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[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.
Limb girdle muscular dystrophy due to mutations in POMT2.
Østergaard ST, Johnson K, Stojkovic T, Krag T, De Ridder W, De Jonghe P, Baets J, Claeys KG, Fernández-Torrón R, Phillips L, Topf A, Colomer J, Nafissi S, Jamal-Omidi S, Bouchet-Seraphin C, Leturcq F, MacArthur DG, Lek M, Xu L, Nelson I, Straub V, Vissing J. Østergaard ST, et al. Among authors: bouchet seraphin c. J Neurol Neurosurg Psychiatry. 2018 May;89(5):506-512. doi: 10.1136/jnnp-2017-317018. Epub 2017 Nov 24. J Neurol Neurosurg Psychiatry. 2018. PMID: 29175898
Cortical heterotopia in LGMD2I.
Renard D, Fernandez C, Bouchet-Seraphin C, Labauge P. Renard D, et al. Among authors: bouchet seraphin c. 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.
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.
Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).
Oestergaard ST, Stojkovic T, Dahlqvist JR, Bouchet-Seraphin C, Nectoux J, Leturcq F, Cossée M, Solé G, Thomsen C, Krag TO, Vissing J. Oestergaard ST, et al. Among authors: bouchet seraphin c. Neurol Genet. 2016 Oct 11;2(6):e112. doi: 10.1212/NXG.0000000000000112. eCollection 2016 Dec. Neurol Genet. 2016. PMID: 27766311 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
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
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. Among authors: bouchet seraphin c. 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.
13 results