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14 results

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Page 1
Intragenic rearrangements in LARGE and POMGNT1 genes in severe dystroglycanopathies.
Vuillaumier-Barrot S, Bouchet-Seraphin C, Chelbi M, Eude-Caye A, Charluteau E, Besson C, Quentin S, Devisme L, Le Bizec C, Landrieu P, Goldenberg A, Maincent K, Loget P, Boute O, Gilbert-Dussardier B, Encha-Razavi F, Gonzales M, Grandchamp B, Seta N. Vuillaumier-Barrot S, et al. Neuromuscul Disord. 2011 Nov;21(11):782-90. doi: 10.1016/j.nmd.2011.06.001. Epub 2011 Jul 2. Neuromuscul Disord. 2011. PMID: 21727005
[Genes of alpha-dystroglycanopathies in 2016].
Bouchet-Séraphin C, Chelbi-Viallon M, Vuillaumier-Barrot S, Seta N. Bouchet-Séraphin C, et al. Med Sci (Paris). 2016 Nov;32 Hors série n°2:40-45. doi: 10.1051/medsci/201632s210. Epub 2016 Nov 21. Med Sci (Paris). 2016. PMID: 27869076 Free article. French. No abstract available.
Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype.
Vuillaumier-Barrot S, Quijano-Roy S, Bouchet-Seraphin C, Maugenre S, Peudenier S, Van den Bergh P, Marcorelles P, Avila-Smirnow D, Chelbi M, Romero NB, Carlier RY, Estournet B, Guicheney P, Seta N. Vuillaumier-Barrot S, et al. Neuromuscul Disord. 2009 Mar;19(3):182-8. doi: 10.1016/j.nmd.2008.12.005. Neuromuscul Disord. 2009. PMID: 19179078
Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.
Vuillaumier-Barrot S, Bouchet-Séraphin C, Chelbi M, Devisme L, Quentin S, Gazal S, Laquerrière A, Fallet-Bianco C, Loget P, Odent S, Carles D, Bazin A, Aziza J, Clemenson A, Guimiot F, Bonnière M, Monnot S, Bole-Feysot C, Bernard JP, Loeuillet L, Gonzales M, Socha K, Grandchamp B, Attié-Bitach T, Encha-Razavi F, Seta N. Vuillaumier-Barrot S, et al. Am J Hum Genet. 2012 Dec 7;91(6):1135-43. doi: 10.1016/j.ajhg.2012.10.009. Am J Hum Genet. 2012. PMID: 23217329 Free PMC article.
Dilated cardiomyopathy and limb-girdle muscular dystrophy-dystroglycanopathy due to novel pathogenic variants in the DPM3 gene.
Svahn J, Laforêt P, Vial C, Streichenberger N, Romero N, Bouchet-Séraphin C, Bruneel A, Dupré T, Seta N, Menassa R, Michel-Calemard L, Stojkovic T. Svahn J, et al. Among authors: bouchet seraphin c. Neuromuscul Disord. 2019 Jul;29(7):497-502. doi: 10.1016/j.nmd.2019.05.004. Epub 2019 May 9. Neuromuscul Disord. 2019. PMID: 31266720
A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing.
Krahn M, Biancalana V, Cerino M, Perrin A, Michel-Calemard L, Nectoux J, Leturcq F, Bouchet-Séraphin C, Acquaviva-Bourdain C, Campana-Salort E, Molon A, Urtizberea JA, Audic F, Chabrol B, Pouget J, Froissart R, Melki J, Rendu J, Petit F, Métay C, Seta N, Sternberg D, Fauré J, Cossée M. Krahn M, et al. Among authors: bouchet seraphin c. Eur J Hum Genet. 2019 Mar;27(3):349-352. doi: 10.1038/s41431-018-0305-1. Epub 2018 Dec 14. Eur J Hum Genet. 2019. PMID: 30552423 Free PMC article.
Muscular, Ocular and Brain Involvement Associated with a De Novo 11q13.2q14.1 Duplication: Contribution to the Differential Diagnosis of Muscle-Eye-Brain Congenital Muscular Dystrophy.
Villar-Quiles RN, Gomez-Garcia de la Banda M, Barois A, Bouchet-Séraphin C, Romero NB, Rio M, Quijano-Roy S, Ferreiro A. Villar-Quiles RN, et al. Among authors: bouchet seraphin c. J Neuromuscul Dis. 2020;7(1):69-76. doi: 10.3233/JND-190413. J Neuromuscul Dis. 2020. PMID: 31796684
Cortical heterotopia in LGMD2I.
Renard D, Fernandez C, Bouchet-Seraphin C, Labauge P. Renard D, et al. Neuromuscul Disord. 2012 May;22(5):443-4. doi: 10.1016/j.nmd.2011.11.005. Epub 2012 Jan 20. Neuromuscul Disord. 2012. PMID: 22264518 No abstract available.
14 results