Author

D. Galatolo

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Case report Aug 2026

Expanding the ABCD1 mutation spectrum: a novel variant in X-linked adrenomyeloneuropathy

The first reported case of AMN associated with the novel ABCD1 c.1922G > T (p.Gly641Val) variant is described, expanding the mutational spectrum of X-ALD.

Valentina Barone, A. Borghi, Alessandro Vaisfeld et al. · Neurological Sciences · 0 citations

Jul 2026

Neurodevelopmental alterations are key drivers of SPG56.

Combined transcriptomics profiling in cyp2u1-/- zebrafish and SPG56 patient iPSC-derived cortical neurons supports impaired neural network development as a key disease mechanism.

D. Galatolo, Devid Damiani, V. Naef et al. · Human Molecular Genetics · 0 citations