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
Clinical, Histological, and Genetic Features of 25 Patients with Autosomal Dominant Progressive External Ophthalmoplegia (ad-PEO)/PEO-Plus Due to TWNK Mutations.
Bermejo-Guerrero L et al.
Journal of Clinical Medicine, 2021
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
The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.
Fratter C et al.
Neurology, 2010
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