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
Development of a Mitochondrial Myopathy-Composite Assessment Tool.
Flickinger J et al.
Jcsm Clinical Reports, 2021
35071983 (PubMed )
Supplement: NIHMS1767033-supplement-Supplementary_Tables.pdf
Mitochondrial dysfunction and risk of cancer.
Lund M et al.
British Journal of Cancer, 2015
Modeling pathogenic mutations of human twinkle in Drosophila suggests an apoptosis role in response to mitochondrial defects.
Sanchez-Martinez A et al.
Plos One, 2012
The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.
Fratter C et al.
Neurology, 2010
Finding twinkle in the eyes of a 71-year-old lady: a case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease.
Van Hove JL et al.
American Journal of Medical Genetics. Part A, 2009
Phenotype and clinical course in a family with a new de novo Twinkle gene mutation.
Jeppesen TD et al.
Neuromuscular Disorders : Nmd, 2008
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