Associated Papers
Genetic Homogeneity of a TDP1 Variant, c.1478A>G, as the Main Disease-Causing Variant of Spinocerebellar Ataxia With Axonal Neuropathy 1 (SCAN1) in the Middle East: A Systematic Review.
Mohammadi M et al.
Pediatric Neurology, 2025
Clarification of undiagnosed ataxia using whole-exome sequencing with clinical implications.
Kim M et al.
Parkinsonism & Related Disorders, 2020
Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy.
Takashima H et al.
Nature Genetics, 2002
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