Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2022 Oct;37(10):2161-2162.
doi: 10.1002/mds.29155. Epub 2022 Jul 22.

Profiling the NOTCH2NLC GGC Repeat Expansion in Parkinson's Disease in the European Population

Affiliations

Profiling the NOTCH2NLC GGC Repeat Expansion in Parkinson's Disease in the European Population

Kimberley J Billingsley et al. Mov Disord. 2022 Oct.
No abstract available

PubMed Disclaimer

Conflict of interest statement

Relevant conflicts of interest/financial disclosures: The authors declare that they have no conflict of interest.

References

    1. Sone J, Mitsuhashi S, Fujita A, et al. Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease. Nature Genetics 2019;51:1215–1221. - 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. Nature Genetics 2019;51:1222–1232. - PubMed
    1. Yau WY, Vandrovcova J, Sullivan R, et al. Low prevalence of NOTCH2NLC GGC repeat expansion in white patients with movement disorders. Mov. Disord 2021;36:251–255. - PMC - PubMed
    1. Billingsley, Dewan JKR, Malik L, Alvarez Jerez P. et al. Processing human frontal cortex brain tissue for population-scale Oxford Nanopore long-read DNA sequencing SOP v1. (2021) doi: 10.17504/protocols.io.b2ucqesw. - DOI
    1. Ibañez K, Polke J, Hagelstrom RT, et al. Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study. Lancet Neurol. 2022;21:234–245. - PMC - PubMed

Publication types

MeSH terms