Autonomic dysfunction-dominant phenotype in a Chinese family with biallelic GGC repeat expansions in NOTCH2NLC

• Main Authors: Chen, B, Jing, J, Dong, G, Shi, Y, Zhang, C, Zhang, Y, Wang, A, Tai, H, Niu, S, Wang, X, Pan, H, Zhang, Z
• Other Authors: CHINESE STUDIES
• Format: Article
• Published: Springer Science and Business Media LLC 2023
• Subjects: Autonomic dysfunction; Biallelic GGC repeat expansions; Deep medullary veins; NOTCH2NLC; Neuronal intranuclear inclusion disease; Humans; Autonomic Nervous System Diseases; Brain; East Asian People; Intranuclear Inclusion Bodies; Neurodegenerative Diseases; Phenotype; Trinucleotide Repeat Expansion; Nerve Tissue Proteins; Intercellular Signaling Peptides and Proteins
• Online Access: https://scholarbank.nus.edu.sg/handle/10635/243222
• Institution: National University of Singapore

10.1007/s10072-023-06688-x