Associated Papers
Genetic etiology of Perrault syndrome in Iranian families: first report from Iran and literature review.
Shokouhian E et al.
Journal of Applied Genetics, 2026
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 Case Report of Auditory Neuropathy Due to TWNK Gene Mutations.
Tufatulin GS et al.
The Journal of International Advanced Otology, 2025
Identification of genetic mechanisms of non-isolated auditory neuropathy with various phenotypes in Chinese families.
Cao Y et al.
Orphanet Journal of Rare Diseases, 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
Cochlear implantation in patients with Charcot-Marie-Tooth disease: two cases with a review of the literature.
Song B et al.
European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-rhino-laryngological Societies (eufos) : Affiliated With the German Society for Oto-rhino-laryngology - Head and Neck Surgery, 2024
Clinical and genetic architecture of a large cohort with auditory neuropathy.
Wang H et al.
Human Genetics, 2024
Axonal polyneuropathy and ataxia in children: consider Perrault Syndrome, a case report.
Munson HE et al.
Bmc Medical Genomics, 2023
Outcomes of cochlear implantation in 75 patients with auditory neuropathy.
Wu J et al.
Frontiers in Neuroscience, 2023
TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study.
Percetti M et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2022
New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder.
Faridi R et al.
Human Genetics, 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
Next-generation sequencing identifies rare pathogenic and novel candidate variants in a cohort of Chinese patients with syndromic or nonsyndromic hearing loss.
Xiang YB et al.
Molecular Genetics & Genomic Medicine, 2020
A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis?
Gotta F et al.
Annals of Human Genetics, 2020
[Analysis of TWNK variant in a family affected with Perrault syndrome].
Chen Z et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical 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
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
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