Ishikawa, Kinya

Spinocerebellar Ataxia Type 31 Is Associated with “Inserted” Penta-Nucleotide Repeats Containing (TGGAA)n

Sato, N., Amino, T., Kobayashi, K., Asakawa, S., Ishiguro, T., Tsunemi, T., Takahashi, M., Matsuura, T., Flanigan, K. M., Iwasaki, S., et al. (2009) · The American Journal of Human Genetics

Genetic Neurodegenerative DiseasesGlycogen Storage Diseases and Myoclonus

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Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation

Guo, L., Bertola, D. R., Takanohashi, A., Saito, A., Segawa, Y., Yokota, T., Ishibashi, S., Nishida, Y., Yamamoto, G. L., Franco, J. F. D. S., et al. (2019) · The American Journal of Human Genetics

Bone Metabolism and DiseasesConnective tissue disorders research

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A Novel Mutation in ELOVL4 Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia: A Broadened Spectrum of SCA34

Ozaki, K., Doi, H., Mitsui, J., Sato, N., Iikuni, Y., Majima, T., Yamane, K., Irioka, T., Ishiura, H., Doi, K., et al. (2015) · JAMA Neurology

Genetic Neurodegenerative DiseasesHereditary Neurological Disorders

Cited by 81