Matsumoto, Naomichi

Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis

Guerrini, R., Mei, D., Kerti-Szigeti, K., Pepe, S., Koenig, M. K., Von Allmen, G., Cho, M. T., McDonald, K., Baker, J., Bhambhani, V., et al. (2022) · Brain

ATP Synthase and ATPases ResearchGenetics and Neurodevelopmental Disorders

Cited by 34

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

KCNT2‐Related Disorders: Phenotypes, Functional, and Pharmacological Properties

Cioclu, M. C., Mosca, I., Ambrosino, P., Puzo, D., Bayat, A., Wortmann, S. B., Koch, J., Strehlow, V., Shirai, K., Matsumoto, N., et al. (2023) · Annals of Neurology

Epilepsy research and treatmentIon channel regulation and function

Cited by 23

Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome

Otsuji, S., Nishio, Y., Tsujita, M., Rio, M., Huber, C., Antón-Plágaro, C., Mizuno, S., Kawano, Y., Miyatake, S., Simon, M., et al. (2023) · Journal of Medical Genetics

Cellular transport and secretionGenomics and Rare Diseases

Cited by 19

Novel rare variations of the oxytocin receptor (OXTR) gene in autism spectrum disorder individuals

Liu, X., Kawashima, M., Miyagawa, T., Otowa, T., Latt, K. Z., Thiri, M., Nishida, H., Sugiyama, T., Tsurusaki, Y., Matsumoto, N., et al. (2015) · Human Genome Variation

Autism Spectrum Disorder ResearchNeuroendocrine regulation and behavior

Cited by 18

RBPJ is disrupted in a case of proximal 4p deletion syndrome with epilepsy

Nakayama, T., Saitsu, H., Endo, W., Kikuchi, A., Uematsu, M., Haginoya, K., Hino-fukuyo, N., Kobayashi, T., Iwasaki, M., Tominaga, T., et al. (2014) · Brain and Development

Genomic variations and chromosomal abnormalitiesEpilepsy research and treatment

Cited by 11