|
1.
|
|
11 p, 1014.2 KB |
The broad phenotypic spectrum of PPP2R1A -related neurodevelopmental disorders correlates with the degree of biochemical dysfunction
/
Lenaerts, Lisa (University of Leuven) ;
Reynhout, Sara (KU Leuven Brain Institute (LBI)) ;
Verbinnen, Iris (University of Leuven) ;
Laumonnier, Frédéric (Centre Hospitalier Régional Universitaire (Tours, França)) ;
Toutain, Annick (Centre Hospitalier Régional Universitaire (Tours, França)) ;
Bonnet-Brilhault, Frédérique (Centre Hospitalier Régional Universitaire) ;
Hoorne, Yana (University of Leuven) ;
Joss, Shelagh (Queen Elizabeth University Hospital) ;
Chassevent, Anna K. (Kennedy Krieger Institute) ;
Smith-Hicks, Constance (Kennedy Krieger Institute) ;
Loeys, Bart (University of Antwerp) ;
Joset, Pascal (University of Zurich) ;
Steindl, Katharina (University of Zurich) ;
Rauch, Anita (University of Zurich) ;
Mehta, Sarju G. (Addenbrookes Hospital (Cambridge, Regne Unit)) ;
Chung, Wendy (Columbia University Medical Center) ;
Devriendt, Koenraad (University of Leuven) ;
Holder, Susan E. (North West Thames Regional Genetics Service) ;
Jewett, Tamison (Wake Forest University) ;
Baldwin, Lauren M. (Wake Forest University) ;
Wilson, William G. (University of Virginia) ;
Towner, Shelley (University of Virginia) ;
Srivastava, Siddharth (Boston Children's Hospital (Boston, Estats Units d'Amèrica)) ;
Johnson, Hannah F. (Boston Children's Hospital (Boston, Estats Units d'Amèrica)) ;
Daumer-Haas, Cornelia (Prenatal Medicine Munich) ;
Baethmann, Martina (Klinikum Dritter Orden München) ;
Ruiz, Anna (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Gabau, Elisabeth (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Jain, Vani (University Hospital of Wales) ;
Varghese, Vinod (University Hospital of Wales) ;
Al-Beshri, Ali (University of Alabama at Birmingham) ;
Fulton, Stephen (Le Bonheur Children's Hospital) ;
Wechsberg, Oded (Maccabi Healthcare Services) ;
Orenstein, Naama (Tel Aviv University) ;
Prescott, Katrina (Leeds Teaching Hospitals NHS Trust) ;
Childs, Anne-Marie (Leeds Teaching Hospitals NHS Trust) ;
Faivre, Laurence (Université de Bourgogne) ;
Moutton, Sébastien (Maison de Santé Bordeaux Bagatelle (Talence, França)) ;
Sullivan, Jennifer A. (Duke University Medical Center) ;
Shashi, Vandana (Duke University Medical Center) ;
Koudijs, Suzanne M. (Maastricht UMC+) ;
Heijligers, Malou (Maastricht UMC+) ;
Kivuva, Emma (Royal Devon & Exeter NHS Foundation Trust) ;
McTague, Amy (Great Ormond Street Hospital for Children (Londres)) ;
Male, Alison M. (Great Ormond Street Hospital for Children (Londres)) ;
van Ierland, Yvette (Erasmus MC) ;
Plecko, Barbara (Medical University of Graz) ;
Maystadt, Isabelle (Institut de Pathologie et de Génétique) ;
Hamid, Rizwan (Vanderbilt University Medical Center) ;
Hannig, Vickie L. (Vanderbilt University Medical Center) ;
Houge, Gunnar (Haukeland University Hospital (Bergen, Noruega)) ;
Janssens, Veerle (KU Leuven Brain Institute (LBI)) ;
Universitat Autònoma de Barcelona
Neurodevelopmental disorders (NDD) caused by protein phosphatase 2A (PP2A) dysfunction have mainly been associated with de novo variants in PPP2R5D and PPP2CA, and more rarely in PPP2R1A. Here, we aimed to better understand the latter by characterizing 30 individuals with de novo and often recurrent variants in this PP2A scaffolding Aα subunit. [...]
2020 -  10.1038/s41436-020-00981-2
Genetics in medicine, Vol. 23 Num. 2 (feb. 2021) , p. 352-362
|
|
|
2.
|
|
11 p, 1.6 MB |
Week 96 efficacy and safety results of the phase 3, randomized EMERALD trial to evaluate switching from boosted-protease inhibitors plus emtricitabine/tenofovir disoproxil fumarate regimens to the once daily, single-tablet regimen of darunavir/cobicistat/emtricitabine/tenofovir alafenamide (D/C/F/TAF) in treatment-experienced, virologically-suppressed adults living with HIV-1
/
Eron, J. J. (University of North Carolina School of Medicine) ;
Orkin, C. (Department of HIV Medicine. Royal Free London NHS Foundation Trust) ;
Cunningham, D. (Pueblo Family Physicians) ;
Pulido, F. (Hospital General Universitario de Alicante (Alacant, País Valencià)) ;
Post, F. (King's College Hospital NHS Foundation Trust) ;
De Wit, Stéphane (Université Libre de Bruxelles) ;
Lathouwers, E. (Janssen Pharmaceutica NV) ;
Hufkens, V. (Janssen Pharmaceutica NV) ;
Jezorwski, J. (Janssen Research & Development) ;
Petrovic, R. (Janssen Pharmaceutica NV) ;
Brown, K. (Janssen Pharmaceutica NV) ;
Van Landuyt, E. (Janssen Pharmaceutica NV) ;
Opsomer, M. (Janssen Pharmaceutica NV) ;
De Wit, Stéphane (Université Libre de Bruxelles) ;
Florence, E. (Institute of Tropical Medicine) ;
Moutschen, M. (Liège University Hospital (Bèlgica)) ;
Van Wijngaerden, E. (University Hospitals Leuven (Bèlgica)) ;
Vandekerckhove, L. (Ghent University Hospital. (Bèlgica)) ;
Vandercam, B. (AIDS Reference center. Cliniques Universitaires Saint-Luc) ;
Brunetta, J. (Maple Leaf Medical Clinic) ;
Conway, B. (Vancouver Infectious Diseases Center) ;
Klein, M. (Division of Infectious Diseases. Faculty of Medicine. McGill University Health Centre) ;
Murphy, D. (Institut national de santé publique du Québec) ;
Rachlis, A. (Sunnybrook Health Sciences Centre) ;
Shafran, S. (Department of Medicine. University of Alberta) ;
Walmsley, S. (University Health Network) ;
Ajana, F. (Infectious Diseases Department. Tourcoing Hospital) ;
Cotte, L. (Hospices Civils de Lyon. Hôpital de la Croix-Rousse) ;
Girardy, P. M. (University Pierre & Marie Curie) ;
Katlama, C. (HIV Clinical Research Unit) ;
Molina, J. M. (Department of Infectious Diseases. St-Louis Hospital APHP. University of Paris Diderot) ;
Poizot-Martin, I. (Clinical Immuno-Hematology Department. Aix-Marseille University. Sainte-Marguerite University Hospital and Inserm U912) ;
Raffi, F. (CHU Hôtel Dieu) ;
Rey, D. (Le Trait d'Union. HIV-Infection Care Center. Hôpitaux Universitaires de Strasbourg) ;
Reynes, J. (University Hospital of Montpellier (França)) ;
Teicher, E. (Infectious Diseases Department. APHP. Hôpital Bicêtre) ;
Yazdanpanah, Y. ;
Gasiorowski, J. (Independent Laboratory for Monitoring Infections among Drug Users at the Department of Infectious Diseases. Liver Disease and Acquired Immune Deficiencies. Wroclaw Medical University) ;
Halota, W. (Department of Infectious Diseases and Hepatology. Nicolaus Copernicus University) ;
Horban, A. (Medical University of Warsaw. Department for Adult's Infectious Diseases) ;
Piekarska, A. (Department of Infectious Diseases and Hepatology. Medical University of Lodz) ;
Witor, A. (Regional Hospital. Out-Patient's Clinic for Immune Deficiency) ;
Arribas, Jose (Instituto de Investigación Sanitaria del Hospital Universitario La Paz) ;
Perez-Valero, I. (Hospital Universitario La Paz (Madrid)) ;
Berenguer, Juan (Hospital General Universitario Gregorio Marañón) ;
Casado, José A. (Hospital Universitario Ramón y Cajal (Madrid)) ;
Gatell, J. M. (Infectious Diseases Department. HCB) ;
Gutiérrez, Félix (Hospital General Universitario de Elche) ;
Galindo, María José (Hospital Clínic Universitari (València)) ;
Gutiérrez Macià, Mª Del Mar (Institut d'Investigació Biomèdica Sant Pau) ;
Iribarren, J. A. (Hospital Universitario de Donostia (Sant Sebastià, País Basc)) ;
Knobel Freud, Hernando (Hospital del Mar (Barcelona, Catalunya)) ;
Negredo Puigmal, Eugènia. (Institut Germans Trias i Pujol. Institut de Recerca de la Sida IrsiCaixa) ;
Pineda, J. A. (Hospital Universitario Virgen de Valme (Sevilla, Andalusia)) ;
Podzamczer, Daniel (Institut d'Investigació Biomèdica de Bellvitge) ;
Sogorb, J. P. (Hospital Universitario 12 de Octubre (Madrid)) ;
Pulido, F. (Hospital General Universitario de Alicante (Alacant, País Valencià)) ;
Ricart, C. (Department of Microbiology. School of Medicine. University of Valencia) ;
Rivero Román, Antonio (Hospital Universitario Reina Sofía (Còrdova, Espanya)) ;
Santos Gil, I. (Hospital Universitario de la Princesa (Madrid)) ;
Blaxhult, A. (Department of Infectious Diseases. Venhälsan. Södersjukhuset) ;
Flamholc, L. (Skåne University Hospital (Suècia)) ;
Gisslèn, M. (Department of Infectious Diseases. University of Gothenburg) ;
Thalme, A. (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Fehr, J. (University Hospital Zurich (Suïssa)) ;
Rauch, A. (Bern University Hospital) ;
Stoeckle, M. (University Hospital Basel (Basilea, Suïssa)) ;
Clarke, A. (Claude Nicol Centre. Royal Sussex County Hospital. Brighton and Sussex University Hospitals NHS Trust) ;
Gazzard, B. G. (St. Stephen's Centre. Department of HIV/Genito-Urinary Medicine. Chelsea and Westminster Hospital) ;
Johnson, M. A. (Queen Mary University) ;
Orkin, C. (Department of HIV Medicine. Royal Free London NHS Foundation Trust) ;
Post, F. (King's College Hospital NHS Foundation Trust) ;
Ustianowski, Andrew (Regional Infectious Diseases Unit. North Manchester General Hospital) ;
Waters, L. (University College London Hospital) ;
Bailey, J. (Department of Medicine. Johns Hopkins University School of Medicine) ;
Benson, P. (Be Well Medical) ;
Bhatti, L. (AIDS Healthcare Foundation) ;
Brar, I. (Henry Ford Hospital) ;
Bredeek, U. F. (Metropolis Medical PC) ;
Brinson, C. (Central Texas Clinical Research) ;
Crofoot, G. (The Crofoot Research Center) ;
Cunningham, D. (Pueblo Family Physicians) ;
DeJesus, E. (Pueblo Family Physicians) ;
Dietz, C. (Orlando Immunology Center) ;
Dretler, R. (HIV Medicine. Kansas City Free Health Clinic) ;
Eron, J. (Infectious Disease Specialists of Atlanta) ;
Felizarta, F. (Private Practice) ;
Fichtenbaum, C. (University of Cincinnati College of Medicine) ;
Gallant, J. (Southwest CARE Center) ;
Gathe, J. (Therapeutic Concepts) ;
Hagins, D. (Georgia Department of Public Health. Chatham Care Center) ;
Henn, S. (Whitman-Walker Health) ;
Henry, W. K. (Department of Medicine. University of Minnesota Washington University School of Medicine) ;
Huhn, G. (Ruth M. Rothstein CORE Center) ;
Jain, M. (Department of Internal Medicine. University of Texas Southwestern Medical Center) ;
Lucasti, C. (South Jersey Infectious Disease) ;
Martorell, C. (Infectious Disease and The Research Institute) ;
McDonald, C. (Tarrant County Infectious Disease Associates) ;
Mills, A. (Southern California Men's Medical Group) ;
Morales-Ramirez, J. (Clinical Research Puerto Rico Inc.) ;
Mounzer, K. (Philadelphia FIGHT) ;
Nahass, R. (ID Care) ;
Olivet, H. (Community Research Initiative of New England) ;
Osiyemi, O. (Triple O Research Institute PA) ;
Prelutsky, D. (Department of Internal Medicine. Washington University School of Medicine) ;
Ramgopal, M. (Midway Immunology Center. Fort Pierce) ;
Rashbaum, B. (Capital Medical Associates) ;
Richmond, G. (Broward General Medical Center) ;
Ruane, P. (Ruane Clinical Research Group) ;
Scarsella, A. (Pacific Oaks Medical Group) ;
Scribner, A. (DCOL Center for Clinical Research) ;
Shalit, P. (Peter Shalit MD and Associates) ;
Shamblaw, D. (La Playa Medical Group) ;
Slim, J. (Department of Infectious Diseases. Seton Hall University) ;
Tashima, K. (The Miriam Hospital. Warren Alpert Medical School of Brown University) ;
Voskuhl, G. (AIDS Arms. Inc.) ;
Ward, D. (Dupont Circle Physicians Group) ;
Wilkin, A. (Wake Forest School of Medicine) ;
de Vente, J. (Living Hope Foundation) ;
Universitat Autònoma de Barcelona
Darunavir/cobicistat/emtricitabine/tenofovir alafenamide (D/C/F/TAF) 800/150/200/10 mg was investigated through 96 weeks in EMERALD (NCT02269917). Virologically-suppressed, HIV-1-positive treatment-experienced adults (previous non-darunavir virologic failure [VF] allowed) were randomized (2:1) to D/C/F/TAF or boosted protease inhibitor (PI) plus emtricitabine/tenofovir-disoproxil-fumarate (F/TDF) over 48 weeks. [...]
2019 - 10.1016/j.antiviral.2019.104543
Antiviral Research, Vol. 170 (october 2019) , p. 104543
|
|
visitante ::
identificación
alerta personal vía correo electrónico o subscríbase al 
canal RSS.
