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- [21] A NOVEL AUTOSOMAL DOMINANT MICROCEPHALY SYNDROME DUE TO VARIANTS IN KMT2BJOURNAL OF INVESTIGATIVE MEDICINE, 2017, 65 (01) : 238 - 239Allain, M. W.Farrelly, E.Rohena, L.Stevenson, D.
- [22] 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
- [23] Novel, In-Frame KMT2B Deletion in a Patient With Apparently Isolated, Generalized DystoniaMOVEMENT DISORDERS, 2017, 32 (10) : 1495 - 1497Lange, Lara M.Tunc, SinemTennstedt, StephanieMuenchau, AlexanderKlein, ChristineAssmann, BirgitLohmann, Katja
- [24] Frequency and Phenotypic Spectrum of KMT2B Mutations in Childhood-Onset Dystonia: Results from a Single-Center Cohort StudyNEUROLOGY, 2019, 92 (15)Gonzalez-Latapi, PaulinaCarecchio, MiryamInvernizzi, FedericaPanteghini, CelesteZorzi, GiovanniRomito, LuigiLeuzzi, VincenzoGalosi, SerenaReale, ChiaraZibordi, FedericaTopf, MayaJoseph, AgnelPiano, CarlaBentivoglio, AnnaGirotti, FlorianoMorana, PaoloMorana, BenedettoKurian, ManjuGaravaglia, BarbaraMencacci, NiccoloLubbe, StevenNardocci, Nardo
- [25] Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystoniaJournal of Human Genetics, 2019, 64 : 803 - 813Hormos Salimi DafsariRosanne SpruteGilbert WunderlichHülya-Sevcan DaimagülerEzgi KaracaAdriana ContrerasKerstin BeckerMira Schulze-RhonhofKarl KieningTülay KarakulakManja KlossAnnette HornAmande PaulsPeter NürnbergJanine AltmüllerHolger ThieleBirgit AssmannAnne KoySebahattin Cirak
- [26] 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.
- [27] Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystoniaJOURNAL OF HUMAN GENETICS, 2019, 64 (08) : 803 - 813Dafsari, Hormos SalimiSprute, RosanneWunderlich, GilbertDaimagueler, Huelya-SevcanKaraca, EzgiContreras, AdrianaBecker, KerstinSchulze-Rhonhof, MiraKiening, KarlKarakulak, TulayKloss, ManjaHorn, AnnettePauls, AmandeNuernberg, PeterAltmueller, JanineThiele, HolgerAssmann, BirgitKoy, AnneCirak, Sebahattin
- [28] Generalized Dystonia Due to KMT2B Mutation in a Patient with a Previous Diagnosis of Russell Silver SyndromeMOVEMENT DISORDERS CLINICAL PRACTICE, 2023, 10 : S51 - S53Heiser, HeatherSmith, KaitlinDuis, JessicaForbes, Emily
- [29] KMT2B Is Selectively Required for Neuronal Transdifferentiation, and Its Loss Exposes Dystonia Candidate GenesCELL REPORTS, 2018, 25 (04): : 988 - 1001Barbagiovanni, GiuliaGermain, Pierre-LucZech, MichaelAtashpaz, SinaLo Riso, PietroD'Antonio-Chronowska, AgnieszkaTenderini, ErikaCaiazzo, MassimilianoBoesch, SylviaJech, RobertHaslinger, BernhardBroccoli, VaniaStewart, Adrian FrancisWinkelmann, JulianeTesta, Giuseppe
- [30] 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