Articles with "expansion notch2nlc" as a keyword



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GGC Repeat Expansion in NOTCH2NLC is rare in European Leukoencephalopathy.

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Published in 2020 at "Annals of neurology"

DOI: 10.1002/ana.25818

Abstract: through the copyediting, typesetting, pagination and proofreading process which may lead to differences between this version and the Version of Record. Please cite this article as doi: 10.1002/ana.25818 GGC Repeat Expansion in NOTCH2NLC is rare… read more here.

Keywords: ggc repeat; expansion notch2nlc; repeat expansion; european leukoencephalopathy ... See more keywords
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GGC Repeat Expansion of NOTCH2NLC in Taiwanese Patients With Inherited Neuropathies

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Published in 2022 at "Neurology"

DOI: 10.1212/wnl.0000000000013008

Abstract: Background and Objectives The GGC repeat expansion in the 5′ untranslated region of NOTCH2NLC was recently identified as the cause of neuronal intranuclear inclusion disease (NIID), which may manifest with peripheral neuropathy. The aim of… read more here.

Keywords: ggc repeat; expansion notch2nlc; repeat expansion; expansion ... See more keywords