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NOTCH2NLC mutation-positive neuronal intranuclear inclusion disease with retinal dystrophy: A case report and literature review

Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder that produces a broad spectrum of clinical conditions such as dementia, upper motor neuron involvement, extrapyramidal symptoms, and neuropathy. Some studies have reported ophthalmological conditions associated with the d...

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Detalles Bibliográficos
Autores principales:	Katayama, Takayuki, Takahashi, Kae, Yahara, Osamu, Sawada, Jun, Ishida, Ken-ichi, Asanome, Asuka, Endo, Hisako, Saito, Tsukasa, Hasebe, Naoyuki, Kishibe, Mari, Kanno, Harumi, Ishiko, Satoshi, Sone, Jun
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Lippincott Williams & Wilkins 2023
Materias:	5300
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10174370/ https://www.ncbi.nlm.nih.gov/pubmed/37171294 http://dx.doi.org/10.1097/MD.0000000000033789

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