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Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report.
Gaillard MC, Puppo F, Roche S, Dion C, Campana ES, Mariot V, Chaix C, Vovan C, Mazaleyrat K, Tasmadjian A, Bernard R, Dumonceaux J, Attarian S, Lévy N, Nguyen K, Magdinier F, Bartoli M. Gaillard MC, et al. Among authors: magdinier f. BMC Med Genet. 2016 Sep 15;17(1):66. doi: 10.1186/s12881-016-0328-9. BMC Med Genet. 2016. PMID: 27634379 Free PMC article.
Generation of the First Human In Vitro Model for McArdle Disease Based on iPSC Technology.
Ortuño-Costela MDC, Cerrada V, Moreno-Izquierdo A, García-Consuegra I, Laberthonnière C, Delourme M, Garesse R, Arenas J, Fuster García C, García García G, Millán JM, Magdinier F, Gallardo ME. Ortuño-Costela MDC, et al. Among authors: magdinier f. Int J Mol Sci. 2022 Nov 12;23(22):13964. doi: 10.3390/ijms232213964. Int J Mol Sci. 2022. PMID: 36430443 Free PMC article.
Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy.
Broucqsault N, Morere J, Gaillard MC, Dumonceaux J, Torrents J, Salort-Campana E, Maues De Paula A, Bartoli M, Fernandez C, Chesnais AL, Ferreboeuf M, Sarda L, Dufour H, Desnuelle C, Attarian S, Levy N, Nguyen K, Magdinier F, Roche S. Broucqsault N, et al. Among authors: magdinier f. Hum Mol Genet. 2013 Oct 15;22(20):4206-14. doi: 10.1093/hmg/ddt272. Epub 2013 Jun 17. Hum Mol Genet. 2013. PMID: 23777630
Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy.
Caruso N, Herberth B, Bartoli M, Puppo F, Dumonceaux J, Zimmermann A, Denadai S, Lebossé M, Roche S, Geng L, Magdinier F, Attarian S, Bernard R, Maina F, Levy N, Helmbacher F. Caruso N, et al. Among authors: magdinier f. PLoS Genet. 2013 Jun;9(6):e1003550. doi: 10.1371/journal.pgen.1003550. Epub 2013 Jun 13. PLoS Genet. 2013. PMID: 23785297 Free PMC article.
DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles.
Ferreboeuf M, Mariot V, Bessières B, Vasiljevic A, Attié-Bitach T, Collardeau S, Morere J, Roche S, Magdinier F, Robin-Ducellier J, Rameau P, Whalen S, Desnuelle C, Sacconi S, Mouly V, Butler-Browne G, Dumonceaux J. Ferreboeuf M, et al. Among authors: magdinier f. Hum Mol Genet. 2014 Jan 1;23(1):171-81. doi: 10.1093/hmg/ddt409. Epub 2013 Aug 20. Hum Mol Genet. 2014. PMID: 23966205 Free article.
Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers.
Gaillard MC, Roche S, Dion C, Tasmadjian A, Bouget G, Salort-Campana E, Vovan C, Chaix C, Broucqsault N, Morere J, Puppo F, Bartoli M, Levy N, Bernard R, Attarian S, Nguyen K, Magdinier F. Gaillard MC, et al. Among authors: magdinier f. Neurology. 2014 Aug 19;83(8):733-42. doi: 10.1212/WNL.0000000000000708. Epub 2014 Jul 16. Neurology. 2014. PMID: 25031281
Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study.
Salort-Campana E, Nguyen K, Bernard R, Jouve E, Solé G, Nadaj-Pakleza A, Niederhauser J, Charles E, Ollagnon E, Bouhour F, Sacconi S, Echaniz-Laguna A, Desnuelle C, Tranchant C, Vial C, Magdinier F, Bartoli M, Arne-Bes MC, Ferrer X, Kuntzer T, Levy N, Pouget J, Attarian S. Salort-Campana E, et al. Among authors: magdinier f. Orphanet J Rare Dis. 2015 Jan 21;10:2. doi: 10.1186/s13023-014-0218-1. Orphanet J Rare Dis. 2015. PMID: 25603992 Free PMC article.
miRNA expression in control and FSHD fetal human muscle biopsies.
Portilho DM, Alves MR, Kratassiouk G, Roche S, Magdinier F, de Santana EC, Polesskaya A, Harel-Bellan A, Mouly V, Savino W, Butler-Browne G, Dumonceaux J. Portilho DM, et al. Among authors: magdinier f. PLoS One. 2015 Feb 18;10(2):e0116853. doi: 10.1371/journal.pone.0116853. eCollection 2015. PLoS One. 2015. PMID: 25692472 Free PMC article.
89 results