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
Detailed characterization of auditory neuropathy in perrault syndrome with TWNK variants.
Shimanuki MN et al.
Auris, Nasus, Larynx, 2024
Combining Panel-Based Next-Generation Sequencing and Exome Sequencing for Genetic Liver Diseases.
Chen CB et al.
The Journal of Pediatrics, 2023
Outcomes of cochlear implantation in 75 patients with auditory neuropathy.
Wu J et al.
Frontiers in Neuroscience, 2023
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
Mitochondrial DNA Depletion Syndrome and Its Associated Cardiac Disease.
Wang H et al.
Frontiers in Cardiovascular Medicine, 2021
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
[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
Whole exome sequencing reveals two novel compound heterozygous mutations in TWNK as a cause of the hepatocerebral form of mitochondrial DNA depletion syndrome: a case report.
Li X et al.
Bmc Medical Genetics, 2019
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