spectrum disorderInsulin-like growth factor-1Incomplete penetranceMutationsRett syndromeSuch variantsAutism spectrum disorderPulp cellsGrowth factor-1
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