Zobrazeno 1 - 10
of 340
pro vyhledávání: '"Manuel Posada"'
Autor:
Alberto Lopez-de la Rosa, Juan J. Telleria, Manuel Posada de la Paz, Isabel M. Hermosilla-Gimeno, Miren Agurtzane Rivas, Raúl Gilabert, Rosa M. Coco-Martín
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-14 (2024)
Abstract Background The low prevalence of rare diseases poses a significant challenge in advancing their understanding. This study aims to delineate the clinical and genetic characteristics of patients with rare eye diseases (RED) enrolled in the Spa
Externí odkaz:
https://doaj.org/article/f018bef5c5714036a4133b906e0fd551
Autor:
Maria Luisa Scattoni, Laura Maria Fatta, Martina Micai, Maria Enrica Sali, Marina Bellomo, Tommaso Salvitti, Francesca Fulceri, Angela Castellano, Massimo Molteni, Giovanna Gambino, Manuel Posada, Giovanna Romano, Maria Puopolo
Publikováno v:
Child and Adolescent Psychiatry and Mental Health, Vol 17, Iss 1, Pp 1-13 (2023)
Abstract Background This nationwide study aimed to estimate Autism Spectrum Disorder (ASD) prevalence in 7–9-year-old Italian children. Promoted by Italy's Ministry of Health and coordinated by the National Observatory for Autism at the National In
Externí odkaz:
https://doaj.org/article/d6da4b9f10264b9da6f44013a1449b55
Autor:
Savino Sciascia, Dario Roccatello, Marco Salvatore, Claudio Carta, Laura L. Cellai, Gianluca Ferrari, Aimè Lumaka, Stephen Groft, Yasemin Alanay, Maleeha Azam, Gareth Baynam, Helene Cederroth, Eva Maria Cutiongco-de la Paz, Vajira Harshadeva Weerabaddana Dissanayake, Roberto Giugliani, Claudia Gonzaga-Jauregui, Dineshani Hettiarachchi, Oleg Kvlividze, Guida Landoure, Prince Makay, Béla Melegh, Ugur Ozbek, Ratna Dua Puri, Vanessa I. Romero, Vinod Scaria, Saumya S. Jamuar, Vorasuk Shotelersuk, William A. Gahl, Samuel A. Wiafe, Olaf Bodamer, Manuel Posada, Domenica Taruscio
Publikováno v:
Frontiers in Public Health, Vol 11 (2023)
BackgroundPatients, families, the healthcare system, and society as a whole are all significantly impacted by rare diseases (RDs). According to various classifications, there are currently up to 9,000 different rare diseases that have been recognized
Externí odkaz:
https://doaj.org/article/da71af76c6954864ad49d713a5a8c259
Autor:
Célia Rasga, João Xavier Santos, Cátia Café, Alexandra Oliveira, Frederico Duque, Manuel Posada, Ana Nunes, Guiomar Oliveira, Astrid Moura Vicente
Publikováno v:
Frontiers in Psychiatry, Vol 14 (2023)
IntroductionAccurate prevalence estimates for Autism Spectrum Disorder (ASD) are fundamental to adequately program medical and educational resources for children. However, estimates vary globally and across Europe, and it is therefore wise to conduct
Externí odkaz:
https://doaj.org/article/adc00bdba20a4535b18d2d9d3ecaff36
Autor:
Juan Benito-Lozano, Blanca López-Villalba, Greta Arias-Merino, Manuel Posada de la Paz, Verónica Alonso-Ferreira
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)
Abstract Background According to the International Rare Diseases Research Consortium (IRDiRC), a known rare disease (RD) should be diagnosable within a year. This study sought: firstly, to ascertain how long it takes to obtain the diagnosis of a RD i
Externí odkaz:
https://doaj.org/article/f1be6d4cfd7e48ac88604356ded4cca5
Autor:
Adam Jackson, Sheng-Jia Lin, Elizabeth A. Jones, Kate E. Chandler, David Orr, Celia Moss, Zahra Haider, Gavin Ryan, Simon Holden, Mike Harrison, Nigel Burrows, Wendy D. Jones, Mary Loveless, Cassidy Petree, Helen Stewart, Karen Low, Deirdre Donnelly, Simon Lovell, Konstantina Drosou, Gaurav K. Varshney, Siddharth Banka, J.C. Ambrose, P. Arumugam, R. Bevers, M. Bleda, F. Boardman-Pretty, C.R. Boustred, H. Brittain, M.A. Brown, M.J. Caulfield, G.C. Chan, A. Giess, J.N. Griffin, A. Hamblin, S. Henderson, T.J.P. Hubbard, R. Jackson, L.J. Jones, D. Kasperaviciute, M. Kayikci, A. Kousathanas, L. Lahnstein, A. Lakey, S.E.A. Leigh, I.U.S. Leong, F.J. Lopez, F. Maleady-Crowe, M. McEntagart, F. Minneci, J. Mitchell, L. Moutsianas, M. Mueller, N. Murugaesu, A.C. Need, P. O‘Donovan, C.A. Odhams, C. Patch, D. Perez-Gil, M.B. Pereira, J. Pullinger, T. Rahim, A. Rendon, T. Rogers, K. Savage, K. Sawant, R.H. Scott, A. Siddiq, A. Sieghart, S.C. Smith, A. Sosinsky, A. Stuckey, M. Tanguy, A.L. Taylor Tavares, E.R.A. Thomas, S.R. Thompson, A. Tucci, M.J. Welland, E. Williams, K. Witkowska, S.M. Wood, M. Zarowiecki, Olaf Riess, Tobias B. Haack, Holm Graessner, Birte Zurek, Kornelia Ellwanger, Stephan Ossowski, German Demidov, Marc Sturm, Julia M. Schulze-Hentrich, Rebecca Schüle, Christoph Kessler, Melanie Wayand, Matthis Synofzik, Carlo Wilke, Andreas Traschütz, Ludger Schöls, Holger Hengel, Peter Heutink, Han Brunner, Hans Scheffer, Nicoline Hoogerbrugge, Alexander Hoischen, Peter A.C. ’t Hoen, Lisenka E.L.M. Vissers, Christian Gilissen, Wouter Steyaert, Karolis Sablauskas, Richarda M. de Voer, Erik-Jan Kamsteeg, Bart van de Warrenburg, Nienke van Os, Iris te Paske, Erik Janssen, Elke de Boer, Marloes Steehouwer, Burcu Yaldiz, Tjitske Kleefstra, Anthony J. Brookes, Colin Veal, Spencer Gibson, Marc Wadsley, Mehdi Mehtarizadeh, Umar Riaz, Greg Warren, Farid Yavari Dizjikan, Thomas Shorter, Ana Töpf, Volker Straub, Chiara Marini Bettolo, Sabine Specht, Jill Clayton-Smith, Elizabeth Alexander, Laurence Faivre, Christel Thauvin, Antonio Vitobello, Anne-Sophie Denommé-Pichon, Yannis Duffourd, Emilie Tisserant, Ange-Line Bruel, Christine Peyron, Aurore Pélissier, Sergi Beltran, Ivo Glynne Gut, Steven Laurie, Davide Piscia, Leslie Matalonga, Anastasios Papakonstantinou, Gemma Bullich, Alberto Corvo, Carles Garcia, Marcos Fernandez-Callejo, Carles Hernández, Daniel Picó, Ida Paramonov, Hanns Lochmüller, Gulcin Gumus, Virginie Bros-Facer, Ana Rath, Marc Hanauer, Annie Olry, David Lagorce, Svitlana Havrylenko, Katia Izem, Fanny Rigour, Giovanni Stevanin, Alexandra Durr, Claire-Sophie Davoine, Léna Guillot-Noel, Anna Heinzmann, Giulia Coarelli, Gisèle Bonne, Teresinha Evangelista, Valérie Allamand, Isabelle Nelson, Rabah Ben Yaou, Corinne Metay, Bruno Eymard, Enzo Cohen, Antonio Atalaia, Tanya Stojkovic, Milan Macek, Jr., Marek Turnovec, Dana Thomasová, Radka Pourová Kremliková, Vera Franková, Markéta Havlovicová, Vlastimil Kremlik, Helen Parkinson, Thomas Keane, Dylan Spalding, Alexander Senf, Peter Robinson, Daniel Danis, Glenn Robert, Alessia Costa, Christine Patch, Mike Hanna, Henry Houlden, Mary Reilly, Jana Vandrovcova, Francesco Muntoni, Irina Zaharieva, Anna Sarkozy, Vincent Timmerman, Jonathan Baets, Liedewei Van de Vondel, Danique Beijer, Peter de Jonghe, Vincenzo Nigro, Sandro Banfi, Annalaura Torella, Francesco Musacchia, Giulio Piluso, Alessandra Ferlini, Rita Selvatici, Rachele Rossi, Marcella Neri, Stefan Aretz, Isabel Spier, Anna Katharina Sommer, Sophia Peters, Carla Oliveira, Jose Garcia Pelaez, Ana Rita Matos, Celina São José, Marta Ferreira, Irene Gullo, Susana Fernandes, Luzia Garrido, Pedro Ferreira, Fátima Carneiro, Morris A. Swertz, Lennart Johansson, Joeri K. van der Velde, Gerben van der Vries, Pieter B. Neerincx, Dieuwke Roelofs-Prins, Sebastian Köhler, Alison Metcalfe, Alain Verloes, Séverine Drunat, Caroline Rooryck, Aurelien Trimouille, Raffaele Castello, Manuela Morleo, Michele Pinelli, Alessandra Varavallo, Manuel Posada De la Paz, Eva Bermejo Sánchez, Estrella López Martín, Beatriz Martínez Delgado, F. Javier Alonso García de la Rosa, Andrea Ciolfi, Bruno Dallapiccola, Simone Pizzi, Francesca Clementina Radio, Marco Tartaglia, Alessandra Renieri, Elisa Benetti, Peter Balicza, Maria Judit Molnar, Ales Maver, Borut Peterlin, Alexander Münchau, Katja Lohmann, Rebecca Herzog, Martje Pauly, Alfons Macaya, Anna Marcé-Grau, Andres Nascimiento Osorio, Daniel Natera de Benito, Rachel Thompson, Kiran Polavarapu, David Beeson, Judith Cossins, Pedro M. Rodriguez Cruz, Peter Hackman, Mridul Johari, Marco Savarese, Bjarne Udd, Rita Horvath, Gabriel Capella, Laura Valle, Elke Holinski-Feder, Andreas Laner, Verena Steinke-Lange, Evelin Schröck, Andreas Rump
Publikováno v:
HGG Advances, Vol 4, Iss 2, Pp 100186- (2023)
Summary: TSPEAR variants cause autosomal recessive ectodermal dysplasia (ARED) 14. The function of TSPEAR is unknown. The clinical features, the mutation spectrum, and the underlying mechanisms of ARED14 are poorly understood. Combining data from new
Externí odkaz:
https://doaj.org/article/2978ae9e34b04565adb7415c6d46eb52
Autor:
María Magán‐Maganto, Ricardo Canal‐Bedia, Álvaro Bejarano‐Martín, Maria Victoria Martín‐Cilleros, Aránzazu Hernández‐Fabián, Andrea Luz Calvarro‐Castañeda, Herbert Roeyers, Cristina Jenaro‐Río, Manuel Posada de la Paz
Publikováno v:
Health Science Reports, Vol 6, Iss 3, Pp n/a-n/a (2023)
Abstract Background and Aims Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a higher likelihood of being diagnosed in preterm populations. Likewise, low birthweight has also been connected with an increased likelihood of ASD. Th
Externí odkaz:
https://doaj.org/article/119b3794b7df48ad89aac54c32327bef
Autor:
Domenica Taruscio, Marco Salvatore, Aimè Lumaka, Claudio Carta, Laura L. Cellai, Gianluca Ferrari, Savino Sciascia, Stephen Groft, Yasemin Alanay, Maleeha Azam, Gareth Baynam, Helene Cederroth, Eva Maria Cutiongco-de la Paz, Vajira Harshadeva Weerabaddana Dissanayake, Roberto Giugliani, Claudia Gonzaga-Jauregui, Dineshani Hettiarachchi, Oleg Kvlividze, Guida Landoure, Prince Makay, Béla Melegh, Ugur Ozbek, Ratna Dua Puri, Vanessa Romero, Vinod Scaria, Saumya S. Jamuar, Vorasuk Shotelersuk, Dario Roccatello, William A. Gahl, Samuel A. Wiafe, Olaf Bodamer, Manuel Posada
Publikováno v:
Frontiers in Public Health, Vol 11 (2023)
IntroductionRare diseases (RD) are a health priority worldwide, overall affecting hundreds of millions of people globally. Early and accurate diagnosis is essential to support clinical care but remains challenging in many countries, especially the lo
Externí odkaz:
https://doaj.org/article/2227df40187d4d7eabf002601c80d926
Autor:
Laura Llamosas-Falcón, Germán Sánchez-Díaz, Elisa Gallego, Ana Villaverde-Hueso, Greta Arias-Merino, Manuel Posada de la Paz, Verónica Alonso-Ferreira
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-8 (2022)
Abstract Muscular dystrophies (MD) are a group of rare hereditary degenerative diseases. Our aim was to analyze the mortality pattern in Spain from 1981 to 2016 to assess the temporal trend and discern possible geographic differences using population
Externí odkaz:
https://doaj.org/article/4a3dab243d764ebf8ad59aa47cb26a2a
Autor:
William A. Gahl, Olaf Bodamer, Helene Cederroth, Roberto Giugliani, Eric Klee, Manuel Posada De La Paz, Olaf Horst Riess, Domenica Taruscio
Publikováno v:
Rare, Vol 1, Iss , Pp 100002- (2023)
Externí odkaz:
https://doaj.org/article/2c232af760544011873c8a17d6b8031a