Autonomic dysfunction-dominant phenotype in a Chinese family with biallelic GGC repeat expansions in NOTCH2NLC
Author:
Publisher
Springer Science and Business Media LLC
Subject
Psychiatry and Mental health,Neurology (clinical),Dermatology,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s10072-023-06688-x.pdf
Reference10 articles.
1. Sone J, Mori K, Inagaki T et al (2016) Clinicopathological features of adult-onset neuronal intranuclear inclusion disease. Brain 139:3170–3186
2. Sone J, Mitsuhashi S, Fujita A et al (2019) Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease. Nat Genet 51:1215–1221
3. Ogasawara M, Iida A, Kumutpongpanich T et al (2020) CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations. Acta Neuropathol Commun 8:204
4. Yu J, Deng J, Guo X et al (2021) The GGC repeat expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy type 3. Brain 144:1819–1832
5. Tian Y, Zhou L, Gao J et al (2022) Clinical features of NOTCH2NLC-related neuronal intranuclear inclusion disease. J Neurol Neurosurg Psychiatry 93:1289–1298
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