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Author

Diego D'Angeli

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Open access Oct 2026

Cerebellar involvement in sporadic amyotrophic lateral sclerosis: a magnetic resonance spectroscopy study

Abstract Amyotrophic lateral sclerosis is increasingly recognized as a multisystem neurodegenerative disorder, and recent evidence suggests that the cerebellum may contribute to disease pathology, although cerebellar metabolic alterations have not previously been demonstrated in vivo. This study investigated cerebellar...

G. Vornetti, F. Punzetti, V. Vacchiano et al. · 0 citations
Case report Open access Aug 2026

Phenotypic and Molecular Features of a Large ODDD Family: Expanding the Spectrum of CX43-Related Disorder

This case highlights the wide phenotypic spectrum of CX43-related disorders and suggests the importance of testing the GJA1 gene in individuals with atypical presentations, including predominant or isolated neurological phenotypes such as late-onset spastic paraplegia.

Irene Ambrosetti, F. Palombo, Diego D'Angeli et al. · 0 citations

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