2025
Chapter 53 Tourette syndrome
Abdallah S, Fasching L, Brady M, Bloch M, Lombroso P, Vaccarino F, Fernandez T. Chapter 53 Tourette syndrome. 2025, 951-962. DOI: 10.1016/b978-0-443-19176-3.00044-3.Peer-Reviewed Original ResearchTourette syndromeCortico-striatal-thalamo-cortical circuitryStriatal volume lossAdult TS patientsNeuroimaging studiesNeuropsychiatric disordersDopaminergic receptorsVocal ticsStriatal interneuronsClasses of striatal interneuronsBasal gangliaMetabolic hypofunctionEnvironmental risk factorsTS patientsAmeliorate symptomsGenetic contributionMolecular abnormalitiesPharmacological strategiesCircuitryAffecting 1Animal modelsRisk factorsInterneuronal circuitryVolume lossAbnormalities
2018
Genetic Insights Into ADHD Biology
Hayman V, Fernandez TV. Genetic Insights Into ADHD Biology. Frontiers In Psychiatry 2018, 9: 251. PMID: 29930523, PMCID: PMC5999780, DOI: 10.3389/fpsyt.2018.00251.Peer-Reviewed Original ResearchGenome-wide sequencing effortsInteractive gene networksGene discoverySequencing effortsGene networksCandidate genesGenetic insightsExpression patternsBiological pathwaysGenesBiological networksGenetic contributionBiologyPathwayImportant insightsNominal statistical significanceEnrichmentGeneticsBiological underpinningsSynthaseNitric oxide synthaseNeurobiological disorderInsightsHuman developmentExpressionChapter 23 Tourette disorder and other tic disorders
Fernandez TV, State MW, Pittenger C. Chapter 23 Tourette disorder and other tic disorders. Handbook Of Clinical Neurology 2018, 147: 343-354. PMID: 29325623, DOI: 10.1016/b978-0-444-63233-3.00023-3.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsAssociation studiesLarge-effect variantsCandidate gene association studiesGene association studiesGenomewide association studiesSubstantial genetic contributionMultiple genesDevelopmental neuropsychiatric conditionsComplex neuropsychiatric disorderGenetic variantsGenetic contributionRare mutationsTic disordersGenomewide significanceTourette's disorderGenesEnvironmental factorsAccumulated evidenceLarge patient cohortPatient cohortMotor ticsInadequate sample sizePositive findingsNeuropsychiatric conditionsNeuropsychiatric disorders
2015
Genetics of Tourette Syndrome
Lennington J, Coppola G, Fernandez T. Genetics of Tourette Syndrome. 2015, 169-189. DOI: 10.1007/978-3-319-17223-1_9.ChaptersGene networksBiological pathwaysGenetic variantsStructural genetic variantsTranscriptomic variationReplication of associationBioinformatics analysisRecent profilingSubstantial genetic contributionMultiple genesCandidate genesGene expressionComplex neuropsychiatric disorderGenesGenetic contributionRare mutationsGenetic etiologyStructural variationsPathwayRare sequencesEnvironmental factorsNeuropsychiatric disordersDevelopmental neuropsychiatric disordersTS casesGenetics
2014
The Tourette International Collaborative Genetics (TIC Genetics) study, finding the genes causing Tourette syndrome: objectives and methods
Dietrich A, Fernandez TV, King RA, State MW, Tischfield JA, Hoekstra PJ, Heiman GA, the TIC Genetics Collaborative Group. The Tourette International Collaborative Genetics (TIC Genetics) study, finding the genes causing Tourette syndrome: objectives and methods. European Child & Adolescent Psychiatry 2014, 24: 141-151. PMID: 24771252, PMCID: PMC4209328, DOI: 10.1007/s00787-014-0543-x.Peer-Reviewed Original ResearchConceptsGenetic studiesSimilar genetic architectureGene discovery effortsMultiply affected pedigreesSingle major geneParent-child triosGenetic architectureMultigenic inheritanceDe novo mutationsMajor geneGenomic researchCollaborative Genetics StudyAffected pedigreesDiscovery effortsGenetic variantsGenetic contributionGenetics ConsortiumNovo mutationsGenesRare variantsBroader scientific communityGenetic riskRecent progressGeneticsVariants
2013
Chapter Six Genetic Susceptibility and Neurotransmitters in Tourette Syndrome
Paschou P, Fernandez TV, Sharp F, Heiman GA, Hoekstra PJ. Chapter Six Genetic Susceptibility and Neurotransmitters in Tourette Syndrome. International Review Of Neurobiology 2013, 112: 155-177. PMID: 24295621, PMCID: PMC4471172, DOI: 10.1016/b978-0-12-411546-0.00006-8.ChaptersConceptsGene expression findingsExpression findingsEtiology of TSGenetic workTwo-generation pedigreeTs phenotypeMolecular baseGenetic contributionTourette syndromeLikely interactionsMultifactorial inheritanceSegregation studiesNeurotransmitter systemsAutosomal dominant disorderGenetic factorsDynamic interplayGenetic susceptibilityNew treatment optionsExtracellular dopamine levelsGamma-aminobutyric acidDominant disorderGenesTreatment optionsCortico-striatoDopamine levels
2010
L-Histidine Decarboxylase and Tourette's Syndrome
Ercan-Sencicek AG, Stillman AA, Ghosh AK, Bilguvar K, O'Roak BJ, Mason CE, Abbott T, Gupta A, King RA, Pauls DL, Tischfield JA, Heiman GA, Singer HS, Gilbert DL, Hoekstra PJ, Morgan TM, Loring E, Yasuno K, Fernandez T, Sanders S, Louvi A, Cho JH, Mane S, Colangelo CM, Biederer T, Lifton RP, Gunel M, State MW. L-Histidine Decarboxylase and Tourette's Syndrome. New England Journal Of Medicine 2010, 362: 1901-1908. PMID: 20445167, PMCID: PMC2894694, DOI: 10.1056/nejmoa0907006.Peer-Reviewed Original ResearchConceptsRare functional mutationsL-histidine decarboxylaseRate-limiting enzymeHDC geneTwo-generation pedigreeFunctional mutationsStrong genetic contributionHistamine biosynthesisAnalysis of linkageGenetic contributionModel systemRisk allelesDevelopmental neuropsychiatric disordersDecarboxylaseBiosynthesisGenesTourette syndromeMutationsAllelesEnzymeInheritanceNeuropsychiatric disordersPedigree