References
- De RubeisSBuxbaumJDGenetics and genomics of autism spectrum disorder: embracing complexityHum Mol Genet201524R1R24R3126188008
- ZafeiriouDIVerveriADafoulisVKalyvaEVargiamiEAutism spectrum disorders: the quest for genetic syndromesAm J Med Genet B Neuropsychiatr Genet2013162B432736623650212
- TorielloHVApproach to the genetic evaluation of the child with autismPediatr Clin North Am201259111312822284797
- HarleyHGRundleSAMacMillanJCSize of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophyAm J Hum Genet1993526116411748503448
- EchenneBBassezGCongenital and infantile myotonic dystrophyHandb Clin Neurol20131131387139323622362
- HoGCardamoneMFarrarMCongenital and childhood myotonic dystrophy: current aspects of disease and future directionsWorld J Clin Pediatr201544668026566479
- YoshimuraISasakiAAkimotoHYoshimuraNA case of congenital myotonic dystrophy with infantile autismNo To Hattatsu19892143793842789860
- BlondisTACookEJrKoza-TaylorPFinnTAsperger syndrome associated with Steinert’s myotonic dystrophyDev Med Child Neurol19963898408478810716
- PaulMAllington-SmithPAsperger syndrome associated with Steinert’s myotonic dystrophyDev Med Child Neurol19973942802819183272
- SteyaertJUmansSWillekensDA study of the cognitive and psychological profile in 16 children with congenital or juvenile myotonic dystrophyClin Genet19975231351419377801
- EkströmABHakenäs-PlateLSamuelssonLTuliniusMWentzEAutism spectrum conditions in myotonic dystrophy type 1: a study on 57 individuals with congenital and childhood formsAm J Med Genet B Neuropsychiatr Genet2008147B691892618228241
- WarnerJPBarronLHGoudieDA general method for the detection of large CAG repeat expansions by fluorescent PCRJ Med Genet19963312102210269004136
- MusovaZMazanecRKrepelovaAHighly unstable sequence interruptions of the CTG repeat in the myotonic dystrophy geneAm J Med Genet A2009149A71365137419514047
- SalutoABrussinoATassoneFAn enhanced polymerase chain reaction assay to detect pre- and full mutation alleles of the fragile X mental retardation 1 geneJ Mol Diagn20057560561216258159
- KamsteegEJKressWCatalliCBest practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2Eur J Hum Genet201220121203120822643181
- EchenneBRideauARoubertieASébireGRivierFLemieuxBMyotonic dystrophy type I in childhood long-term evolution in patients surviving the neonatal periodEur J Paediatr Neurol200812321022317892958
- SteyaertJde Die-SmuldersCFrynsJPGoossensEWillekensDBehavioral phenotype in childhood type of dystrophia myotonicaAm J Med Genet200096688888911121206
- KalkmanJSSchillingsMLZwartsMJvan EngelenBGBleijenbergGPsychiatric disorders appear equally in patients with myotonic dystrophy, facioscapulohumeral dystrophy, and hereditary motor and sensory neuropathy type IActa Neurol Scand2007115426527017376125
- DouniolMJacquetteACohenDPsychiatric and cognitive phenotype of childhood myotonic dystrophy type 1Dev Med Child Neurol2012541090591122861906
- SulimanRBen-DavidEShifmanSChromatin regulators, phenotypic robustness, and autism riskFront Genet201458124782891
- GladmanJTMandalMSrinivasanVMahadevanMSAge of onset of RNA toxicity influences phenotypic severity: evidence from an inducible mouse model of myotonic dystrophy (DM1)PLoS One201389e7290724039817