Neuronal intranuclear inclusion disease with multisystem involvement after long-term bladder dysfunction: a case report
Author:
Funder
National Natural Science Foundation of China
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s13760-023-02469-7.pdf
Reference5 articles.
1. Sone J, Mori K, Inagaki T et al (2016) Clinicopathological features of adult-onset neuronal intranuclear inclusion disease. Brain 139(Pt 12):3170–3186. https://doi.org/10.1093/brain/aww249
2. Sun QY, Xu Q, Tian Y et al (2020) Expansion of GGC repeat in the human-specific NOTCH2NLC gene is associated with essential tremor. Brain 143(1):222–233. https://doi.org/10.1093/brain/awz372
3. Boivin M, Deng J, Pfister V et al (2021) Translation of GGC repeat expansions into a toxic polyglycine protein in NIID defines a novel class of human genetic disorders: The polyG diseases. Neuron 109(11):1825-1835.e5. https://doi.org/10.1016/j.neuron.2021.03.038
4. Liu Y, Li H, Liu X et al (2022) Clinical and mechanism advances of neuronal intranuclear inclusion disease. Front Aging Neurosci 14:934725. https://doi.org/10.3389/fnagi.2022.934725
5. Tian Y, Zhou L, Gao J et al (2022) Clinical features of NOTCH2NLC-related neuronal intranuclear inclusion disease. J Neurol Neurosurg Psychiatry 93(12):1289–1298. https://doi.org/10.1136/jnnp-2022-329772
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