Mitsuhashi, Satomi

Muscle choline kinase beta defect causes mitochondrial dysfunction and increased mitophagy

Mitsuhashi, S., Hatakeyama, H., Karahashi, M., Koumura, T., Nonaka, I., Hayashi, Y. K., Noguchi, S., Sher, R. B., Nakagawa, Y., Manfredi, G., et al. (2011) · Human Molecular Genetics

Mitochondrial Function and PathologyMuscle Physiology and Disorders

Cited by 95

Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy

Sakamoto, M., Iwama, K., Sekiguchi, F., Mashimo, H., Kumada, S., Ishigaki, K., Okamoto, N., Behnam, M., Ghadami, M., Koshimizu, E., et al. (2021) · Journal of Human Genetics

Fetal and Pediatric Neurological DisordersGenomics and Rare Diseases

Cited by 26

A novel NODAL variant in a young embolic stroke patient with visceral heterotaxy

Kaburagi, K., Hagiwara, Y., Tachikawa, K., Miyake, N., Akiyama, H., Kawai, Y., Omae, Y., Tokunaga, K., Yamano, Y., Shimizu, T., et al. (2024) · BMC Neurology

Congenital Heart Disease StudiesCardiovascular and Diving-Related Complications

Cited by 1