Dystonia as Presenting Feature of Compound Heterozygous PMPCA Gene Variants by De Santis, Tiziana, Serpieri, Valentina, Biagini, Tommaso, Lanotte, Michele, Criffò, Carlotta, Mazza, Tommaso, Valente, Enza Maria, Albanese, Alberto

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Prenatal findings in oral‐facial‐digital syndrome type VI: Report of three cases and literature review by Dordoni, Chiara, Prefumo, Federico, Iascone, Maria, Pinelli, Lorenzo, Palumbo, Giovanni, Bondioni, Maria Pia, Savoldi, Gianfranco, Donzelli, Carla, Sartori, Enrico, Valente, Enza Maria, Izzi, Claudia

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Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome) by Micalizzi, Alessia, Poretti, Andrea, Romani, Marta, Ginevrino, Monia, Mazza, Tommaso, Aiello, Chiara, Zanni, Ginevra, Baumgartner, Bastian, Borgatti, Renato, Brockmann, Knut, Camacho, Ana, Cantalupo, Gaetano, Haeusler, Martin, Hikel, Christiane, Klein, Andrea, Mandrile, Giorgia, Mercuri, Eugenio, Rating, Dietz, Romaniello, Romina, Santorelli, Filippo Maria, Schimmel, Mareike, Spaccini, Luigina, Teber, Serap, von Moers, Arpad, Wente, Sarah, Ziegler, Andreas, Zonta, Andrea, Bertini, Enrico, Boltshauser, Eugen, Valente, Enza Maria

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The Contursi Family 20 Years Later: Intrafamilial Phenotypic Variability of the SNCA p.A53T Mutation by Ricciardi, Lucia, Petrucci, Simona, Di Giuda, Daniela, Serra, Laura, Spanò, Barbara, Sensi, Mariachiara, Ginevrino, Monia, Cocciolillo, Fabrizio, Bozzali, Marco, Valente, Enza Maria, Fasano, Alfonso

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Genetic characterization of a cohort with familial parkinsonism and cognitive-behavioral syndrome: A Next Generation Sequencing study by Picillo, Marina, Ginevrino, Monia, Dati, Giovanna, Scannapieco, Sara, Vallelunga, Annamaria, Siano, Pietro, Volpe, Giampiero, Ceravolo, Roberto, Nicoletti, Valentina, Cicero, Edoardo, Nicoletti, Alessandra, Zappia, Mario, Peverelli, Silvia, Silani, Vincenzo, Pellecchia, Maria Teresa, Valente, Enza Maria, Barone, Paolo

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Establishment of stable iPS-derived human neural stem cell lines suitable for cell therapies by Rosati, Jessica, Ferrari, Daniela, Altieri, Filomena, Tardivo, Silvia, Ricciolini, Claudia, Fusilli, Caterina, Zalfa, Cristina, Profico, Daniela C., Pinos, Francesca, Bernardini, Laura, Torres, Barbara, Manni, Isabella, Piaggio, Giulia, Binda, Elena, Copetti, Massimiliano, Lamorte, Giuseppe, Mazza, Tommaso, Carella, Massimo, Gelati, Maurizio, Valente, Enza Maria, Simeone, Antonio, Vescovi, Angelo L.

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Motor and non-motor features in Parkinson’s Disease patients carrying GBA gene mutations by De Michele, Giovanna, Palmieri, Gianluigi Rosario, Pane, Chiara, Valente, Enza Maria, Palmieri, Ilaria, Dello Iacovo, Carmen Diletta Paola, Cuomo, Nunzia, Giglio, Augusta, De Lucia, Natascia, Fico, Tommasina, Perillo, Sandra, De Michele, Giuseppe, De Rosa, Anna

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Electroretinographic Assessment in Joubert Syndrome: A Suggested Objective Method to Evaluate the Effectiveness of Future Targeted Treatment by Ruberto, Giulio, Parisi, Vincenzo, Bertone, Chiara, Signorini, Sabrina, Antonini, Mauro, Valente, Enza Maria, Manzoni, Federica, Serpieri, Valentina, Fausto, Riccardo, Quaranta, Luciano

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A novel PMCA3 mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2) heterozygote mutations: Biochemical characterization of the pump defect by Vicario, Mattia, Calì, Tito, Cieri, Domenico, Vallese, Francesca, Bortolotto, Raissa, Lopreiato, Raffaele, Zonta, Francesco, Nardella, Marta, Micalizzi, Alessia, Lefeber, Dirk J., Valente, Enza Maria, Bertini, Enrico, Zanotti, Giuseppe, Zanni, Ginevra, Brini, Marisa, Carafoli, Ernesto

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The commercial genetic testing landscape for Parkinson's disease by Cook, Lola, Schulze, Jeanine, Verbrugge, Jennifer, Beck, James C., Marder, Karen S., Saunders-Pullman, Rachel, Klein, Christine, Naito, Anna, Alcalay, Roy N., Brice, Alexis, Kumeh, Amasi, West, Andrew B., Singleton, Andrew, Naito, Anna, Schüle, Birgitt, Fiske, Brian, Gabbert, Carolin, Marras, Connie, Blauwendraat, Cornelis, Thaxton, Courtney, Alessi, Dario, Craig, David, Fon, Edward A., Forbes, Emily, Valente, Enza Maria, Sammler, Esther, Chao, Gill, Riboldi, Giulietta, Elloumi, Houda Zghal, Mata, Ignacio, Beck, James C., Fong, Jamie C., Corvol, Jean-Christophe, Schulze, Jeanine, Verbrugge, Jennifer, Shulman, Joshua, Peterschmitt, Judith, Marder, Karen, Lohmann, Katja, Nudelman, Kelly, Lange, Lara, Cook, Lola, Cookson, Mark R., Nance, Martha, Farrer, Matthew, Grigorian, Melina, Schwarzschild, Michael A., Mencacci, Niccolo, Ross, Owen, Mistry, Pramod, Hodges, Priscila, Blake, Rachel, Saunders-Pullman, Rachel, Alcalay, Roy N., Sardi, S. Pablo, Farhan, Sali, Strom, Samuel, Padmanabhan, Shalini, Mohan, Shruthi, Longerich, Simonne, Schneider, Susanne, Lesage, Suzanne, Bardakjian, Tanya, Foroud, Tatiana, Courtin, Thomas, Tropea, Thomas, Liu, Yunlong, Gan-Or, Ziv, Shalash, Ali S., Hall, Anne, Thaler, Avner, Sue, Carolyn M., Mascalzoni, Deborah, Raymond, Deborah, Gatto, Emilia Mabel, Pal, Gian D., König, Inke, Novakovic, Ivana, Merello, Marcelo, Salari, Mehri, Mencacci, Niccolo Emanuele, Hattori, Nobutaka, Suchowersky, Oksana, Bardien, Soraya, Chung, Sun Ju, Simuni, Tatyana, Lynch, Timothy, Bonifati, Vincenzo

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GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome by Danti, Federica Rachele, Galosi, Serena, Romani, Marta, Montomoli, Martino, Carss, Keren J, Raymond, F Lucy, Parrini, Elena, Bianchini, Claudia, McShane, Tony, Dale, Russell C, Mohammad, Shekeeb S, Shah, Ubaid, Mahant, Neil, Ng, Joanne, McTague, Amy, Samanta, Rajib, Vadlamani, Gayatri, Valente, Enza Maria, Leuzzi, Vincenzo, Kurian, Manju A, Guerrini, Renzo

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Genetic issues in the diagnosis of dystonias by Petrucci, Simona, Valente, Enza Maria

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PINK1 heterozygous mutations induce subtle alterations in dopamine-dependent synaptic plasticity by Madeo, Graziella, Schirinzi, Tommaso, Martella, Giuseppina, Latagliata, E. Claudio, Puglisi, Francesca, Shen, Jie, Valente, Enza Maria, Federici, Mauro, Mercuri, Nicola B., Puglisi-Allegra, Stefano, Bonsi, Paola, Pisani, Antonio

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Macular staphyloma in patients affected by Joubert syndrome with retinal dystrophy: a new finding detected by SD-OCT by Toma, Caterina, Ruberto, Giulio, Marzi, Federico, Vandelli, Giulio, Signorini, Sabrina, Valente, Enza Maria, Antonini, Mauro, Bertone, Chiara, Bianchi, Paolo Emilio

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Visual Evoked Potentials in Joubert Syndrome: A Suggested Useful Method for Evaluating Future Approaches Targeted to Improve Visual Pathways’ Function by Ruberto, Giulio, Parisi, Vincenzo, Bertone, Chiara, Signorini, Sabrina, Antonini, Mauro, Valente, Enza Maria, Manzoni, Federica, Serpieri, Valentina, Fausto, Riccardo, Quaranta, Luciano

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Alpha-synuclein gene duplication: Marked intrafamilial variability in two novel pedigrees by Elia, Antonio E., Petrucci, Simona, Fasano, Alfonso, Guidi, Marco, Valbonesi, Stefano, Bernardini, Laura, Consoli, Federica, Ferraris, Alessandro, Albanese, Alberto, Valente, Enza Maria

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Bilateral Dentate Nuclei Hyperintensities and Response to 4-Aminopyridine in a Patient With Childhood-Onset GAA- FGF14 -Related Ataxia by Mitrotti, Pierfrancesco, Vegezzi, Elisa, Zangaglia, Roberta, Palmieri, Ilaria, Dicaire, Marie-Josée, Gana, Simone, Aghdas, Sayna Rahimi, Nicolosi, Silvia, Pichiecchio, Anna, Tassorelli, Cristina, Valente, Enza Maria, Avenali, Micol

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Protracted late infantile ceroid lipofuscinosis due to TPP1 mutations: Clinical, molecular and biochemical characterization in three sibs by Di Giacopo, Raffaella, Cianetti, Luciano, Caputo, Viviana, La Torraca, Ilaria, Piemonte, Fiorella, Ciolfi, Andrea, Petrucci, Simona, Carta, Claudio, Mariotti, Paolo, Leuzzi, Vincenzo, Valente, Enza Maria, D'Amico, Adele, Bentivoglio, Annarita, Bertini, Enrico, Tartaglia, Marco, Zampino, Giuseppe

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Cognitive, adaptive, and behavioral features in Joubert syndrome by Bulgheroni, Sara, D'Arrigo, Stefano, Signorini, Sabrina, Briguglio, Marilena, Di Sabato, Maria Lucia, Casarano, Manuela, Mancini, Francesca, Romani, Marta, Alfieri, Paolo, Battini, Roberta, Zoppello, Marina, Tortorella, Gaetano, Bertini, Enrico, Leuzzi, Vincenzo, Valente, Enza Maria, Riva, Daria

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CASK related disorder: Epilepsy and developmental outcome by Giacomini, Thea, Nuovo, Sara, Zanni, Ginevra, Mancardi, Maria Margherita, Cusmai, Raffaella, Pepi, Chiara, Bertini, Enrico, Valente, Enza Maria, Battini, Roberta, Ferrari, Annarita, Romaniello, Romina, Zucca, Claudio, Borgatti, Renato, Uccella, Sara, Severino, Mariasavina, Striano, Pasquale, Pistorio, Angela, Prato, Giulia, De Grandis, Elisa, Nobili, Lino, Pisciotta, Livia

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