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Archives of Neurology|October 13, 2006
POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrumRoberta Biancheri, Enrico Bertini, Antonio Falace, et al.Biochemical and Biophysical Research Communications|January 25, 2006
Somatic and germline mosaicisms in severe myoclonic epilepsy of infancyElena Gennaro, Filippo M Santorelli, Enrico Bertini, et al.Biochemical and Biophysical Research Communications|March 15, 2008
Clinical and genetic characterization of Chanarin-Dorfman syndromeClaudio Bruno, Enrico Bertini, Maja Di Rocco, et al.Cell Cycle (Georgetown, Tex.)|December 3, 2011
Hyperactivation of oxidative mitochondrial metabolism in epithelial cancer cells in situ: visualizing the therapeutic effects of metformin in tumor tissueDiana Whitaker-Menezes, Ubaldo E Martinez-Outschoorn, Neal Flomenberg, et al.FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|February 1, 2007
Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progressionMario Pescatori, Aldobrando Broccolini, Carlo Minetti, et al.Journal of Neurology|February 20, 2022
Ocular phenotype and electroretinogram abnormalities in Lafora disease and correlation with disease stageAlessandro Orsini, Daniele Ferrari, Antonella Riva, et al.Neurology. Genetics|April 12, 2016
Novel GABRG2 mutations cause familial febrile seizuresMorgane Boillot, Mélanie Morin-Brureau, Fabienne Picard, et al.Frontiers in Neurology|October 22, 2021
The Role of Muscle Biopsy in Diagnostic Process of Infant Hypotonia: From Clinical Classification to the Genetic OutcomeMarco Veneruso, Chiara Fiorillo, Paolo Broda, et al.Brain : a Journal of Neurology|October 28, 2025
Muscle transcriptomics of alpha-sarcoglycanopathy highlights inflammatory pathways driving diseaseAdriana Amaro, Francesco Reggiani, Chiara Panicucci, et al.Italian Journal of Pediatrics|July 8, 2020
Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the 'beyond epilepsy' projectElisabetta Amadori, Marcello Scala, Giulia Sofia Cereda, et al.Pageof 20