Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing

por Merico, Daniele, Roifman, Maian, Braunschweig, Ulrich, Yuen, Ryan K. C., Alexandrova, Roumiana, Bates, Andrea, Reid, Brenda, Nalpathamkalam, Thomas, Wang, Zhuozhi, Thiruvahindrapuram, Bhooma, Gray, Paul, Kakakios, Alyson, Peake, Jane, Hogarth, Stephanie, Manson, David, Buncic, Raymond, Pereira, Sergio L., Herbrick, Jo-Anne, Blencowe, Benjamin J., Roifman, Chaim M., Scherer, Stephen W.
Publicado 2015

Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes

por Zanotti, Simona, Magri, Francesca, Salani, Sabrina, Napoli, Laura, Ripolone, Michela, Ronchi, Dario, Fortunato, Francesco, Ciscato, Patrizia, Velardo, Daniele, D’Angelo, Maria Grazia, Gualandi, Francesca, Nigro, Vincenzo, Sciacco, Monica, Corti, Stefania, Comi, Giacomo Pietro, Piga, Daniela
Publicado 2023

Natural Variation of Model Mutant Phenotypes in Ciona intestinalis

por Sordino, Paolo, Andreakis, Nikos, Brown, Euan R., Leccia, Nicola I., Squarzoni, Paola, Tarallo, Raffaella, Alfano, Christian, Caputi, Luigi, D'Ambrosio, Palmira, Daniele, Paola, D'Aniello, Enrico, D'Aniello, Salvatore, Maiella, Sylvie, Miraglia, Valentina, Russo, Monia Teresa, Sorrenti, Gerarda, Branno, Margherita, Cariello, Lucio, Cirino, Paola, Locascio, Annamaria, Spagnuolo, Antonietta, Zanetti, Laura, Ristoratore, Filomena
Publicado 2008

Worsening of Cardiomyopathy Using Deflazacort in an Animal Model Rescued by Gene Therapy

por Rotundo, Ida Luisa, Faraso, Stefania, De Leonibus, Elvira, Nigro, Gerardo, Vitiello, Carmen, Lancioni, Alessio, Di Napoli, Daniele, Castaldo, Sigismondo, Russo, Vincenzo, Russo, Fabio, Piluso, Giulio, Auricchio, Alberto, Nigro, Vincenzo
Publicado 2011

Immunogenicity of a new gorilla adenovirus vaccine candidate for COVID-19

por Capone, Stefania, Raggioli, Angelo, Gentile, Michela, Battella, Simone, Lahm, Armin, Sommella, Andrea, Contino, Alessandra Maria, Urbanowicz, Richard A., Scala, Romina, Barra, Federica, Leuzzi, Adriano, Lilli, Eleonora, Miselli, Giuseppina, Noto, Alessia, Ferraiuolo, Maria, Talotta, Francesco, Tsoleridis, Theocharis, Castilletti, Concetta, Matusali, Giulia, Colavita, Francesca, Lapa, Daniele, Meschi, Silvia, Capobianchi, Maria, Soriani, Marco, Folgori, Antonella, Ball, Jonathan K., Colloca, Stefano, Vitelli, Alessandra
Publicado 2021

Postdonation information during dengue outbreaks at a single blood center in Brazil: An ally against transfusion-transmitted infections

por Costa-Lima, Carolina, Benites, Bruno Deltreggia, Rocha, Daniele Ramos, Andrade, Elisabete, Alvarez, Patricia, Magnus, Mariana Munari, Addas-Carvalho, Marcelo
Publicado 2021

Apheresis Platelet Rich-Plasma for Regenerative Medicine: An In Vitro Study on Osteogenic Potential

por Pulcini, Stefano, Merolle, Lucia, Marraccini, Chiara, Quartieri, Eleonora, Mori, Daniele, Schiroli, Davide, Berni, Pamela, Iotti, Barbara, Di Bartolomeo, Erminia, Baricchi, Roberto, Sala, Roberto, Pertinhez, Thelma A.
Publicado 2021

Intense visible emission from ZnO/PAAX (X = H or Na) nanocomposite synthesized via a simple and scalable sol-gel method

por Zhu, Y., Apostoluk, A., Gautier, P., Valette, A., Omar, L., Cornier, T., Bluet, J. M., Masenelli-Varlot, K., Daniele, S., Masenelli, B.
Publicado 2016

A Novel Microglia-Specific Transcriptional Signature Correlates With Behavioral Deficits in Neuropsychiatric Lupus

por Makinde, Hadijat M., Winter, Deborah R., Procissi, Daniele, Mike, Elise V., Stock, Ariel D., Kando, Mary J., Gadhvi, Gaurav T., Droho, Steven, Bloomfield, Christina L., Dominguez, Salina T., Mayr, Maximilian G., Lavine, Jeremy A., Putterman, Chaim, Cuda, Carla M.
Publicado 2020

Whole‐genome analysis uncovers recurrent IKZF1 inactivation and aberrant cell adhesion in blastic plasmacytoid dendritic cell neoplasm

por Bastidas Torres, Armando N., Cats, Davy, Mei, Hailiang, Fanoni, Daniele, Gliozzo, Jessica, Corti, Laura, Paulli, Marco, Vermeer, Maarten H., Willemze, Rein, Berti, Emilio, Tensen, Cornelis P.
Publicado 2019

Rescue of Advanced Pompe Disease in Mice with Hepatic Expression of Secretable Acid α-Glucosidase

por Cagin, Umut, Puzzo, Francesco, Gomez, Manuel Jose, Moya-Nilges, Maryse, Sellier, Pauline, Abad, Catalina, Van Wittenberghe, Laetitia, Daniele, Nathalie, Guerchet, Nicolas, Gjata, Bernard, Collaud, Fanny, Charles, Severine, Sola, Marcelo Simon, Boyer, Olivier, Krijnse-Locker, Jacomina, Ronzitti, Giuseppe, Colella, Pasqualina, Mingozzi, Federico
Publicado 2020

VID22 counteracts G-quadruplex-induced genome instability

por Galati, Elena, Bosio, Maria C, Novarina, Daniele, Chiara, Matteo, Bernini, Giulia M, Mozzarelli, Alessandro M, García-Rubio, Maria L, Gómez-González, Belén, Aguilera, Andrés, Carzaniga, Thomas, Todisco, Marco, Bellini, Tommaso, Nava, Giulia M, Frigè, Gianmaria, Sertic, Sarah, Horner, David S, Baryshnikova, Anastasia, Manzari, Caterina, D’Erchia, Anna M, Pesole, Graziano, Brown, Grant W, Muzi-Falconi, Marco, Lazzaro, Federico
Publicado 2021

BCL7A‐containing SWI/SNF/BAF complexes modulate mitochondrial bioenergetics during neural progenitor differentiation

por Wischhof, Lena, Lee, Hang‐Mao, Tutas, Janine, Overkott, Clemens, Tedt, Eileen, Stork, Miriam, Peitz, Michael, Brüstle, Oliver, Ulas, Thomas, Händler, Kristian, Schultze, Joachim L, Ehninger, Dan, Nicotera, Pierluigi, Salomoni, Paolo, Bano, Daniele
Publicado 2022

Sterile Corneal Infiltrates following Cataract Surgery: Case Series

por Franch, Antonella, Bini, Silvia, Francescutti, Lorena, Birattari, Federica, Leon, Pia, Bonamartini, Daniele, Gambato, Tommaso, Altafini, Romeo
Publicado 2023

Fault Tolerance in Protein Interaction Networks: Stable Bipartite Subgraphs and Redundant Pathways

por Brady, Arthur, Maxwell, Kyle, Daniels, Noah, Cowen, Lenore J.
Publicado 2009

Role of Chaperone-Mediated Autophagy Dysfunctions in the Pathogenesis of Parkinson’s Disease

por Sala, Gessica, Marinig, Daniele, Arosio, Alessandro, Ferrarese, Carlo
Publicado 2016

A WISER way for simulating the performance of gratings

por Manfredda, Michele, Raimondi, Lorenzo, Cocco, Daniele
Publicado 2022

Transcriptome Analysis of iPSC-Derived Neurons from Rubinstein-Taybi Patients Reveals Deficits in Neuronal Differentiation

por Calzari, Luciano, Barcella, Matteo, Alari, Valentina, Braga, Daniele, Muñoz-Viana, Rafael, Barlassina, Cristina, Finelli, Palma, Gervasini, Cristina, Barco, Angel, Russo, Silvia, Larizza, Lidia
Publicado 2020

Functional CVIDs phenotype clusters identified by the integration of immune parameters after BNT162b2 boosters

por Piano Mortari, Eva, Pulvirenti, Federica, Marcellini, Valentina, Terreri, Sara, Salinas, Ane Fernandez, Ferrari, Simona, Di Napoli, Giulia, Guadagnolo, Daniele, Sculco, Eleonora, Albano, Christian, Guercio, Marika, Di Cecca, Stefano, Milito, Cinzia, Garzi, Giulia, Pesce, Anna Maria, Bonanni, Livia, Sinibaldi, Matilde, Bordoni, Veronica, Di Cecilia, Serena, Accordini, Silvia, Castilletti, Concetta, Agrati, Chiara, Quintarelli, Concetta, Zaffina, Salvatore, Locatelli, Franco, Carsetti, Rita, Quinti, Isabella
Publicado 2023

Generally Applicable Transformation Protocols for Fluorescent Nanodiamond Internalization into Cells

por Hemelaar, Simon R., van der Laan, Kiran J., Hinterding, Sophie R., Koot, Manon V., Ellermann, Else, Perona-Martinez, Felipe P., Roig, David, Hommelet, Severin, Novarina, Daniele, Takahashi, Hiroki, Chang, Michael, Schirhagl, Romana
Publicado 2017