Author

D. Mei

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Open access Aug 2026

Associations of Cortical and Subcortical White Matter Morphometric Abnormalities With Clinical and Genetic Findings in STXBP1 Encephalopathy

Cortical dyslamination is suggested as the architectural substrate for the abnormal morphometric parameters and reduced surface areas in patients with STXBP1 encephalopathy, suggesting cortical dyslamination as the architectural substrate for the abnormal morphometric parameters and reduced surface areas.

M. Lenge, Alice Dainelli, S. Balestrini et al. · Neurology: Genetics · 0 citations

Case report Open access Aug 2026

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development.

The father-to-daughter transmission of a novel constitutional TUBB variant, alongside literature review of constitutional and mosaic tubulinopathies, suggest that pathogenic germline TUBB variants can occasionally be inherited.

E. Cellini, D. Mei, Mara Cavallin et al. · American Journal of Medical... · 0 citations

Review Aug 2026

Expanding the clinical and molecular spectrum of SETD5, NEDD4L, and TBL1X related disorders: A case report and literature review.

To the authors' knowledge, this is the first report of such a unique overlap, highlighting the importance of considering multilocus genomic variation in heterogeneous neurodevelopmental presentations.

M. Cassone, A. Moschella, D. Mei et al. · Gene · 0 citations

Open access Aug 2026

Biallelic protein truncating EXOSC6 variants cause a neurodevelopmental disorder with cerebellar atrophy, ataxia, and global developmental delay

A patient with cerebellar atrophy, ataxia, and global developmental delay is described, and trio exome sequencing identified compound heterozygous variants in the final subunit EXOSC6.

Khondakar Sayef Ahammed, Renzo Guerrini, Milo B. Fasken et al. · medRxiv · 0 citations