NOTCH2NLC GGC repeat expansion causes retinal pathology with intranuclear inclusions throughout the retina and causes visual impairment

The retinal pathology of genetically confirmed neuronal intranuclear inclusion disease (NIID) is yet unknown. We report the ocular findings in four NIID patients with NOTCH2NLC GGC repeat expansion to investigate the pathology of retinopathy. All four NIID patients were diagnosed by skin biopsy and...

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Detalles Bibliográficos
Autores principales: Sone, Jun, Ueno, Shinji, Akagi, Akio, Miyahara, Hiroaki, Tamai, Chisato, Riku, Yuichi, Yabata, Hiroyuki, Koizumi, Ryuichi, Hattori, Tomohiro, Hirose, Hiroshi, Koyanagi, Yoshito, Kobayashi, Rei, Okada, Hisashi, Kishimoto, Yoshiyuki, Hashizume, Yoshio, Sobue, Gen, Yoshida, Mari, Iwasaki, Yasushi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10152767/
https://www.ncbi.nlm.nih.gov/pubmed/37131242
http://dx.doi.org/10.1186/s40478-023-01564-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10152767/
https://www.ncbi.nlm.nih.gov/pubmed/37131242
http://dx.doi.org/10.1186/s40478-023-01564-3

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