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Page 1
Biobanking in rare disorders.
Lochmüller H, Schneiderat P. Lochmüller H, et al. Adv Exp Med Biol. 2010;686:105-13. doi: 10.1007/978-90-481-9485-8_7. Adv Exp Med Biol. 2010. PMID: 20824442 Review.
Biobanks are collections of biomaterials with associated data. Biobanking is an essential tool to provide access to high quality human biomaterial for fundamental and translational research. ...Networks of biobanks aim to assure common practices and quality s …
Biobanks are collections of biomaterials with associated data. Biobanking is an essential tool to provide access to high quali …
Recommendations for Improving the Quality of Rare Disease Registries.
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, Lopez E, Ambrosini A, Müller H, Reis R, Bianchi F, Rubinstein YR, Lochmüller H, Taruscio D. Kodra Y, et al. Int J Environ Res Public Health. 2018 Aug 3;15(8):1644. doi: 10.3390/ijerph15081644. Int J Environ Res Public Health. 2018. PMID: 30081484 Free PMC article.
In response to these heterogeneities, in the framework of RD-Connect, a European platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research, we report on a list of recommendations, developed by a group of experts, including me …
In response to these heterogeneities, in the framework of RD-Connect, a European platform connecting databases, registries, biobanks …
A Review of International Biobanks and Networks: Success Factors and Key Benchmarks-A 10-Year Retrospective Review.
Devereux L, Watson PH, Mes-Masson AM, Luna-Crespo F, Thomas G, Pitman H, Speirs V, Hall AG, Bollinger N, Posada M, Lochmüller H, Thorne H, Eng CB, Riegman PHJ, Ng W, Parry-Jones A. Devereux L, et al. Biopreserv Biobank. 2019 Dec;17(6):512-519. doi: 10.1089/bio.2019.29060.djc.SI. Epub 2019 Dec 2. Biopreserv Biobank. 2019. PMID: 31794678 Review. No abstract available.
RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research.
Thompson 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. Thompson R, et al. J Gen Intern Med. 2014 Aug;29 Suppl 3(Suppl 3):S780-7. doi: 10.1007/s11606-014-2908-8. J Gen Intern Med. 2014. PMID: 25029978 Free PMC article. Review.
Data access and authorization procedures are required to allow researchers in multiple institutions to securely compare results and gain new insights. Funded by the European Union's Seventh Framework Programme under the International Rare Diseases Research Consortium (IRDi …
Data access and authorization procedures are required to allow researchers in multiple institutions to securely compare results and gain new …
International Charter of principles for sharing bio-specimens and data.
Mascalzoni D, Dove ES, Rubinstein Y, Dawkins HJ, Kole A, McCormack P, Woods S, Riess O, Schaefer F, Lochmüller H, Knoppers BM, Hansson M. Mascalzoni D, et al. Eur J Hum Genet. 2015 Jun;23(6):721-8. doi: 10.1038/ejhg.2014.197. Epub 2014 Sep 24. Eur J Hum Genet. 2015. PMID: 25248399 Free PMC article.
There is a growing international agreement on the need to provide greater access to research data and bio-specimen collections to optimize their long-term value and exploit their potential for health discovery and validation. This is especially evident for rare disease res …
There is a growing international agreement on the need to provide greater access to research data and bio-specimen collections to opt …
The role of biobanking in rare diseases: European consensus expert group report.
Lochmüller H, Aymé S, Pampinella F, Melegh B, Kuhn KA, Antonarakis SE, Meitinger T. Lochmüller H, et al. Biopreserv Biobank. 2009 Sep;7(3):155-6. doi: 10.1089/bio.2010.7302. Biopreserv Biobank. 2009. PMID: 24835882
Biobanking is of high importance for research in rare diseases. There are >6,000 rare diseases with at least 30 million people affected in the European Union (EU). ...This article gives recommendations related to rare disease biobanking reflecting consensus of an …
Biobanking is of high importance for research in rare diseases. There are >6,000 rare diseases with at least 30 million people aff …
Tracking disease progression non-invasively in Duchenne and Becker muscular dystrophies.
Spitali P, Hettne K, Tsonaka R, Charrout M, van den Bergen J, Koeks Z, Kan HE, Hooijmans MT, Roos A, Straub V, Muntoni F, Al-Khalili-Szigyarto C, Koel-Simmelink MJA, Teunissen CE, Lochmüller H, Niks EH, Aartsma-Rus A. Spitali P, et al. J Cachexia Sarcopenia Muscle. 2018 Aug;9(4):715-726. doi: 10.1002/jcsm.12304. Epub 2018 Apr 16. J Cachexia Sarcopenia Muscle. 2018. PMID: 29682908 Free PMC article.
Clinical presentation and proteomic signature of patients with TANGO2 mutations.
Mingirulli N, Pyle A, Hathazi D, Alston CL, Kohlschmidt N, O'Grady G, Waddell L, Evesson F, Cooper SBT, Turner C, Duff J, Topf A, Yubero D, Jou C, Nascimento A, Ortez C, García-Cazorla A, Gross C, O'Callaghan M, Santra S, Preece MA, Champion M, Korenev S, Chronopoulou E, Anirban M, Pierre G, McArthur D, Thompson K, Navas P, Ribes A, Tort F, Schlüter A, Pujol A, Montero R, Sarquella G, Lochmüller H, Jiménez-Mallebrera C, Taylor RW, Artuch R, Kirschner J, Grünert SC, Roos A, Horvath R. Mingirulli N, et al. J Inherit Metab Dis. 2020 Mar;43(2):297-308. doi: 10.1002/jimd.12156. Epub 2019 Aug 13. J Inherit Metab Dis. 2020. PMID: 31339582 Free PMC article.
The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers.
Gainotti S, Torreri P, Wang CM, Reihs R, Mueller H, Heslop E, Roos M, Badowska DM, de Paulis F, Kodra Y, Carta C, Martìn EL, Miller VR, Filocamo M, Mora M, Thompson M, Rubinstein Y, Posada de la Paz M, Monaco L, Lochmüller H, Taruscio D. Gainotti S, et al. Eur J Hum Genet. 2018 May;26(5):631-643. doi: 10.1038/s41431-017-0085-z. Epub 2018 Feb 2. Eur J Hum Genet. 2018. PMID: 29396563 Free PMC article.
Here, we present RD-Connect Registry & Biobank Finder, a tool that helps RD researchers to find RD biobanks and registries and provide information on the availability and accessibility of content in each database. ...The finder is also a portal to other RD-Conne …
Here, we present RD-Connect Registry & Biobank Finder, a tool that helps RD researchers to find RD biobanks and registries …
"Be an ambassador for change that you would like to see": a call to action to all stakeholders for co-creation in healthcare and medical research to improve quality of life of people with a neuromuscular disease.
Ambrosini A, Quinlivan R, Sansone VA, Meijer I, Schrijvers G, Tibben A, Padberg G, de Wit M, Sterrenburg E, Mejat A, Breukel A, Rataj M, Lochmüller H, Willmann R; 235th ENMC workshop study group. Ambrosini A, et al. Orphanet J Rare Dis. 2019 Jun 7;14(1):126. doi: 10.1186/s13023-019-1103-8. Orphanet J Rare Dis. 2019. PMID: 31174585 Free PMC article.
The first set of issues concerned the quality of life at specific phases of a patient's life, such as at the time of diagnosis or during pediatric to adult transition, and patient involvement in medical research on activities in daily living including patient reported outc …
The first set of issues concerned the quality of life at specific phases of a patient's life, such as at the time of diagnosis or dur …
17 results