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Comment
. 2021 Apr;8(4):994-1001.
doi: 10.1002/acn3.51332. Epub 2021 Mar 29.

Genetic heterogeneity of neuronal intranuclear inclusion disease: What about the infantile variant?

Jakub Sikora  1   2 , Ivana Jedlickova  1 , Anna Pristoupilova  1 , Viktor Stranecky  1 , Tomas Honzik  1
Affiliations
Comment

Genetic heterogeneity of neuronal intranuclear inclusion disease: What about the infantile variant?

Jakub Sikora et al. Ann Clin Transl Neurol. 2021 Apr.
No abstract available

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Conflict of interest statement

All authors report no disclosures.

Comment in

Comment on

  • Neuronal intranuclear inclusion disease is genetically heterogeneous.
    Chen Z, Yan Yau W, Jaunmuktane Z, Tucci A, Sivakumar P, Gagliano Taliun SA, Turner C, Efthymiou S, Ibáñez K, Sullivan R, Bibi F, Athanasiou-Fragkouli A, Bourinaris T, Zhang D, Revesz T, Lashley T, DeTure M, Dickson DW, Josephs KA, Gelpi E, Kovacs GG, Halliday G, Rowe DB, Blair I, Tienari PJ, Suomalainen A, Fox NC, Wood NW, Lees AJ, Haltia MJ; Genomics England Research Consortium; Hardy J, Ryten M, Vandrovcova J, Houlden H. Chen Z, et al. 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.

References

    1. Chen Z, Yan Yau W, Jaunmuktane Z, et al. Neuronal intranuclear inclusion disease is genetically heterogeneous. Ann Clin Transl Neurol. 2020;7(9):1716–1725. - PMC - PubMed
    1. 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(8):1215–1221. - PubMed
    1. 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(8):1222–1232. - PubMed
    1. Tian Y, Wang JL, Huang W, et al. Expansion of human‐specific GGC repeat in neuronal intranuclear inclusion disease‐related disorders. Am J Hum Genet. 2019;105(1):166–176. - PMC - PubMed
    1. Deng J, Gu M, Miao Y, et al. Long‐read sequencing identified repeat expansions in the 5'UTR of the NOTCH2NLC gene from Chinese patients with neuronal intranuclear inclusion disease. J Med Genet. 2019;56(11):758–764. - PubMed

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