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Journal Abstract Search

402 related items for PubMed ID: 27839873

  • 1. Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia.
    Zech M, Boesch S, Maier EM, Borggraefe I, Vill K, Laccone F, Pilshofer V, Ceballos-Baumann A, Alhaddad B, Berutti R, Poewe W, Haack TB, Haslinger B, Strom TM, Winkelmann J.
    Am J Hum Genet; 2016 Dec 01; 99(6):1377-1387. PubMed ID: 27839873
    [Abstract] [Full Text] [Related]

  • 2. Phenotype variability and allelic heterogeneity in KMT2B-Associated disease.
    Kawarai T, Miyamoto R, Nakagawa E, Koichihara R, Sakamoto T, Mure H, Morigaki R, Koizumi H, Oki R, Montecchiani C, Caltagirone C, Orlacchio A, Hattori A, Mashimo H, Izumi Y, Mezaki T, Kumada S, Taniguchi M, Yokochi F, Saitoh S, Goto S, Kaji R.
    Parkinsonism Relat Disord; 2018 Jul 01; 52():55-61. PubMed ID: 29653907
    [Abstract] [Full Text] [Related]

  • 3. Update on KMT2B-Related Dystonia.
    Zech M, Lam DD, Winkelmann J.
    Curr Neurol Neurosci Rep; 2019 Nov 25; 19(11):92. PubMed ID: 31768667
    [Abstract] [Full Text] [Related]

  • 4. KMT2B rare missense variants in generalized dystonia.
    Zech M, Jech R, Havránková P, Fečíková A, Berutti R, Urgošík D, Kemlink D, Strom TM, Roth J, Růžička E, Winkelmann J.
    Mov Disord; 2017 Jul 25; 32(7):1087-1091. PubMed ID: 28520167
    [Abstract] [Full Text] [Related]

  • 5. Identification of a novel de novo KMT2B variant in a Greek dystonia patient via exome sequencing genotype-phenotype correlations of all published cases.
    Marogianni C, Georgouli D, Dadouli K, Ntellas P, Rikos D, Hadjigeorgiou GM, Spanaki C, Xiromerisiou G.
    Mol Biol Rep; 2021 Jan 25; 48(1):371-379. PubMed ID: 33300088
    [Abstract] [Full Text] [Related]

  • 6. Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile.
    Ciolfi A, Foroutan A, Capuano A, Pedace L, Travaglini L, Pizzi S, Andreani M, Miele E, Invernizzi F, Reale C, Panteghini C, Iascone M, Niceta M, Gavrilova RH, Schultz-Rogers L, Agolini E, Bedeschi MF, Prontera P, Garibaldi M, Galosi S, Leuzzi V, Soliveri P, Olson RJ, Zorzi GS, Garavaglia BM, Tartaglia M, Sadikovic B.
    Clin Epigenetics; 2021 Aug 11; 13(1):157. PubMed ID: 34380541
    [Abstract] [Full Text] [Related]

  • 7. Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study.
    Carecchio M, Invernizzi F, Gonzàlez-Latapi P, Panteghini C, Zorzi G, Romito L, Leuzzi V, Galosi S, Reale C, Zibordi F, Joseph AP, Topf M, Piano C, Bentivoglio AR, Girotti F, Morana P, Morana B, Kurian MA, Garavaglia B, Mencacci NE, Lubbe SJ, Nardocci N.
    Mov Disord; 2019 Oct 11; 34(10):1516-1527. PubMed ID: 31216378
    [Abstract] [Full Text] [Related]

  • 8. Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia.
    Dafsari HS, Sprute R, Wunderlich G, Daimagüler HS, Karaca E, Contreras A, Becker K, Schulze-Rhonhof M, Kiening K, Karakulak T, Kloss M, Horn A, Pauls A, Nürnberg P, Altmüller J, Thiele H, Assmann B, Koy A, Cirak S.
    J Hum Genet; 2019 Aug 11; 64(8):803-813. PubMed ID: 31165786
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  • 10. Review of the phenotype of early-onset generalised progressive dystonia due to mutations in KMT2B.
    Gorman KM, Meyer E, Kurian MA.
    Eur J Paediatr Neurol; 2018 Mar 11; 22(2):245-256. PubMed ID: 29289525
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  • 12. Child Neurology: KMT2B-Related Dystonia in a Young Child With Worsening Gait Abnormality.
    Schuberth K, Ramani PK, Beemarajan E, Veerapandiyan A.
    Neurology; 2023 Aug 15; 101(7):328-332. PubMed ID: 37041082
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  • 15. [A case of generalized dystonia DYT28 with a novel de novo mutation in the KMT2B gene].
    Hara K, Ouchi H, Hamanaka K, Miyatake S, Matsumoto N.
    Rinsho Shinkeigaku; 2022 Nov 26; 62(11):856-859. PubMed ID: 36288966
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  • 17. An atypical case of early-onset dystonia with a novel missense variant in KMT2B.
    Zhou XY, Wu JJ, Sun YM.
    Parkinsonism Relat Disord; 2019 Jun 26; 63():224-226. PubMed ID: 30253925
    [No Abstract] [Full Text] [Related]

  • 18. De-novo KMT2B mutation in a consanguineous family: 15-Year follow-up of an Afghan dystonia patient.
    Klein C, Baumann H, Olschewski L, Hanssen H, Münchau A, Ferbert A, Brüggemann N, Lohmann K.
    Parkinsonism Relat Disord; 2019 Jul 26; 64():337-339. PubMed ID: 30935829
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