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
Rare Gene Mutations in Romanian Hypoacusis Patients: Case Series and a Review of the Literature.
Neagu AC et al.
Medicina (kaunas, Lithuania), 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
Perrault syndrome: Clinical report and retrospective analysis.
Pan Z 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
Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report.
Kume K et al.
Bmc Medical Genetics, 2020
Broadening the phenotype of the TWNK gene associated Perrault syndrome.
Fekete B et al.
Bmc Medical Genetics, 2019
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