Targeted Long-Read Sequencing As a Single Assay Improves the Diagnosis of Spastic-Ataxia Disorders.

Laura Ivete Rudaks,Igor Stevanovski, Dennis Yeow, Andre L M Reis, Sanjog R Chintalaphani, Pak Leng Cheong,Hasindu Gamaarachchi,Lisa Worgan,Kate Ahmad, Michael Hayes, Andrew Hannaford, Samuel Kim,Victor S C Fung,Gabor M Halmagyi, Andrew Martin, David Manser,Michel Tchan,Karl Ng, Marina L Kennerson, Ira W Deveson, Kishore Raj Kumar

Annals of clinical and translational neurology（2025）

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hereditary cerebellar ataxia,hereditary spastic paraplegia,nanopore sequencing,spinocerebellar ataxia

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