Heterogenous Genetic, Clinical, and Imaging Features in Patients with Neuronal Intranuclear Inclusion Disease Carrying NOTCH2NLC Repeat Expansion

Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder that is caused by the abnormal expansion of non-coding trinucleotide GGC repeats in NOTCH2NLC. NIID is clinically characterized by a broad spectrum of clinical presentations. To date, the relationship between expanded rep...

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Detalles Bibliográficos
Autores principales: Fitrah, Yusran Ady, Higuchi, Yo, Hara, Norikazu, Tokutake, Takayoshi, Kanazawa, Masato, Sanpei, Kazuhiro, Taneda, Tomone, Nakajima, Akihiko, Koide, Shin, Tsuboguchi, Shintaro, Watanabe, Midori, Fukumoto, Junki, Ando, Shoichiro, Sato, Tomoe, Iwafuchi, Yohei, Sato, Aki, Hayashi, Hideki, Ishiguro, Takanobu, Takeda, Hayato, Takahashi, Toshiaki, Fukuhara, Nobuyoshi, Kasuga, Kensaku, Miyashita, Akinori, Onodera, Osamu, Ikeuchi, Takeshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10296744/
https://www.ncbi.nlm.nih.gov/pubmed/37371433
http://dx.doi.org/10.3390/brainsci13060955

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