CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings

por Martínez-Monseny, Antonio F., Edo, Albert, Casas-Alba, Dídac, Izquierdo-Serra, Mercè, Bolasell, Mercè, Conejo, David, Martorell, Loreto, Muchart, Jordi, Carrera, Laura, Ortez, Carlos I., Nascimento, Andrés, Oliva, Baldo, Fernández-Fernández, José M., Serrano, Mercedes
Publicado 2021

Combined immune checkpoint inhibitor therapy with nivolumab and ipilimumab causing acute-onset type 1 diabetes mellitus following a single administration: two case reports

por Zezza, Marco, Kosinski, Christophe, Mekoguem, Carine, Marino, Laura, Chtioui, Haithem, Pitteloud, Nelly, Lamine, Faiza
Publicado 2019

Citrus Bright Spot Virus: A New Dichorhavirus, Transmitted by Brevipalpus azores, Causing Citrus Leprosis Disease in Brazil

por Chabi-Jesus, Camila, Ramos-González, Pedro Luis, Tassi, Aline Daniele, Rossetto Pereira, Laura, Bastianel, Marinês, Lau, Douglas, Canale, Maria Cristina, Harakava, Ricardo, Novelli, Valdenice Moreira, Kitajima, Elliot Watanabe, Freitas-Astúa, Juliana
Publicado 2023

Charcot–Marie–Tooth type 2B disease-causing RAB7A mutant proteins show altered interaction with the neuronal intermediate filament peripherin

por Cogli, Laura, Progida, Cinzia, Thomas, Claire L., Spencer-Dene, Bradley, Donno, Claudia, Schiavo, Giampietro, Bucci, Cecilia
Publicado 2012

“The Stay at Home Order is Causing Things to Get Heated Up”: Family Conflict Dynamics During COVID-19 From The Perspectives of Youth Calling a National Child Abuse Hotline

por Sinko, Laura, He, Yuan, Kishton, Rachel, Ortiz, Robin, Jacobs, Larel, Fingerman, Michelle
Publicado 2021

When Cannabis sativa L. Turns Purple: Biosynthesis and Accumulation of Anthocyanins

por Bassolino, Laura, Fulvio, Flavia, Pastore, Chiara, Pasini, Federica, Gallina Toschi, Tullia, Filippetti, Ilaria, Paris, Roberta
Publicado 2023

Comparison between an Acrylic Splint Herbst and an Acrylic Splint Miniscrew-Herbst for Mandibular Incisors Proclination Control

por Manni, Antonio, Pasini, Marco, Mazzotta, Laura, Mutinelli, Sabrina, Nuzzo, Claudio, Grassi, Felice Roberto, Cozzani, Mauro
Publicado 2014

The Biological Significance of Pyruvate Sensing and Uptake in Salmonella enterica Serovar Typhimurium

por Paulini, Stephanie, Fabiani, Florian D., Weiss, Anna S., Moldoveanu, Ana Laura, Helaine, Sophie, Stecher, Bärbel, Jung, Kirsten
Publicado 2022

Genomics of Serratia marcescens Isolates Causing Outbreaks in the Same Pediatric Unit 47 Years Apart: Position in an Updated Phylogeny of the Species

por Saralegui, Claudia, Ponce-Alonso, Manuel, Pérez-Viso, Blanca, Moles Alegre, Laura, Escribano, Esperanza, Lázaro-Perona, Fernando, Lanza, Val F., de Pipaón, Miguel Sáenz, Rodríguez, Juan Miguel, Baquero, Fernando, del Campo, Rosa
Publicado 2020

Heartworm (Dirofilaria immitis) infection in a leopard (Panthera pardus pardus) housed in a zoological park in north-eastern Italy

por Mazzariol, Sandro, Cassini, Rudi, Voltan, Laura, Aresu, Luca, Frangipane di Regalbono, Antonio
Publicado 2010

INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex

por Mascibroda, Lauren G., Shboul, Mohammad, Elrod, Nathan D., Colleaux, Laurence, Hamamy, Hanan, Huang, Kai-Lieh, Peart, Natoya, Singh, Moirangthem Kiran, Lee, Hane, Merriman, Barry, Jodoin, Jeanne N., Sitaram, Poojitha, Lee, Laura A., Fathalla, Raja, Al-Rawashdeh, Baeth, Ababneh, Osama, El-Khateeb, Mohammad, Escande-Beillard, Nathalie, Nelson, Stanley F., Wu, Yixuan, Tong, Liang, Kenney, Linda J., Roy, Sudipto, Russell, William K., Amiel, Jeanne, Reversade, Bruno, Wagner, Eric J.
Publicado 2022

Oculocutaneous albinism: the neurological, behavioral, and neuro-ophthalmological perspective

por Galli, Jessica, Loi, Erika, Dusi, Laura, Pasini, Nadia, Rossi, Andrea, Scaglioni, Vera, Mauri, Lucia, Fazzi, Elisa
Publicado 2023

Perfusion Flow Enhances Viability and Migratory Phenotype in 3D-Cultured Breast Cancer Cells

por Pasini, Alice, Lovecchio, Joseph, Cortesi, Marilisa, Liverani, Chiara, Spadazzi, Chiara, Mercatali, Laura, Ibrahim, Toni, Giordano, Emanuele
Publicado 2021

Novel Pathogenic Variants in the Gene Encoding Stereocilin (STRC) Causing Non-Syndromic Moderate Hearing Loss in Spanish and Argentinean Subjects

por Domínguez-Ruiz, María, Ruiz-Palmero, Laura, Buonfiglio, Paula I., García-Vaquero, Irene, Gómez-Rosas, Elena, Goñi, Marina, Villamar, Manuela, Morín, Matías, Moreno-Pelayo, Miguel A., Elgoyhen, Ana B., del Castillo, Francisco J., Dalamón, Viviana, del Castillo, Ignacio
Publicado 2023

Host-Based Biomarkers in Saliva for the Diagnosis of Pulmonary Tuberculosis in Children: A Mini-Review

por Khambati, Nisreen, Olbrich, Laura, Ellner, Jerrold, Salgame, Padmini, Song, Rinn, Bijker, Else Margreet
Publicado 2021

Rapid, High-Throughput Identification of Anthrax-Causing and Emetic Bacillus cereus Group Genome Assemblies via BTyper, a Computational Tool for Virulence-Based Classification of B...

por Carroll, Laura M., Kovac, Jasna, Miller, Rachel A., Wiedmann, Martin
Publicado 2017

Comparison of Maxillary Molar Distalization with an Implant-Supported Distal Jet and a Traditional Tooth-Supported Distal Jet Appliance

por Cozzani, Mauro, Pasini, Marco, Zallio, Francesco, Ritucci, Robert, Mutinelli, Sabrina, Mazzotta, Laura, Giuca, Maria Rita, Piras, Vincenzo
Publicado 2014

Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile

por Ciolfi, Andrea, Foroutan, Aidin, Capuano, Alessandro, Pedace, Lucia, Travaglini, Lorena, Pizzi, Simone, Andreani, Marco, Miele, Evelina, Invernizzi, Federica, Reale, Chiara, Panteghini, Celeste, Iascone, Maria, Niceta, Marcello, Gavrilova, Ralitza H., Schultz-Rogers, Laura, Agolini, Emanuele, Bedeschi, Maria Francesca, Prontera, Paolo, Garibaldi, Matteo, Galosi, Serena, Leuzzi, Vincenzo, Soliveri, Paola, Olson, Rory J., Zorzi, Giovanna S., Garavaglia, Barbara M., Tartaglia, Marco, Sadikovic, Bekim
Publicado 2021

The hereditary N363K POLE exonuclease mutant extends PPAP tumor spectrum to glioblastomas by causing DNA damage and aneuploidy in addition to increased mismatch mutagenicity

por Labrousse, Guillaume, Vande Perre, Pierre, Parra, Genis, Jaffrelot, Marion, Leroy, Laura, Chibon, Frederic, Escudie, Frederic, Selves, Janick, Hoffmann, Jean-Sebastien, Guimbaud, Rosine, Lutzmann, Malik
Publicado 2023

Predicting steady‐state endoxifen plasma concentrations in breast cancer patients by CYP2D6 genotyping or phenotyping. Which approach is more reliable?

por Gusella, Milena, Pasini, Felice, Corso, Barbara, Bertolaso, Laura, De Rosa, Giovanni, Falci, Cristina, Modena, Yasmina, Barile, Carmen, Da Corte Z, Donatella, Fraccon, AnnaPaola, Toso, Silvia, Cretella, Elisabetta, Brunello, Antonella, Modonesi, Caterina, Segati, Romana, Oliani, Cristina, Minicuci, Nadia, Padrini, Roberto
Publicado 2020