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
Detailed characterization of auditory neuropathy in perrault syndrome with TWNK variants.
Shimanuki MN et al.
Auris, Nasus, Larynx, 2024
Genetic insights into the complexity of premature ovarian insufficiency.
Nie L et al.
Reproductive Biology and Endocrinology : Rb&e, 2024
Axonal polyneuropathy and ataxia in children: consider Perrault Syndrome, a case report.
Munson HE et al.
Bmc Medical Genomics, 2023
Structural insight and characterization of human Twinkle helicase in mitochondrial disease.
Riccio AA et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
A Novel Missense Mutation in TWNK Gene Causing Perrault Syndrome Type 5 in a Chinese Family and Review of the Literature.
Wei L et al.
Pharmacogenomics and Personalized Medicine, 2022
A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis?
Gotta F et al.
Annals of Human Genetics, 2020
TWINKLE and Other Human Mitochondrial DNA Helicases: Structure, Function and Disease.
Peter B et al.
Genes, 2020
Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.
Tan J et al.
Ebiomedicine, 2020
32305867 (PubMed )
Supplement: mmc3.xlsx › Excluded_variants
Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders.
Domínguez-Ruiz M et al.
Journal of Translational Medicine, 2019
Structural basis for adPEO-causing mutations in the mitochondrial TWINKLE helicase.
Peter B et al.
Human Molecular Genetics, 2019
Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome.
Ołdak M et al.
Journal of Translational Medicine, 2017
An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature.
Lerat J et al.
Human Mutation, 2016
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar
Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features.
Morino H et al.
Neurology, 2014
Genetics of primary ovarian insufficiency: new developments and opportunities.
Qin Y et al.
Human Reproduction Update, 0
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