C. D’Eramo

First report of a pathogenic mutation on exon 24 of the NOTCH3 gene in a CADASIL family

L. Pantoni, D. Inzitari, M. Dotti, 2011, Journal of Neurology.

Alu-element insertion in an OPA1 intron sequence associated with autosomal dominant optic atrophy

A. Federico, L. Pavone, E. Cardaioli, 2010, Molecular vision.

The first deep intronic mutation in the NOTCH3 gene in a family with late-onset CADASIL

A. Federico, M. Dotti, A. Bruni, 2013, Neurobiology of Aging.

MOLECULAR NEUROGENETICS OF MITOCHONDRIAL DISEASES

E. Malfatti, A. Federico, E. Cardaioli, 2009 .

An infantile case of Alexander disease unusual for its MRI features and a GFAP allele carrying both the p.Arg79His mutation and the p.Glu223Gln coding variant

A. Federico, M. Dotti, P. Galluzzi, 2009, Journal of Neurology.

High frequency of exon 10 mutations in the NOTCH3 gene in Italian CADASIL families: phenotypic peculiarities

L. Pantoni, D. Inzitari, A. Federico, 2010, Journal of Neurology.

Peripheral neuropathy in late-onset Krabbe disease: report of three cases

A. Federico, A. Malandrini, M. Dotti, 2012, Neurological Sciences.