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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…
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Keywords:
dyt kmt2b;
deep brain;
dystonia;
brain stimulation ... See more keywords
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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…
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Keywords:
methylation;
dyt kmt2b;
kmt2d related;
methylation episignatures ... See more keywords