Clinical and neurophysiological characteristics of heterozygous NPC1 carriers

Clinical and neurophysiological characteristics of heterozygous NPC1 carriers

Abstract Niemann‐Pick disease type C (NPC) is an uncommon lysosomal storage disorder, which is characterized neuropathologically by cholinergic dysfunction and presents clinically with a broad series of neurological signs and symptoms. NPC is inherited as an autosomal recessive trait, caused by muta...

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Bibliographic Details
Main Authors: Alberto Benussi, Maria S. Cotelli, Valentina Cantoni, Valeria Bertasi, Marinella Turla, Andrea Dardis, Jessica Biasizzo, Rosa Manenti, Maria Cotelli, Alessandro Padovani, Barbara Borroni
Format: Article
Language:English
Published: Wiley 2019-09-01
Series:JIMD Reports
Subjects:
acetylcholine
cognition
executive functions
heterozygous
Niemann‐Pick disease type C
short latency afferent inhibition
Online Access:https://doi.org/10.1002/jmd2.12059

Internet

https://doi.org/10.1002/jmd2.12059

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