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
Detailed characterization of auditory neuropathy in perrault syndrome with TWNK variants.
Shimanuki MN et al.
Auris, Nasus, Larynx, 2024
Axonal polyneuropathy and ataxia in children: consider Perrault Syndrome, a case report.
Munson HE et al.
Bmc Medical Genomics, 2023
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
A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis?
Gotta F et al.
Annals of Human Genetics, 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
Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome.
Ołdak M et al.
Journal of Translational Medicine, 2017
Expanding the genotypic spectrum of Perrault syndrome.
Demain LA et al.
Clinical Genetics, 2017
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