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López-Bastida J, Linertová R, Oliva-Moreno J, Posada-de-la-Paz M, Serrano-Aguilar P. Social economic costs and health-related quality of life in patients with systemic sclerosis in Spain. Arthritis Care Res (Hoboken) ; 2014 Mar. 66(3):473-80. http://www.ncbi.nlm.nih.gov/pubmed/24022829Lara Gallego B, Abaitua Borda I, Galán Gil G, Castillo Villegas D, Casanova Espinosa A, Cano Jiménez E, Ojanguren Arranz I, Posada de la Paz M. Respiratory Diseases Registries in the National Registry of Rare Diseases. Arch Bronconeumol. 2014 Sep;50(9):397-403. http://www.ncbi.nlm.nih.gov/pubmed/24703816Villaverde-Hueso A, Alonso V, Morales-Piga A, Hens-Pérez M, Abaitua I, Posada-de-la-Paz M. Childhood vasculitis hospitalizations in Spain, 1997-2011. Georgian Med News ;2014 May. (230):65-72. http://www.ncbi.nlm.nih.gov/pubmed/24940860Lara B, Martínez MT, Blanco I, Hernández-Moro C, Velasco EA, Ferrarotti I, Rodriguez-Frias F, Perez L, Vazquez I, Alonso J, Posada M, Martínez-Delgado B. Severe alpha-1 antitrypsin deficiency in composite heterozygotes inheriting a new splicing mutation QOMadrid. Respir Res 2014;15:125. http://www.ncbi.nlm.nih.gov/pubmed/25287719Thompson R, Johnston L, Taruscio D, Monaco L, Béroud C, Gut IG, Hansson MG, 't Hoen PB, Patrinos GP, Dawkins H, Ensini M, Zatloukal K, Koubi D, Heslop E, Paschall JE, Posada M, Robinson PN, Bushby K, Lochmüller H. RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research. J Gen Intern Med ; 2014 Aug. 29 Suppl 3:S780-7. http://www.ncbi.nlm.nih.gov/pubmed/25029978López-Cacho JM, Gallardo S, Posada M, Aguerri M, Calzada D, Mayayo T, González-Rodríguez ML, Rabasco AM, Lahoz C, Cárdaba B. Association of immunological cell profiles with specific clinical phenotypes of scleroderma disease. Biomed Res Int ;2014:148293. http://www.ncbi.nlm.nih.gov/pubmed/24818126Ruiz E, Ramalle-Gómara E, Elena Á, Quiñones C, Alonso V, Posada M. Trends in systemic lupus erythematosus mortality in Spain from 1981 to 2010. Lupus ; 2014 Apr. 23(4):431-5. http://www.ncbi.nlm.nih.gov/pubmed/24326482Taruscio D, Vittozzi L, Choquet R, Heimdal K, Iskrov G, Kodra Y, Landais P, Posada M, Stefanov R, Steinmueller C, Swinnen E, Van Oyen H. National registries of rare diseases in europe: an overview of the current situation and experiences. Public Health Genomics ; 2015. 18(1):20-5. http://www.ncbi.nlm.nih.gov/pubmed/25228300Castaño A, Cutanda F, Esteban M, Pärt P, Navarro C, Gómez S, Rosado M, López A, López E, Exley K, Schindler BK, Govarts E, Casteleyn L, […], Lavranos G, Posada M. Fish consumption patterns and hair mercury levels in children and their mothers in 17 EU countries. Environ Res ; 2015 Aug. 141:58-68. http://www.ncbi.nlm.nih.gov/pubmed/25667172Bladen CL, Salgado D, Monges S, Foncuberta ME, Kekou K, Kosma K, Dawkins H, Lamont L, Roy AJ, Chamova T, Guergueltcheva V, Chan S, Korngut L, Campbell C, […] Posada M, Bloetzer C, Jeannet PY, Joncourt F, Díaz-Manera J, Gallardo E, Karaduman AA, Topaloğlu H, El Sherif R, Stringer A, Shatillo AV, Martin AS, Peay HL, Bellgard MI, Kirschner J, Flanigan KM, Straub V, Bushby K, Verschuuren J, Aartsma-Rus A, Béroud C, Lochmüller H. The TREAT-NMD DMD Global database: Analysis of More Than 7000 Duchenne Muscular Dystrophy Mutations. Hum Mutat. 2015 Apr;36(4):395-402. http://www.ncbi.nlm.nih.gov/pubmed/25604253Morales-Piga AA, García Callejo FJ, González Herranz P, Bachiller-Corral J. [Epidemiologic and public-health issues of progressive fibrodysplasia ossificans in Spain]. Med Clin (Barc) ; 2015 Feb. 144(4):183. http://www.ncbi.nlm.nih.gov/pubmed/24787683Paz S, Torrent J, Poveda JL, Perez J, Moreno JL, Martin A, Gonzalez L, Cruz J, Comellas M, Abaitua I, Urcelay J. Experts Consensus on The Future of Rare Diseases Care and Orphan Drugs Access In Spain: A Delphi Study. Value Health ; 2015 Nov. 18(7):A679. http://www.ncbi.nlm.nih.gov/pubmed/26533805Morales-Piga A, Bachiller-Corral J, González-Herranz P, Medrano-SanIldelfonso M, Olmedo-Garzón J, Sánchez-Duffhues G. Osteochondromas in fibrodysplasia ossificans progressiva: a widespread trait with a streaking but overlooked appearance when arising at femoral bone end. Rheumatol Int ; 2015 Oct. 35(10):1759-67. http://www.ncbi.nlm.nih.gov/pubmed/26049728 Zoni AC, Domínguez Berjón MF, Barceló E, Esteban Vasallo MD, Abaitua I, Jiménez Villa J, Margolles Martins M, Navarro C, Posada M, Ramos Aceitero JM, Vázquez Santos C, Zurriaga Llorens O, Astray Mochales J. Identifying data sources for a national population-based registry: the experience of the Spanish Rare Diseases Registry. Public Health ; 2015 Mar. 129(3):271-5. http://www.ncbi.nlm.nih.gov/pubmed/8495Cavero-Carbonell C, Gras-Colomer E, Guaita-Calatrava R, López-Briones C, Amorós R, Abaitua I, Posada M, Zurriaga O. Consensus on the criteria needed for creating a rare-disease patient registry. A Delphi study. J Public Health (Oxf). 2016 Jun;38(2):e178-86. http://www.ncbi.nlm.nih.gov/pubmed/26294444Mora M, Angelini C, Bignami F, Bodin AM, Crimi M, Di Donato JH, Felice A, Jaeger C, Karcagi V, LeCam Y, Lynn S, Meznaric M, Moggio M, Monaco L, Politano L, de la Paz MP, Saker S, Schneiderat P, Ensini M, Garavaglia B, Gurwitz D, Johnson D, Muntoni F, Puymirat J, Reza M, Voit T, Baldo C, Bricarelli FD, Goldwurm S, Merla G, Pegoraro E, Renieri A, Zatloukal K, Filocamo M, Lochmüller H. The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases. Eur J Hum Genet ; 2015 Sep. 23(9):1116-23. http://www.ncbi.nlm.nih.gov/pubmed/25537360Casteleyn L, Dumez B, Becker K, Kolossa-Gehring M, Den Hond E, Schoeters G, Castaño A, Koch HM, Angerer J, Esteban M, Exley K, Sepai O, Bloemen L, [..] Posada M, López E, Berglund M, Larsson K, Lehmann A, Crettaz P, Aerts D. A pilot study on the feasibility of European harmonized human biomonitoring: Strategies towards a common approach, challenges and opportunities. Environ Res. 2015 Aug;141:3-14. http://www.ncbi.nlm.nih.gov/pubmed/25746298Coi A, Santoro M, Villaverde-Hueso A, Lipucci Di Paola M, Gainotti S, Taruscio D, Posada de la Paz M, Bianchi F. The Quality of Rare Disease Registries: Evaluation and Characterization. Public Health Genomics ; 2016. 19(2):108-15. http://www.ncbi.nlm.nih.gov/pubmed/26998603Angelis A, Kanavos P, López-Bastida J, Linertová R, Oliva-Moreno J, Serrano-Aguilar P, Posada-de-la-Paz M, Taruscio D, Schieppati A, Iskrov G, Brodszky V, von der Schulenburg JM, Chevreul K, Persson U, Fattore G. Social/economic costs and health-related quality of life in patients with epidermolysis bullosa in Europe. Eur J Health Econ ; 2016 Apr. 17 Suppl 1:31-42. http://www.ncbi.nlm.nih.gov/pubmed/27107597Kuhlmann A, Schmidt T, Treskova M, López-Bastida J, Linertová R, Oliva-Moreno J, Serrano-Aguilar P, Posada-de-la-Paz M, Kanavos P, Taruscio D, Schieppati A, Iskrov G, Péntek M, Delgado C, von der Schulenburg JM, Persson U, Chevreul K, Fattore G. Social/economic costs and health-related quality of life in patients with juvenile idiopathic arthritis in Europe. Eur J Health Econ ; 2016 Apr. 17 Suppl 1:79-87. http://www.ncbi.nlm.nih.gov/pubmed/27086322Chevreul K, Gandré C, Brigham KB, López-Bastida J, Linertová R, Oliva-Moreno J, Serrano-Aguilar P, Posada-de-la-Paz M, Taruscio D, Schieppati A, Iskrov G, Gulácsi L, von der Schulenburg JM, Kanavos P, Persson U, Fattore G. Social/economic costs and health-related quality of life in patients with fragile X syndrome in Europe. Eur J Health Econ ; 2016 Apr. 17 Suppl 1:43-52. http://www.ncbi.nlm.nih.gov/pubmed/54Péntek M, Gulácsi L, Brodszky V, Baji P, Boncz I, Pogány G, López-Bastida J, Linertová R, Oliva-Moreno J, Serrano-Aguilar P, Posada-de-la-Paz M, Taruscio D, Iskrov G, Schieppati A, von der Schulenburg JM, Kanavos P, Chevreul K, Persson U, Fattore G. Social/economic costs and health-related quality of life of mucopolysaccharidosis patients and their caregivers in Europe. Eur J Health Econ ; 2016 Apr. 17 Suppl 1:89-98. http://www.ncbi.nlm.nih.gov/pubmed/27062257Chevreul K, Michel M, Brigham KB, López-Bastida J, Linertová R, Oliva-Moreno J, Serrano-Aguilar P, Posada-de-la-Paz M, Taruscio D, Schieppati A, Iskrov G, Péntek M, von der Schulenburg JM, Kanavos P, Persson U, Fattore G. Social/economic costs and health-related quality of life in patients with cystic fibrosis in Europe. Eur J Health Econ ; 2016 Apr. 17 Suppl 1:7-18. http://www.ncbi.nlm.nih.gov/pubmed/27059622Cavazza M, Kodra Y, Armeni P, De Santis M, López-Bastida J, Linertová R, Oliva-Moreno J, Serrano-Aguilar P, Posada-de-la-Paz M, Taruscio D, Schieppati A, Iskrov G, Gulácsi L, von der Schulenburg JM, Kanavos P, Chevreul K, Persson U, Fattore G. Social/economic costs and quality of life in patients with haemophilia in Europe. Eur J Health Econ ; 2016 Apr. 17 Suppl 1:53-65. http://www.ncbi.nlm.nih.gov/pubmed/27048374Iskrov G, Astigarraga I, Stefanov R, López-Bastida J, Linertová R, Oliva-Moreno J, Serrano-Aguilar P, Posada-de-la-Paz M, Schieppati A, Taruscio D, Péntek M, von der Schulenburg JM, Kanavos P, Chevreul K, Persson U, Fattore G. Social/economic costs and health-related quality of life in patients with histiocytosis in Europe. Eur J Health Econ ; 2016 Apr. 17 Suppl 1:67-78. http://www.ncbi.nlm.nih.gov/pubmed/27042831López-Bastida J, Linertová R, Oliva-Moreno J, Posada-de-la-Paz M, Serrano-Aguilar P, Kanavos P, Taruscio D, Schieppati A, Iskrov G, Baji P, Delgado C, von der Schulenburg JM, Persson U, Chevreul K, Fattore G. Social/economic costs and health-related quality of life in patients with Prader-Willi syndrome in Europe. Eur J Health Econ ; 2016 Apr. 17 Suppl 1:99-108. http://www.ncbi.nlm.nih.gov/pubmed/27038627López-Bastida J, Linertová R, Oliva-Moreno J, Serrano-Aguilar P, Posada-de-la-Paz M, Kanavos P, Taruscio D, Schieppati A, Iskrov G, Péntek M, Delgado C, von der Schulenburg JM, Persson U, Chevreul K, Fattore G. Social/economic costs and health-related quality of life in patients with scleroderma in Europe. Eur J Health Econ ; 2016 Apr. 17 Suppl 1:109-17. http://www.ncbi.nlm.nih.gov/pubmed/27038626Cavazza M, Kodra Y, Armeni P, De Santis M, López-Bastida J, Linertová R, Oliva-Moreno J, Serrano-Aguilar P, Posada-de-la-Paz M, Taruscio D, Schieppati A, Iskrov G, Péntek M, von der Schulenburg JM, Kanavos P, Chevreul K, Persson U, Fattore G. Social/economic costs and health-related quality of life in patients with Duchenne muscular dystrophy in Europe. Eur J Health Econ ; 2016 Apr. 17 Suppl 1:19-29. http://www.ncbi.nlm.nih.gov/pubmed/27038625Gainotti S, Turner C, Woods S, Kole A, McCormack P, Lochmüller H, Riess O, Straub V, Posada M, Taruscio D, Mascalzoni D. 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. http://www.ncbi.nlm.nih.gov/pubmed/26860059Sánchez-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. Monitoring Huntington's Disease Mortality across a 30-Year Period: Geographic and Temporal Patterns. Neuroepidemiology ; 2016. 47(3-4):155-163. http://www.ncbi.nlm.nih.gov/pubmed/27883994Hansson MG, Lochmüller H, Riess O, Schaefer F, Orth M, Rubinstein Y, Molster C, Dawkins H, Taruscio D, Posada M, Woods S. The risk of re-identification versus the need to identify individuals in rare disease research. 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