Articles with "dyt kmt2b" as a keyword



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Freezing of Gait as a Complication of Pallidal Deep Brain Stimulation in DYT‐KMT2B Patients with Evidence of Striatonigral Degeneration

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Published in 2022 at "Movement Disorders Clinical Practice"

DOI: 10.1002/mdc3.13519

Abstract: Mutations in KMT2B were fi rst identi fi ed in individuals with early-onset complex dystonia. 1 Since then, it is emerging as one of the most common causes of genetic childhood-onset dystonia. 2 Additional features… read more here.

Keywords: dyt kmt2b; deep brain; dystonia; brain stimulation ... See more keywords
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Comparison of methylation episignatures in KMT2B- and KMT2D-related human disorders.

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Published in 2022 at "Epigenomics"

DOI: 10.2217/epi-2021-0521

Abstract: Aim & methods: To investigate peripheral blood methylation episignatures in KMT2B-related dystonia (DYT-KMT2B), the authors undertook genome-wide methylation profiling of ∼2 M CpGs using a next-generation sequencing-based assay and compared the findings with those in controls… read more here.

Keywords: methylation; dyt kmt2b; kmt2d related; methylation episignatures ... See more keywords