No Association Between Rare TWNK Variants and Parkinson's Disease in European Cohorts
Sign Up to like & getrecommendations! Published in 2022 at "Movement Disorders"
DOI: 10.1002/mds.29216
Abstract: and colleagues 1 reporting variants in TWNK and their association with Parkinson ’ s disease (PD). The authors studied the frequency of rare TWNK variants in an Italian cohort of patients with PD, reporting six… read more here.
Keywords: twnk variants; twnk; rare twnk; parkinson disease ... See more keywords
Reply to: “Lack of Association between TWNK Rare Variants and Parkinson's Disease in a Chinese Cohort”
Sign Up to like & getrecommendations! Published in 2023 at "Movement Disorders"
DOI: 10.1002/mds.29373
Abstract: We thank Dr. Chunyu Li and colleagues for their interest in our work and for further exploring the link between rare variants in TWNK and Parkinson’s disease (PD). To this aim, they performed a burden… read more here.
Keywords: rare variants; twnk; parkinson disease; variants twnk ... See more keywords
Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report
Sign Up to like & getrecommendations! Published in 2020 at "BMC Medical Genetics"
DOI: 10.1186/s12881-020-01002-4
Abstract: The TWNK gene encodes the twinkle protein, which is a mitochondrial helicase for DNA replication. The dominant TWNK variants cause progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, while the recessive variants cause… read more here.
Keywords: cerebellar ataxia; age; onset cerebellar; twnk ... See more keywords