Rumiko Izumi

Aberrant axon branching via Fos-B dysregulation in FUS-ALS motor neurons

Tetsuya Akiyama, Naoki Suzuki, Mitsuru Ishikawa et al. · EBioMedicine · 2019 · 78 citations · Full text

GNE myopathy associated with congenital thrombocytopenia: A report of two siblings

Rumiko Izumi, Tetsuya Niihori, Naoki Suzuki et al. · Neuromuscular Disorders · 2014 · 71 citations

Gne Myopathy, Congenital Thrombocytopenia, Pediatrics +1

Proteasome dysfunction induces muscle growth defects and protein aggregation

Yasuo Kitajima, Yoshitaka Tashiro, Naoki Suzuki et al. · Journal of Cell Science · 2014 · 67 citations · Full text

Mitophagy, Muscle Function, Proteasome +17

Comprehensive targeted next-generation sequencing in Japanese familial amyotrophic lateral sclerosis

Ayumi Nishiyama, Tetsuya Niihori, Hitoshi Warita et al. · Neurobiology of Aging · 2017 · 57 citations

Amyotrophic Lateral Sclerosis, Medicine, Genetics +7

The genetic profile of dysferlinopathy in a cohort of 209 cases: Genotype–phenotype relationship and a hotspot on the inner DysF domain

Rumiko Izumi, Toshiaki Takahashi, Naoki Suzuki et al. · Human Mutation · 2020 · 54 citations

Genetics, Genetic Epidemiology, Pathology +16