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- [1] Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized DystoniaAMERICAN JOURNAL OF HUMAN GENETICS, 2016, 99 (06) : 1377 - 1387Zech, MichaelBoesch, SylviaMaier, Esther M.Borggraefe, IngoVill, KatharinaLaccone, FrancoPilshofer, VeronikaCeballos-Baumann, AndresAlhaddad, BaderBerutti, RiccardoPoewe, WernerHaack, Tobias B.Haslinger, BernhardStrom, Tim M.Winkelmann, Juliane
- [2] Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystoniaNATURE GENETICS, 2017, 49 (02) : 223 - 237Meyer, EstherCarss, Keren J.Rankin, JuliaNichols, John M. E.Grozeva, DetelinaJoseph, Agnel P.Mencacci, Niccolo E.Papandreou, ApostolosNg, JoanneBarra, SerenaNgoh, AdelineBen-Pazi, HillaWillemsen, Michel A.Arkadir, DavidBarnicoat, AngelaBergman, HagaiBhate, SanjayBoys, AmberDarin, NiklasFoulds, NicolaGutowski, NicholasHills, AlisonHoulden, HenryHurst, Jane A.Israe, ZviKaminska, MargaretLimousin, PatriciaLumsden, DanielMckee, ShaneMisra, ShibalikMohammed, Shekeeb S.Nakou, VasilikiNicolai, JoostNilsson, MagnusPall, HardevPeall, Kathryn J.Peters, Gregory B.Prabhakar, PrabReuter, Miriam S.Rump, PatrickSege, ReevalSinnema, MargjeSmith, MartinTurnpenny, PeterWhite, Susan M.Wieczorek, DagmarWiethoff, SarahWilson, Brian T.Winter, GidonWragg, Christopher
- [3] Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystoniaNature Genetics, 2017, 49 : 223 - 237Esther MeyerKeren J CarssJulia RankinJohn M E NicholsDetelina GrozevaAgnel P JosephNiccolo E MencacciApostolos PapandreouJoanne NgSerena BarralAdeline NgohHilla Ben-PaziMichel A WillemsenDavid ArkadirAngela BarnicoatHagai BergmanSanjay BhateAmber BoysNiklas DarinNicola FouldsNicholas GutowskiAlison HillsHenry HouldenJane A HurstZvi IsraelMargaret KaminskaPatricia LimousinDaniel LumsdenShane McKeeShibalik MisraShekeeb S MohammedVasiliki NakouJoost NicolaiMagnus NilssonHardev PallKathryn J PeallGregory B PetersPrab PrabhakarMiriam S ReuterPatrick RumpReeval SegelMargje SinnemaMartin SmithPeter TurnpennySusan M WhiteDagmar WieczorekSarah WiethoffBrian T WilsonGidon WinterChristopher Wragg
- [4] Early-onset generalized dystonia caused by a new mutation in the KMT2B gene: case reportBIOMEDICA, 2022, 42 (03): : 1 - 15Andrea Rangel, YullyEspinosa, Eugenia
- [5] Correction: Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystoniaNature Genetics, 2017, 49 : 969 - 969Esther MeyerKeren J CarssJulia RankinJohn M E NicholsDetelina GrozevaAgnel P JosephNiccolo E MencacciApostolos PapandreouJoanne NgSerena BarralAdeline NgohHilla Ben-PaziMichel A WillemsenDavid ArkadirAngela BarnicoatHagai BergmanSanjay BhateAmber BoysNiklas DarinNicola FouldsNicholas GutowskiAlison HillsHenry HouldenJane A HurstZvi IsraelMargaret KaminskaPatricia LimousinDaniel LumsdenShane McKeeShibalik MisraShekeeb S MohammedVasiliki NakouJoost NicolaiMagnus NilssonHardev PallKathryn J PeallGregory B PetersPrab PrabhakarMiriam S ReuterPatrick RumpReeval SegelMargje SinnemaMartin SmithPeter TurnpennySusan M WhiteDagmar WieczorekSarah WiethoffBrian T WilsonGidon WinterChristopher Wragg
- [6] An atypical case of early-onset dystonia with a novel missense variant in KMT2BPARKINSONISM & RELATED DISORDERS, 2019, 63 : 224 - 226Zhou, Xin-YueWu, Jian-JunSun, Yi-Min
- [7] Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia (vol 49, pg 223, 2017)NATURE GENETICS, 2017, 49 (06) : 969 - 969Meyer, EstherCarss, Keren J.Rankin, JuliaNichols, John M. E.Grozeva, DetelinaJoseph, Agnel P.Mencacci, Niccolo E.Papandreou, ApostolosNg, JoanneBarral, SerenaNgoh, AdelineBen-Pazi, HillaWillemsen, Michel A.Arkadir, DavidBarnicoat, AngelaBergman, HagaiBhate, SanjayBoys, AmberDarin, NiklasFoulds, NicolaGutowski, NicholasHills, AlisonHoulden, HenryHurst, Jane A.Israel, ZviKaminska, MargaretLimousin, PatriciaLumsden, DanielMckee, ShaneMisra, ShibalikMohammed, Shekeeb S.Nakou, VasilikiNicolai, JoostNilsson, MagnusPall, HardevPeall, Kathryn J.Peters, Gregory B.Prabhakar, PrabReuter, Miriam S.Rump, PatrickSegel, ReevalSinnema, MargjeSmith, MartinTurnpenny, PeterWhite, Susan M.Wieczorek, DagmarWiethoff, SarahWilson, Brian T.Winter, GidonWragg, Christopher
- [8] Review of the phenotype of early-onset generalised progressive dystonia due to mutations in KMT2BEUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 2018, 22 (02) : 245 - 256Gorman, K. M.Meyer, E.Kurian, M. A.
- [9] KMT2B early childhood onset dystonia presenting as failure to thriveNEUROLOGY, 2019, 92 (15)Ng, AndrewGalosi, SerenaSalz, LisaWong, TerenceChowdhury, ShimulFriedman, Jennifer
- [10] KMT2B Rare Missense Variants in Generalized DystoniaMOVEMENT DISORDERS, 2017, 32 (07) : 1087 - 1091Zech, MichaelJech, RobertHavrankova, PetraFecikova, AnnaBerutti, RiccardoUrgosik, DusanKemlink, DavidStrom, Tim M.Roth, JanRuzicka, EvzenWinkelmann, Juliane