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Essential tremor as the early symptom of NOTCH2NLC gene-related repeat expansion disorder

20 Apr 2020

Abstract excerpt

We read with great interest the recent article by Sun et al. titled ‘Expansion of GGC repeat in the human-specific NOTCH2NLC gene is associated with essential tremor’, which reported that abnormal GGC repeat expansion in the NOTCH2NLC gene was found in 11 families from a cohort study of 197 Chinese pedigrees clinically diagnosed with essential tremor (Sun et al., 2020). A recent work from the same group showed...

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PMID: 32449905
DOI: 10.1093/brain/awaa142

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Expansion of GGC repeat in the human-specific NOTCH2NLC gene is associated with essential tremorSemantic proximity Read ↗

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