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Page 1
Upper limb evaluation and one-year follow up of non-ambulant patients with spinal muscular atrophy: an observational multicenter trial.
Seferian AM, Moraux A, Canal A, Decostre V, Diebate O, Le Moing AG, Gidaro T, Deconinck N, Van Parys F, Vereecke W, Wittevrongel S, Annoussamy M, Mayer M, Maincent K, Cuisset JM, Tiffreau V, Denis S, Jousten V, Quijano-Roy S, Voit T, Hogrel JY, Servais L. Seferian AM, et al. Among authors: maincent k. PLoS One. 2015 Apr 10;10(4):e0121799. doi: 10.1371/journal.pone.0121799. eCollection 2015. PLoS One. 2015. PMID: 25861036 Free PMC article. Clinical Trial.
Innovative methods to assess upper limb strength and function in non-ambulant Duchenne patients.
Servais L, Deconinck N, Moraux A, Benali M, Canal A, Van Parys F, Vereecke W, Wittevrongel S, Mayer M, Desguerre I, Maincent K, Themar-Noel C, Quijano-Roy S, Serari N, Voit T, Hogrel JY. Servais L, et al. Among authors: maincent k. Neuromuscul Disord. 2013 Feb;23(2):139-48. doi: 10.1016/j.nmd.2012.10.022. Epub 2012 Dec 5. Neuromuscul Disord. 2013. PMID: 23219352
Upper limb strength and function changes during a one-year follow-up in non-ambulant patients with Duchenne Muscular Dystrophy: an observational multicenter trial.
Seferian AM, Moraux A, Annoussamy M, Canal A, Decostre V, Diebate O, Le Moing AG, Gidaro T, Deconinck N, Van Parys F, Vereecke W, Wittevrongel S, Mayer M, Maincent K, Desguerre I, Thémar-Noël C, Cuisset JM, Tiffreau V, Denis S, Jousten V, Quijano-Roy S, Voit T, Hogrel JY, Servais L. Seferian AM, et al. Among authors: maincent k. PLoS One. 2015 Feb 2;10(2):e0113999. doi: 10.1371/journal.pone.0113999. eCollection 2015. PLoS One. 2015. PMID: 25643053 Free PMC article. Clinical Trial.
Nocturnal hypoxaemia and hypercapnia in children with neuromuscular disorders.
Bersanini C, Khirani S, Ramirez A, Lofaso F, Aubertin G, Beydon N, Mayer M, Maincent K, Boulé M, Fauroux B. Bersanini C, et al. Among authors: maincent k. Eur Respir J. 2012 May;39(5):1206-12. doi: 10.1183/09031936.00087511. Epub 2011 Dec 1. Eur Respir J. 2012. PMID: 22135279 Free article.
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: maincent k. Ann Neurol. 2010 Oct;68(4):511-20. doi: 10.1002/ana.22087. Ann Neurol. 2010. PMID: 20976770
Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.
Miguet M, Faivre L, Amiel J, Nizon M, Touraine R, Prieur F, Pasquier L, Lefebvre M, Thevenon J, Dubourg C, Julia S, Sarret C, Remerand G, Francannet C, Laffargue F, Boespflug-Tanguy O, David A, Isidor B, Vigneron J, Leheup B, Lambert L, Philippe C, Béri-Dexheimer M, Cuisset JM, Andrieux J, Plessis G, Toutain A, Guibaud L, Cormier-Daire V, Rio M, Bonnefont JP, Echenne B, Journel H, Burglen L, Chantot-Bastaraud S, Bienvenu T, Baumann C, Perrin L, Drunat S, Jouk PS, Dieterich K, Devillard F, Lacombe D, Philip N, Sigaudy S, Moncla A, Missirian C, Badens C, Perreton N, Thauvin-Robinet C, AChro-Puce R, Pedespan JM, Rooryck C, Goizet C, Vincent-Delorme C, Duban-Bedu B, Bahi-Buisson N, Afenjar A, Maincent K, Héron D, Alessandri JL, Martin-Coignard D, Lesca G, Rossi M, Raynaud M, Callier P, Mosca-Boidron AL, Marle N, Coutton C, Satre V, Caignec CL, Malan V, Romana S, Keren B, Tabet AC, Kremer V, Scheidecker S, Vigouroux A, Lackmy-Port-Lis M, Sanlaville D, Till M, Carneiro M, Gilbert-Dussardier B, Willems M, Van Esch H, Portes VD, El Chehadeh S. Miguet M, et al. Among authors: maincent k. J Med Genet. 2018 Jun;55(6):359-371. doi: 10.1136/jmedgenet-2017-104956. Epub 2018 Apr 4. J Med Genet. 2018. PMID: 29618507 Free article.
Congenital immobility and stiffness related to biallelic ATAD1 variants.
Bunod R, Doummar D, Whalen S, Keren B, Chantot-Bastaraud S, Maincent K, Villy MC, Mayer M, Rodriguez D, Burglen L, Léger PL, Kieffer F, Martin I, Héron D, Buratti J, Isapof A, Afenjar A, Billette de Villemeur T, Mignot C. Bunod R, et al. Among authors: maincent k. Neurol Genet. 2020 Sep 24;6(6):e520. doi: 10.1212/NXG.0000000000000520. eCollection 2020 Dec. Neurol Genet. 2020. PMID: 33134516 Free PMC article.
Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age.
Mercier S, Toutain A, Toussaint A, Raynaud M, de Barace C, Marcorelles P, Pasquier L, Blayau M, Espil C, Parent P, Journel H, Lazaro L, Andoni Urtizberea J, Moerman A, Faivre L, Eymard B, Maincent K, Gherardi R, Chaigne D, Ben Yaou R, Leturcq F, Chelly J, Desguerre I. Mercier S, et al. Among authors: maincent k. Eur J Hum Genet. 2013 Aug;21(8):855-63. doi: 10.1038/ejhg.2012.269. Epub 2013 Jan 9. Eur J Hum Genet. 2013. PMID: 23299919 Free PMC article.
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