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427 results

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Page 1
Recessive TTN truncating mutations define novel forms of core myopathy with heart disease.
Chauveau C, Bonnemann CG, Julien C, Kho AL, Marks H, Talim B, Maury P, Arne-Bes MC, Uro-Coste E, Alexandrovich A, Vihola A, Schafer S, Kaufmann B, Medne L, Hübner N, Foley AR, Santi M, Udd B, Topaloglu H, Moore SA, Gotthardt M, Samuels ME, Gautel M, Ferreiro A. Chauveau C, et al. Among authors: julien c. Hum Mol Genet. 2014 Feb 15;23(4):980-91. doi: 10.1093/hmg/ddt494. Epub 2013 Oct 8. Hum Mol Genet. 2014. PMID: 24105469 Free PMC article.
The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease.
Davignon L, Chauveau C, Julien C, Dill C, Duband-Goulet I, Cabet E, Buendia B, Lilienbaum A, Rendu J, Minot MC, Guichet A, Allamand V, Vadrot N, Fauré J, Odent S, Lazaro L, Leroy JP, Marcorelles P, Dubourg O, Ferreiro A. Davignon L, et al. Among authors: julien c. Hum Mol Genet. 2016 Apr 15;25(8):1559-73. doi: 10.1093/hmg/ddw033. Epub 2016 Feb 9. Hum Mol Genet. 2016. PMID: 27008887
Genotype-phenotype correlations in recessive titinopathies.
Savarese M, Vihola A, Oates EC, Barresi R, Fiorillo C, Tasca G, Jokela M, Sarkozy A, Luo S, Díaz-Manera J, Ehrstedt C, Rojas-García R, Sáenz A, Muelas N, Lonardo F, Fodstad H, Qureshi T, Johari M, Välipakka S, Luque H, Petiot P, de Munain AL, Pane M, Mercuri E, Torella A, Nigro V, Astrea G, Santorelli FM, Bruno C, Kuntzer T, Illa I, Vílchez JJ, Julien C, Ferreiro A, Malandrini A, Zhao CB, Casar-Borota O, Davis M, Muntoni F, Hackman P, Udd B. Savarese M, et al. Among authors: julien c. Genet Med. 2020 Dec;22(12):2029-2040. doi: 10.1038/s41436-020-0914-2. Epub 2020 Aug 11. Genet Med. 2020. PMID: 32778822 Free article.
The genetic epidemiology of idiopathic scoliosis.
Gorman KF, Julien C, Moreau A. Gorman KF, et al. Among authors: julien c. Eur Spine J. 2012 Oct;21(10):1905-19. doi: 10.1007/s00586-012-2389-6. Epub 2012 Jun 14. Eur Spine J. 2012. PMID: 22695700 Free PMC article. Review.
A replication study for association of 53 single nucleotide polymorphisms in ScoliScore test with adolescent idiopathic scoliosis in French-Canadian population.
Tang QL, Julien C, Eveleigh R, Bourque G, Franco A, Labelle H, Grimard G, Parent S, Ouellet J, Mac-Thiong JM, Gorman KF, Moreau A. Tang QL, et al. Among authors: julien c. Spine (Phila Pa 1976). 2015 Apr 15;40(8):537-43. doi: 10.1097/BRS.0000000000000807. Spine (Phila Pa 1976). 2015. PMID: 25646748
427 results