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Targeted long-read sequencing to quantify methylation of the C9orf72 repeat expansion

21 Dec 2024

Abstract excerpt

BACKGROUND: The gene C9orf72 harbors a non-coding hexanucleotide repeat expansion known to cause amyotrophic lateral sclerosis and frontotemporal dementia. While previous studies have estimated the length of this repeat expansion in multiple tissues, technological limitations have impeded researchers from exploring additional features, such as methylation levels. METHODS: We aimed to characterize C9orf72 repeat...

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

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 39709476
DOI: 10.1186/s13024-024-00790-0

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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