Associated Papers
Mitochondrial DNA Replication and Disease: A Historical Perspective on Molecular Insights and Therapeutic Advances.
Somai S et al.
International Journal of Molecular Sciences, 2025
Recessive variants in TWNK cause syndromic and non-syndromic post-synaptic auditory neuropathy through MtDNA replication defects.
Gao X et al.
Human Genetics, 2025
The First Heterozygous TWNK Nonsense Mutation Associated with Progressive External Ophthalmoplegia: Evidence for a New Piece in the Puzzle of Mitochondrial Diseases.
Lopergolo D et al.
Biomolecules, 2025
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.
Gorman E et al.
Frontiers in Genetics, 2025
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
Have one's view of the important overshadowed by the trivial: chronic progressive external ophthalmoplegia combined with unilateral facial nerve injury: a case report and literature review.
Feng Z et al.
Frontiers in Neurology, 2023
Mitochondrial protein dysfunction in pathogenesis of neurological diseases.
Wang L et al.
Frontiers in Molecular Neuroscience, 2022
Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disorders.
Bris C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Twinkle-associated familial parkinsonism with Lewy pathology: Cause or predisposition?
Breen DP et al.
Neurology, 2020
TWINKLE and Other Human Mitochondrial DNA Helicases: Structure, Function and Disease.
Peter B et al.
Genes, 2020
Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report.
Kume K et al.
Bmc Medical Genetics, 2020
Understanding mitochondrial DNA maintenance disorders at the single muscle fibre level.
Lehmann D et al.
Nucleic Acids Research, 2019
Opening One's Eyes to Mosaicism in Progressive External Ophthalmoplegia.
Sommerville EW et al.
Neurology. Genetics, 2017
Mutation in TWINKLE in a Large Iranian Family with Progressive External Ophthalmoplegia, Myopathy, Dysphagia and Dysphonia, and Behavior Change.
Tafakhori A et al.
Archives of Iranian Medicine, 2016
Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features.
Morino H et al.
Neurology, 2014
Extraocular muscle atrophy and central nervous system involvement in chronic progressive external ophthalmoplegia.
Yu-Wai-Man C et al.
Plos One, 2013
Parkinson's syndrome and Parkinson's disease in mitochondrial disorders.
Finsterer J
Movement Disorders : Official Journal of the Movement Disorder Society, 2011
TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review.
Martin-Negrier ML et al.
European Journal of Neurology, 2011
Disease variants of the human mitochondrial DNA helicase encoded by C10orf2 differentially alter protein stability, nucleotide hydrolysis, and helicase activity.
Longley MJ et al.
The Journal of Biological Chemistry, 2010
The human mitochondrial replication fork in health and disease.
Wanrooij S et al.
Biochimica Et Biophysica Acta, 2010
The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.
Fratter C et al.
Neurology, 2010
A novel variation in the Twinkle linker region causing late-onset dementia.
Echaniz-Laguna A et al.
Neurogenetics, 2010
Clinical phenotype of autosomal dominant progressive external ophthalmoplegia in a family with a novel mutation in the C10orf2 gene.
Hong D et al.
Muscle & Nerve, 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
Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling.
Goffart S et al.
Human Molecular Genetics, 2009
Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia.
Virgilio R et al.
Journal of Neurology, 2008
Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle.
Baloh RH et al.
Archives of Neurology, 2007
Differential phenotypes of active site and human autosomal dominant progressive external ophthalmoplegia mutations in Drosophila mitochondrial DNA helicase expressed in Schneider cells.
Matsushima Y et al.
The Journal of Biological Chemistry, 2007