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Plos One|October 28, 2016
Brain Connectivity Changes in Autosomal Recessive Parkinson Disease: A Model for the Sporadic FormElena Makovac, Mara Cercignani, Laura Serra, et al.Italian Journal of Pediatrics|July 15, 2022
A dangerous food binge: a case report of hypokalemic periodic paralysis and review of current literatureMaria Carolina Colucci, Marica Fabiana Triolo, Simona Petrucci, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|October 25, 2016
DYT2 screening in early-onset isolated dystoniaMiryam Carecchio, Chiara Reale, Federica Invernizzi, et al.Epilepsia|January 8, 2009
Diffusion-weighted magnetic resonance imaging in patients with partial status epilepticusCarlo Di Bonaventura, Francesca Bonini, Jinane Fattouch, et al.Frontiers in Public Health|July 1, 2025
The Italian public health response during the pandemic emergency: from qualitative data to the "performance index" of care provided by Spoleto HospitalSilvia Caroselli, Martina Roselli, Aldo Germani, et al.Annals of Laboratory Medicine|October 2, 2024
Reanalysis of Next-generation Sequencing Data in Patients With Hypertrophic Cardiomyopathy: Contribution of Spliceogenic MYBPC3 Variants in an Italian CohortSilvia Caroselli, Marco Fabiani, Caterina Micolonghi, et al.Journal of Neuroendocrinology|August 14, 2023
European Neuroendocrine Tumor Society 2023 guidance paper for functioning pancreatic neuroendocrine tumour syndromesJohannes Hofland, Massimo Falconi, Emanuel Christ, et al.Molecular Genetics and Metabolism Reports|September 4, 2023
The role of genetic testing in suspected fulminant myocarditis: A case reportRaffaella Mistrulli, Caterina Micolonghi, Federico Follesa, et al.Current Issues in Molecular Biology|March 28, 2023
A Novel Nonsense Pathogenic TTN Variant Identified in a Patient with Severe Dilated CardiomyopathyCaterina Micolonghi, Marco Fabiani, Erika Pagannone, et al.Human Mutation|December 8, 2025
Reclassification of VUS Using ACMG/AMP Criteria Adapted for Sarcomeric Genes Related to Hypertrophic Cardiomyopathy: Resolution Rate and ConsiderationsSilvia Caroselli, Giulia Corona, Marco Fabiani, et al.Pageof 6