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Page 1
Early onset collagen VI myopathies: Genetic and clinical correlations.
Briñas L, Richard P, Quijano-Roy S, Gartioux C, Ledeuil C, Lacène E, Makri S, Ferreiro A, Maugenre S, Topaloglu H, Haliloglu G, Pénisson-Besnier I, Jeannet PY, Merlini L, Navarro C, Toutain A, Chaigne D, Desguerre I, de Die-Smulders C, Dunand M, Echenne B, Eymard B, Kuntzer T, Maincent K, Mayer M, Plessis G, Rivier F, Roelens F, Stojkovic T, Taratuto AL, Lubieniecki F, Monges S, Tranchant C, Viollet L, Romero NB, Estournet B, Guicheney P, Allamand V. Briñas L, et al. Among authors: gartioux c. Ann Neurol. 2010 Oct;68(4):511-20. doi: 10.1002/ana.22087. Ann Neurol. 2010. PMID: 20976770
Compound heterozygous mutations of the TNXB gene cause primary myopathy.
Pénisson-Besnier I, Allamand V, Beurrier P, Martin L, Schalkwijk J, van Vlijmen-Willems I, Gartioux C, Malfait F, Syx D, Macchi L, Marcorelles P, Arbeille B, Croué A, De Paepe A, Dubas F. Pénisson-Besnier I, et al. Among authors: gartioux c. Neuromuscul Disord. 2013 Aug;23(8):664-9. doi: 10.1016/j.nmd.2013.04.009. Epub 2013 Jun 12. Neuromuscul Disord. 2013. PMID: 23768946
Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caused by HRAS mutation.
Bolocan A, Quijano-Roy S, Seferian AM, Baumann C, Allamand V, Richard P, Estournet B, Carlier R, Cavé H, Gartioux C, Blin N, Le Moing AG, Gidaro T, Germain DP, Fardeau M, Voit T, Servais L, Romero NB. Bolocan A, et al. Among authors: gartioux c. Neuromuscul Disord. 2014 Nov;24(11):993-8. doi: 10.1016/j.nmd.2014.06.437. Epub 2014 Jun 28. Neuromuscul Disord. 2014. PMID: 25070542
Two novel COLVI long chains in zebrafish that are essential for muscle development.
Ramanoudjame L, Rocancourt C, Lainé J, Klein A, Joassard L, Gartioux C, Fleury M, Lyphout L, Kabashi E, Ciura S, Cousin X, Allamand V. Ramanoudjame L, et al. Among authors: gartioux c. Hum Mol Genet. 2015 Dec 1;24(23):6624-39. doi: 10.1093/hmg/ddv368. Epub 2015 Sep 11. Hum Mol Genet. 2015. PMID: 26362255
Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Mildest End of the Spectrum.
Cruz S, Figueroa-Bonaparte S, Gallardo E, de Becdelièvre A, Gartioux C, Allamand V, Piñol P, Garcia MA, Jiménez-Mallebriera C, Llauger J, González-Rodríguez L, Cortes-Vicente E, Illa I, Díaz-Manera J. Cruz S, et al. Among authors: gartioux c. J Neuromuscul Dis. 2016 May 27;3(2):267-274. doi: 10.3233/JND-150135. J Neuromuscul Dis. 2016. PMID: 27854213
23 results