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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Bibliographische Detailangaben
Veröffentlicht in:Front Neurol
Hauptverfasser: Pang, Jie, Yang, Jing, Yuan, Yanpeng, Gao, Yuan, Shi, Changhe, Fan, Shiheng, Xu, Yuming
Format: Artigo
Sprache:Inglês
Veröffentlicht: Frontiers Media S.A. 2021
Schlagworte:
Neurology
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8129528/
https://ncbi.nlm.nih.gov/pubmed/34017298
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fneur.2021.624321
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