Looking back at the neonatal period in early-treated phenylketonuric patients von Leuzzi, Vincenzo, Nardecchia, Francesca

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Acute ischemic stroke in childhood: a comprehensive review von Mastrangelo, Mario, Giordo, Laura, Ricciardi, Giacomina, De Michele, Manuela, Toni, Danilo, Leuzzi, Vincenzo

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Caenorhabditis elegans provides an efficient drug screening platform for GNAO1-related disorders and highlights the potential role of caffeine in controlling dyskinesia von Di Rocco, Martina, Galosi, Serena, Lanza, Enrico, Tosato, Federica, Caprini, Davide, Folli, Viola, Friedman, Jennifer, Bocchinfuso, Gianfranco, Martire, Alberto, Di Schiavi, Elia, Leuzzi, Vincenzo, Martinelli, Simone

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White matter pathology in phenylketonuria von Anderson, Peter J., Leuzzi, Vincenzo

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Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review von Spagnoli, Carlotta, Fusco, Carlo, Percesepe, Antonio, Leuzzi, Vincenzo, Pisani, Francesco

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Key European guidelines for the diagnosis and management of patients with phenylketonuria von van Spronsen, Francjan J, Prof, van Wegberg, Annemiek MJ, MSc, Ahring, Kirsten, MSc, Bélanger-Quintana, Amaya, MD, Blau, Nenad, Prof, Bosch, Annet M, MD, Burlina, Alberto, MD, Campistol, Jaime, Prof, Feillet, Francois, Prof, Giżewska, Maria, MD, Huijbregts, Stephan C, PhD, Kearney, Shauna, MSc, Leuzzi, Vincenzo, Prof, Maillot, Francois, MD, Muntau, Ania C, Prof, Trefz, Fritz K, Prof, van Rijn, Margreet, PhD, Walter, John H, Prof, MacDonald, Anita, Prof

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The expanding spectrum of movement disorders in genetic epilepsies von Papandreou, Apostolos, Danti, Federica Rachele, Spaull, Robert, Leuzzi, Vincenzo, Mctague, Amy, Kurian, Manju A

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Genes of Early-Onset Epileptic Encephalopathies: From Genotype to Phenotype von Mastrangelo, Mario, MD, Leuzzi, Vincenzo, MD

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KCND3 -Related Neurological Disorders: From Old to Emerging Clinical Phenotypes von Pollini, Luca, Galosi, Serena, Tolve, Manuela, Caputi, Caterina, Carducci, Carla, Angeloni, Antonio, Leuzzi, Vincenzo

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Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome von Kortüm, Fanny, Caputo, Viviana, Bauer, Christiane K, Stella, Lorenzo, Ciolfi, Andrea, Alawi, Malik, Bocchinfuso, Gianfranco, Flex, Elisabetta, Paolacci, Stefano, Dentici, Maria Lisa, Grammatico, Paola, Korenke, Georg Christoph, Leuzzi, Vincenzo, Mowat, David, Nair, Lal D V, Nguyen, Thi Tuyet Mai, Thierry, Patrick, White, Susan M, Dallapiccola, Bruno, Pizzuti, Antonio, Campeau, Philippe M, Tartaglia, Marco, Kutsche, Kerstin

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Inborn errors of creatine metabolism and epilepsy von Leuzzi, Vincenzo, Mastrangelo, Mario, Battini, Roberta, Cioni, Giovanni

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Neurocognitive and neuroimaging outcome of early treated young adult PKU patients: A longitudinal study von Nardecchia, Francesca, Manti, Filippo, Chiarotti, Flavia, Carducci, Claudia, Carducci, Carla, Leuzzi, Vincenzo

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New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQ10 deficiency in muscle or skin fibroblasts von Mero, Serena, Salviati, Leonardo, Leuzzi, Vincenzo, Rubegni, Anna, Calderan, Cristina, Nardecchia, Francesca, Galatolo, Daniele, Desbats, Maria Andrea, Naef, Valentina, Gemignani, Federica, Novelli, Maria, Tessa, Alessandra, Battini, Roberta, Santorelli, Filippo M., Marchese, Maria

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Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single‐center cohort study von Carecchio, Miryam, Invernizzi, Federica, Gonzàlez‐Latapi, Paulina, Panteghini, Celeste, Zorzi, Giovanna, Romito, Luigi, Leuzzi, Vincenzo, Galosi, Serena, Reale, Chiara, Zibordi, Federica, Joseph, Agnel P., Topf, Maya, Piano, Carla, Bentivoglio, Anna Rita, Girotti, Floriano, Morana, Paolo, Morana, Benedetto, Kurian, Manju A., Garavaglia, Barbara, Mencacci, Niccolò E., Lubbe, Steven J., Nardocci, Nardo

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Myelin basic protein recovery during PKU mice lifespan and the potential role of microRNAs on its regulation von Bregalda, Alessandro, Carducci, Claudia, Viscomi, Maria Teresa, Pierigè, Francesca, Biagiotti, Sara, Menotta, Michele, Biancucci, Federica, Pascucci, Tiziana, Leuzzi, Vincenzo, Magnani, Mauro, Rossi, Luigia

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Phenomenology and clinical course of movement disorder in GNAO1 variants: Results from an analytical review von Schirinzi, Tommaso, Garone, Giacomo, Travaglini, Lorena, Vasco, Gessica, Galosi, Serena, Rios, Loreto, Castiglioni, Claudia, Barassi, Claudia, Battaglia, Domenica, Gambardella, Maria Luigia, Cantonetti, Laura, Graziola, Federica, Marras, Carlo Efisio, Castelli, Enrico, Bertini, Enrico, Capuano, Alessandro, Leuzzi, Vincenzo

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Adult cognitive outcomes in phenylketonuria: explaining causes of variability beyond average Phe levels von Romani, Cristina, Manti, Filippo, Nardecchia, Francesca, Valentini, Federica, Fallarino, Nicoletta, Carducci, Claudia, De Leo, Sabrina, MacDonald, Anita, Palermo, Liana, Leuzzi, Vincenzo

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Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines von Kuseyri Hübschmann, Oya, Horvath, Gabriella, Cortès-Saladelafont, Elisenda, Yıldız, Yılmaz, Mastrangelo, Mario, Pons, Roser, Friedman, Jennifer, Mercimek-Andrews, Saadet, Wong, Suet-Na, Pearson, Toni S., Zafeiriou, Dimitrios I., Kulhánek, Jan, Kurian, Manju A., López-Laso, Eduardo, Oppebøen, Mari, Kılavuz, Sebile, Wassenberg, Tessa, Goez, Helly, Scholl-Bürgi, Sabine, Porta, Francesco, Honzík, Tomáš, Santer, René, Burlina, Alberto, Sivri, H. Serap, Leuzzi, Vincenzo, Hoffmann, Georg F., Jeltsch, Kathrin, Hübschmann, Daniel, Garbade, Sven F., García-Cazorla, Angeles, Opladen, Thomas

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Italian national consensus statement on management and pharmacological treatment of phenylketonuria von Burlina, Alberto, Biasucci, Giacomo, Carbone, Maria Teresa, Cazzorla, Chiara, Paci, Sabrina, Pochiero, Francesca, Spada, Marco, Tummolo, Albina, Zuvadelli, Juri, Leuzzi, Vincenzo

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A Nervous System-Specific Model of Creatine Transporter Deficiency Recapitulates the Cognitive Endophenotype of the Disease: a Longitudinal Study von Molinaro, Angelo, Alessandrì, Maria Grazia, Putignano, Elena, Leuzzi, Vincenzo, Cioni, Giovanni, Baroncelli, Laura, Pizzorusso, Tommaso

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