Identification of GGC repeat expansion in the <i>NOTCH2NLC</i> gene in amyotrophic lateral sclerosis

202079 citationsJournal Article

Authors

Yanchun Yuan · Central South University

Zhen Liu · Central South University

Xuan Hou · Central South University

Wanzhen Li · Central South University

Jie Ni · Central South University

Ling Huang · Central South University

Yiting Hu ·

Abstract

Our results suggest that ALS is a specific phenotype of NIID or that GGC expansion in <i>NOTCH2NLC</i> is a factor that modifies ALS. These findings may help clarify the pathogenic mechanism of ALS and may expand the known clinical spectrum of NIID.

Topics & Keywords

Amyotrophic Lateral Sclerosis Research Neurogenetic and Muscular Disorders Research Genetic Neurodegenerative Diseases

Publication Details

Published in: Neurology

Volume 95, Issue 24, pp. e3394-e3405

DOI: 10.1212/wnl.0000000000010945

Field-Weighted Citation Impact: 5.30

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Identification of GGC repeat expansion in the <i>NOTCH2NLC</i> gene in amyotrophic lateral sclerosis

Authors

Abstract

Topics & Keywords

Publication Details