S. Noguchi

Ryanozole, a RyR2-selective stabilizer, prevents stress-induced arrhythmias without impairing cardiac function in CPVT mouse models.

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.

This paper describes a second-generation transgenic marmoset model of SCA3 that replicates motor impairments and neuropathology, offering a platform for studying disease mechanisms and therapies.

The paper identifies SNUPN variants causing spinocerebellar atrophy by disrupting splicing in Purkinje cells through impaired U1 snRNP nuclear transport.

The paper identifies a DNAJB4 variant causing chaperonopathy in skeletal muscle, leading to muscle weakness and specific pathological features in type 1 fibers.

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.