Author
National Center of Neurology and PsychiatryORCID 0000-0001-7538-1651Unclaimed ORCID profile · follow to get notified of new preprints
3 papers
Recent·Most cited
Yosuke Kawai, Yusuke Watanabe, Yosuke Omae…·Katsushi Tokunaga
This study uses whole-genome sequencing of 9,850 Japanese samples to analyze genetic diversity, revealing population declines and natural selection linked to agriculture and food production.
Michio Inoue, S. Noguchi, Yukiko Inoue…·Ichizo Nishino
The paper identifies a DNAJB4 variant causing chaperonopathy in skeletal muscle, leading to muscle weakness and specific pathological features in type 1 fibers.
Hong Joo Kim, Payam Mohassel, Sandra C. Donkervoort…·J. Paul Taylor
The paper identifies heterozygous frameshift variants in hnRNPA2B1 causing early-onset oculopharyngeal muscular dystrophy by altering nucleocytoplasmic transport.