Additional file 7: Figure S7. Differentially methylated regions (DMRs) in DYT28. For each significant differentially methylated genomic region, the plot displays methylation levels calculated for 8 pathogenic variants (Pt. 1-8), used to define the episignature, versus 56 control samples. Mean difference, along with statistically significance according to Fisher’s and Stouffer’s methods, are reported for each region
Aim & methods: To investigate peripheral blood methylation episignatures in KMT2B-related dystonia (...
Aim & methods: To investigate peripheral blood methylation episignatures in KMT2B-related dystonia (...
Aim & methods: To investigate peripheral blood methylation episignatures in KMT2B-related dystonia (...
Additional file 2: Figure S2. Volcano plot of differences in the methylation status of individual pr...
Additional file 8: Figure S8. DMRs methylation levels distribution throughout different genomic regi...
Additional file 11: Table S3. Probes defining the methylation episignature associated with DYT28-cau...
Additional file 4: Figure S4. Leave-1-out cross validation carried out by means of MDS plots based o...
Additional file 1: Figure S1. Chromatograms showing the KMT2B variants identified in the 18 patients...
Additional file 6: Figure S6. DNA methylation pattern analysis excluding samples with missense KMT2B...
Background: Dystonia is a clinically and genetically heterogeneous movement disorder characterized b...
Background: Dystonia is a clinically and genetically heterogeneous movement disorder characterized b...
Dystonia is a prevalent, heterogeneous movement disorder characterized by involuntarily abnormal pos...
Dystonia is a prevalent, heterogeneous movement disorder characterized by involuntarily abnormal pos...
Dystonia is a prevalent, heterogeneous movement disorder characterized by involuntarily abnormal pos...
BACKGROUND: Recently a novel syndrome of childhood-onset generalized dystonia originating from mutat...
Aim & methods: To investigate peripheral blood methylation episignatures in KMT2B-related dystonia (...
Aim & methods: To investigate peripheral blood methylation episignatures in KMT2B-related dystonia (...
Aim & methods: To investigate peripheral blood methylation episignatures in KMT2B-related dystonia (...
Additional file 2: Figure S2. Volcano plot of differences in the methylation status of individual pr...
Additional file 8: Figure S8. DMRs methylation levels distribution throughout different genomic regi...
Additional file 11: Table S3. Probes defining the methylation episignature associated with DYT28-cau...
Additional file 4: Figure S4. Leave-1-out cross validation carried out by means of MDS plots based o...
Additional file 1: Figure S1. Chromatograms showing the KMT2B variants identified in the 18 patients...
Additional file 6: Figure S6. DNA methylation pattern analysis excluding samples with missense KMT2B...
Background: Dystonia is a clinically and genetically heterogeneous movement disorder characterized b...
Background: Dystonia is a clinically and genetically heterogeneous movement disorder characterized b...
Dystonia is a prevalent, heterogeneous movement disorder characterized by involuntarily abnormal pos...
Dystonia is a prevalent, heterogeneous movement disorder characterized by involuntarily abnormal pos...
Dystonia is a prevalent, heterogeneous movement disorder characterized by involuntarily abnormal pos...
BACKGROUND: Recently a novel syndrome of childhood-onset generalized dystonia originating from mutat...
Aim & methods: To investigate peripheral blood methylation episignatures in KMT2B-related dystonia (...
Aim & methods: To investigate peripheral blood methylation episignatures in KMT2B-related dystonia (...
Aim & methods: To investigate peripheral blood methylation episignatures in KMT2B-related dystonia (...