Gartioux C - Search Results

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

2

Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy.

Giusti B, Lucarini L, Pietroni V, Lucioli S, Bandinelli B, Sabatelli P, Squarzoni S, Petrini S, Gartioux C, Talim B, Roelens F, Merlini L, Topaloglu H, Bertini E, Guicheney P, Pepe G. Giusti B, et al. Among authors: gartioux c. Ann Neurol. 2005 Sep;58(3):400-10. doi: 10.1002/ana.20586. Ann Neurol. 2005. PMID: 16130093

3

COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy.

Pepe G, Lucarini L, Zhang RZ, Pan TC, Giusti B, Quijano-Roy S, Gartioux C, Bushby KM, Guicheney P, Chu ML. Pepe G, et al. Among authors: gartioux c. Ann Neurol. 2006 Jan;59(1):190-5. doi: 10.1002/ana.20705. Ann Neurol. 2006. PMID: 16278855

4

A single homozygous point mutation in a 3'untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathy.

Allamand V, Richard P, Lescure A, Ledeuil C, Desjardin D, Petit N, Gartioux C, Ferreiro A, Krol A, Pellegrini N, Urtizberea JA, Guicheney P. Allamand V, et al. Among authors: gartioux c. EMBO Rep. 2006 Apr;7(4):450-4. doi: 10.1038/sj.embor.7400648. Epub 2006 Feb 24. EMBO Rep. 2006. PMID: 16498447 Free PMC article.

5

Ex vivo correction of selenoprotein N deficiency in rigid spine muscular dystrophy caused by a mutation in the selenocysteine codon.

Rederstorff M, Allamand V, Guicheney P, Gartioux C, Richard P, Chaigne D, Krol A, Lescure A. Rederstorff M, et al. Among authors: gartioux c. Nucleic Acids Res. 2008 Jan;36(1):237-44. doi: 10.1093/nar/gkm1033. Epub 2007 Nov 19. Nucleic Acids Res. 2008. PMID: 18025044 Free PMC article.

6

Drug-induced readthrough of premature stop codons leads to the stabilization of laminin alpha2 chain mRNA in CMD myotubes.

Allamand V, Bidou L, Arakawa M, Floquet C, Shiozuka M, Paturneau-Jouas M, Gartioux C, Butler-Browne GS, Mouly V, Rousset JP, Matsuda R, Ikeda D, Guicheney P. Allamand V, et al. Among authors: gartioux c. J Gene Med. 2008 Feb;10(2):217-24. doi: 10.1002/jgm.1140. J Gene Med. 2008. PMID: 18074402

7

Selenoprotein N is dynamically expressed during mouse development and detected early in muscle precursors.

Castets P, Maugenre S, Gartioux C, Rederstorff M, Krol A, Lescure A, Tajbakhsh S, Allamand V, Guicheney P. Castets P, et al. Among authors: gartioux c. BMC Dev Biol. 2009 Aug 22;9:46. doi: 10.1186/1471-213X-9-46. BMC Dev Biol. 2009. PMID: 19698141 Free PMC article.

8

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

9

Ullrich Congenital Muscular Dystrophy (UCMD): Clinical and Genetic Correlations.

Bozorgmehr B, Kariminejad A, Nafissi S, Jebelli B, Andoni U, Gartioux C, Ledeuil C, Allamand V, Richard P, Kariminejad MH. Bozorgmehr B, et al. Among authors: gartioux c. Iran J Child Neurol. 2013 Summer;7(3):15-22. Iran J Child Neurol. 2013. PMID: 24665301 Free PMC article.

10

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

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