Associated Papers
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large-Scale Exome Sequencing.
Thomsen M et al.
Annals of Clinical and Translational Neurology, 2025
40533913 (PubMed )
Supplement: ACN3-12-1648-s002.xlsx › Table_2_-_Pathogenic_vars
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Cif L et al.
Arxiv, 2025
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome Sequencing.
Thomsen M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
39677454 (PubMed )
Supplement: media-1.xlsx › Table_2_-_Pathogenic_vars
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
KMT2B-Related Dystonia: Challenges in Diagnosis and Treatment.
Aksoy A et al.
Molecular Syndromology, 2022
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
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
Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study.
Carecchio M et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2019
[KMT2B variants responsible for children dystonia 28: report of two cases].
Dai LF et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2019
An inherited KMT2B duplication variant in a Chinese family with dystonia and/or development delay.
Dai L et al.
Parkinsonism & Related Disorders, 2019
Phenotype variability and allelic heterogeneity in KMT2B-Associated disease.
Kawarai T et al.
Parkinsonism & Related Disorders, 2018
Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.
Cereda M et al.
Nature Communications, 2016
27377421 (PubMed )
Supplement: ncomms12072-s2.xlsx › UH5T1
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