Liver‐directed gene therapy for inherited metabolic diseases von Baruteau, Julien, Brunetti‐Pierri, Nicola, Gissen, Paul

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Gene therapies for mucopolysaccharidoses von Rossi, Alessandro, Brunetti‐Pierri, Nicola

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Ammonia and autophagy: An emerging relationship with implications for disorders with hyperammonemia von Soria, Leandro R., Brunetti‐Pierri, Nicola

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Nutrient‐sensitive transcription factors TFEB and TFE3 couple autophagy and metabolism to the peripheral clock von Pastore, Nunzia, Vainshtein, Anna, Herz, Niculin J, Huynh, Tuong, Brunetti, Lorenzo, Klisch, Tiemo J, Mutarelli, Margherita, Annunziata, Patrizia, Kinouchi, Kenichiro, Brunetti‐Pierri, Nicola, Sassone‐Corsi, Paolo, Ballabio, Andrea

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Are SHROOM4 loss‐of‐function variants pathogenic? von Peduto, Cristina, Piluso, Giulio, Nigro, Vincenzo, Brunetti‐Pierri, Nicola

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Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders von Levy, Michael A., Relator, Raissa, McConkey, Haley, Pranckeviciene, Erinija, Kerkhof, Jennifer, Barat‐Houari, Mouna, Bargiacchi, Sara, Biamino, Elisa, Palomares Bralo, María, Cappuccio, Gerarda, Ciolfi, Andrea, Clarke, Angus, DuPont, Barbara R., Elting, Mariet W., Faivre, Laurence, Fee, Timothy, Ferilli, Marco, Fletcher, Robin S., Cherick, Florian, Foroutan, Aidin, Friez, Michael J., Gervasini, Cristina, Haghshenas, Sadegheh, Hilton, Benjamin A., Jenkins, Zandra, Kaur, Simranpreet, Lewis, Suzanne, Louie, Raymond J., Maitz, Silvia, Milani, Donatella, Morgan, Angela T., Oegema, Renske, Østergaard, Elsebet, Pallares, Nathalie R., Piccione, Maria, Plomp, Astrid S., Poulton, Cathryn, Reilly, Jack, Rius, Rocio, Robertson, Stephen, Rooney, Kathleen, Rousseau, Justine, Santen, Gijs W. E., Santos‐Simarro, Fernando, Schijns, Josephine, Squeo, Gabriella M., John, Miya St, Thauvin‐Robinet, Christel, Traficante, Giovanna, Sluijs, Pleuntje J., Vergano, Samantha A., Vos, Niels, Walden, Kellie K., Azmanov, Dimitar, Balci, Tugce B., Banka, Siddharth, Gecz, Jozef, Henneman, Peter, Lee, Jennifer A., Mannens, Marcel M. A. M., Roscioli, Tony, Siu, Victoria, Amor, David J., Baynam, Gareth, Bend, Eric G., Boycott, Kym, Brunetti‐Pierri, Nicola, Campeau, Philippe M., Campion, Dominique, Christodoulou, John, Dyment, David, Esber, Natacha, Fahrner, Jill A., Fleming, Mark D., Genevieve, David, Heron, Delphine, Husson, Thomas, Kernohan, Kristin D., McNeill, Alisdair, Menke, Leonie A., Merla, Giuseppe, Prontera, Paolo, Rockman‐Greenberg, Cheryl, Schwartz, Charles, Skinner, Steven A., Stevenson, Roger E., Vincent, Marie, Vitobello, Antonio, Tartaglia, Marco, Alders, Marielle, Tedder, Matthew L., Sadikovic, Bekim

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Peculiar footprints in a child with agenesis of corpus callosum von Cappuccio, Gerarda, Genesio, Rita, Pignataro, Piero, Brunetti‐Pierri, Nicola

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Late‐onset mucopolysaccharidosis type IIIA mimicking Usher syndrome von De Falco, Alessandro, Karali, Marianthi, Criscuolo, Chiara, Testa, Francesco, Barillari, Maria Rosaria, Scarpato, Margherita, Gaudieri, Valeria, Cuocolo, Alberto, Russo, Anna, Nigro, Vincenzo, Simonelli, Francesca, Banfi, Sandro, Brunetti‐Pierri, Nicola

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Joint contractures is a recurrent clinical feature of individuals with neurodevelopmental disorder due to FOXP1 likely gene disruptive variants von Peduto, Cristina, Cappuccio, Gerarda, Zeuli, Roberta, Zanobio, Mariateresa, Torella, Annalaura, Alkuraya, Fowzan S., Joss, Shelagh, Daolio, Cecilia, Spinelli, Alessandro Mauro, Zampieri, Stefania, Nigro, Vincenzo, Brunetti‐Pierri, Nicola

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New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency von Sorrentino, Nicolina Cristina, Presa, Maximiliano, Attanasio, Sergio, Cacace, Vincenzo, Sofia, Martina, Zuberi, Aamir, Ryan, Jennifer, Ray, Somdatta, Petkovic, Igor, Radhakrishnan, Karthikeyan, Schlotawa, Lars, Ballabio, Andrea, Lutz, Cathleen, Brunetti‐Pierri, Nicola

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A pilot clinical trial with losartan in Myhre syndrome von Cappuccio, Gerarda, Caiazza, Martina, Roca, Alessandro, Melis, Daniela, Iuliano, Antonella, Matyas, Gabor, Rubino, Marta, Limongelli, Giuseppe, Brunetti‐Pierri, Nicola

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Liver‐directed gene therapy for ornithine aminotransferase deficiency von Boffa, Iolanda, Polishchuk, Elena, De Stefano, Lucia, Dell'Aquila, Fabio, Nusco, Edoardo, Marrocco, Elena, Audano, Matteo, Pedretti, Silvia, Caterino, Marianna, Bellezza, Ilaria, Ruoppolo, Margherita, Mitro, Nico, Cellini, Barbara, Auricchio, Alberto, Brunetti‐Pierri, Nicola

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Liver CHOP‐and‐change stress response von Piccolo, Pasquale, Brunetti‐Pierri, Nicola

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Expanding the phenotype of HNRNPU‐related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature von Taylor, James, Spiller, Michael, Ranguin, Kara, Vitobello, Antonio, Philippe, Christophe, Bruel, Ange‐Line, Cappuccio, Gerarda, Brunetti‐Pierri, Nicola, Willems, Marjolaine, Isidor, Bertrand, Park, Kristen, Balasubramanian, Meena

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A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot von Alagia, Marianna, Cappuccio, Gerarda, Pinelli, Michele, Torella, Annalaura, Brunetti‐Pierri, Raffaella, Simonelli, Francesca, Limongelli, Giuseppe, Oppido, Guido, Nigro, Vincenzo, Brunetti‐Pierri, Nicola

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A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability von Pinelli, Michele, Terrone, Gaetano, Troglio, Flavia, Squeo, Gabriella Maria, Cappuccio, Gerarda, Imperati, Floriana, Pignataro, Piero, Genesio, Rita, Nitch, Lucio, Del Giudice, Ennio, Merla, Giuseppe, Testa, Giuseppe, Brunetti‐Pierri, Nicola

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Gene transfer of master autophagy regulator TFEB results in clearance of toxic protein and correction of hepatic disease in alpha‐1‐anti‐trypsin deficiency von Pastore, Nunzia, Blomenkamp, Keith, Annunziata, Fabio, Piccolo, Pasquale, Mithbaokar, Pratibha, Maria Sepe, Rosa, Vetrini, Francesco, Palmer, Donna, Ng, Philip, Polishchuk, Elena, Iacobacci, Simona, Polishchuk, Roman, Teckman, Jeffrey, Ballabio, Andrea, Brunetti‐Pierri, Nicola

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Disease burden and management of Crigler‐Najjar syndrome: Report of a world registry von Aronson, Sem J., Junge, Norman, Trabelsi, Mediha, Kelmemi, Wided, Hubert, Aurelie, Brigatti, Karlla W., Fox, Michael D., Knegt, Robert J., Escher, Johanna C., Ginocchio, Virginia M., Iorio, Raffaele, Zhu, Yan, Özçay, Figen, Rahim, Fakher, El‐Shabrawi, Mortada H.F., Shteyer, Eyal, Di Giorgio, Angelo, D'Antiga, Lorenzo, Mingozzi, Federico, Brunetti‐Pierri, Nicola, Strauss, Kevin A., Labrune, Philippe, Mrad, Ridha, Baumann, Ulrich, Beuers, Ulrich, Bosma, Piter J.

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Postnatal microcephaly and retinal involvement expand the phenotype of RPL10‐related disorder von Cappuccio, Gerarda, De Bernardi, Margherita Lucia, Morlando, Alessia, Peduto, Cristina, Scala, Iris, Pinelli, Michele, Bellacchio, Emanuele, Gallo, Flavio Gioele, Magli, Adriano, Plaitano, Carmen, Serrano, Mercedes, Pías, Leticia, Català, Jaume, Bolasell, Mercè, Torella, Annalaura, Nigro, Vincenzo, Zanni, Ginevra, Brunetti‐Pierri, Nicola

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AP1S2‐truncating variant in a patient with severe neurodevelopmental disorder and cerebral folate deficiency von Cappuccio, Gerarda, Torella, Annalaura, Mastrangelo, Mario, Carducci, Claudia, Nigro, Vincenzo, Brunetti‐Pierri, Nicola, Leuzzi, Vincenzo

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