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Page 1
Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7.
Ben Ammar A, Petit F, Alexandri N, Gaudon K, Bauché S, Rouche A, Gras D, Fournier E, Koenig J, Stojkovic T, Lacour A, Petiot P, Zagnoli F, Viollet L, Pellegrini N, Orlikowski D, Lazaro L, Ferrer X, Stoltenburg G, Paturneau-Jouas M, Hentati F, Fardeau M, Sternberg D, Hantaï D, Richard P, Eymard B. Ben Ammar A, et al. Among authors: pellegrini n. J Neurol. 2010 May;257(5):754-66. doi: 10.1007/s00415-009-5405-y. Epub 2009 Dec 11. J Neurol. 2010. PMID: 20012313
Core-rod myopathy caused by mutations in the nebulin gene.
Romero NB, Lehtokari VL, Quijano-Roy S, Monnier N, Claeys KG, Carlier RY, Pellegrini N, Orlikowski D, Barois A, Laing NG, Lunardi J, Fardeau M, Pelin K, Wallgren-Pettersson C. Romero NB, et al. Among authors: pellegrini n. Neurology. 2009 Oct 6;73(14):1159-61. doi: 10.1212/WNL.0b013e3181bacf45. Neurology. 2009. PMID: 19805734 No abstract available.
Right ventricular function in Steinert's disease.
Fayssoil A, Orlikowski D, Nardi O, Pellegrini N, Annane D. Fayssoil A, et al. Among authors: pellegrini n. Int J Cardiol. 2013 Jul 15;167(1):291. doi: 10.1016/j.ijcard.2012.09.203. Epub 2012 Oct 6. Int J Cardiol. 2013. PMID: 23046595 No abstract available.
Supine volume drop and diaphragmatic function in adults with Pompe disease.
Prigent H, Orlikowski D, Laforêt P, Letilly N, Falaize L, Pellegrini N, Annane D, Raphael JC, Lofaso F. Prigent H, et al. Among authors: pellegrini n. Eur Respir J. 2012 Jun;39(6):1545-6. doi: 10.1183/09031936.00169011. Eur Respir J. 2012. PMID: 22654013 Free article. No abstract available.
243 results