Bi‐allelic pathogenic variants in NDUFC2 cause early‐onset Leigh syndrome and stalled biogenesis of complex I

por Alahmad, Ahmad, Nasca, Alessia, Heidler, Juliana, Thompson, Kyle, Oláhová, Monika, Legati, Andrea, Lamantea, Eleonora, Meisterknecht, Jana, Spagnolo, Manuela, He, Langping, Alameer, Seham, Hakami, Fahad, Almehdar, Abeer, Ardissone, Anna, Alston, Charlotte L, McFarland, Robert, Wittig, Ilka, Ghezzi, Daniele, Taylor, Robert W
Publicado 2020

Morpho-Functional Macular Assessment in a Case of Facioscapulohumeral Muscular Dystrophy: Photoreceptor Degeneration as Possible Cause for Reduced Visual Acuity over Three Years of...

por Parravano, Mariacristina, Costanzo, Eliana, Barbano, Lucilla, Viggiano, Pasquale, De Geronimo, Daniele, Antonelli, Giulio, Parisi, Vincenzo, Varano, Monica, Ziccardi, Lucia
Publicado 2022

Toward an Inclusive, Congruent, and Precise Definition of Autoinflammatory Diseases

por Wekell, Per, Berg, Stefan, Karlsson, Anna, Fasth, Anders
Publicado 2017

Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the DLX5/6 Genes

por Ambrosetti, Irene, Bernardini, Laura, Pollazzon, Marzia, Giuffrida, Maria Grazia, Guida, Valentina, Peluso, Francesca, Baroni, Maria Chiara, Polizzi, Valeria, Napoli, Manuela, Rosato, Simonetta, Trimarchi, Gabriele, Gelmini, Chiara, Caraffi, Stefano Giuseppe, Wischmeijer, Anita, Frattini, Daniele, Novelli, Antonio, Garavelli, Livia
Publicado 2023

Altered intercellular communication in lung fibroblast cultures from patients with idiopathic pulmonary fibrosis

por Trovato-Salinaro, Angela, Trovato-Salinaro, Elisa, Failla, Marco, Mastruzzo, Claudio, Tomaselli, Valerio, Gili, Elisa, Crimi, Nunzio, Condorelli, Daniele Filippo, Vancheri, Carlo
Publicado 2006

Targeted Deficiency of the Transcriptional Activator Hnf1α Alters Subnuclear Positioning of Its Genomic Targets

por Luco, Reini F., Maestro, Miguel A., Sadoni, Nicolas, Zink, Daniele, Ferrer, Jorge
Publicado 2008

MTO1 Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast

por Baruffini, Enrico, Dallabona, Cristina, Invernizzi, Federica, Yarham, John W, Melchionda, Laura, Blakely, Emma L, Lamantea, Eleonora, Donnini, Claudia, Santra, Saikat, Vijayaraghavan, Suresh, Roper, Helen P, Burlina, Alberto, Kopajtich, Robert, Walther, Anett, Strom, Tim M, Haack, Tobias B, Prokisch, Holger, Taylor, Robert W, Ferrero, Ileana, Zeviani, Massimo, Ghezzi, Daniele
Publicado 2013

Large polarons in lead halide perovskites

por Miyata, Kiyoshi, Meggiolaro, Daniele, Trinh, M. Tuan, Joshi, Prakriti P., Mosconi, Edoardo, Jones, Skyler C., De Angelis, Filippo, Zhu, X.-Y.
Publicado 2017

KLB, encoding β‐Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism

por Xu, Cheng, Messina, Andrea, Somm, Emmanuel, Miraoui, Hichem, Kinnunen, Tarja, Acierno, James, Niederländer, Nicolas J, Bouilly, Justine, Dwyer, Andrew A, Sidis, Yisrael, Cassatella, Daniele, Sykiotis, Gerasimos P, Quinton, Richard, De Geyter, Christian, Dirlewanger, Mirjam, Schwitzgebel, Valérie, Cole, Trevor R, Toogood, Andrew A, Kirk, Jeremy MW, Plummer, Lacey, Albrecht, Urs, Crowley, William F, Mohammadi, Moosa, Tena‐Sempere, Manuel, Prevot, Vincent, Pitteloud, Nelly
Publicado 2017

Combination of Correctors Rescues CFTR Transmembrane-Domain Mutants by Mitigating their Interactions with Proteostasis

por Lopes-Pacheco, Miquéias, Boinot, Clément, Sabirzhanova, Inna, Rapino, Daniele, Cebotaru, Liudmila
Publicado 2017

A general approach for hysteresis-free, operationally stable metal halide perovskite field-effect transistors

por Senanayak, Satyaprasad P., Abdi-Jalebi, Mojtaba, Kamboj, Varun S., Carey, Remington, Shivanna, Ravichandran, Tian, Tian, Schweicher, Guillaume, Wang, Junzhan, Giesbrecht, Nadja, Di Nuzzo, Daniele, Beere, Harvey E., Docampo, Pablo, Ritchie, David A., Fairen-Jimenez, David, Friend, Richard H., Sirringhaus, Henning
Publicado 2020

Maternal Uniparental Disomy of Chromosome 20 (UPD(20)mat) as Differential Diagnosis of Silver Russell Syndrome: Identification of Three New Cases

por Tannorella, Pierpaola, Minervino, Daniele, Guzzetti, Sara, Vimercati, Alessandro, Calzari, Luciano, Patti, Giuseppa, Maghnie, Mohamad, Allegri, Anna Elsa Maria, Milani, Donatella, Scuvera, Giulietta, Mariani, Milena, Modena, Piergiorgio, Selicorni, Angelo, Larizza, Lidia, Russo, Silvia
Publicado 2021

Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis

por Pollazzon, Marzia, Caraffi, Stefano Giuseppe, Faccioli, Silvia, Rosato, Simonetta, Fodstad, Heidi, Campos-Xavier, Belinda, Soncini, Emanuele, Comitini, Giuseppina, Frattini, Daniele, Grimaldi, Teresa, Marinelli, Maria, Martorana, Davide, Percesepe, Antonio, Sassi, Silvia, Fusco, Carlo, Gargano, Giancarlo, Superti-Furga, Andrea, Garavelli, Livia
Publicado 2021

The Role of Multimodality Imaging for Percutaneous Coronary Intervention in Patients With Chronic Total Occlusions

por Melotti, Eleonora, Belmonte, Marta, Gigante, Carlo, Mallia, Vincenzo, Mushtaq, Saima, Conte, Edoardo, Neglia, Danilo, Pontone, Gianluca, Collet, Carlos, Sonck, Jeroen, Grancini, Luca, Bartorelli, Antonio L., Andreini, Daniele
Publicado 2022

Different Mechanisms Cause Hypomethylation of Both H19 and KCNQ1OT1 Imprinted Differentially Methylated Regions in Two Cases of Silver–Russell Syndrome Spectrum

por Passaretti, Francesco, Pignata, Laura, Vitiello, Giuseppina, Alesi, Viola, D’Elia, Gemma, Cecere, Francesco, Acquaviva, Fabio, De Brasi, Daniele, Novelli, Antonio, Riccio, Andrea, Iolascon, Achille, Cerrato, Flavia
Publicado 2022

Reduced G protein signaling despite impaired internalization and β-arrestin recruitment in patients carrying a CXCR4(Leu317fsX3) mutation causing WHIM syndrome

por Kumar, Rajesh, Milanesi, Samantha, Szpakowska, Martyna, Dotta, Laura, Di Silvestre, Dario, Trotta, Anna Maria, Bello, Anna Maria, Giacomelli, Mauro, Benedito, Manuela, Azevedo, Joana, Pereira, Alexandra, Cortesao, Emilia, Vacchini, Alessandro, Castagna, Alessandra, Pinelli, Marinella, Moratto, Daniele, Bonecchi, Raffaella, Locati, Massimo, Scala, Stefania, Chevigné, Andy, Borroni, Elena M., Badolato, Raffaele
Publicado 2023

IKK2/NFkB signaling controls lung resident CD8(+) T cell memory during influenza infection

por Pritzl, Curtis J., Luera, Dezzarae, Knudson, Karin M., Quaney, Michael J., Calcutt, Michael J., Daniels, Mark A., Teixeiro, Emma
Publicado 2023

Co-occurrence of Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type 1B: coincidence or common molecular mechanism?

por Pignata, Laura, Cecere, Francesco, Acquaviva, Fabio, D’Angelo, Emilia, Cioffi, Daniela, Pellino, Valeria, Palumbo, Orazio, Palumbo, Pietro, Carella, Massimo, Sparago, Angela, De Brasi, Daniele, Cerrato, Flavia, Riccio, Andrea
Publicado 2023

Prenatal Ultrasound Screening: False Positive Soft Markers May Alter Maternal Representations and Mother-Infant Interaction

por Viaux-Savelon, Sylvie, Dommergues, Marc, Rosenblum, Ouriel, Bodeau, Nicolas, Aidane, Elizabeth, Philippon, Odile, Mazet, Philippe, Vibert-Guigue, Claude, Vauthier-Brouzes, Danièle, Feldman, Ruth, Cohen, David
Publicado 2012

2′-O Methylation of the Viral mRNA Cap by West Nile Virus Evades Ifit1-Dependent and -Independent Mechanisms of Host Restriction In Vivo

por Szretter, Kristy J., Daniels, Brian P., Cho, Hyelim, Gainey, Maria D., Yokoyama, Wayne M., Gale, Michael, Virgin, Herbert W., Klein, Robyn S., Sen, Ganes C., Diamond, Michael S.
Publicado 2012