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Journal Abstract Search

362 related items for PubMed ID: 31768667

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  • 24. 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; 63():224-226. PubMed ID: 30253925
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  • 25. [KMT2B variants responsible for children dystonia 28: report of two cases].
    Dai LF, Ding CH, Fang T, Xie ZH, Liu TH, Zhang WH, Wang XH, Ren XT, Liu M, Tian XJ, Wu HS, Fang F.
    Zhonghua Er Ke Za Zhi; 2019 Jul 02; 57(7):564-566. PubMed ID: 31269560
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  • 27. 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 02; 64():337-339. PubMed ID: 30935829
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  • 30. Reduced histone H3K4 trimethylation in oral mucosa of patients with DYT-KMT2B.
    Sugeno N, Kumada S, Kashii H, Ikezawa J, Kawarai T, Nakamura T, Miyata A, Ishiyama S, Sato K, Yoshida S, Sekiguchi H, Hamanaka K, Miyatake S, Miyake N, Matsumoto N, Akagawa H, Kosaki K, Yoshihashi H, Hasegawa T, Aoki M.
    Parkinsonism Relat Disord; 2024 Jul 02; 124():107018. PubMed ID: 38810319
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  • 31. Pallidal deep brain stimulation response in two siblings with atypical adult-onset dystonia related to a KMT2B variant.
    Buzo EL, De la Casa-Fages B, Sánchez MG, Sánchez JRP, Carballal CF, Vidorreta JG, Sierra OM, Chicote AC, Grandas F.
    J Neurol Sci; 2022 Jul 15; 438():120295. PubMed ID: 35635862
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  • 34. Early-onset oromandibular-laryngeal dystonia and Charlot gait: New phenotype of DYT-KMT2B.
    Brás A, Ribeiro JA, Sobral F, Moreira F, Morgadinho A, Januário C.
    Neurology; 2019 May 07; 92(19):919. PubMed ID: 31061210
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  • 35. Comparison of methylation episignatures in KMT2B- and KMT2D-related human disorders.
    Lee S, Ochoa E, Barwick K, Cif L, Rodger F, Docquier F, Pérez-Dueñas B, Clark G, Martin E, Banka S, Kurian MA, Maher ER.
    Epigenomics; 2022 May 07; 14(9):537-547. PubMed ID: 35506254
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  • 36. Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing.
    Zech M, Jech R, Wagner M, Mantel T, Boesch S, Nocker M, Jochim A, Berutti R, Havránková P, Fečíková A, Kemlink D, Roth J, Strom TM, Poewe W, Růžička E, Haslinger B, Winkelmann J.
    Neurogenetics; 2017 Dec 07; 18(4):195-205. PubMed ID: 28849312
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  • 37. Late-onset KMT2B-related dystonia in an Indian patient with normal cognition, dystonic opisthotonus and lack of oromandibular and laryngeal involvement.
    Pandey S, Bhattad S, Panda AK, Mahadevan L.
    Parkinsonism Relat Disord; 2020 May 07; 74():33-35. PubMed ID: 32305686
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  • 38. [Clinical and genetic analysis of childhood-onset myoclonus dystonia syndrome caused by SGCE variants].
    Tian XJ, Ding CH, Zhang YH, Dai LF, Chen CH, Li JW, Wang X, Han TL, Wang XH, Deng J.
    Zhonghua Er Ke Za Zhi; 2020 Feb 02; 58(2):123-128. PubMed ID: 32102149
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  • 39. Teaching Video NeuroImage: Mirror Movements in a 57-Year-Old Woman With KMT2B-Related Dystonia.
    Lin J, Li C, Jiang Q, Shang H.
    Neurology; 2023 Jul 11; 101(2):e224. PubMed ID: 36797062
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  • 40. Adult-onset KMT2B-related dystonia.
    Monfrini E, Ciolfi A, Cavallieri F, Ferilli M, Soliveri P, Pedace L, Erro R, Del Sorbo F, Valzania F, Fioravanti V, Cossu G, Pellegrini M, Salviati L, Invernizzi F, Oppo V, Murgia D, Giometto B, Picillo M, Garavaglia B, Morgante F, Tartaglia M, Carecchio M, Di Fonzo A.
    Brain Commun; 2022 Jul 11; 4(6):fcac276. PubMed ID: 36483457
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