共 50 条
- [1] Novel missense variants in KMT2B in segmental dystoniaMOVEMENT DISORDERS, 2018, 33 : S58 - S58Ma, J.Wan, X. H.
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- [4] 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
- [5] 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
- [6] 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
- [7] KMT2B early childhood onset dystonia presenting as failure to thriveNEUROLOGY, 2019, 92 (15)Ng, AndrewGalosi, SerenaSalz, LisaWong, TerenceChowdhury, ShimulFriedman, Jennifer
- [8] 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
- [9] A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicingMOLECULAR GENETICS & GENOMIC MEDICINE, 2022, 10 (05):Grosz, Bianca R.Tisch, StephenTchan, Michel C.Fung, Victor S. C.Darveniza, PaulFellner, AviKurian, Manju A.McLean, AlisonTomlinson, Susan E.Smyth, ReneeDevery, SophieWu, Kathy H. C.Kennerson, Marina L.Kumar, Kishore R.
- [10] New Gene Implicated in Early-Onset Generalized Dystonia: Lysine-Specific Methyltransferase 2B (KMT2B)MOVEMENT DISORDERS, 2017, 32 (03) : 395 - 395Siow, Sue-FayeKumar, Kishore R.