2015
Sustained therapeutic response to riboflavin in a child with a progressive neurological condition, diagnosed by whole-exome sequencing
Shashi V, Petrovski S, Schoch K, Crimian R, Case LE, Khalid R, El-Dairi MA, Jiang YH, Mikati MA, Goldstein DB. Sustained therapeutic response to riboflavin in a child with a progressive neurological condition, diagnosed by whole-exome sequencing. Molecular Case Studies 2015, 1: a000265. PMID: 27148562, PMCID: PMC4850881, DOI: 10.1101/mcs.a000265.Peer-Reviewed Original ResearchWhole-exome sequencingTherapeutic responseImmediate clinical responseSustained therapeutic responseProgressive neurological conditionMotor weaknessClinical responseMedical managementFatal conditionCase reportSensory ataxiaBrown-VialettoProgressive conditionNeurological conditionsDisease processSyndrome 2Patient careAccurate diagnosisRiboflavin therapyVision impairmentTherapyPromising outcomesDiagnosisChildrenReport
2013
Epigenetic Therapies in Neurological Diseases
Huang H, Philpot B, Jiang Y. Epigenetic Therapies in Neurological Diseases. Epigenetics And Human Health 2013, 167-193. DOI: 10.1007/978-3-642-36827-1_8.Peer-Reviewed Original ResearchCentral nervous system disordersNervous system disordersCentral nervous systemHuman clinical trialsEpigenetic therapyPeripheral disordersClinical trialsHistone deacetylation inhibitorsSystem disordersTherapeutic strategiesPsychiatric disordersNervous systemUS FoodDrug AdministrationNeurological diseasesTherapeutic interventionsDisease pathophysiologyClinical useTherapyDisordersDeacetylation inhibitorsSuitable targetEpigenetic abnormalitiesEpigenetic modifiersCurrent understanding