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NOTCH2NLC GGC repeats are not expanded in Italian amyotrophic lateral sclerosis patients.

Scientific reports - 23 Feb 2023

Manini Arianna, Gagliardi Delia, Meneri Megi, Antognozzi Sara, Del Bo Roberto, Comi Giacomo Pietro, Corti Stefania, Ronchi Dario

Abstract excerpt

Repeat expansions in genes other than C9orf72 and ATXN2 have been recently associated with Amyotrophic Lateral Sclerosis (ALS). Indeed, an abnormal number of GGC repeats in NOTCH2NLC has been recently reported in 0.7% of sporadic ALS patients from mainland China. This finding was not confirmed in an ALS cohort of subjects from Taiwan. As the involvement of expanded NOTCH2NLC alleles in ALS is debated, we...

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PMID: 36823368
DOI: 10.1038/s41598-023-30393-6
PMCID: PMC9950471

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