Associated Papers
KMT2B-Related Dystonia in Indian Patients With Literature Review and Emphasis on Asian Cohort.
Dhar D et al.
Journal of Movement Disorders, 2023
37309110 (PubMed )
Supplement: jmd-23035-Supplementary-Table-4.pdf
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.
Levy MA et al.
Hgg Advances, 2022
35047860 (PubMed )
Supplement: mmc2.xlsx › Table_S1_samples
Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile.
Ciolfi A et al.
Clinical Epigenetics, 2021
34380541 (PubMed )
Supplement: 13148_2021_1145_MOESM9_ESM.xlsx › Foglio1
Diagnostic Yield of a Targeted Next-Generation Sequencing Gene Panel for Pediatric-Onset Movement Disorders: A 3-Year Cohort Study.
Graziola F et al.
Frontiers in Genetics, 2019
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