The Value of NOTCH2NLC Gene Detection and Skin Biopsy in the Diagnosis of Neuronal Intranuclear Inclusion Disease

The clinical manifestations of neuronal intranuclear inclusion disease (NIID) are heterogeneous, and the premortem diagnosis is mainly based on skin biopsy findings. Abnormal GGC repeat expansions in NOTCH2NLC was recently identified in familial and sporadic NIID. The comparison of diagnostic value...

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Detalles Bibliográficos
Autores principales: Pang, Jie, Yang, Jing, Yuan, Yanpeng, Gao, Yuan, Shi, Changhe, Fan, Shiheng, Xu, Yuming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8129528/
https://www.ncbi.nlm.nih.gov/pubmed/34017298
http://dx.doi.org/10.3389/fneur.2021.624321

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8129528/
https://www.ncbi.nlm.nih.gov/pubmed/34017298
http://dx.doi.org/10.3389/fneur.2021.624321

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