Heterozygous GGC repeat expansion of NOTCH2NLC in a patient with neuronal intranuclear inclusion disease and progressive retinal dystrophy. (2nd January 2020) - Hayashi, Takaaki; Katagiri, Satoshi; Mizobuchi, Kei; Yoshitake, Kazutoshi; Kameya, Shuhei; Matsuura, Tomokazu; Iwata, Takeshi; Nakano, Tadashi