Akiyo Yamamoto

Novel HSD17B4 Variants Cause Progressive Leukodystrophy in Childhood: Case Report and Literature Review

Y. Kawasaki, H. Saitsu, M. Nakashima, 2021, Child neurology open.

A novel de novo TMEM63A variant in a patient with severe hypomyelination and global developmental delay

H. Saitsu, M. Nakashima, K. Aoto, 2021, Brain and Development.

Rapidly progressive fatal idiopathic hypertrophic pachymeningitis with brainstem involvement in a child

H. Tsutsumi, Y. Akiyama, H. Hirano, 2018, Child's Nervous System.

An integrated genetic analysis of epileptogenic brain malformed lesions

Y. Iimura, H. Sugano, A. Kakita, 2023, Acta Neuropathologica Communications.

Familial periodic paralysis associated with a rare KCNJ5 variant that supposed to have incomplete penetrance

H. Saitsu, M. Nakashima, Akiyo Yamamoto, 2020, Brain and Development.

Functional analysis of a double-point mutation in the KCNJ2 gene identified in a family with Andersen-Tawil syndrome

Y. Okamura, M. Takahashi, R. Sasaki, 2019, Journal of the Neurological Sciences.