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Journal Abstract Search

142 related items for PubMed ID: 37041082

  • 1. 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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  • 3. 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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  • 5. 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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  • 6. [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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  • 7. 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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  • 8. KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
    Cif L, Demailly D, Lin JP, Barwick KE, Sa M, Abela L, Malhotra S, Chong WK, Steel D, Sanchis-Juan A, Ngoh A, Trump N, Meyer E, Vasques X, Rankin J, Allain MW, Applegate CD, Attaripour Isfahani S, Baleine J, Balint B, Bassetti JA, Baple EL, Bhatia KP, Blanchet C, Burglen L, Cambonie G, Seng EC, Bastaraud SC, Cyprien F, Coubes C, d'Hardemare V, Deciphering Developmental Disorders Study, Doja A, Dorison N, Doummar D, Dy-Hollins ME, Farrelly E, Fitzpatrick DR, Fearon C, Fieg EL, Fogel BL, Forman EB, Fox RG, Genomics England Research Consortium, Gahl WA, Galosi S, Gonzalez V, Graves TD, Gregory A, Hallett M, Hasegawa H, Hayflick SJ, Hamosh A, Hully M, Jansen S, Jeong SY, Krier JB, Krystal S, Kumar KR, Laurencin C, Lee H, Lesca G, François LL, Lynch T, Mahant N, Martinez-Agosto JA, Milesi C, Mills KA, Mondain M, Morales-Briceno H, NIHR BioResource, Ostergaard JR, Pal S, Pallais JC, Pavillard F, Perrigault PF, Petersen AK, Polo G, Poulen G, Rinne T, Roujeau T, Rogers C, Roubertie A, Sahagian M, Schaefer E, Selim L, Selway R, Sharma N, Signer R, Soldatos AG, Stevenson DA, Stewart F, Tchan M, Undiagnosed Diseases Network, Verma IC, de Vries BBA, Wilson JL, Wong DA, Zaitoun R, Zhen D, Znaczko A, Dale RC, de Gusmão CM, Friedman J, Fung VSC, King MD, Mohammad SS, Rohena L, Waugh JL, Toro C, Raymond FL, Topf M, Coubes P, Gorman KM, Kurian MA.
    Brain; 2020 Dec 05; 143(11):3242-3261. PubMed ID: 33150406
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  • 9.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Abela L, Kurian MA.
    ; 1993 Dec 05. PubMed ID: 29697234
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  • 11. 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 05; 48(1):371-379. PubMed ID: 33300088
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  • 12. 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 05; 32(7):1087-1091. PubMed ID: 28520167
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  • 13. A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing.
    Grosz BR, Tisch S, Tchan MC, Fung VSC, Darveniza P, Fellner A, Kurian MA, McLean A, Tomlinson SE, Smyth R, Devery S, Wu KHC, Kennerson ML, Kumar KR.
    Mol Genet Genomic Med; 2022 May 05; 10(5):e1923. PubMed ID: 35293157
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  • 14. 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 05; 22(2):245-256. PubMed ID: 29289525
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  • 16. 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 05; 52():55-61. PubMed ID: 29653907
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  • 18. 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 Jul 05; 69(5):1400-1401. PubMed ID: 34747823
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  • 19. Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation.
    Ng A, Galosi S, Salz L, Wong T, Schwager C, Amudhavalli S, Gelineau-Morel R, Chowdhury S, Rady Children’s Institute for Genomic Medicine Investigators, Friedman J.
    BMC Neurol; 2020 Jun 16; 20(1):246. PubMed ID: 32546208
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  • 20. 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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