13 results on '"Tada, Yui"'
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2. Comparison of two families with and without ataxia harboring novel variants in PRKCG
3. Spinocerebellar ataxia type 17-digenic TBP/STUB1 disease: neuropathologic features of an autopsied patient
4. Correction: Comparison of two families with and without ataxia harboring novel variants in PRKCG
5. The first Japanese case of primary familial brain calcification caused by an MYORG variant
6. Aggressive periodontitis and NOD2 variants
7. Genetic screening for potassium channel mutations in Japanese autosomal dominant spinocerebellar ataxia
8. Biallelic mutation of HSD17B4 induces middle age–onset spinocerebellar ataxia
9. Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report
10. Additional file 1 of Spinocerebellar ataxia type 17-digenic TBP/STUB1 disease: neuropathologic features of an autopsied patient
11. 次世代シーケンサーを用いた日本人常染色体優性遺伝性脊髄小脳変性症におけるカリウムチャネル変異の解析
12. C-terminal mutations in SYNE1 are associated with motor neuron disease in patients with SCAR8
13. Optineurin regulates osteoblastogenesis through STAT1
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