Atsushi Fujita

Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease

Jun Sone, Satomi Mitsuhashi, Atsushi Fujita et al. · Nature Genetics · 2019 · 479 citations

Neurodegenerative Diseases, Genetic Disorder, Neurology +6

Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development

Ashley L. Lennox, Mariah L. Hoye, Ruiji Jiang et al. · Neuron · 2020 · 205 citations · Full text

Developmental Biology, Brain Development, Developmental Genetics +8

A yeast gene necessary for bud-site selection encodes a protein similar to insulin-degrading enzymes

Atsushi Fujita, Chitoshi Oka, Y. Arikawa et al. · Nature · 1994 · 144 citations

Natural Sciences, Genetics, Gene Structure +11

Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome

Noriko Miyake, Hiroyasu Tsukaguchi, Eriko Koshimizu et al. · The American Journal of Human Genetics · 2015 · 119 citations · Full text

Biallelic Mutations, Urology, Genetic Disorder +6

GGC Repeat Expansion of <i>NOTCH2NLC</i> in Adult Patients with Leukoencephalopathy

Masaki Okubo, Hiroshi Doi, Ryoko Fukai et al. · Annals of Neurology · 2019 · 116 citations