Associated Papers
Recessive variants in TWNK cause syndromic and non-syndromic post-synaptic auditory neuropathy through MtDNA replication defects.
Gao X et al.
Human Genetics, 2025
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
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
Tau Pathology Associated With Parkinsonism and Mutation of Mitochondrial DNA Helicase Gene TWNK.
Vandenberghe W et al.
Neurology. Genetics, 2021
A novel variation in the Twinkle linker region causing late-onset dementia.
Echaniz-Laguna A et al.
Neurogenetics, 2010
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