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
Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report.
Kume K et al.
Bmc Medical Genetics, 2020
Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features.
Morino H et al.
Neurology, 2014
Two novel mutations in PEO1 (twinkle) gene associated with chronic external ophthalmoplegia.
Ronchi D et al.
Journal of the Neurological Sciences, 2011
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