Associated Papers
Recessive variants in TWNK cause syndromic and non-syndromic post-synaptic auditory neuropathy through MtDNA replication defects.
Gao X et al.
Human Genetics, 2025
Clinical, Histological, and Genetic Features of 25 Patients with Autosomal Dominant Progressive External Ophthalmoplegia (ad-PEO)/PEO-Plus Due to TWNK Mutations.
Bermejo-Guerrero L et al.
Journal of Clinical Medicine, 2021
Neurogenetics in Argentina: diagnostic yield in a personalized research based clinic.
Rodríguez-Quiroga SA et al.
Genetics Research, 2015
Progressive external ophthalmoplegia (PEO) due to a mutation in the C10orf2 (PEO1) gene mimicking a myasthenic crisis.
Gonzalez-Moron D et al.
Bmj Case Reports, 2013
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