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
Mitochondrial protein dysfunction in pathogenesis of neurological diseases.
Wang L et al.
Frontiers in Molecular Neuroscience, 2022
Twinkle-associated familial parkinsonism with Lewy pathology: Cause or predisposition?
Breen DP et al.
Neurology, 2020
The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.
Fratter C et al.
Neurology, 2010
A novel Twinkle (PEO1) gene mutation in a Chinese family with adPEO.
Liu Z et al.
Molecular Vision, 2008
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