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Investigación
Investigación sobre Anomalías Congénitas
Líneas de investigación
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Unidad de Epigenética y Regulación Génica
Regulación epigenética de la identidad el músculo estriado y su implicación en enfermedades raras del tipo de las miopatías idiopáticas y problemas de conducción cardiaca, tales como la fibrilación atrial y el bloqueo atrioventricular. Ensayos Funcionales de Nuevas Mutaciones en Enfermos no Diagnosticados.
Proyecto PID2020-114773GB-I00 (AEI/10.13039/501100011033) financiado por:
Publicaciones destacadas
Improving the informed consent process in international collaborative rare disease research: effective consent for effective research. Eur J Hum Genet. 2016 Aug;24(9):1248-54
Gainotti S, Turner C, Woods S, Kole A, McCormack P, Lochmüller H, Riess O, Straub V, Posada M, Taruscio D, Mascalzoni D.
PUBMED DOIMonitoring Huntington's Disease Mortality across a 30-Year Period: Geographic and Temporal Patterns. Neuroepidemiology. 2016;47(3-4):155-163
Sánchez-Díaz G, Arias-Merino G, Villaverde-Hueso A, Morales-Piga A, Abaitua-Borda I, Hens M, Bermejo-Sánchez E, Posada de la Paz M, Alonso-Ferreira V.
PUBMED DOILinked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer. Biomed Res Int. 2017;2017:8327980
Sernadela P, González-Castro L, Carta C, van der Horst E, Lopes P, Kaliyaperumal R, Thompson M, Thompson R, Queralt-Rosinach N, Lopez-Martín E, Wood L, Robertson A, Lamanna C, Gilling M, Orth M, Merino-Martinez R, Posada de la Paz M, Taruscio D, Lochmüller H, Robinson P, Roos M, Oliveira JL.
PUBMED DOIImproved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework. Adv Exp Med Biol. 2017;1031:55-94
Baynam G, Bowman F, Lister K, Walker CE, Pachter N, Goldblatt J, Boycott KM, Gahl WA, Kosaki K, Adachi T, Ishii K, Mahede T, McKenzie F, Townshend S, Slee J, Kiraly-Borri C, Vasudevan A, Hawkins A, Broley S, Schofield L, Verhoef H, Groza T, Zankl A, Robinson PN, Haendel M, Brudno M, Mattick JS, Dinger ME, Roscioli T, Cowley MJ, Olry A, Hanauer M, Alkuraya FS, Taruscio D, Posada de la Paz M, Lochmüller H, Bushby K, Thompson R, Hedley V, Lasko P, Mina K, Beilby J, Tifft C, Davis M, Laing NG, Julkowska D, Le Cam Y, Terry SF, Kaufmann P, Eerola I, Norstedt I, Rath A, Suematsu M, Groft SC, Austin CP, Draghia-Akli R, Weeramanthri TS, Molster C, Dawkins HJS.
PUBMED DOIThe RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers. Eur J Hum Genet. 2018 May;26(5):631-643
Gainotti S, Torreri P, Wang CM, Reihs R, Mueller H, Heslop E, Roos M, Badowska DM, de Paulis F, Kodra Y, Carta C, López-Martín E, Miller VR, Filocamo M, Mora M, Thompson M, Rubinstein Y, Posada de la Paz M, Monaco L, Lochmüller H, Taruscio D.
PUBMED DOIThe view of experts on initiatives to be undertaken to promote equity in the access to orphan drugs and specialised care for rare diseases in Spain: A Delphi consensus. Health Policy. 2018 Jun;122(6):590-598
Torrent-Farnell J, Comellas M, Poveda JL, Abaitua I, Gutiérrez-Solana LG, Pérez-López J, Cruz J, Urcelay J, Lizán L.
PUBMED DOIRecommendations for Improving the Quality of Rare Disease Registries. Int J Environ Res Public Health. 2018 Aug 3;15(8):1644
Kodra Y, Weinbach J, Posada de la Paz M, Coi A, Lemonnier SL, van Enckevort D, Roos M, Jacobsen A, Cornet R, Ahmed SF, Bros-Facer V, Popa V, Van Meel M, Renault D, von Gizycki R, Santoro M, Landais P, Torreri P, Carta C, Mascalzoni D, Gainotti S, López-Martín E, Ambrosini A, Müller H, Reis R, Bianchi F, Rubinstein YR, Lochmüller H, Taruscio D.
PUBMED DOIBuilding a theoretical framework for autism spectrum disorders screening instruments in Europe. Child Adolesc Ment Health. 2018 Nov;23(4):359-367
Magán-Maganto M, Jónsdóttir SL, Sánchez-García AB, García-Primo P, Hellendoorn A, Charman T, Roeyers H, Dereu M, Moilanen I, Muratori F, Posada de la Paz M, Rogé B, Oosterling IJ, Yliherva A, Canal-Bedia R.
PUBMED DOIFabry Nephropathy: An Evidence-Based Narrative Review. Kidney Blood Press Res. 2018;43(2):406-421
Del Pino M, Andrés A, Bernabéu AÁ, de Juan-Rivera J, Fernández E, de Dios García Díaz J, Hernández D, Luño J, Fernández IM, Paniagua J, Posada de la Paz M, Rodríguez-Pérez JC, Santamaría R, Torra R, Ambros JT, Vidau P, Torregrosa JV.
PUBMED DOI