Associated Papers
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 2025
39937650 (PubMed )
Supplement: awaf059_supplementary_data.zip › brain-2024-02450-File011.pdf
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Cif L et al.
Arxiv, 2025
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-3.pdf
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
De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.
Brunet T et al.
Clinical Genetics, 2021
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Cif L et al.
Brain : a Journal of Neurology, 2020
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
Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing.
Zech M et al.
Neurogenetics, 2017
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