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 landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine.
Heddar A et al.
Ebiomedicine, 2022
36099812 (PubMed )
Supplement: mmc1.pdf
Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report.
Kume K et al.
Bmc Medical Genetics, 2020
Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease.
Pierce SB et al.
Cold Spring Harbor Molecular Case Studies, 2016
Select a paper to view details