Concepedia

Expanding the clinical spectrum of adult-onset neuronal intranuclear inclusion disease

Yuwen Cao, Jingying Wu, Yunhua Yue, Chao Zhang, Shihua Liu, Ping Zhong, Shige Wang, Xiaojun Huang, Weiping Deng, Jing Pan,

Acta Neurologica Belgica · 2021 · 22 citations · 25 references

DOI

Concepts

References

25

Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease

Jun Sone, Satomi Mitsuhashi, Atsushi Fujita et al. · Nature Genetics · 2019 · 509 citations

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Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease

Hiroyuki Ishiura, Shota Shibata, Jun Yoshimura et al. · Nature Genetics · 2019 · 447 citations

, , +15

Clinicopathological features of adult-onset neuronal intranuclear inclusion disease

Jun Sone, Keiko Mori, Tomonori Inagaki et al. · Brain · 2016 · 408 citations · Full text

, , +16

Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders

Yun Tian, Junling Wang, Wen Huang et al. · The American Journal of Human Genetics · 2019 · 323 citations · Full text

, , +17

Skin biopsy is useful for the antemortem diagnosis of neuronal intranuclear inclusion disease

Jun Sone, Fumiaki Tanaka, Haruki Koike et al. · Neurology · 2011 · 220 citations

, , +14