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
A stagewise response to mitochondrial dysfunction in mitochondrial DNA maintenance disorders.
Vincent AE et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2024
Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report.
Kume K et al.
Bmc Medical Genetics, 2020
Understanding mitochondrial DNA maintenance disorders at the single muscle fibre level.
Lehmann D et al.
Nucleic Acids Research, 2019
Linear mitochondrial DNA is rapidly degraded by components of the replication machinery.
Peeva V et al.
Nature Communications, 2018
Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features.
Morino H et al.
Neurology, 2014
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