Associated Papers
KMT2B-related disorders in Austria: clinical features and long-term outcome after deep brain stimulation.
Indelicato E et al.
Frontiers in Neurology, 2026
Insights on the Shared Genetic Landscape of Neurodevelopmental and Movement Disorders.
Indelicato E et al.
Current Neurology and Neuroscience Reports, 2025
Episignature analysis of moderate effects and mosaics.
Oexle K et al.
European Journal of Human Genetics : Ejhg, 2023
37365401 (PubMed )
Supplement: 41431_2023_1406_MOESM4_ESM.xlsx › KMT2B
Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset.
Mirza-Schreiber N et al.
Brain : a Journal of Neurology, 2022
Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation.
Ng A et al.
Bmc Neurology, 2020
32546208 (PubMed )
Supplement: 12883_2020_1798_MOESM7_ESM.xlsx › Sheet1
Update on KMT2B-Related Dystonia.
Zech M et al.
Current Neurology and Neuroscience Reports, 2019
A rare variant in TOR1A exon 5 associated with isolated dystonia in southwestern Chinese.
Long Y et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2017
KMT2B rare missense variants in generalized dystonia.
Zech M et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2017
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