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Mostrati risultati da 1 a 20 di 282
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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
Gene therapies for mucopolysaccharidoses 1.1 Articolo in rivista 2024 Rossi, Alessandro; Brunetti-Pierri, Nicola
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome 1.1 Articolo in rivista 2024 Rots, Dmitrijs; Bouman, Arianne; Yamada, Ayumi; Levy, Michael; Dingemans, Alexander J M; de Vries, Bert B A; Ruiterkamp-Versteeg, Martina; de Leeuw, Nicole; Ockeloen, Charlotte W; Pfundt, Rolph; de Boer, Elke; Kummeling, Joost; van Bon, Bregje; van Bokhoven, Hans; Kasri, Nael Nadif; Venselaar, Hanka; Alders, Marielle; Kerkhof, Jennifer; Mcconkey, Haley; Kuechler, Alma; Elffers, Bart; van Beeck Calkoen, Rixje; Hofman, Susanna; Smith, Audrey; Valenzuela, Maria Irene; Srivastava, Siddharth; Frazier, Zoe; Maystadt, Isabelle; Piscopo, Carmelo; Merla, Giuseppe; Balasubramanian, Meena; Santen, Gijs W E; Metcalfe, Kay; Park, Soo-Mi; Pasquier, Laurent; Banka, Siddharth; Donnai, Dian; Weisberg, Daniel; Strobl-Wildemann, Gertrud; Wagemans, Annemieke; Vreeburg, Maaike; Baralle, Diana; Foulds, Nicola; Scurr, Ingrid; Brunetti-Pierri, Nicola; van Hagen, Johanna M; Bijlsma, Emilia K; Hakonen, Anna H; Courage, Carolina; Genevieve, David; Pinson, Lucile; Forzano, Francesca; Deshpande, Charu; Kluskens, Maria L; Welling, Lindsey; Plomp, Astrid S; Vanhoutte, Els K; Kalsner, Louisa; Hol, Janna A; Putoux, Audrey; Lazier, Johanna; Vasudevan, Pradeep; Ames, Elizabeth; O'Shea, Jessica; Lederer, Damien; Fleischer, Julie; O'Connor, Mary; Pauly, Melissa; Vasileiou, Georgia; Reis, André; Kiraly-Borri, Catherine; Bouman, Arjan; Barnett, Chris; Nezarati, Marjan; Borch, Lauren; Beunders, Gea; Özcan, Kübra; Miot, Stéphanie; Volker-Touw, Catharina M L; van Gassen, Koen L I; Cappuccio, Gerarda; Janssens, Katrien; Mor, Nofar; Shomer, Inna; Dominissini, Dan; Tedder, Matthew L; Muir, Alison M; Sadikovic, Bekim; Brunner, Han G; Vissers, Lisenka E L M; Shinkai, Yoichi; Kleefstra, Tjitske
Liver gene transfer for metabolite detoxification in inherited metabolic diseases 1.8 Articolo in rassegna (review) 2024 D'Alessio, Alfonso M; Boffa, Iolanda; De Stefano, Lucia; Soria, Leandro R; Brunetti-Pierri, Nicola
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
Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype 1.1 Articolo in rivista 2024 Sarli, Camilla; van der Laan, Liselot; Reilly, Jack; Trajkova, Slavica; Carli, Diana; Brusco, Alfredo; Levy, Michael A; Relator, Raissa; Kerkhof, Jennifer; Mcconkey, Haley; Tedder, Matthew L; Skinner, Cindy; Alders, Mariëlle; Henneman, Peter; Hennekam, Raoul C M; Ciaccio, Claudia; D'Arrigo, Stefano; Vitobello, Antonio; Faivre, Laurence; Weber, Sacha; Vincent-Devulder, Aline; Perrin, Laurence; Bourgois, Alexia; Yamamoto, Toshiyuki; Metcalfe, Kay; Zollino, Marcella; Kini, Usha; Oliveira, Daniela; Sousa, Sergio B; Williams, Denise; Cappuccio, Gerarda; Sadikovic, Bekim; Brunetti-Pierri, Nicola
Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders 1.1 Articolo in rivista 2024 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
Precision medicine in action for Pompe disease 1.1 Articolo in rivista 2024 Tarallo, Antonietta; Parenti, Giancarlo; 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
SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline 1.1 Articolo in rivista 2024 Wood, Katherine A; Tong, R Spencer; Motta, Marialetizia; Cordeddu, Viviana; Scimone, Eleanor R; Bush, Stephen J; Maxwell, Dale W; Giannoulatou, Eleni; Caputo, Viviana; Traversa, Alice; Mancini, Cecilia; Ferrero, Giovanni B; Benedicenti, Francesco; Grammatico, Paola; Melis, Daniela; Steindl, Katharina; Brunetti-Pierri, Nicola; Trevisson, Eva; Wilkie, Andrew Om; Lin, Angela E; Cormier-Daire, Valerie; Twigg, Stephen Rf; Tartaglia, Marco; Goriely, Anne
Joint contractures is a recurrent clinical feature of individuals with neurodevelopmental disorder due to FOXP1 likely gene disruptive variants 1.1 Articolo in rivista 2024 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
A gene silencing-based approach to tackle fatty liver disease 1.1 Articolo in rivista 2024 Strnad, Pavel; Schrader, Christina; Brunetti-Pierri, Nicola
Vision on gyrate atrophy: why treat the liver? 1.1 Articolo in rivista 2024 Boffa, Iolanda; Brunetti-Pierri, Nicola
ASS1 metabolically contributes to the nuclear and cytosolic p53-mediated DNA damage response 1.1 Articolo in rivista 2024 Lim, Lisha Qiu Jin; Adler, Lital; Hajaj, Emma; Soria, Leandro R; Perry, Rotem Ben-Tov; Darzi, Naama; Brody, Ruchama; Furth, Noa; Lichtenstein, Michal; Bab-Dinitz, Elizabeta; Porat, Ziv; Melman, Tevie; Brandis, Alexander; Aylon, Yael; Ben-Dor, Shifra; Orr, Irit; Pri-Or, Amir; Seger, Rony; Shaul, Yoav; Ruppin, Eytan; Oren, Moshe; Perez, Minervo; Meier, Jordan; Brunetti-Pierri, Nicola; Shema, Efrat; Ulitsky, Igor; Erez, Ayelet; Malitsky, Sergey; Itkin, Maxim
Biomarkers for gene therapy clinical trials of lysosomal storage disorders 1.8 Articolo in rassegna (review) 2024 Rossi, Alessandro; Malvagia, Sabrina; la Marca, Giancarlo; Parenti, Giancarlo; Brunetti-Pierri, Nicola
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
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
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
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
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
Mostrati risultati da 1 a 20 di 282
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