Associated Papers
Spinocerebellar ataxia, autosomal recessive type 23 (SCAR23) with compound TDP2 variants: clinical, molecular, and quantitative follow-up.
Colona VL et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
A novel pathogenic variant in TDP2 causes spinocerebellar ataxia autosomal recessive 23 accompanied by pituitary tumor and hyperhidrosis: a case report.
Zheng Y et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2024
Inactivating TDP2 missense mutation in siblings with congenital abnormalities reminiscent of fanconi anemia.
Zagnoli-Vieira G et al.
Human Genetics, 2023
A novel non-sense mutation in TDP2 causes spinocerebellar ataxia autosomal recessive 23 accompanied by bilateral upward gaze; report of a case and review of the literature.
Zoghi S et al.
European Journal of Medical Genetics, 2021
Genetic Testing in Various Neurodevelopmental Disorders Which Manifest as Cerebral Palsy: A Case Study From Iran.
Nejabat M et al.
Frontiers in Pediatrics, 2021
Tyrosyl-DNA phosphodiesterases are involved in mutagenic events at a ribonucleotide embedded into DNA in human cells.
Takeishi A et al.
Plos One, 2020
33382846 (PubMed )
Supplement: pone.0244790.s003.xlsx › Table_S3
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