F. M. Santorelli

Neuronal Ceroid Lipofuscinosis: The Increasing Spectrum of an Old Disease.

F. Santorelli, A. Simonati, F. Moro, 2014, Current molecular medicine.

Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings

C. Bruno, F. Santorelli, C. Minetti, 2019, neurogenetics.

Fatal infantile leukodystrophy

C. Bosman, R. Boldrini, E. Bertini, 2001, Neurology.

Neuronal Ceroid Lipofuscinosis: An Ultrastructural, Genetic, and Clinical Study Report

C. Bosman, R. Boldrini, F. Santorelli, 2001, Ultrastructural pathology.

Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency

G. Comi, G. Vasco, F. Bianco, 2012, Neuromuscular Disorders.

Revisiting mitochondrial ocular myopathies: a study from the Italian Network

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

Limb-girdle muscular dystrophy with α-dystroglycan deficiency and mutations in the ISPD gene

C. Bruno, F. Santorelli, E. Ricci, 2013, Neurology.