S. Salvatore

Brain MRI features and scoring of leukodystrophy in adult-onset Krabbe disease.

C. Laule, F. Viader, N. Pyatigorskaya, 2019, Neurology.

A Novel CSF1R Mutation in a Patient with Clinical and Neuroradiological Features of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids.

A. Federico, M. Dotti, A. Brusco, 2015, Journal of Alzheimer's disease : JAD.

Is myopathy with rimmed vacuoles a hallmark of juvenile neuronal ceroid lipofuscinosis (CLN3)?

M. Lo Giudice, A. Malandrini, S. Musumeci, 2016, Neurological Sciences.

Revisiting mitochondrial ocular myopathies: a study from the Italian Network

G. Comi, M. Zeviani, M. Mancuso, 2017, Journal of Neurology.

Next-generation sequencing approach to hyperCKemia

E. Mercuri, A. Federico, G. Siciliano, 2019, Neurology: Genetics.

Fibroblast growth factor 21 and grow differentiation factor 15 are sensitive biomarkers of mitochondrial diseases due to mitochondrial transfer-RNA mutations and mitochondrial DNA deletions

M. Mancuso, A. Federico, G. Siciliano, 2020, Neurological Sciences.

Paroxysmal supraventricular tachycardia in anti-musk Myasthenia gravis: A case report

A. Federico, G. Ruocco, C. Battisti, 2016, Journal of the Neurological Sciences.