Chantale Langlois, Rossana Jorquera, Milton J. Finegold, Albert L. Shroads, Peter W. Stacpoole, Robert M. Tanguay,
Hereditary tyrosinemia type 1 (HT1) is an autosomal recessive disease severely affecting liver and kidney and is caused by a deficiency in fumarylacetoacetate hydrolase (FAH). Administration of 2-(2-nitro-4-trifluoro-methylbenzyol)-1,3 cyclohexanedione (NTBC) improves the HT1 phenotype but some patients do not respond to NTBC therapy. The objective of the present study was to evaluate whether administration of dichloroacetate, an inhibitor of maleyl acetoacetate isomerase (MAAI) to FAH-knockout mice ...
Tópico(s): Liver Disease Diagnosis and Treatment
2006 - Elsevier BV | Biochemical Pharmacology
Tópico(s): Historical Education and Society
2010 - | Revista de Girona
E. Albert Ginés, Antonio Rodriguez‐Piehardo, Enrique Jorquera, J.C. Moreno, Francisco M. Camacho,
Abstract: A number of craniofacial malformation syndromes are characterized by prominent abnormalities of the skin, hair, nails, and mucous membranes. Crouzon disease has been reported in association with severe acanthosis nigricans in 12 patients. We report a new case of this association in a 16‐year‐old woman with multiple melanocytic nevi. Melanocytic nevi have been already reported in the medical literature in association with several congenital syndromes, although, to our knowledge, not with ...
Tópico(s): Cancer and Skin Lesions
1996 - Wiley | Pediatric Dermatology
Ximena Valverde Ocáriz, Raúl Alberto Jorquera Rossel, Albert Casals,
La educación musical en Chile tiene pendiente centrarse y profundizar en las posibilidades que puede tener la utilización de músicas tradicionales como recurso de aprendizaje interdisciplinar. A raíz de esta problemática, esta investigación se centró en la pertinencia y relevancia que pueden tener las músicas tradicionales como herramienta de aprendizaje integral e interdisciplinar en la educación musical formal. La investigación analizó la implementación y los resultados de una propuesta para sexto ...
Tópico(s): Diverse Music Education Insights
2023 - Jesus Tejada and Universidad de Valencia | Revista Electrónica de LEEME
Ximena Valverde Ocáriz, Raúl Alberto Jorquera Rossel, Albert Casals,
La educación musical en Chile tiene pendiente centrarse y profundizar en las posibilidades que puede tener la utilización de músicas tradicionales como recurso de aprendizaje interdisciplinar. A raíz de esta problemática, esta investigación se centró en la pertinencia y relevancia que pueden tener las músicas tradicionales como herramienta de aprendizaje integral e interdisciplinar en la educación musical formal. La investigación analizó la implementación y los resultados de una propuesta para sexto ...
Tópico(s): Diverse Music Education Insights
2023 - Jesus Tejada and Universidad de Valencia | Revista Electrónica de LEEME
E. Albert Ginés, Antonio Rodriguez‐Piehardo, Enrique Jorquera, J.C. Moreno, Francisco M. Camacho,
Tópico(s): Congenital limb and hand anomalies
1996 - Wiley | Pediatrics International
Masahiro Kanai, Shea J. Andrews, Mattia Cordioli, Christine Stevens, Benjamin M. Neale, Mark J. Daly, Andrea Ganna, Gita A. Pathak, Akiko Iwasaki, Juha Karjalainen, Juha Mehtonen, Matti Pirinen, Karolina Chwiałkowska, Amy Trankiem, Mary K. Balaconis, Kumar Veerapen, Brooke N. Wolford, Hajar Fauzan Ahmad, Shea J. Andrews, Kathrin Aprile von Hohenstaufen Puoti, Cindy G. Boer, Palwendé Romuald Boua, Guillaume Butler‐Laporte, Carmen L. Cadilla, Karolina Chwiałkowska, Francesca Colombo, Venceslas Douillard, Nicole Dueker, Atanu Kumar Dutta, Yasser M. El‐Sherbiny, Madonna M. Eltoukhy, Sahar Esmaeeli, Annika Faucon, Marie-Julie Favé, Israel Fernández Cadenas, Margherita Francescatto, Laurent C. Francioli, Lude Franke, Macarena Fuentes‐Guajardo, Rocío Gallego Durán, David Gómez-Cabrero, Emi N. Harry, Philip R. Jansen, József Szentpéteri, Elżbieta Kaja, Masahiro Kanai, Chloe Kirk, Athanasios Kousathanas, José Eduardo Krieger, Sanjay Patel, Audrey Lemaçon, Sophie Limou, Píetro Lió, Eirini Marouli, M. Marttila, Carolina Medina‐Gómez, Yael Michaeli, Isabelle Migeotte, Soumyajit Mondal, Andrés Moreno‐Estrada, Leire Moya, Tomoko Nakanishi, Jamal Nasir, Dorote Pasko, Nathaniel M. Pearson, Alexandre C. Pereira, James R. Priest, Vid Prijatelj, Ivana Nedeljković, Alexander Teumer, Réka Várnai, Manuel Romero‐Gómez, Christina Roos, Jeffrey Rosenfeld, Ruolin Li, Eva C. Schulte, Claudia Schurmann, Bahareh Sedaghati-khayat, Doaa Shaheen, Ilangumaran Shivanathan, Csilla Sipeky, Zhou Sirui, Pasquale Striano, Yosuke Tanigawa, Alicia Utrilla Remesal, Nirmal Vadgama, Costanza L. Vallerga, Sander W. van der Laan, Ricardo A. Verdugo, Qingbo Wang, Wei Zhou, Ummu Afeera Zainulabid, Ruth N. Zárate, Adam Auton, Janie F. Shelton, Anjali J. Shastri, Catherine H. Weldon, Teresa Filshtein-Sonmez, Daniella Coker, Antony Symons, Stella Aslibekyan, Jared O’Connell, Chelsea Ye, Alexander S. Hatoum, Amit Agrawal, Ryan Bogdan, Sarah M. C. Colbert, Wesley K. Thompson, Chun Fan, Emma C. Johnson, Lyudmila Niazyan, Mher Davidyants, Arsen Arakelyan, Diana Avetyan, Makhabbat Bekbossynova, Ainur Tauekelova, Mukhtar Tuleutayev, Aliya Sailybayeva, Yerlan Ramankulov, Elena Zholdybayeva, Jarkyn Dzharmukhanov, Kuat Kassymbek, Tatyana Tsechoeva, Gulsimzhan Turebayeva, Zauresh Smagulova, Timur Muratov, Sadyk Khamitov, Alex S. F. Kwong, Nicholas J. Timpson, Mari Niemi, Souad Rahmouni, Julien Guntz, Y Beguin, Mattia Cordioli, Sara Pigazzini, Lindokuhle Nkambule, Michel Georges, Michel Moutschen, Benoît Misset, Gilles Darcis, Stéphanie Gofflot, Youssef Bouysran, Adeline Busson, Xavier Peyrassol, Françoise Wilkin, Bruno Pichon, Guillaume Smits, Isabelle Vandernoot, Jean‐Christophe Goffard, Nicky Tiembe, David Morrison, Jonathan Afilalo, Vincent Mooser, J. Brent Richards, Simon Rousseau, Madéleine Durand, Guillaume Butler‐Laporte, Vincenzo Forgetta, Lætitia Laurent, Zaman Afrasiabi, Meriem Bouab, Chris Tselios, Xiaoqing Xue, Marc Afilalo, Maureen Oliveira, Janick St-Cyr, Ariane Boisclair, Jiannis Ragoussis, Daniel Auld, Daniel E. Kaufmann, G. Mark Lathrop, Guillaume Bourque, Simon Décary, Emilia Liana Falcone, Alexandre Montpetit, Alain Piché, Christel Renoux, Natàlia Blay, Sze Man Tse, Ma’n H. Zawati, Lea K. Davis, Nancy J. Cox, Jennifer E. Below, Julia Sealock, Annika Faucon, Megan M. Shuey, Hannah G. Polikowsky, Lauren E. Petty, Douglas M. Shaw, Hung‐Hsin Chen, Wanying Zhu, Axel Schmidt, Kerstin U. Ludwig, Carlo Maj, Selina Rolker, Daniella Balla, Pari Behzad, Markus M. Nöthen, Julia Fazaal, Verena Keitel, Verena Keitel, Björn‐Erik Ole Jensen, Torsten Feldt, Nikolaus Marx, Michael Dreher, Isabell Pink, Markus Cornberg, Thomas Illig, Clara Lehmann, Philipp Schommers, Jan Rybniker, Max Augustin, Lisa Knopp, Ingo Kurth, Thomas Eggermann, Sonja Volland, Marc Moritz Berger, Thorsten Brenner, Anke Hinney, Oliver Witzke, Margarethe Konik, Robert Bals, Christian Herr, Nicole Ludwig, Jörn Walter, Eicke Latz, Susanne V. Schmidt, Jennifer D. Brooks, Shelley B. Bull, Lloyd T. Elliott, France Gagnon, Celia M.T. Greenwood, Rayjean J. Hung, Jerry Lawless, Andrew D. Paterson, Lei Sun, Michael J. Rauh, Laurent Briollais, Anne‐Claude Gingras, Yvonne Bombard, Trevor J. Pugh, Jared T. Simpson, Lee Goneau, Anat R. Halevy, David M. Maslove, Bjug Borgundvaag, Luke Devine, Erin Bearss, David Richardson, Saranya Arnoldo, Steven Friedman, Ahmed Taher, Seth Stern, Marc Dagher, Jovanka Vasilevska‐Ristovska, Catherine M. Biggs, Beata Mickiewicz, Lisa J. Strug, Stephen W. Scherer, Naveed Aziz, Steven J.M. Jones, Bartha Maria Knoppers, Mark Lathrop, Stuart E. Turvey, Rae S. M. Yeung, Upton Allen, Angela M. Cheung, Margaret S. Herridge, Miranda Hunt, Jordan Lerner‐Ellis, Jennifer Taher, Rulan S. Parekh, Linda T. Hiraki, Juthaporn Cowan, Francine M. Ducharme, Mario Ostrowski, François Bernier, Jim Kellner, Elika Garg, Samantha Yoo, Caitlyn Vlasschaert, Erika Frangione, Monica Chung, Abdul Noor, Elena Greenfeld, Karen Colwill, Marc Clausen, Gary Chao, FengYun Yue, Marvin J. Fritzler, Joseph Whitney, Bhooma Thiruvahindrapuram, Jean‐Michel Garant, Rohan Abraham, Adrienne D. Davis, Aaron Campigotto,
Investigating the role of host genetic factors in COVID-19 severity and susceptibility can inform our understanding of the underlying biological mechanisms that influence adverse outcomes and drug development 1,2 .Here we present a second updated genome-wide association study (GWAS) on COVID-19 severity and infection susceptibility to SARS-CoV-2 from the COVID-19 Host Genetic Initiative (data release 7).We performed a meta-analysis of up to 219,692 cases and over 3 million controls, identifying 51 ...
Nature Portfolio
Marianne J. Case, Iván Soltész,
... electrophysiology (Crépel et al., 2007Crépel V. Aronov D. Jorquera I. Represa A. Ben-Ari Y. Cossart R. ... al., 2009Bonifazi P. Goldin M. Picardo M.A. Jorquera I. Cattani A. Bianconi G. Represa A. Ben- ... al., 2009Bonifazi P. Goldin M. Picardo M.A. Jorquera I. Cattani A. Bianconi G. Represa A. Ben- ... Scholar, Crépel et al., 2007Crépel V. Aronov D. Jorquera I. Represa A. Ben-Ari Y. Cossart R. ... network as described in Figure 1 (Barabási and Albert, 1999Barabási A.-L. Albert R. Science. 1999; 286: 509-512Crossref PubMed Scopus ( ...
Tópico(s): Neuroscience and Neural Engineering
2009 - Cell Press | Neuron
Zobair M. Younossi, Vlad Ratziu, Rohit Loomba, Mary E. Rinella, Quentin M. Anstee, Zachary Goodman, Pierre Bédossa, Andreas Geier, Susanne Beckebaum, Philip N. Newsome, David Sheridan, Muhammad Y. Sheikh, James F. Trotter, W Knapple, Eric Lawitz, Manal F. Abdelmalek, Kris V. Kowdley, Aldo J. Montaño‐Loza, Jérôme Boursier, Philippe Mathurin, Elisabetta Bugianesi, G. Mazzella, Antonio Olveira, Helena Cortez‐Pinto, Isabel Graupera, David Orr, Lise Lotte Gluud, Jean‐François Dufour, David E. Shapiro, Jason Campagna, Luna Zaru, Leigh MacConell, Reshma Shringarpure, Stephen A. Harrison, Arun J. Sanyal, Manal F. Abdelmalek, Gary A. Abrams, Humberto Aguilar, Aijaz Ahmed, Elmar Aigner, Guruprasad P. Aithal, Aftab Ala, William Alazawi, Agustı́n Albillos, Michael Allison, Sfa Al-Shamma, Raúl J. Andrade, Pietro Andreoné, M. Angélico, Victor Ankoma‐Sey, Quentin M. Anstee, Rodolphe Anty, Víctor Araya, Juan Ignacio Arenas Ruiz, Perttu Arkkila, Marty Arora, Tarik Asselah, Jennifer Au, Oyekoya T. Ayonrinde, Robert J. Bailey, Maya Balakrishnan, Kiran Bambha, Meena B. Bansal, Sidney Barritt, John Bate, Jorge Beato, Susanne Beckebaum, Jaideep Behari, Pablo Bellot, Ziv Ben Ari, Michael Bennett, Marina Berenguer, Benedetta Terziroli Beretta‐Piccoli, Thomas Berg, Maurizio Bonacini, Lucía Bonet, Brian B. Borg, Marc Bourlière, Jérôme Boursier, William D. Bowman, David Bradley, Marija Branković, Marius Braun, Jean-Pierre Bronowicki, Savino Bruno, Elisabetta Bugianesi, Cindy X. Cai, Amy Calderon, José Luís Calleja, Elizabeth J. Carey, Michal Carmiel, J.A. Carrión, Matthew C. Cave, Cristina Chagas, Tawfik N. Chami, Alan K. Chang, Allan Coates, Jeremy Cobbold, Charlote Costentin, Kathleen E. Corey, Lynsey Corless, Helena Cortez‐Pinto, Javier Crespo, O. Pereira, Victor de Lédinghen, Andrew S. deLemos, M. Diago, Mamie Dong, Jean‐François Dufour, Predrag Dugalić, Billy Dunn, Magby Elkhashab, Michael Epstein, Maria Desamparados Escudero-García, Ohad Etzion, Larry Evans, Robert E. Falcone, Conrado Fernández‐Rodríguez, José Carlos Ferreira, Scott Fink, Kevin T. Finnegan, Roberto Firpi-Morell, Annarosa Floreani, Thierry Fontanges, Ryan Ford, Ewan Forrest, Andrew Fowell, Anna Ludovica Fracanzani, Sven Francque, B. Freilich, Juan P. Frías, Michael Fuchs, Javier Fuentes, Michael Galambos, Juan Gallegos, Anja Geerts, Andreas Geier, George Casella, Maged P. Ghali, Reem Ghalib, Pierre Gholam, Pere Ginès, Norman Gitlin, Lise Lotte Gluud, Tobias Goeser, John S. Goff, Stuart C. Gordon, Fredric D. Gordon, Odile Goria, Shaun Greer, А В Григорян, Henning Grønbæk, Maéva Guillaume, Naresh T. Gunaratnam, Dina Halegoua‐De Marzio, Bilal Hameed, S Hametner, James Hamilton, Stephen Harrison, Marek Hartleb, Tarek Hassanein, Dieter Häussinger, Paul Hellstern, Robert Herring, Eva Heurich, Christophe Hezode, Holger Hinrichsen, Peter Holland Fischer, Yves Horsmans, Jonathan Huang, Hyder Hussaini, Antoine Jakiche, Lennox Jeffers, Blake Jones, Rosa Jorge, Francisco Jorquera, Shoba Joshi, Alişan Kahraman, Kelly Kaita, N C Karyotakis, Zeid Kayali, Stergios Kechagias, Thomas Kepczyk, Mandana Khalili, Hicham Khallafi, Johannes Kluwe, W Knapple, Anita Kohli, Kevin Korenblat, Kris V. Kowdley, Aleksander Krag, Richard A. Krause, Andreas E. Kremer, Karen Krok, Miodrag Krstić, Marcelo Kugelmas, Sonal Kumar, Scott K. Kuwada, Damien Labarrière, Michelle Lai, Wim Laleman, Pietro Lampertico, Eric Lawitz, Alice Lee, Vincent Leroy, Steven D. Lidofsky, Tina Huey Lim, Joseph K. Lim, Donald Lipkis, Ester C. Little, A. Di Lonardo, Michelle T. Long, Rohit Loomba, Velimir A. Luketic, Yoav Lurie, Guilherme Macedo, Joana Magalhães, Mihály Makara, Benedict Maliakkal, Michael Manns, Pinelopi Manousou, Parvez Mantry, Giulio Marchesini, Carla Marinho, Paul Marotta, Hanns‐Ulrich Marschall, Linda Sprague Martínez, Philippe Mathurin, Marlyn J. Mayo, G. Mazzella, M. McCullen, William McLaughlin, Uta Merle, Raphael B. Merriman, Apurva A. Modi, Esther Molina, Aldo J. Montaño‐Loza, Carlos Monteverde, A. Cardona, Sulleman Moreea, Christophe Moreno, Filomena Morisco, Abdullah Mubarak, Beat Muellhaupt, Sandeep Mukherjee, Tobias Müller, Aleksandar Nagorni, Jahnavi Naik, Guy Neff, Moises I. Nevah, Philip N. Newsome, Eric Nguyen‐Khac, Mazen Noureddin, Jude A. Oben, Antonio Olveira, Hans Orlent, David Orr, James Orr, Grisell Ortiz‐Lasanta, Violaine Ozenne, Prashant Pandya, Angelo H. Paredes, James Park, Joykumar Patel, Keyur P. Patel, Sonali Paul, Heather Patton, Markus Peck‐Radosavljevic, Salvatore Petta, Stephen Pianko, Anna Piekarska, Neville R. Pimstone, Joseph R. Pisegna, Paul J. Pockros, Stanislas Pol, Michael K. Porayko, John Poulos, David Pound, Joe Pouzar, José Presa Ramos, Nikolaos Pyrsopoulos, Nila Rafiq, Kate Muller, Alnoor Ramji, Vlad Ratziu, Ravi Ravinuthala, Chakradhar Reddy, Gautham Reddy K G, K. Rajender Reddy K R, Frederic Regenstein, Robert Reindollar, Justin Reynolds, Andrés Ricardo Pérez‐Riera, Mary E. Rinella, Jose Rivera Acosta, Geert Robaeys,
Background Non-alcoholic steatohepatitis (NASH) is a common type of chronic liver disease that can lead to cirrhosis. Obeticholic acid, a farnesoid X receptor agonist, has been shown to improve the histological features of NASH. Here we report results from a planned interim analysis of an ongoing, phase 3 study of obeticholic acid for NASH. Methods In this multicentre, randomised, double-blind, placebo-controlled study, adult patients with definite NASH, non-alcoholic fatty liver disease (NAFLD) activity ...
Elsevier BV
Miguel Ángel Martínez‐García, Grace Oscullo, José Daniel Gómez-Olivas, David Gozal,
... Ortiz-Maraima T, Rodríguez-Viñoles MP, Bucce R, Jorquera A, Rodríguez B. Serum leptin and ultrasound markers ...
Tópico(s): Respiratory Support and Mechanisms
2023 - American Academy of Sleep Medicine | Journal of Clinical Sleep Medicine