Author
National Center of Neurology and PsychiatryORCID 0000-0001-5553-7698Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
4 papers
Recent·Most cited
Nobuyuki Eura, S. Noguchi, Megumu Ogawa…·Ichizo Nishino
The paper investigates how genetic and epigenetic variations in CGG repeats affect OPDM patient phenotypes, finding complex relationships between repeat size, sequence context, and methylation.
Mariko Okubo, Megumu Ogawa, Nobuyuki Eura…·S. Noguchi
The paper identifies SNUPN variants causing spinocerebellar atrophy by disrupting splicing in Purkinje cells through impaired U1 snRNP nuclear transport.
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.
Yosuke Hiramuki, Yuriko Kure, Yoshihiko Saito…·Ichizo Nishino
This study uses Nanopore CRISPR/Cas9-targeted resequencing to diagnose FSHD by detecting D4Z4 repeat length and methylation status, finding significant hypomethylation in contracted repeats and its correlation with disease phenotype.