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Journal Abstract Search

362 related items for PubMed ID: 31768667

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  • 6. Clinical phenotypes, genotypes and treatment in Chinese dystonia patients with KMT2B variants.
    Li XY, Dai LF, Wan XH, Guo Y, Dai Y, Li SL, Fang F, Wang XH, Zhang WH, Liu TH, Xie ZH, Fang T, Wang L, Ding CH.
    Parkinsonism Relat Disord; 2020 Aug; 77():76-82. PubMed ID: 32634684
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  • 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; 64(8):803-813. PubMed ID: 31165786
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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; 52():55-61. PubMed ID: 29653907
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  • 10. 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; 32(7):1087-1091. PubMed ID: 28520167
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  • 15. 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. 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 02; 63(11):104057. PubMed ID: 32877735
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  • 18. 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 02; 48(1):371-379. PubMed ID: 33300088
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  • 19. [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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    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Abela L, Kurian MA.
    ; 1993 Nov 26. PubMed ID: 29697234
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