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Did you mean raffaele bernard (153 results)?
Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines.
Giardina E, Camaño P, Burton-Jones S, Ravenscroft G, Henning F, Magdinier F, van der Stoep N, van der Vliet PJ, Bernard R, Tomaselli PJ, Davis MR, Nishino I, Oflazer P, Race V, Vishnu VY, Williams V, Sobreira CFR, van der Maarel SM, Moore SA, Voermans NC, Lemmers RJLF. Giardina E, et al. Among authors: bernard r. Clin Genet. 2024 Apr 29. doi: 10.1111/cge.14533. Online ahead of print. Clin Genet. 2024. PMID: 38685133 Review.
Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy.
Sanson B, Stalens C, Guien C, Villa L, Eng C, Rabarimeriarijaona S, Bernard R, Cintas P, Solé G, Tiffreau V, Echaniz-Laguna A, Magot A, Juntas Morales R, Boyer FC, Nadaj-Pakleza A, Jacquin-Piques A, Béroud C, Sacconi S; French FSHD registry collaboration group. Sanson B, et al. Among authors: bernard r. Orphanet J Rare Dis. 2022 Mar 2;17(1):96. doi: 10.1186/s13023-021-01793-6. Orphanet J Rare Dis. 2022. PMID: 35236385 Free PMC article.
Facioscapulohumeral dystrophy weakened sarcomeric contractility is mimicked in induced pluripotent stem cells-derived innervated muscle fibres.
Laberthonnière C, Novoa-Del-Toro EM, Delourme M, Chevalier R, Broucqsault N, Mazaleyrat K, Streichenberger N, Manel V, Bernard R, Salort Campana E, Attarian S, Nguyen K, Robin JD, Baudot A, Magdinier F. Laberthonnière C, et al. Among authors: bernard r. J Cachexia Sarcopenia Muscle. 2022 Feb;13(1):621-635. doi: 10.1002/jcsm.12835. Epub 2021 Dec 3. J Cachexia Sarcopenia Muscle. 2022. PMID: 34859613 Free PMC article.
Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy.
Nguyen K, Puppo F, Roche S, Gaillard MC, Chaix C, Lagarde A, Pierret M, Vovan C, Olschwang S, Salort-Campana E, Attarian S, Bartoli M, Bernard R, Magdinier F, Levy N. Nguyen K, et al. Among authors: bernard r. Hum Mutat. 2017 Oct;38(10):1432-1441. doi: 10.1002/humu.23304. Epub 2017 Aug 6. Hum Mutat. 2017. PMID: 28744936 Free article.
Lamin a truncation in Hutchinson-Gilford progeria.
De Sandre-Giovannoli A, Bernard R, Cau P, Navarro C, Amiel J, Boccaccio I, Lyonnet S, Stewart CL, Munnich A, Le Merrer M, Lévy N. De Sandre-Giovannoli A, et al. Among authors: bernard r. Science. 2003 Jun 27;300(5628):2055. doi: 10.1126/science.1084125. Epub 2003 Apr 17. Science. 2003. PMID: 12702809 No abstract available.
Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome.
Renard D, Taieb G, Garibaldi M, Maues De Paula A, Bernard R, Lagha N, Cristofari G, Vovan C, Chaix C, Lévy N, Khau Van Kien P, Sacconi S. Renard D, et al. Among authors: bernard r. Am J Med Genet A. 2018 Aug;176(8):1760-1763. doi: 10.1002/ajmg.a.38843. Epub 2018 Jul 28. Am J Med Genet A. 2018. PMID: 30055030
40 results