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
TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study.
Percetti M et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 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
Nuclear Genes Associated with Mitochondrial DNA Processes as Contributors to Parkinson's Disease Risk.
Müller-Nedebock AC et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 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
Structural basis for adPEO-causing mutations in the mitochondrial TWINKLE helicase.
Peter B et al.
Human Molecular Genetics, 2019
Mitochondrial DNA maintenance: an appraisal.
Akhmedov AT et al.
Molecular and Cellular Biochemistry, 2015
Sporadic PEO caused by a novel POLG variation and a Twinkle mutation: digenic inheritance?
Da Pozzo P et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2015
Neurogenetics in Argentina: diagnostic yield in a personalized research based clinic.
Rodríguez-Quiroga SA et al.
Genetics Research, 2015
Extraocular muscle atrophy and central nervous system involvement in chronic progressive external ophthalmoplegia.
Yu-Wai-Man C et al.
Plos One, 2013
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
Parkinson's syndrome and Parkinson's disease in mitochondrial disorders.
Finsterer J
Movement Disorders : Official Journal of the Movement Disorder Society, 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 clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.
Fratter C et al.
Neurology, 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
Structure-function defects of the twinkle amino-terminal region in progressive external ophthalmoplegia.
Holmlund T et al.
Biochimica Et Biophysica Acta, 2009
Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia.
Virgilio R et al.
Journal of Neurology, 2008
Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle.
Van Goethem G et al.
Human Mutation, 2003