Reply to: No evidence supports genetic heterogeneity of neuronal intranuclear inclusion disease
- PMID: 33124767
- PMCID: PMC7732245
- DOI: 10.1002/acn3.51222
Reply to: No evidence supports genetic heterogeneity of neuronal intranuclear inclusion disease
Keywords: genetic heterogeneity; neuronal intranuclear inclusion disease.
Conflict of interest statement
The authors declare no competing interests.
Comment on
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Neuronal intranuclear inclusion disease is genetically heterogeneous.Ann Clin Transl Neurol. 2020 Sep;7(9):1716-1725. doi: 10.1002/acn3.51151. Epub 2020 Aug 10. Ann Clin Transl Neurol. 2020. PMID: 32777174 Free PMC article.
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No evidence supports the genetic heterogeneity of Neuronal intranuclear inclusion disease.Ann Clin Transl Neurol. 2020 Dec;7(12):2542-2543. doi: 10.1002/acn3.51223. Epub 2020 Oct 30. Ann Clin Transl Neurol. 2020. PMID: 33124781 Free PMC article. No abstract available.
References
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- Ishiura H, Shibata S, Yoshimura J, et al. Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease. Nat Genet 2019;51:1222–1232. - PubMed
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- Sone J, Mitsuhashi S, Fujita A, et al. Long‐read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease. Nat Genet 2019;51:1215–1221. - PubMed
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- Warman Chardon J, Beaulieu C, Hartley T, et al. Axons to exons: the molecular diagnosis of rare neurological diseases by next‐generation sequencing. Curr Neurol Neurosci Rep 2015;15:64. - PubMed
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