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
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
Broadening the phenotype of the TWNK gene associated Perrault syndrome.
Fekete B et al.
Bmc Medical Genetics, 2019
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
Expanding phenotype of mitochondrial depletion syndrome in association with TWNK mutations.
Sukhudyan B et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2019
Mitochondrial dysfunction and autism: comprehensive genetic analyses of children with autism and mtDNA deletion.
Varga NÁ et al.
Behavioral and Brain Functions : Bbf, 2018
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