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Author

O. Hardiman

2 papers indexed here

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Open access Sep 2026

Towards a deep-learning genomic tool for risk stratification and diagnostic support in sporadic ALS

A variety of common and rare genetic factors have been implicated in the development of amyotrophic lateral sclerosis (ALS), and the evidence is that a genetic component is present in most affected individuals. However, our current understanding of ALS genetics causally explains only a small proportion of sporadi...

Jia-Jing Hu, Oliver Pain, A. Al Khleifat et al. · 0 citations
Aug 2026

Cognitive and behavioral manifestations of the C9orf72 mutation in Amyotrophic Lateral Sclerosis: an age, education, and gender-matched cohort study.

OBJECTIVES The presence of a hexanucleotide expansion in the gene C9orf72 confers a higher risk of developing ALS and FTD with associated cognitive and behavioral change, although penetrance is incomplete, and many gene carriers never exhibit any clinical signs during their lifetime. To date, there have been few studie...

Seán O'Farrell, Maria Christina Holland, C. Peelo et al. · 0 citations

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