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Year Number of Results
2002 1
2003 1
2004 2
2005 1
2006 3
2008 1
2009 1
2010 1
2011 2
2012 2
2015 1
2017 2
2018 1
2020 2
2021 9
2023 2
2024 1

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32 results

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Page 1
Prognosis of Right Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy.
Fayssoil A, Mansencal N, Nguyen LS, Nardi O, Yaou RB, Leturcq F, Amthor H, Wahbi K, Becane HM, Lofaso F, Prigent H, Bassez G, Behin A, Stojkovic T, Fontaine B, Duboc D, Dubourg O, Clair B, Laforet P, Annane D, Orlikowski D. Fayssoil A, et al. Among authors: yaou rb. J Am Heart Assoc. 2023 Aug 15;12(16):e027231. doi: 10.1161/JAHA.122.027231. Epub 2023 Aug 10. J Am Heart Assoc. 2023. PMID: 37581390 Free PMC article. Clinical Trial.
Clinical and genetic heterogeneity in laminopathies.
Bertrand AT, Chikhaoui K, Yaou RB, Bonne G. Bertrand AT, et al. Among authors: yaou rb. Biochem Soc Trans. 2011 Dec;39(6):1687-92. doi: 10.1042/BST20110670. Biochem Soc Trans. 2011. PMID: 22103508 Review.
An interconnected data infrastructure to support large-scale rare disease research.
Johansson LF, Laurie S, Spalding D, Gibson S, Ruvolo D, Thomas C, Piscia D, de Andrade F, Been G, Bijlsma M, Brunner H, Cimerman S, Dizjikan FY, Ellwanger K, Fernandez M, Freeberg M, van de Geijn GJ, Kanninga R, Maddi V, Mehtarizadeh M, Neerincx P, Ossowski S, Rath A, Roelofs-Prins D, Stok-Benjamins M, van der Velde KJ, Veal C, van der Vries G, Wadsley M, Warren G, Zurek B, Keane T, Graessner H, Beltran S, Swertz MA, Brookes AJ; Solve-RD consortium. Johansson LF, et al. Gigascience. 2024 Jan 2;13:giae058. doi: 10.1093/gigascience/giae058. Gigascience. 2024. PMID: 39302238 Free PMC article.
Nuclear lamins: laminopathies and their role in premature ageing.
Broers JL, Ramaekers FC, Bonne G, Yaou RB, Hutchison CJ. Broers JL, et al. Among authors: yaou rb. Physiol Rev. 2006 Jul;86(3):967-1008. doi: 10.1152/physrev.00047.2005. Physiol Rev. 2006. PMID: 16816143 Free article. Review.
FHL1 is a key player of chikungunya virus tropism and pathogenesis.
Meertens L, Hafirassou ML, Couderc T, Bonnet-Madin L, Kril V, Kümmerer BM, Labeau A, Brugier A, Simon-Loriere E, Burlaud-Gaillard J, Doyen C, Pezzi L, Goupil T, Rafasse S, Vidalain PO, Legout AB, Gueneau L, Juntas-Morales R, Yaou RB, Bonne G, de Lamballerie X, Benkirane M, Roingeard P, Delaugerre C, Lecuit M, Amara A. Meertens L, et al. Among authors: yaou rb. C R Biol. 2021 Apr 21;343(4):79-89. doi: 10.5802/crbiol.40. C R Biol. 2021. PMID: 33988325 Free article.
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases.
Zurek B, Ellwanger K, Vissers LELM, Schüle R, Synofzik M, Töpf A, de Voer RM, Laurie S, Matalonga L, Gilissen C, Ossowski S, 't Hoen PAC, Vitobello A, Schulze-Hentrich JM, Riess O, Brunner HG, Brookes AJ, Rath A, Bonne G, Gumus G, Verloes A, Hoogerbrugge N, Evangelista T, Harmuth T, Swertz M, Spalding D, Hoischen A, Beltran S, Graessner H; Solve-RD consortium. Zurek B, et al. Eur J Hum Genet. 2021 Sep;29(9):1325-1331. doi: 10.1038/s41431-021-00859-0. Epub 2021 Jun 1. Eur J Hum Genet. 2021. PMID: 34075208 Free PMC article.
Anti-HMGCR Antibody-Related Necrotizing Autoimmune Myopathy Mimicking Muscular Dystrophy.
Tard C, Tiffreau V, Jaillette E, Jouen F, Nelson I, Bonne G, Yaou RB, Romero N, Vallée L, Vermersch P, Nguyen S, Maurage CA, Cuisset JM. Tard C, et al. Among authors: yaou rb. Neuropediatrics. 2017 Dec;48(6):473-476. doi: 10.1055/s-0037-1604402. Epub 2017 Aug 4. Neuropediatrics. 2017. PMID: 28778101 No abstract available.
Solving unsolved rare neurological diseases-a Solve-RD viewpoint.
Schüle R, Timmann D, Erasmus CE, Reichbauer J, Wayand M; Solve-RD-DITF-RND; van de Warrenburg B, Schöls L, Wilke C, Bevot A, Zuchner S, Beltran S, Laurie S, Matalonga L, Graessner H, Synofzik M; Solve-RD Consortium. Schüle R, et al. Eur J Hum Genet. 2021 Sep;29(9):1332-1336. doi: 10.1038/s41431-021-00901-1. Epub 2021 May 10. Eur J Hum Genet. 2021. PMID: 33972714 Free PMC article. No abstract available.
Correction to: A guide to writing systematic reviews of rare disease treatments to generate FAIRcompliant datasets: building a Treatabolome.
Atalaia A, Thompson R, Corvo A, Carmody L, Piscia D, Matalonga L, Macaya A, Lochmuller A, Fontaine B, Zurek B, Hernandez-Ferrer C, Reinhard C, Gómez-Andrés D, Desaphy JF, Schon K, Lohmann K, Jennings MJ, Synofzik M, Riess O, Yaou RB, Evangelista T, Ratnaike T, Bros-Facer V, Gumus G, Horvath R, Chinnery P, Laurie S, Graessner H, Robinson P, Lochmuller H, Beltran S, Bonne G. Atalaia A, et al. Among authors: yaou rb. Orphanet J Rare Dis. 2021 Mar 22;16(1):145. doi: 10.1186/s13023-021-01777-6. Orphanet J Rare Dis. 2021. PMID: 33752678 Free PMC article. No abstract available.
32 results