Background: BRAT1-related disorders constitute a continuous neurodevelopmental spectrum ranging from rigidity and multifocal seizure syndrome, lethal neonatal form (RMFSL) to milder phenotypes characterized by cerebellar involvement and variable developmental impairment. Genotype–phenotype correlations remain incomplet...
Camilla Meossi, Lorenzo Cipriano, Flavio Dal Canto et al.· Medical Science· 0 citations
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
The findings expand the evidence that pathogenic MECP2 variants can produce neurological phenotypes distinct from classic RTT, including mild neurodevelopmental impairment without regression, and predominantly cerebellar or spastic-ataxic manifestations associated with limited cognitive involvement.
Camilla Meossi, Alessandro De Falco, Deianira Rinaldi et al.· Journal of Neurology· 0 citations
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
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