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Author

Stefania Corti

2 papers indexed here

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Oct 2026

White matter hyperintensity burden in amyotrophic lateral sclerosis: motor and survival correlates.

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder characterized by progressive motor neuron degeneration. Microvascular dysfunction has been implicated by recent research in ALS pathogenesis and motor neuron vulnerability. The aim of this study is to investigate whether MRI markers of white matt...

A. de Lorenzo, A. Maranzano, A. Cocuzza et al. · 0 citations
Sep 2026

PABPN1 pathogenic expansion in the UK Biobank: reframing genetic prevalence of oculopharyngeal muscular dystrophy.

BACKGROUND Oculopharyngeal muscular dystrophy (OPMD) is a rare, late-onset, mostly autosomal dominant muscular dystrophy caused by a trinucleotide GCN repeat expansion in PABPN1. OPMD affects approximately 1:100 000 individuals in Europe, with substantially higher prevalence in specific founder populations. Pathogenic...

C. Villella, Delia Gagliardi, Enrico Sebastiani et al. · 0 citations

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