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
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
Advancing Cancer Care in Colombia: Results of the First In Situ Implementation of Comprehensive Genomic Profiling.
López Rivera JJ et al.
Journal of Personalized Medicine, 2024
39338229 (PubMed )
Supplement: jpm-14-00975-s001.zip › SUPPLEMENTARY_DATA.xlsx › Table_S2
KMT2B-Related Dystonia: Challenges in Diagnosis and Treatment.
Aksoy A et al.
Molecular Syndromology, 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
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
An inherited KMT2B duplication variant in a Chinese family with dystonia and/or development delay.
Dai L et al.
Parkinsonism & Related Disorders, 2019
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