Tackling Dysfunction of Mitochondrial Bioenergetics in the Brain by Paola Zanfardino, Stefano Doccini, Filippo M. Santorelli, Vittoria Petruzzella

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Integrative human and murine multi-omics: Highlighting shared biomarkers in the neuronal ceroid lipofuscinoses by N. Gammaldi, F. Pezzini, E. Michelucci, N. Di Giorgi, A. Simonati, S. Rocchiccioli, F.M. Santorelli, S. Doccini

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Short-Term Effects of Human versus Bovine Sialylated Milk Oligosaccharide Microinjection on Zebrafish Larvae Survival, Locomotor Behavior and Gene Expression by Rosario Licitra, Valentina Naef, Maria Marchese, Devid Damiani, Asahi Ogi, Stefano Doccini, Baldassare Fronte, Jingyu Yan, Filippo M. Santorelli

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Integrative Organelle-Based Functional Proteomics: In Silico Prediction of Impaired Functional Annotations in <i>SACS</i> KO Cell Model by Federica Morani, Stefano Doccini, Daniele Galatolo, Francesco Pezzini, Rabah Soliymani, Alessandro Simonati, Maciej M. Lalowski, Federica Gemignani, Filippo M. Santorelli

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Tumor Suppressor Role of hsa-miR-193a-3p and -5p in Cutaneous Melanoma by Beatrice Polini, Sara Carpi, Stefano Doccini, Valentina Citi, Alma Martelli, Sara Feola, Filippo Maria Santorelli, Vincenzo Cerullo, Antonella Romanini, Paola Nieri

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Electrophysiological Profile Remodeling via Selective Suppression of Voltage-Gated Currents by CLN1/PPT1 Overexpression in Human Neuronal-Like Cells by Gian Carlo Demontis, Francesco Pezzini, Elisa Margari, Marzia Bianchi, Biancamaria Longoni, Stefano Doccini, Maciej Maurycy Lalowski, Filippo Maria Santorelli, Alessandro Simonati

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Converging Role for REEP1/SPG31 in Oxidative Stress by Valentina Naef, Maria C. Meschini, Alessandra Tessa, Federica Morani, Debora Corsinovi, Asahi Ogi, Maria Marchese, Michela Ori, Filippo M. Santorelli, Stefano Doccini

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Expanding the clinical and genetic heterogeneity of SPAX5 by Claudia Dosi, Daniele Galatolo, Anna Rubegni, Stefano Doccini, Rosa Pasquariello, Claudia Nesti, Federico Sicca, Melissa Barghigiani, Roberta Battini, Alessandra Tessa, Filippo M. Santorelli

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Efficient Neuroprotective Rescue of Sacsin-Related Disease Phenotypes in Zebrafish by Valentina Naef, Maria Marchese, Asahi Ogi, Gianluca Fichi, Daniele Galatolo, Rosario Licitra, Stefano Doccini, Tiziano Verri, Francesco Argenton, Federica Morani, Filippo M. Santorelli

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Evaluation of Chromosome Microarray Analysis in a Large Cohort of Females with Autism Spectrum Disorders: A Single Center Italian Study by Sara Calderoni, Ivana Ricca, Giulia Balboni, Romina Cagiano, Denise Cassandrini, Stefano Doccini, Angela Cosenza, Deborah Tolomeo, Raffaella Tancredi, Filippo Maria Santorelli, Filippo Muratori

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Evaluation of the therapeutic potential of resveratrol-loaded nanostructured lipid carriers on autosomal recessive spastic ataxia of Charlevoix-Saguenay patient-derived fibroblasts by Özlem Şen, Melis Emanet, Attilio Marino, Melike Belenli Gümüş, Martina Bartolucci, Stefano Doccini, Federico Catalano, Giada Graziana Genchi, Filippo Maria Santorelli, Andrea Petretto, Gianni Ciofani

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Novel <i>COX11</i> Mutations Associated with Mitochondrial Disorder: Functional Characterization in Patient Fibroblasts and <i>Saccharomyces cerevisiae</i> by Chenelle A. Caron-Godon, Stefania Della Vecchia, Alessandro Romano, Stefano Doccini, Flavio Dal Canto, Rosa Pasquariello, Anna Rubegni, Roberta Battini, Filippo Maria Santorelli, D. Moira Glerum, Claudia Nesti

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Tanshinone IIA and Cryptotanshinone Counteract Inflammation by Regulating Gene and miRNA Expression in Human SGBS Adipocytes by Sara Carpi, Stefano Quarta, Stefano Doccini, Anella Saviano, Noemi Marigliano, Beatrice Polini, Marika Massaro, Maria Annunziata Carluccio, Nadia Calabriso, Martin Wabitsch, Filippo Maria Santorelli, Marco Cecchini, Francesco Maione, Paola Nieri, Egeria Scoditti

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Lysosomal Proteomics Links Disturbances in Lipid Homeostasis and Sphingolipid Metabolism to CLN5 Disease by Stefano Doccini, Maria Marchese, Federica Morani, Nicola Gammaldi, Serena Mero, Francesco Pezzini, Rabah Soliymani, Melissa Santi, Giovanni Signore, Asahi Ogi, Silvia Rocchiccioli, Katja M. Kanninen, Alessandro Simonati, Maciej M. Lalowski, Filippo M. Santorelli

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The Diagnostic Approach to Mitochondrial Disorders in Children in the Era of Next-Generation Sequencing: A 4-Year Cohort Study by Deborah Tolomeo, Daniele Orsucci, Claudia Nesti, Jacopo Baldacci, Roberta Battini, Claudio Bruno, Giorgia Bruno, Denise Cassandrini, Stefano Doccini, M. Alice Donati, Annarita Ferrari, Simona Fiori, Chiara Fiorillo, Renzo Guerrini, Francesco Mari, Martino Montomoli, Francesca Pochiero, Elena Procopio, Lucia Ruggiero, Simone Sampaolo, Federico Sicca, Chiara Ticci, Anna Rubegni, Filippo M. Santorelli

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A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing by Gemma Marinella, Guja Astrea, Bianca Buchignani, Denise Cassandrini, Stefano Doccini, Massimiliano Filosto, Daniele Galatolo, Salvatore Gallone, Fabio Giannini, Diego Lopergolo, Maria Antonietta Maioli, Francesca Magri, Alessandro Malandrini, Paola Mandich, Francesco Mari, Roberto Massa, Sabrina Mata, Federico Melani, Maurizio Moggio, Tiziana E. Mongini, Rosa Pasquariello, Elena Pegoraro, Federica Ricci, Giulia Ricci, Carmelo Rodolico, Anna Rubegni, Gabriele Siciliano, Martina Sperti, Chiara Ticci, Paola Tonin, Filippo M. Santorelli, Roberta Battini

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A registry for Dravet syndrome: The Italian experience by Simona Balestrini, Viola Doccini, Sabrina Giometto, Ersilia Lucenteforte, Salvatore De Masi, Elisa Giarola, Isabella Brambilla, Federica Pieroni, Marco Perulli, Domenica Battaglia, Nicola Specchio, Francesca Ragona, Tiziana Granata, Simona Pellacani, Annarita Ferrari, Carla Marini, Sara Matricardi, Elisabetta Cesaroni, Lucio Giordano, Patrizia Accorsi, Vittorio Sciruicchio, Paolo Tinuper, Tullio Messana, Angelo Russo, Dario Pruna, Margherita Nosadini, Valentina De Giorgis, Davide Caputo, Residras Collaboration Group, Serena Pellegrin, Tommaso Lo Barco, Francesca Darra, Bernardo Dalla Bernardina, Renzo Guerrini

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Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial Diseases by Chiara Ticci, Daniele Orsucci, Anna Ardissone, Luca Bello, Enrico Bertini, Irene Bonato, Claudio Bruno, Valerio Carelli, Daria Diodato, Stefano Doccini, Maria Alice Donati, Claudia Dosi, Massimiliano Filosto, Chiara Fiorillo, Chiara La Morgia, Costanza Lamperti, Silvia Marchet, Diego Martinelli, Carlo Minetti, Maurizio Moggio, Tiziana Enrica Mongini, Vincenzo Montano, Isabella Moroni, Olimpia Musumeci, Elia Pancheri, Elena Pegoraro, Guido Primiano, Elena Procopio, Anna Rubegni, Roberta Scalise, Monica Sciacco, Serenella Servidei, Gabriele Siciliano, Costanza Simoncini, Deborah Tolomeo, Paola Tonin, Antonio Toscano, Flavia Tubili, Michelangelo Mancuso, Roberta Battini, Filippo Maria Santorelli

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Using Cluster Analysis to Overcome the Limits of Traditional Phenotype–Genotype Correlations: The Example of <i>RYR1</i>-Related Myopathies by Claudia Dosi, Anna Rubegni, Jacopo Baldacci, Daniele Galatolo, Stefano Doccini, Guja Astrea, Angela Berardinelli, Claudio Bruno, Giorgia Bruno, Giacomo Pietro Comi, Maria Alice Donati, Maria Teresa Dotti, Massimiliano Filosto, Chiara Fiorillo, Fabio Giannini, Gian Luigi Gigli, Marina Grandis, Diego Lopergolo, Francesca Magri, Maria Antonietta Maioli, Alessandro Malandrini, Roberto Massa, Sabrina Matà, Federico Melani, Sonia Messina, Andrea Mignarri, Maurizio Moggio, Elena Maria Pennisi, Elena Pegoraro, Giulia Ricci, Michele Sacchini, Angelo Schenone, Simone Sampaolo, Monica Sciacco, Gabriele Siciliano, Giorgio Tasca, Paola Tonin, Rossella Tupler, Mariarosaria Valente, Nila Volpi, Denise Cassandrini, Filippo Maria Santorelli

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