Neuronal Ceroid Lipofuscinosis: The Multifaceted Approach to the Clinical Issues, an Overview von Simonati, Alessandro, Williams, Ruth E

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Editorial: Neuronal ceroid lipofuscinosis: A multidisciplinary update von Simonati, Alessandro, Williams, Ruth Elizabeth, Schulz, Angela

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ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria von Vetro, Annalisa, Nielsen, Hang N., Holm, Rikke, Hevner, Robert F., Parrini, Elena, Powis, Zoe, Moller, Rikke S., Bellan, Cristina, Simonati, Alessandro, Lesca, Gaetan, Helbig, Katherine L., Palmer, Elizabeth E., Mei, Davide, Ballardini, Elisa, Van Haeringen, Arie, Syrbe, Steffen, Leuzzi, Vincenzo, Cioni, Giovanni, Curry, Cynthia J., Costain, Gregory, Santucci, Margherita, Chong, Karen, Mancini, Grazia M. S., Clayton-Smith, Jill, Bigoni, Stefania, Scheffer, Ingrid E., Dobyns, William B., Vilsen, Bente, Guerrini, Renzo

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Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients von Mole, Sara E., Schulz, Angela, Badoe, Eben, Berkovic, Samuel F., de Los Reyes, Emily C., Dulz, Simon, Gissen, Paul, Guelbert, Norberto, Lourenco, Charles M., Mason, Heather L., Mink, Jonathan W., Murphy, Noreen, Nickel, Miriam, Olaya, Joffre E., Scarpa, Maurizio, Scheffer, Ingrid E., Simonati, Alessandro, Specchio, Nicola, Von Loebbecke, Ina, Wang, Raymond Y., Williams, Ruth E.

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Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy von Santorelli, Filippo Maria, Garavaglia, Barbara, Cardona, Francesco, Nardocci, Nardo, Bernardina, Bernardo Dalla, Sartori, Stefano, Suppiej, Agnese, Bertini, Enrico, Claps, Dianela, Battini, Roberta, Biancheri, Roberta, Filocamo, Mirella, Pezzini, Francesco, Simonati, Alessandro

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Proteomic analysis of the palmitoyl protein thioesterase 1 interactome in SH-SY5Y human neuroblastoma cells von Scifo, Enzo, Szwajda, Agnieszka, Soliymani, Rabah, Pezzini, Francesco, Bianchi, Marzia, Dapkunas, Arvydas, Dębski, Janusz, Uusi-Rauva, Kristiina, Dadlez, Michał, Gingras, Anne-Claude, Tyynelä, Jaana, Simonati, Alessandro, Jalanko, Anu, Baumann, Marc H., Lalowski, Maciej

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Survey on Treatments for Primary Headaches in 13 Specialized Juvenile Headache Centers: The First Multicenter Italian Study von Toldo, Irene, MD PhD, Rattin, Martina, MD, Perissinotto, Egle, MD, De Carlo, Debora, MD, Bolzonella, Barbara, MD, Nosadini, Margherita, Rossi, Livia Nicoletta, MD, Vecchio, Angelo, MD, Simonati, Alessandro, MD, Carotenuto, Marco, MD, Scalas, Cinzia, Sciruicchio, Vittorio, Raieli, Vincenzo, Mazzotta, Giovanni, Tozzi, Elisabetta, Valeriani, Massimiliano, Cianchetti, Carlo, Balottin, Umberto, Guidetti, Vincenzo, MD, Sartori, Stefano, MD PhD, Battistella, Pier Antonio, MD

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Clinical and neuroimaging features of autosomal recessive spastic paraplegia 35 (SPG35): case reports, new mutations, and brief literature review von Mari, Francesco, Berti, Beatrice, Romano, Alessandro, Baldacci, Jacopo, Rizzi, Riccardo, Grazia Alessandrì, M., Tessa, Alessandra, Procopio, Elena, Rubegni, Anna, Lourenḉo, Charles Marques, Simonati, Alessandro, Guerrini, Renzo, Santorelli, Filippo Maria

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

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Proteomic and functional analyses in disease models reveal CLN5 protein involvement in mitochondrial dysfunction von Doccini, Stefano, Morani, Federica, Nesti, Claudia, Pezzini, Francesco, Calza, Giulio, Soliymani, Rabah, Signore, Giovanni, Rocchiccioli, Silvia, Kanninen, Katja M., Huuskonen, Mikko T., Baumann, Marc H., Simonati, Alessandro, Lalowski, Maciej M., Santorelli, Filippo M.

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

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

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The Networks of Genes Encoding Palmitoylated Proteins in Axonal and Synaptic Compartments Are Affected in PPT1 Overexpressing Neuronal-Like Cells von Pezzini, Francesco, Bianchi, Marzia, Benfatto, Salvatore, Griggio, Francesca, Doccini, Stefano, Carrozzo, Rosalba, Dapkunas, Arvydas, Delledonne, Massimo, Santorelli, Filippo M, Lalowski, Maciej M, Simonati, Alessandro

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NCL diseases — clinical perspectives von Schulz, Angela, Kohlschütter, Alfried, Mink, Jonathan, Simonati, Alessandro, Williams, Ruth

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Human pathology in NCL von Anderson, Glenn W., Goebel, Hans H., Simonati, Alessandro

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Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations von Grossi, Serena, Regis, Stefano, Biancheri, Roberta, Mort, Matthew, Lualdi, Susanna, Bertini, Enrico, Uziel, Graziella, Boespflug-Tanguy, Odile, Simonati, Alessandro, Corsolini, Fabio, Demir, Ercan, Marchiani, Valentina, Percesepe, Antonio, Stanzial, Franco, Rossi, Andrea, Vaurs-Barrière, Catherine, Cooper, David N, Filocamo, Mirella

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MECP2 duplication phenotype in symptomatic females: report of three further cases von Novara, Francesca, Simonati, Alessandro, Sicca, Federico, Battini, Roberta, Fiori, Simona, Contaldo, Annarita, Criscuolo, Lucia, Zuffardi, Orsetta, Ciccone, Roberto

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C19orf12 and FA2H Mutations Are Rare in Italian Patients With Neurodegeneration With Brain Iron Accumulation von Panteghini, Celeste, MSc, Zorzi, Giovanna, MD, Venco, Paola, MSc, Dusi, Sabrina, MSc, Reale, Chiara, MSc, Brunetti, Dario, PhD, Chiapparini, Luisa, MD, Zibordi, Federica, MD, Siegel, Brigitte, PhD, Garavaglia, Barbara, PhD, Simonati, Alessandro, MD, Bertini, Enrico, MD, Nardocci, Nardo, MD, Tiranti, Valeria, PhD

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Enhanced expression of the autophagosomal marker LC3-II in detergent-resistant protein lysates from a CLN3 patient's post-mortem brain von Pezzini, Francesco, Fiorini, Michele, Doccini, Stefano, Santorelli, Filippo Maria, Zanusso, Gianluigi, Simonati, Alessandro

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Quantitative analysis of PPT1 interactome in human neuroblastoma cells von Scifo, Enzo, Szwajda, Agnieszka, Soliymani, Rabah, Pezzini, Francesco, Bianchi, Marzia, Dapkunas, Arvydas, Dębski, Janusz, Uusi-Rauva, Kristiina, Dadlez, Michał, Gingras, Anne-Claude, Tyynelä, Jaana, Simonati, Alessandro, Jalanko, Anu, Baumann, Marc H., Lalowski, Maciej

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