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Journal Abstract Search

157 related items for PubMed ID: 32634684

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  • 3. 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; 34(10):1516-1527. PubMed ID: 31216378
    [Abstract] [Full Text] [Related]

  • 4. Update on KMT2B-Related Dystonia.
    Zech M, Lam DD, Winkelmann J.
    Curr Neurol Neurosci Rep; 2019 Nov 25; 19(11):92. PubMed ID: 31768667
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  • 5. 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 25; 64(8):803-813. PubMed ID: 31165786
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  • 6. 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
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  • 7. A severe case of status dystonicus caused by a de novo KMT2B missense mutation.
    Nakamura S, Chinen Y, Satou K, Tokashiki T, Kumada S, Yanagi K, Kaname T, Naritomi K, Nakanishi K.
    Eur J Med Genet; 2020 Nov 25; 63(11):104057. PubMed ID: 32877735
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  • 8. [Phenotypic and genotypic spectrum of KMT2B dystonia. Description of three Colombian patients].
    Ramón-Gómez JL, Bernal-Pacheco O, Zarante-Bahamón AM, Martínez-Córdoba N, Lince-Rivera I.
    Rev Neurol; 2024 May 16; 78(10):285-291. PubMed ID: 38743022
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  • 9. 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 16; 52():55-61. PubMed ID: 29653907
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  • 11. Dystonic Tremor in Adult-onset DYT-KMT2B.
    Shimazaki R, Ikezawa J, Okiyama R, Azuma K, Akagawa H, Takahashi K.
    Intern Med; 2022 Aug 01; 61(15):2357-2360. PubMed ID: 35022352
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  • 12. 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
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  • 13. [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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  • 15. A Novel Mutation in KMT2B Gene Causing Childhood-onset Generalized Dystonia with Expanded Phenotype from India.
    Padmanabha H, Awati AM, Thomas K, K Sarma GR.
    Neurol India; 2021 Nov 26; 69(5):1400-1401. PubMed ID: 34747823
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  • 16. Early-onset generalized dystonia caused by a new mutation in the KMT2B gene: Case report.
    Rangel YA, Espinosa E.
    Biomedica; 2022 Sep 02; 42(3):429-434. PubMed ID: 36122281
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  • 17. Genotype-Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review.
    Lange LM, Junker J, Loens S, Baumann H, Olschewski L, Schaake S, Madoev H, Petkovic S, Kuhnke N, Kasten M, Westenberger A, Domingo A, Marras C, König IR, Camargos S, Ozelius LJ, Klein C, Lohmann K.
    Mov Disord; 2021 May 02; 36(5):1086-1103. PubMed ID: 33502045
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  • 18. 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
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  • 19. Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset.
    Mirza-Schreiber N, Zech M, Wilson R, Brunet T, Wagner M, Jech R, Boesch S, Škorvánek M, Necpál J, Weise D, Weber S, Mollenhauer B, Trenkwalder C, Maier EM, Borggraefe I, Vill K, Hackenberg A, Pilshofer V, Kotzaeridou U, Schwaibold EMC, Hoefele J, Waldenberger M, Gieger C, Peters A, Meitinger T, Schormair B, Winkelmann J, Oexle K.
    Brain; 2022 Apr 18; 145(2):644-654. PubMed ID: 34590685
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  • 20. 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 18; 22(2):245-256. PubMed ID: 29289525
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