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Mamede de Carvalho

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Open access Oct 2026

Sex-dependent DNA methylation in amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis (ALS) shows well-established sex differences in incidence, age at onset and progression, but their biological basis is unclear. We hypothesised that the DNA methylation changes associated with ALS differ between the sexes, which would point to sex-specific disease processes. To test this,...

Young Jun Kim, A. Iacoangeli, R. Zwamborn et al. · 0 citations
Open access Sep 2026

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

A new model is developed that is validated across diverse ALS populations, can handle discrepancies between genotyping technologies, and is applicable to individual external samples, and has the potential to extend genetic risk assessment to all individuals, regardless of their family history or the presence of known A...

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

Evidence of stage-specific cognitive reserve effects on longitudinal cognition in amyotrophic lateral sclerosis.

Cognitive reserve appears to exhibit a dynamic, phase-dependent influence in patients and controls, supporting initial cognitive performance and potentially offering subtle protection as disease progresses, highlighting the importance of considering clinical context, time and initial cognition when evaluating CR's role...

Sara Simão, Miguel Oliveira Santos, M. Gromicho et al. · 0 citations

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