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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2003 2
2004 1
2005 2
2006 2
2007 2
2009 4
2010 5
2011 3
2012 3
2013 3
2014 2
2015 5
2016 2
2017 3
2018 2
2019 2
2020 5
2021 1
2022 1
2024 1

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47 results

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Page 1
RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology.
Benkirane M, Da Cunha D, Marelli C, Larrieu L, Renaud M, Varilh J, Pointaux M, Baux D, Ardouin O, Vangoethem C, Taulan M, Daumas Duport B, Bergougnoux A, Corbillé AG, Cossée M, Juntas Morales R, Tuffery-Giraud S, Koenig M, Isidor B, Vincent MC. Benkirane M, et al. Among authors: tuffery giraud s. Brain. 2022 Nov 21;145(11):3770-3775. doi: 10.1093/brain/awac280. Brain. 2022. PMID: 35883251
Association between prophylactic angiotensin-converting enzyme inhibitors and overall survival in Duchenne muscular dystrophy-analysis of registry data.
Porcher R, Desguerre I, Amthor H, Chabrol B, Audic F, Rivier F, Isapof A, Tiffreau V, Campana-Salort E, Leturcq F, Tuffery-Giraud S, Ben Yaou R, Annane D, Amédro P, Barnerias C, Bécane HM, Béhin A, Bonnet D, Bassez G, Cossée M, de La Villéon G, Delcourte C, Fayssoil A, Fontaine B, Godart F, Guillaumont S, Jaillette E, Laforêt P, Leonard-Louis S, Lofaso F, Mayer M, Morales RJ, Meune C, Orlikowski D, Ovaert C, Prigent H, Saadi M, Sochala M, Tard C, Vaksmann G, Walther-Louvier U, Eymard B, Stojkovic T, Ravaud P, Duboc D, Wahbi K. Porcher R, et al. Among authors: tuffery giraud s. Eur Heart J. 2021 May 21;42(20):1976-1984. doi: 10.1093/eurheartj/ehab054. Eur Heart J. 2021. PMID: 33748842
Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy.
Passarelli C, Selvatici R, Carrieri A, Di Raimo FR, Falzarano MS, Fortunato F, Rossi R, Straub V, Bushby K, Reza M, Zharaieva I, D'Amico A, Bertini E, Merlini L, Sabatelli P, Borgiani P, Novelli G, Messina S, Pane M, Mercuri E, Claustres M, Tuffery-Giraud S, Aartsma-Rus A, Spitali P, T'Hoen PAC, Lochmüller H, Strandberg K, Al-Khalili C, Kotelnikova E, Lebowitz M, Schwartz E, Muntoni F, Scapoli C, Ferlini A. Passarelli C, et al. Among authors: tuffery giraud s. Front Genet. 2020 Jul 3;11:605. doi: 10.3389/fgene.2020.00605. eCollection 2020. Front Genet. 2020. PMID: 32719714 Free PMC article.
EMQN best practice guidelines for genetic testing in dystrophinopathies.
Fratter C, Dalgleish R, Allen SK, Santos R, Abbs S, Tuffery-Giraud S, Ferlini A. Fratter C, et al. Among authors: tuffery giraud s. Eur J Hum Genet. 2020 Sep;28(9):1141-1159. doi: 10.1038/s41431-020-0643-7. Epub 2020 May 18. Eur J Hum Genet. 2020. PMID: 32424326 Free PMC article.
TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy.
Spitali P, Zaharieva I, Bohringer S, Hiller M, Chaouch A, Roos A, Scotton C, Claustres M, Bello L, McDonald CM, Hoffman EP; CINRG Investigators; Koeks Z, Eka Suchiman H, Cirak S, Scoto M, Reza M, 't Hoen PAC, Niks EH, Tuffery-Giraud S, Lochmüller H, Ferlini A, Muntoni F, Aartsma-Rus A. Spitali P, et al. Among authors: tuffery giraud s. Eur J Hum Genet. 2020 Jun;28(6):815-825. doi: 10.1038/s41431-019-0563-6. Epub 2020 Jan 2. Eur J Hum Genet. 2020. PMID: 31896777 Free PMC article.
Current management of Duchenne muscular dystrophy in the Middle East: expert report.
Jumah MA, Muhaizea MA, Rumayyan AA, Saman AA, Shehri AA, Cupler E, Jan M, Madani AA, Fathalla W, Kashyape P, Kodavooru G, Thihli KA, Bastaki L, Megarbane A, Skrypnyk C, Zamani G, Tuffery-Giraud S, Urtizberea A, Ortez González CI. Jumah MA, et al. Among authors: tuffery giraud s. Neurodegener Dis Manag. 2019 Jun;9(3):123-133. doi: 10.2217/nmt-2019-0002. Epub 2019 Jun 5. Neurodegener Dis Manag. 2019. PMID: 31166138 Free PMC article.
Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy.
Aartsma-Rus A, Hegde M, Ben-Omran T, Buccella F, Ferlini A, Gallano P, Howell RR, Leturcq F, Martin AS, Potulska-Chromik A, Saute JA, Schmidt WM, Sejersen T, Tuffery-Giraud S, Uyguner ZO, Witcomb LA, Yau S, Nelson SF. Aartsma-Rus A, et al. Among authors: tuffery giraud s. J Pediatr. 2019 Jan;204:305-313.e14. doi: 10.1016/j.jpeds.2018.10.043. J Pediatr. 2019. PMID: 30579468 Free article. No abstract available.
47 results