Authors: Romero, NB De Lonlay, P Llense, S Leturcq, F Touati, G Urtizberea, JA Saudubray, JM Munnich, A Kaplan, JC Recan, D

Citation: Nb. Romero et al., Pseudo-metabolic presentation in a Duchenne muscular dystrophy symptomaticcarrier with 'de novo' duplication of dystrophin gene, NEUROMUSC D, 11(5), 2001, pp. 494-498

Authors: Villard, L des Portes, V Levy, N Louboutin, JP Recan, D Coquet, M Chabrol, B Figarella-Branger, D Chelly, J Pellissier, JF Fontes, M

Citation: L. Villard et al., Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28, EUR J HUM G, 8(2), 2000, pp. 125-129

Authors: Bonne, G Mercuri, E Muchir, A Urtizberea, A Becane, HM Recan, D Merlini, L Wehnert, M Boor, R Reuner, U Vorgerd, M Wicklein, EM Eymard, B Duboc, D Penisson-Besnier, I Cuisset, JM Ferrer, X Desguerre, I Lacombe, D Bushby, K Pollitt, C Toniolo, D Fardeau, M Schwartz, K Muntoni, F

Citation: G. Bonne et al., Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene, ANN NEUROL, 48(2), 2000, pp. 170-180

Authors: Canki-Klain, N Recan, D Milicic, D Llense, S Leturcq, F Deburgrave, N Kaplan, JC Debevec, M Zurak, N

Citation: N. Canki-klain et al., Clinical variability and molecular diagnosis in a four-generation family with X-linked Emery-Dreifuss muscular dystrophy, CROAT MED J, 41(4), 2000, pp. 389-395

Authors: Tabarin, A Achermann, JC Recan, D Bex, V Bertagna, X Christin-Maitre, S Ito, M Jameson, JL Bouchard, P

Citation: A. Tabarin et al., A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism, J CLIN INV, 105(3), 2000, pp. 321-328