A family with neuronal intranuclear inclusion disease with focal segmental glomerulosclerosis-Reference-Cited by-同舟云学术

A family with neuronal intranuclear inclusion disease with focal segmental glomerulosclerosis

Published:2024-07-30 Issue:9 Volume:271 Page:6227-6237
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

Watanabe Kazuki,Bunai Tomoyasu,Sakamoto Masamune,Ishigaki Sayaka,Iwakura Takamasa,Ohashi Naro,Wakatsuki Rie,Takenouchi Akiyuki,Iwaizumi Moriya,Hotta Yoshihiro,Saida Ken,Koshimizu Eriko,Miyatake Satoko,Saitsu Hirotomo,Matsumoto Naomichi,Nakamura Tomohiko^ORCID

Funder

Japan Society for the Promotion of Science

Japan Research Promotion Society for Cardiovascular Diseases

Japan Agency for Medical Research and Development

Takeda Science Foundation

Publisher

Springer Science and Business Media LLC

Link

https://link.springer.com/content/pdf/10.1007/s00415-024-12593-w.pdf

Reference35 articles.

1. Sone J, Mori K, Inagaki T, Katsumata R, Takagi S, Yokoi S et al (2016) Clinicopathological features of adult-onset neuronal intranuclear inclusion disease. Brain 139:3170–3186

2. Sone J, Mitsuhashi S, Fujita A, Mizuguchi T, Hamanaka K, Mori K et al (2019) Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease. Nat Genet 51:1215–1221

3. Ishiura H, Shibata S, Yoshimura J, Suzuki Y, Qu W, Doi K et al (2019) Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease. Nat Genet 51:1222–1232

4. Ogasawara M, Iida A, Kumutpongpanich T, Ozaki A, Oya Y, Konishi H et al (2020) CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations. Acta Neuropathol Commun 8:204

5. Yu J, Deng J, Guo X, Shan J, Luan X, Cao L et al (2021) The GGC repeat expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy type 3. Brain 144:1819–1832