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Loss of function and reduced levels of sphingolipid desaturase DEGS1 variants are both relevant in disease mechanism 1.1 Articolo in rivista 2024 Dei Cas, Michele; Montavoci, Linda; Pasini, Claudia; Caretti, Anna; Penati, Sara; Martinelli, Carla; Gianelli, Umberto; Casati, Sara; Nardecchia, Francesca; Torella, Annalaura; Brunetti-Pierri, Nicola; Trinchera, Marco
A gene silencing-based approach to tackle fatty liver disease 1.1 Articolo in rivista 2024 Strnad, Pavel; Schrader, Christina; Brunetti-Pierri, Nicola
Liver-directed gene therapy for inherited metabolic diseases 1.8 Articolo in rassegna (review) 2024 Baruteau, Julien; Brunetti-Pierri, Nicola; Gissen, Paul
Late-onset mucopolysaccharidosis type IIIA mimicking Usher syndrome 1.1 Articolo in rivista 2024 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
Vision on gyrate atrophy: why treat the liver? 1.1 Articolo in rivista 2024 Boffa, Iolanda; Brunetti-Pierri, Nicola
THE EVOLVING ROLE OF MEDICAL GENETICISTS IN THE ERA OF GENE THERAPY: AN URGENCY TO PREPARE 1.1 Articolo in rivista 2023 Vockley, Jerry; Brunetti-Pierri, Nicola; Chung, Wendy K; Clarke, Angus J; Gold, Nina; Green, Robert C; Kagan, Stephen; Moroz, Tara; Schaaf, Christian P; Schulz, Martin; De Baere, Elfride
Gene therapies for mucopolysaccharidoses 1.1 Articolo in rivista 2023 Rossi, Alessandro; Brunetti-Pierri, Nicola
Gene Therapy in Patients with the Crigler-Najjar Syndrome 1.1 Articolo in rivista 2023 D'Antiga, Lorenzo; Beuers, Ulrich; Ronzitti, Giuseppe; Brunetti-Pierri, Nicola; Baumann, Ulrich; Di Giorgio, Angelo; Aronson, Sem; Hubert, Aurelie; Romano, Roberta; Junge, Norman; Bosma, Piter; Bortolussi, Giulia; Muro, Andrés F; Soumoudronga, Ravaka F; Veron, Philippe; Collaud, Fanny; Knuchel-Legendre, Nathalie; Labrune, Philippe; Mingozzi, Federico
Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency 1.1 Articolo in rivista 2023 Schlotawa, Lars; Tyka, Karolina; Kettwig, Matthias; Ahrens-Nicklas, Rebecca C; Baud, Matthias; Berulava, Tea; Brunetti-Pierri, Nicola; Gagne, Alyssa; Herbst, Zackary M; Maguire, Jean A; Monfregula, Jlenia; Pena, Tonatiuh; Radhakrishnan, Karthikeyan; Schröder, Sophie; Waxman, Elisa A; Ballabio, Andrea; Dierks, Thomas; Fischer, André; French, Deborah L; Gelb, Michael H; Gärtner, Jutta
DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder 1.1 Articolo in rivista 2023 Rooney, Kathleen; van der Laan, Liselot; Trajkova, Slavica; Haghshenas, Sadegheh; Relator, Raissa; Lauffer, Peter; Vos, Niels; Levy, Michael A; Brunetti-Pierri, Nicola; Terrone, Gaetano; Mignot, Cyril; Keren, Boris; Billette de Villemeur, Thierry; Volker-Touw, Catharina M L; Verbeek, Nienke; van der Smagt, Jasper J; Oegema, Renske; Brusco, Alfredo; Ferrero, Giovanni Battista; Misra-Isrie, Mala; Hochstenbach, Ron; Alders, Mariëlle; Mannens, Marcel M A M; Sadikovic, Bekim; van Haelst, Mieke M; Henneman, Peter
Progress, and prospects in the therapeutic armamentarium of persons with congenital hemophilia. Defining the place for liver-directed gene therapy 1.2 Recensione in rivista 2023 Di Minno, Giovanni; Castaman, Giancarlo; De Cristofaro, Raimondo; Brunetti-Pierri, Nicola; Pastore, Lucio; Castaldo, Giuseppe; Trama, Ugo; Di Minno, Matteo
Liver-directed gene therapy for ornithine aminotransferase deficiency 1.1 Articolo in rivista 2023 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
Increased expression or activation of TRPML1 reduces hepatic storage of toxic Z alpha-1 antitrypsin 1.1 Articolo in rivista 2023 Pastore, Nunzia; Annunziata, Francesco; Colonna, Rita; Maffia, Veronica; Giuliano, Teresa; Custode, Bruno Maria; Lombardi, Bernadette; Polishchuk, Elena; Cacace, Vincenzo; De Stefano, Lucia; Nusco, Edoardo; Sorrentino, Nicolina Cristina; Piccolo, Pasquale; Brunetti-Pierri, Nicola
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome 1.1 Articolo in rivista 2023 Piceci-Sparascio, Francesca; Micale, Lucia; Torres, Barbara; Guida, Valentina; Consoli, Federica; Torrente, Isabella; Onori, Annamaria; Frustaci, Emanuela; D'Asdia, Maria Cecilia; Petrizzelli, Francesco; Bernardini, Laura; Mancini, Cecilia; Soli, Fiorenza; Cocciadiferro, Dario; Guadagnolo, Daniele; Mastromoro, Gioia; Putotto, Carolina; Fontana, Franco; Brunetti-Pierri, Nicola; Novelli, Antonio; Pizzuti, Antonio; Marino, Bruno; Digilio, Maria Cristina; Mazza, Tommaso; Dallapiccola, Bruno; Ruiz-Perez, Victor Luis; Tartaglia, Marco; Castori, Marco; De Luca, Alessandro
Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders 1.1 Articolo in rivista 2023 Wang, Huilun Helen; Lin, Liangguang Leo; Li, Zexin Jason; Wei, Xiaoqiong; Askander, Omar; Cappuccio, Gerarda; Hashem, Mais O; Hubert, Laurence; Munnich, Arnold; Alqahtani, Mashael; Pang, Qi; Burmeister, Margit; Lu, You; Poirier, Karine; Besmond, Claude; Sun, Shengyi; Brunetti-Pierri, Nicola; Alkuraya, Fowzan S; Qi, Ling
POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum 1.1 Articolo in rivista 2023 Rossi, Alessandra; Blok, Lot Snijders; Neuser, Sonja; Klöckner, Chiara; Platzer, Konrad; Faivre, Laurence Olivier; Weigand, Heike; Dentici, Maria L; Tartaglia, Marco; Niceta, Marcello; Alfieri, Paolo; Srivastava, Siddharth; Coulter, David; Smith, Lacey; Vinorum, Kristin; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Torun, Deniz; Arslan, Mutluay; Lauridsen, Mathilde F; Murch, Oliver; Irving, Rachel; Lynch, Sally A; Mehta, Sarju G; Carmichael, Jenny; Zonneveld-Huijssoon, Evelien; de Vries, Bert; Kleefstra, Tjitske; Johannesen, Katrine M; Westphall, Ian T; Hughes, Susan S; Smithson, Sarah; Evans, Julie; Dudding-Byth, Tracy; Simon, Marleen; van Binsbergen, Ellen; Herkert, Johanna C; Beunders, Gea; Oppermann, Henry; Bakal, Mert; Møller, Rikke S; Rubboli, Guido; Bayat, Allan
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease 1.1 Articolo in rivista 2023 Van Haute, Lindsey; O'Connor, Emily; Díaz-Maldonado, Héctor; Munro, Benjamin; Polavarapu, Kiran; Hock, Daniella H; Arunachal, Gautham; Athanasiou-Fragkouli, Alkyoni; Bardhan, Mainak; Barth, Magalie; Bonneau, Dominique; Brunetti-Pierri, Nicola; Cappuccio, Gerarda; Caruana, Nikeisha J; Dominik, Natalia; Goel, Himanshu; Helman, Guy; Houlden, Henry; Lenaers, Guy; Mention, Karine; Murphy, David; Nandeesh, Bevinahalli; Olimpio, Catarina; Powell, Christopher A; Preethish-Kumar, Veeramani; Procaccio, Vincent; Rius, Rocio; Rebelo-Guiomar, Pedro; Simons, Cas; Vengalil, Seena; Zaki, Maha S; Ziegler, Alban; Thorburn, David R; Stroud, David A; Maroofian, Reza; Christodoulou, John; Gustafsson, Claes; Nalini, Atchayaram; Lochmüller, Hanns; Minczuk, Michal; Horvath, Rita
Response to L.A. Beretich and K.N. Beretich 1.1 Articolo in rivista 2023 Vockley, Jerry; Brunetti-Pierri, Nicola; Chung, Wendy K; Clarke, Angus J; Gold, Nina; Green, Robert C; Kagan, Stephen; Moroz, Tara; Schaaf, Christian P; Schulz, Martin; De Baere, Elfride
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability 1.1 Articolo in rivista 2023 Bogaert, Elke; Garde, Aurore; Gautier, Thierry; Rooney, Kathleen; Duffourd, Yannis; Leblanc, Pontus; van Reempts, Emma; Tran Mau-Them, Frederic; Wentzensen, Ingrid M; Au, Kit Sing; Richardson, Kate; Northrup, Hope; Gatinois, Vincent; Geneviève, David; Louie, Raymond J; Lyons, Michael J; Laulund, Lone Walentin; Brasch-Andersen, Charlotte; Maxel Juul, Trine; El It, Fatima; Marle, Nathalie; Callier, Patrick; Relator, Raissa; Haghshenas, Sadegheh; Mcconkey, Haley; Kerkhof, Jennifer; Cesario, Claudia; Novelli, Antonio; Brunetti-Pierri, Nicola; Pinelli, Michele; Pennamen, Perrine; Naudion, Sophie; Legendre, Marine; Courdier, Cécile; Trimouille, Aurelien; Fenzy, Martine Doco; Pais, Lynn; Yeung, Alison; Nugent, Kimberly; Roeder, Elizabeth R; Mitani, Tadahiro; Posey, Jennifer E; Calame, Daniel; Yonath, Hagith; Rosenfeld, Jill A; Musante, Luciana; Faletra, Flavio; Montanari, Francesca; Sartor, Giovanna; Vancini, Alessandra; Seri, Marco; Besmond, Claude; Poirier, Karine; Hubert, Laurence; Hemelsoet, Dimitri; Munnich, Arnold; Lupski, James R; Philippe, Christophe; Thauvin-Robinet, Christel; Faivre, Laurence; Sadikovic, Bekim; Govin, Jérôme; Dermaut, Bart; Vitobello, Antonio
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy 1.1 Articolo in rivista 2023 Paul, Maimuna S; Duncan, Anna R; Genetti, Casie A; Pan, Hongling; Jackson, Adam; Grant, Patricia E; Shi, Jiahai; Pinelli, Michele; Brunetti-Pierri, Nicola; Garza-Flores, Alexandra; Shahani, Dave; Saneto, Russell P; Zampino, Giuseppe; Leoni, Chiara; Agolini, Emanuele; Novelli, Antonio; Blümlein, Ulrike; Haack, Tobias B; Heinritz, Wolfram; Matzker, Eva; Alhaddad, Bader; Abou Jamra, Rami; Bartolomaeus, Tobias; Alhamdan, Saber; Carapito, Raphael; Isidor, Bertrand; Bahram, Seiamak; Ritter, Alyssa; Izumi, Kosuke; Shakked, Ben Pode; Barel, Ortal; Ben Zeev, Bruria; Begtrup, Amber; Carere, Deanna Alexis; Mullegama, Sureni V; Palculict, Timothy Blake; Calame, Daniel G; Schwan, Katharina; Aycinena, Alicia R P; Traberg, Rasa; Douzgou, Sofia; Pirt, Harrison; Ismayilova, Naila; Banka, Siddharth; Chao, Hsiao-Tuan; Agrawal, Pankaj B
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