Fingerprint The fingerprint is based on mining the text of the scientific documents related to the associated persons. Based on that an index of weighted terms is created, which defines the key subjects of research unit

Japan Medicine & Life Sciences
Brain Diseases Medicine & Life Sciences
Mutation Medicine & Life Sciences
Mucocutaneous Lymph Node Syndrome Medicine & Life Sciences
Seizures Medicine & Life Sciences
Pediatrics Medicine & Life Sciences
Therapeutics Medicine & Life Sciences
Genes Medicine & Life Sciences

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Research Output 2001 2018

A male case with CDKL5-associated encephalopathy manifesting transient methylmalonic acidemia

Akamine, S., Ishizaki, Y., Sakai, Y., Torisu, H., Fukai, R., Miyake, N., Okubo, K., Koga, H., Sanefuji, M., Sakata, A., Kimura, M., Yamaguchi, S., Sakamoto, O., Hara, T., Saitsu, H., Matsumoto, N. & Ohga, S., Aug 1 2018, In : European Journal of Medical Genetics. 61, 8, p. 451-454 4 p.

Research output: Contribution to journalArticle

Brain Diseases
Mutation
Methylmalonic Acid
Exome
Infantile Spasms

An acute encephalopathy with reduced diffusion in BRAF-associated cardio-facio-cutaneous syndrome

Okuzono, S., Fukai, R., Noda, M., Miyake, N., Lee, S., Kaku, N., Sanefuji, M., Akamine, S., Kanno, S., Ishizaki, Y., Torisu, H., Kira, R., Matsumoto, N., Sakai, Y. & Ohga, S., Jan 1 2018, (Accepted/In press) In : Brain and Development.

Research output: Contribution to journalArticle

Brain Diseases
Exome
Mutation
Inborn Genetic Diseases
Sick Leave

A rightward saccade to an unexpected stimulus as a marker for lateralised visuospatial attention /631/378/2649/1310 /631/378/2617/1795 /631/477/2811 article

Sanefuji, M., Yamashita, H., Torio, M., Katsuki, D., Akamine, S., Ishizaki, Y., Kishimoto, J., Sakai, Y., Takada, H., Yoshida, K. & Ohga, S., Dec 1 2018, In : Scientific reports. 8, 1, 7562.

Research output: Contribution to journalArticle

Saccades
Reaction Time
Task Performance and Analysis
Healthy Volunteers
Brain