Genetic Dystonias: Update on Classification and New Genetic Discoveries
Author:
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),General Neuroscience
Link
http://link.springer.com/content/pdf/10.1007/s11910-021-01095-1.pdf
Reference105 articles.
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2. Marras C, Lang A, van de Warrenburg BP, Sue CM, Tabrizi SJ, Bertram L, et al. Nomenclature of genetic movement disorders: recommendations of the International Parkinson and Movement Disorder Society Task Force. Mov Disord. 2016;31(4):436–57. https://doi.org/10.1002/mds.26527.
3. Lohmann K, Klein C. Update on the genetics of dystonia. Curr Neurol Neurosci Rep. 2017;17(3):26. https://doi.org/10.1007/s11910-017-0735-0.
4. Barbagiovanni G, Germain PL, Zech M, Atashpaz S, Lo Riso P, D'Antonio-Chronowska A, et al. KMT2B is selectively required for neuronal transdifferentiation, and its loss exposes dystonia candidate genes. Cell Rep. 2018;25(4):988–1001. https://doi.org/10.1016/j.celrep.2018.09.067.
5. Meyer E, Carss KJ, Rankin J, Nichols JM, Grozeva D, Joseph AP, et al. Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. Nat Genet. 2017;49(2):223–37. https://doi.org/10.1038/ng.3740.
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