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DNAJC12 Disease DNAJC12疾病 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 分享 收藏
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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 分享 收藏
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 分享 收藏
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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 分享 收藏
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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 分享 收藏
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 分享 收藏
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The recurrent pathogenic Pro890Leu substitution in CLTC causes a generalized defect in synaptic transmission in Caenorhabditis elegans CLTC中反复出现的致病性Pro890Leu取代导致秀丽隐杆线虫突触传递的普遍缺陷 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 分享 收藏
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. 分享 收藏
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. 分享 收藏
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. 分享 收藏
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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 分享 收藏
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