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Clinical Drug Investigation|October 29, 2015
Safety of Overnight Switch from Brand-Name to Generic LevetiracetamMaria Stella Vari, Francesca Pinto, Elisabetta Mencaroni, et al.Biochemical and Biophysical Research Communications|February 18, 2006
A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmyDenise Cassandrini, Maria Grazia Calevo, Alessandra Tessa, et al.Epileptic Disorders : International Epilepsy Journal with Videotape|April 14, 2021
Temporal-parietal-occipital epilepsy in GEFS+ associated with SCN1A mutationAntonella Riva, Antonietta Coppola, Ganna Balagura, et al.Frontiers in Neurology|July 29, 2021
Neuromuscular and Neuroendocrinological Features Associated With ZC4H2-Related Arthrogryposis Multiplex Congenita in a Sicilian Family: A Case ReportGianluca Piccolo, Giuseppe d'Annunzio, Elisabetta Amadori, et al.Human Mutation|May 18, 2004
Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathyAldobrando Broccolini, Enzo Ricci, Denise Cassandrini, et al.Human Mutation|June 21, 2006
McArdle disease: the mutation spectrum of PYGM in a large Italian cohortClaudio Bruno, Denise Cassandrini, Andrea Martinuzzi, et al.American Journal of Human Genetics|August 24, 2010
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsyAntonio Falace, Fabia Filipello, Veronica La Padula, et al.ACS Pharmacology & Translational Science|October 16, 2025
Genetic Deletion of the Purinergic Receptor P2rx7 Worsens the Phenotype of α‑Sarcoglycan Muscular DystrophyCecilia Astigiano, Elisa Principi, Sara Pintus, et al.Biochemical and Biophysical Research Communications|July 31, 2007
Null mutations and lethal congenital form of glycogen storage disease type IVStefania Assereto, Otto P van Diggelen, Luisa Diogo, et al.Journal of Neurology|April 9, 2013
EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvementRoberta Biancheri, Denise Cassandrini, Francesca Pinto, et al.Pageof 20