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Author

F. Nicita

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Open access Sep 2026

Lipid signature in X-ALD: a comparison between phenotypes

X-linked adrenoleukodystrophy (X-ALD) has highly variable phenotypes with no known genotype/phenotype correlation or method for predicting the course of the disease. Screening for X-ALD allows for early, potentially lifesaving treatment of adrenal insufficiency and cerebral demyelination, possibly useful to detect...

A. di Veroli, S. Petrillo, Caterina Torda et al. · 0 citations
Open access Aug 2026

Novel heterozygous truncating variant in TUBB associated with thrombocytopaenia and neurological abnormalities

It is indicated that reduced protein stability and functional impairment of β-tubulin represent key pathogenic mechanisms underlying this condition, and the experimental evidence further supports the implication of TUBB dysfunctions in haematological abnormalities.

Ilaria Svezia, Riccardo Zocchi, Michela Piccione et al. · 0 citations

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