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Journal Abstract Search

244 related items for PubMed ID: 35022352

  • 21.
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  • 22. 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
    [No Abstract] [Full Text] [Related]

  • 23. 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
    [No Abstract] [Full Text] [Related]

  • 24. 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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  • 26. 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 11; 32(7):1087-1091. PubMed ID: 28520167
    [Abstract] [Full Text] [Related]

  • 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 11; 64():337-339. PubMed ID: 30935829
    [No Abstract] [Full Text] [Related]

  • 28.
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  • 29. 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 11; 63(11):104057. PubMed ID: 32877735
    [Abstract] [Full Text] [Related]

  • 30. 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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  • 31.
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  • 32. Phenotype of the DYT1 mutation in the TOR1A gene in a Polish population of patients with dystonia. A preliminary report.
    Gajos A, Piaskowski S, Sławek J, Ochudło S, Opala G, Łobińska A, Honczarenko K, Budrewicz S, Koszewicz M, Pełszyńska B, Liberski PP, Bogucki A.
    Neurol Neurochir Pol; 2007 Aug 11; 41(6):487-94. PubMed ID: 18224570
    [Abstract] [Full Text] [Related]

  • 33. 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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  • 34.
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  • 38. Overview of primary monogenic dystonia.
    Spatola M, Wider C.
    Parkinsonism Relat Disord; 2012 Jan 18; 18 Suppl 1():S158-61. PubMed ID: 22166420
    [Abstract] [Full Text] [Related]

  • 39. Isolated dystonia: clinical and genetic updates.
    Domingo A, Yadav R, Ozelius LJ.
    J Neural Transm (Vienna); 2021 Apr 18; 128(4):405-416. PubMed ID: 33247415
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  • 40.
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