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Did you mean raffaele bernard (149 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.
Type 1 FSHD with 6-10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention.
Salort-Campana E, Fatehi F, Beloribi-Djefaflia S, Roche S, Nguyen K, Bernard R, Cintas P, Solé G, Bouhour F, Ollagnon E, Sacconi S, Echaniz-Laguna A, Kuntzer T, Levy N, Magdinier F, Attarian S. Salort-Campana E, et al. Among authors: bernard r. Int J Mol Sci. 2020 Mar 23;21(6):2221. doi: 10.3390/ijms21062221. Int J Mol Sci. 2020. PMID: 32210100 Free PMC article.
Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism.
Roche S, Dion C, Broucqsault N, Laberthonnière C, Gaillard MC, Robin JD, Lagarde A, Puppo F, Vovan C, Chaix C, Campana ES, Attarian S, Bartoli M, Bernard R, Nguyen K, Magdinier F. Roche S, et al. Among authors: bernard r. Neurol Genet. 2019 Nov 14;5(6):e372. doi: 10.1212/NXG.0000000000000372. eCollection 2019 Dec. Neurol Genet. 2019. PMID: 31872053 Free PMC article.
Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy.
Nguyen K, Broucqsault N, Chaix C, Roche S, Robin JD, Vovan C, Gerard L, Mégarbané A, Urtizberea JA, Bellance R, Barnérias C, David A, Eymard B, Fradin M, Manel V, Sacconi S, Tiffreau V, Zagnoli F, Cuisset JM, Salort-Campana E, Attarian S, Bernard R, Lévy N, Magdinier F. Nguyen K, et al. Among authors: bernard r. J Med Genet. 2019 Sep;56(9):590-601. doi: 10.1136/jmedgenet-2018-105949. Epub 2019 Apr 22. J Med Genet. 2019. PMID: 31010831
SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite.
Dion C, Roche S, Laberthonnière C, Broucqsault N, Mariot V, Xue S, Gurzau AD, Nowak A, Gordon CT, Gaillard MC, El-Yazidi C, Thomas M, Schlupp-Robaglia A, Missirian C, Malan V, Ratbi L, Sefiani A, Wollnik B, Binetruy B, Salort Campana E, Attarian S, Bernard R, Nguyen K, Amiel J, Dumonceaux J, Murphy JM, Déjardin J, Blewitt ME, Reversade B, Robin JD, Magdinier F. Dion C, et al. Among authors: bernard r. Nucleic Acids Res. 2019 Apr 8;47(6):2822-2839. doi: 10.1093/nar/gkz005. Nucleic Acids Res. 2019. PMID: 30698748 Free PMC article.
40 results