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Mostrati risultati da 1 a 20 di 307
Titolo Tipologia Data di pubblicazione Autore(i) File
Neurological and psychiatric phenotype of a multicenter cohort of patients with SETD5-related neurodevelopmental disorder 1.1 Articolo in rivista 2025 De Falco, Alessandro; De Dominicis, Angela; Trivisano, Marina; Specchio, Nicola; Cristina Digilio, Maria; Piscopo, Carmelo; Capra, Valeria; Scala, Marcello; Iacomino, Michele; Accogli, Andrea; Romano, Ferruccio; Salpietro, Vincenzo; Mancardi, Margherita; Striano, Pasquale; Felicia Operto, Francesca; Gburek-Augustat, Janina; Perrin, Laurence; Capri, Yline; Lupo, Viviana; Elia, Maurizio; Manti, Filippo; Pisani, Francesco; Brunetti-Pierri, Nicola; Terrone, Gaetano
Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center 1.1 Articolo in rivista 2025 Fecarotta, Simona; Vaccaro, Lorenzo; Verde, Alessandra; Alagia, Marianna; Rossi, Alessandro; Colantuono, Chiara; Cacciapuoti, Maria Teresa; Annunziata, Patrizia; Riccardo, Sara; Grimaldi, Antonio; Fusco, Tonya; De Santis, Rosa; Barretta, Fernando; Albano, Lucia; Crisci, Daniela; Vallone, Fabiana; Tarallo, Antonietta; Cesana, Marcella; Brunetti-Pierri, Nicola; Frisso, Giulia; Ruoppolo, Margherita; Cacchiarelli, Davide; Parenti, Giancarlo
AUTS2-related Syndrome: Insights from a large European cohort 1.1 Articolo in rivista 2025 Loberti, Lorenzo; Adamo, Loredaria; Antolini, Enrica; Casamassima, Giulia; Destrèe, Anne; Brunetti-Pierri, Nicola; Genevieve, David; Christophe, Philippe; Coubes, Christine; Van Esch, Hilde; Herget, Theresia; Kortüm, Fanny; Lisfeld, Jasmin; Möllring, Anna Charlotte; Zenker, Martin; Levy, Jonathan; Perrin, Laurence; Tabet, Anne-Claude; Maruani, Anna; Sorlin, Arthur; Stieber, Daniel; Herissant, Lucas; Dahan, Karin; Sinibaldi, Lorenzo; Capolino, Rossella; Dentici, Maria Lisa; Dallapiccola, Bruno; Novelli, Antonio; Garavelli, Livia; Caraffi, Stefano Giuseppe; Piatelli, Gianluca; Valenzuela, Irene; Digilio, Maria Cristina; Caumes, Roseline; Knopp, Cordula; Chwiałkowska, Karolina; Jezela-Stanek, Aleksandra; Kwasniewski, Miroslaw; Korotko, Urszula; Gorzałczyńska, Ewelina; Canitano, Roberto; Grosso, Salvatore; Rahikkala, Elisa; Mattern, Larissa; Elbracht, Miriam; Zuffardi, Orsetta; Caputo, Valentina; Toschi, Benedetta; Beunders, Gea; Leeuwen, Lisette; Elting, Mariet W; van der Laan, Liselot; Broekema, Marjoleine F; Groffen, Alexander J; van de Kamp, Jiddeke M; van Haelst, Mieke M; Alders, Marielle; Mauro, Salvatore Pietro; De Razza, Francesca; Varvara, Dora; Kick, Johanna; Gaspar, Harald; Braun, Dominique; Lausberg, Eva; Maier, Andrea; Ruault, Valentin; Genesio, Rita; Tartaglia, Marco; Tita, Rossella; Bruttini, Mirella; Longo, Ilaria; Baldassarri, Margherita; Mencarelli, Maria Antonietta; Renieri, Alessandra; Pinto, Anna Maria
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes 1.1 Articolo in rivista 2025 Di Letto, Pasquale; De Leonibus, Chiara; Palmieri, Francesca Pia; Zanobio, Mariateresa; Scarpato, Margherita; Cetrangolo, Viviana; Rahman, Sarah Iffat; Selicorni, Angelo; Mariani, Milena; D'Arrigo, Stefano; Ciaccio, Claudia; Milani, Donatella; Ajmone, Paola Francesca; Morleo, Manuela; Spampanato, Carmine; Piluso, Giulio; Zollino, Marcella; L'Erario, Federica Francesca; Greco, Donatella; Capra, Valeria; Scala, Marcello; Romano, Ferruccio; Terrone, Gaetano; De Falco, Alessandro; Paolella, Chiara; Mastrangelo, Mario; Ricciardi, Giacomina; Brunetti-Pierri, Nicola; Nigro, Vincenzo; Torella, Annalaura
A clinical and genotype-phenotype analysis of MACF1 variants 1.1 Articolo in rivista 2025 Dekker, Jordy; Schot, Rachel; Aldinger, Kimberly A; Everman, David B; Washington, Camerun; Jones, Julie R; Sullivan, Jennifer A; Spillmann, Rebecca C; Shashi, Vandana; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Mosca-Boidron, Anne-Laure; Perrin, Laurence; Auvin, Stéphane; Zaki, Maha S; Gleeson, Joseph G; Meave, Naomi; Wallace, Cassidy; Nambot, Sophie; Delanne, Julian; Ruggiero, Sarah M; Helbig, Ingo; Fitzgerald, Mark P; Leventer, Richard J; Grange, Dorothy K; Argilli, Emanuela; Sherr, Elliott H; Prakash, Supraja; Neilson, Derek E; Nicita, Francesco; Sferra, Antonella; Bertini, Enrico S; Aiello, Chiara; Brockmann, Knut; Kuranov, Alexander B; Kaulfuss, Silke; Basit, Sulman; Alluqmani, Majed; Almatrafi, Ahmad; Friedman, Jan M; Guimond, Colleen; Mohammed, Faruq; Sharma, Pooja; Goel, Divya; Wirth, Thomas; Anheim, Mathieu; Bahena, Paulina; Koparir, Asuman; Kolokotronis, Konstantinos; Vona, Barbara; Haaf, Thomas; Kunstmann, Erdmute; Maroofian, Reza; Sczakiel, Henrike L; Boschann, Felix; Misra-Isrie, Mala; Louie, Raymond J; Stolerman, Elliot S; Sanchez-Lara, Pedro A; Mergler, Sandra; Oegema, Renske; Zarate, Yuri A; Kariminejad, Ariana; Tajsharghi, Homa; Zeidler, Shimriet; Kievit, Anneke J A; Bouman, Arjan; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Stuurman, Kyra E; Swols, Dayna Morel; Tekin, Mustafa; Upadia, Jariya; Martin, Donna M; Craven, Daniel; Hiatt, Susan M; Van De Pol, Laura A; D'Arco, Felice; Margot, Henri; Wilke, Martina; Yousefi, Soheil; Barakat, Tahsin Stefan; van Veghel-Plandsoen, Monique M; Aronica, Eleonora; Anink, Jasper; Rogers, Stephen L; Slep, Kevin C; Doherty, Dan; Dobyns, William B; Mancini, Grazia M S
HPDL Variant Type Correlates With Clinical Disease Onset and Severity 1.1 Articolo in rivista 2025 Lee, Eun Hye; Kim-Mcmanus, Olivia; Yang, Jennifer H; Haas, Richard; Zaki, Maha S; Abdel-Salam, Ghada M H; Nakamura, Yuji; Abdel-Hamind, Mohamed S; Ebrahimi-Fakhari, Darius; Alecu, Julian E; Brunetti-Pierri, Nicola; Srinivasan, Varunvenkat M; Gowda, Vykuntaraju K; Gross, Stephanie; Alanay, Yasemin; Najarzadeh Totbati, Paria; Yadavilli, Manya; Friedman, Liana; Ojeda, Naomi Meave; Gleeson, Joseph G
Computational identification of small molecules for increased gene expression by synthetic circuits in mammalian cells 1.1 Articolo in rivista 2025 Pisani, M; Calandra, F; Rinaldi, A; Cella, F; Tedeschi, F; Boffa, I; Vozzi, D; Brunetti-Pierri, Nicola; Carissimo, A; Napolitano, F; Siciliano, V
Impact of liver fibrosis on AAV-mediated gene transfer to mouse hepatocytes 1.1 Articolo in rivista 2025 Ferriero, Rosa; Bruno, Gemma; Padula, Agnese; Pisano, Simone; Boffa, Iolanda; Gargaro, Marco; Imperatore, Teresa; Battipaglia, Maria; Vivenzio, Silvia; Perna, Claudia; Nusco, Edoardo; Ferrante, Luigi; Westhaus, Adrian; Knight, Maddison; Manni, Giorgia; Campione, Severo; Di Napoli, Evaristo; Polishchuk, Elena; Polishchuk, Roman; Paciello, Orlando; Brunetti-Pierri, Nicola; Lisowski, Leszek; Fallarino, Francesca; Piccolo, Pasquale
SNRK tames mTOR against metabolic dysfunction-associated steatotic liver disease 1.1 Articolo in rivista 2025 Brunetti-Pierri, Nicola; Bewersdorf, Lisa; Strnad, Pavel
Gene Therapy for Infantile-Onset Pompe's Disease 1.1 Articolo in rivista 2025 Parenti, Giancarlo; Brunetti-Pierri, Nicola
An OGT Missense Variant With Impaired Enzyme Activity in a Child With Severe Developmental Delay and Hepatoblastoma 1.1 Articolo in rivista 2025 D'Alessio, Alfonso Manuel; Yuan, Huijie; Soria, Leandro Raul; Hansen, Sara Basse; Boffa, Iolanda; Arena, Paola; Attianese, Benedetta; O'Sullivan, Maureen; Cullinan, Noelle; Pang, Lewis; Van Aalten, Daan Marinus Ferdinand; Brunetti-Pierri, Nicola; Lynch, Sally Ann
Navigating Drug Discovery for Myhre Syndrome: The Complexity of a Multisystemic Rare Disease 1.8 Articolo in rassegna (review) 2025 Pindon, Armelle; Brunetti-Pierri, Nicola; Young, Kathy H; Young, Mary K; Macias, Maria J; Xiulei, Mo
DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective 1.1 Articolo in rivista 2025 Van Der Laan, Liselot; Karimi, Karim; Rooney, Kathleen; Alders, Mariëlle; Brusco, Alfredo; Lasa-Aranzasti, Amaia; Brunetti-Pierri, Nicola; Cueto-Gonzalez, Anna M; Dupont, Barbara R; Cappuccio, Gerarda; Dubourg, Christele; Everman, David; Gatinois, Vincent; Ganne, Benjamin; Genevieve, David; Ferrero, Giovanni Battista; Kempers, Marlies; Levy, Michael A; Niceta, Marcello; Novelli, Antonio; Orlando, Valeria; Odent, Sylvie; Patterson, Wesley G; Polstra, Abeltje M; Roscioli, Tony; Ruiz-Pallares, Nathalie; Sabbagh, Quentin; Trajkova, Slavica; Tartaglia, Marco; Tedder, Matthew A; Toutain, Annick; Koehler, Udo; Valenzuela, Irena; Van Hagen, Johanna M; van der Kevie-Kersemaekers, Anne-Marie; Henneman, Peter; Mannens, Marcel M A M; Sadikovic, Bekim; Van Haelst, Mieke M
A Further Case Supporting PDCD6IP as the Gene Responsible for a Neurodevelopmental Disorder With Microcephaly 1.1 Articolo in rivista 2025 D'Alessio, Alfonso Manuel; Torella, Annalaura; Morleo, Manuela; Nigro, Vincenzo; Brunetti-Pierri, Nicola
Normal urinary oxalate excretion in 4-hydroxy-2-oxo-glutarate aldolase 1 (HOGA1) deficient mice with AGT expression in peroxisomes and not in mitochondria 1.1 Articolo in rivista 2025 Boffa, Iolanda; Ferriero, Rosa; Cancelliere, Mariarosaria; Nusco, Edoardo; Gatticchi, Leonardo; Palmer, Donna; Ng, Philip; Piccolo, Pasquale; Cellini, Barbara; Wood, Kyle; Knight, John; Brunetti-Pierri, Nicola
Deletion Testing of the DEGS1 Gene Should Be Part of the Diagnostic Pipeline for Hypomyelinating Leukodystrophy (HLD18) 1.1 Articolo in rivista 2025 Zanobio, Mariateresa; Nardecchia, Francesca; Cappuccio, Gerarda; Onore, Maria Elena; Di Letto, Pasquale; Rahman, Sarah Iffat; Terrone, Gaetano; Ugga, Lorenzo; De Giorgi, Agnese; Cas, Michele Dei; Trinchera, Marco; Leuzzi, Vincenzo; Piluso, Giulio; Nigro, Vincenzo; Brunetti-Pierri, Nicola; Torella, Annalaura
Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration 1.1 Articolo in rivista 2025 Groeneweg, Stefan; van Geest, Ferdy S; Martín, Mariano; Dias, Mafalda; Frazer, Jonathan; Medina-Gomez, Carolina; Sterenborg, Rosalie B T M; Wang, Hao; Dolcetta-Capuzzo, Anna; de Rooij, Linda J; Teumer, Alexander; Abaci, Ayhan; van den Akker, Erica L T; Ambegaonkar, Gautam P; Armour, Christine M; Bacos, Iiuliu; Bakhtiani, Priyanka; Barca, Diana; Bauer, Andrew J; van den Berg, Sjoerd A A; van den Berge, Amanda; Bertini, Enrico; van Beynum, Ingrid M; Brunetti-Pierri, Nicola; Brunner, Doris; Cappa, Marco; Cappuccio, Gerarda; Castellotti, Barbara; Castiglioni, Claudia; Chatterjee, Krishna; Chesover, Alexander; Christian, Peter; Coenen-van der Spek, Jet; de Coo, Irenaeus F M; Coutant, Regis; Craiu, Dana; Crock, Patricia; Degoede, Christian; Demir, Korcan; Dewey, Cheyenne; Dica, Alice; Dimitri, Paul; Dremmen, Marjolein H G; Dubey, Rachana; Enderli, Anina; Fairchild, Jan; Gallichan, Jonathan; Garibaldi, Luigi; George, Belinda; Gevers, Evelien F; Greenup, Erin; Hackenberg, Annette; Halász, Zita; Heinrich, Bianka; Hurst, Anna C; Huynh, Tony; Isaza, Amber R; Klosowska, Anna; van der Knoop, Marieke M; Konrad, Daniel; Koolen, David A; Krude, Heiko; Kulkarni, Abhishek; Laemmle, Alexander; Lafranchi, Stephen H; Lawson-Yuen, Amy; Lebl, Jan; Leeuwenburgh, Selmar; Linder-Lucht, Michaela; López Martí, Anna; Lorea, Cláudia F; Lourenço, Charles M; Lunsing, Roelineke J; Lyons, Greta; Malikova, Jana Krenek; Mancilla, Edna E; Mccormick, Kenneth L; Mcgowan, Anne; Mericq, Veronica; Lora, Felipe Monti; Moran, Carla; Muller, Katalin E; Nicol, Lindsey E; Oliver-Petit, Isabelle; Paone, Laura; Paul, Praveen G; Polak, Michel; Porta, Francesco; Poswar, Fabiano O; Reinauer, Christina; Rozenkova, Klara; Seckold, Rowen; Seven Menevse, Tuba; Simm, Peter; Simon, Anna; Singh, Yogen; Spada, Marco; Stals, Milou A M; Stegenga, Merel T; Stoupa, Athanasia; Subramanian, Gopinath M; Szeifert, Lilla; Tonduti, Davide; Turan, Serap; Vanderniet, Joel; van der Walt, Adri; Wémeau, Jean-Louis; van Wermeskerken, Anne-Marie; Wierzba, Jolanta; de Wit, Marie-Claire Y; Wolf, Nicole I; Wurm, Michael; Zibordi, Federica; Zung, Amnon; Zwaveling-Soonawala, Nitash; Rivadeneira, Fernando; Meima, Marcel E; Marks, Debora S; Nicola, Juan P; Chen, Chi-Hua; Medici, Marco; Visser, W Edward
Hepatocyte delivery of miR-34b/c reduces hepatic stellate cell activation and improves liver fibrosis 1.1 Articolo in rivista 2025 Piccolo, Pasquale; Ferriero, Rosa; Perna, Claudia; Nusco, Edoardo; Monti, Marcello; De Cegli, Rossella; Barbato, Anna; Sorrentino, Nicolina Cristina; Viscomi, Maria Teresa; Cariello, Marica; Moschetta, Antonio; Campione, Severo; Brunetti-Pierri, Nicola
Commentary on ‘Lentivirus-mediated gene therapy for Fabry disease: 5-year end-of-study results from the Canadian FACTS trial’ 1.1 Articolo in rivista 2025 Rossi, A.; Brunetti-Pierri, N.
Expansion of the Phenotype of You-Hoover-Fong Syndrome and Possible Increased Risk of Cancer 1.1 Articolo in rivista 2024 De Falco, Alessandro; De Gregorio, Fabiola; Abate, Massimo Eraldo; Paolella, Chiara; Nigro, Vincenzo; Scala, Iris; Brunetti-Pierri, Nicola
Mostrati risultati da 1 a 20 di 307
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