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DNAJC12 Disease Manti, Filippo; Ricciardi, Giacomina; Nardecchia, Francesca; Tolve, Manuela; Artiola, Cristiana; Carbone, Maria Teresa; Carducci, Claudia; Mei, Davide; Porta, Francesco; Ortolano, Rita; Candela, Egidio; Burlina, Alberto; Guerrini, Renzo; Pisani, Francesco; Angeloni, Antonio; Leuzzi, Vincenzo Share Save
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The clinical value of peripheral biogenic amine metabolites in early-treated phenylketonuria Manti, Filippo; Di Carlo, Emanuele; Santagata, Silvia; Giovanniello, Teresa; Angeloni, Antonio; Pisani, Francesco; Pascucci, Tiziana; Nardecchia, Francesca; Carducci, Claudia; Leuzzi, Vincenzo Share Save
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome D'Abrusco, Fulvio; Serpieri, Valentina; Taccagni, Cecilia Maria; Garau, Jessica; Cattaneo, Luca; Boggioni, Monica; Gana, Simone; Battini, Roberta; Bertini, Enrico; Zanni, Ginevra; Boltshauser, Eugen; Borgatti, Renato; Romaniello, Romina; Signorini, Sabrina; Leuzzi, Vincenzo; Caputi, Caterina; Manti, Filippo; D'Arrigo, Stefano; De Laurentiis, Arianna; Graziano, Claudio; Lemke, Johannes R.; Morelli, Federica; Ramadza, Danijela Petkovic; Sirchia, Fabio; Giorgio, Elisa; Valente, Enza Maria Share Save
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Pegvaliase therapy for phenylketonuria: Real-world case series and clinical insights Scala, Iris; Brodosi, Lucia; Gueraldi, Daniela; Manti, Filippo; Rovelli, Valentina; Zuvadelli, Juri; Agnelli, Giulio; Cazzorla, Chiara; Nardecchia, Francesca; Giammanco, Antonina; Biasucci, Giacomo Share Save
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Efficacy and safety of oral sepiapterin in participants with phenylketonuria on sapropterin dihydrochloride at time of Phase 3 aphenity study entry Zori, Roberto; Lah, Melissa; Offord, Staphanie; Lund, Allan; Opladen, Thomas; Peters, Heidi; Guilder, Laura; Ezgu, Faith; Breilyn, Margo Sheck; Manti, Filippo; Guerra, Ixiu del Carmen Cabrales; Ingalls, Kimberly; Zhao, Zhenming; Larkin, Alexandra; Hughes, Catalina; Somera-Molina, Kathleen; Smith, Neil; Longo, Nicola Share Save
L-serine treatment in patients with GRIN-related encephalopathy: a phase 2A, non-randomized study Julia-Palacios, Natalia; Olivella, Mireia; Sigatullina Bondarenko, Mariya; Ibanez-Mico, Salvador; Munoz-Cabello, Beatriz; Alonso-Luengo, Olga; Soto-Insuga, Victor; Garcia-Navas, Deyanira; Cuesta-Herraiz, Laura; Andreo-Lillo, Patricia; Aguilera-Albesa, Sergio; Hedrera-Fernandez, Antonio; Alguacil, Elena Gonzalez; Sanchez-Carpintero, Rocio; Martin del Valle, Fernando; Gonzalez, Erika Jimenez; Cabrera, Lourdes Cean; Medina-Rivera, Ines; Perez-Ordonez, Marta; Colome, Roser; Lopez, Laura; Cazorla, Maria Engracia; Fornaguera, Montserrat; Ormazabal, Aida; Alonso-Colmenero, Itziar; Illescas, Katia Sofia; Balsells-Mejia, Sol; Mari-Vico, Rosanna; Vinas, Maria Duffo; Cappuccio, Gerarda; Terrone, Gaetano; Romano, Roberta; Manti, Filippo; Mastrangelo, Mario; Alfonsi, Chiara; de Siqueira Barros, Bruna; Nizon, Mathilde; Gjerulfsen, Cathrine Elisabeth; Muro, Valeria L.; Karall, Daniela; Zeiner, Fiona; Masnada, Silvia; Peterlongo, Irene; Oyarzabal, Alfonso; Santos-Gomez, Ana; Altafaj, Xavier; Garcia-Cazorla, Angeles Share Save
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The recurrent pathogenic Pro890Leu substitution in CLTC causes a generalized defect in synaptic transmission in Caenorhabditis elegans Pannone, Luca; Muto, Valentina; Nardecchia, Francesca; Di Rocco, Martina; Marchei, Emilia; Tosato, Federica; Petrini, Stefania; Onorato, Giada; Lanza, Enrico; Bertuccini, Lucia; Manti, Filippo; Folli, Viola; Galosi, Serena; Di Schiavi, Elia; Leuzzi, Vincenzo; Tartaglia, Marco; Martinelli, Simone Share Save
Expert opinion of an Italian working group on the assessment of cognitive, psychological, and neurological outcomes in pediatric, adolescent, and adult patients with phenylketonuria (vol 17, 443, 2022) Manti, Filippo; Caviglia, Stefania; Cazzorla, Chiara; Dicintio, Annamaria; Pilotto, Andrea; Burlina, Alessandro P. Share Save
Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome Faqeih, Eissa A.; Alghamdi, Malak Ali; Almahroos, Marwa A.; Alharby, Essa; Almuntashri, Makki; Alshangiti, Amnah M.; Clement, Prouteau; Calame, Daniel G.; Qebibo, Leila; Burglen, Lydie; Doco-Fenzy, Martine; Mastrangelo, Mario; Torella, Annalaura; Manti, Filippo; Nigro, Vincenzo; Alban, Ziegler; Alharbi, Ghadeer Saleh; Hashmi, Jamil Amjad; Alraddadi, Rawya; Alamri, Razan; Mitani, Tadahiro; Magalie, Barth; Coban-Akdemir, Zeynep; Geckinli, Bilgen Bilge; Pehlivan, Davut; Romito, Antonio; Karageorgou, Vasiliki; Martini, Javier; Colin, Estelle; Bonneau, Dominique; Bertoli-Avella, Aida; Lupski, James R.; Pastore, Annalisa; Peake, Roy W. A.; Dallol, Ashraf; Alfadhel, Majid; Almontashiri, Naif A. M. Share Save
Expert opinion of an Italian working group on the assessment of cognitive, psychological, and neurological outcomes in pediatric, adolescent, and adult patients with phenylketonuria Manti, Filippo; Caviglia, Stefania; Cazzorla, Chiara; Dicintio, Annamaria; Pilotto, Andrea; Burlina, Alessandro P. P. Share Save
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Neurophysiological assessment of juvenile parkinsonism due to primary monoamine neurotransmitter disorders Passaretti, Massimiliano; Pollini, Luca; Paparella, Giulia; De Biase, Alessandro; Colella, Donato; Angelini, Luca; Galosi, Serena; Manti, Filippo; Guerra, Andrea; Leuzzi, Vincenzo; Berardelli, Alfredo; Bologna, Matteo Share Save
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