Authors: Moghadaszadeh, B Petit, N Jaillard, C Brockington, M Roy, SQ Merlini, L Romero, N Estournet, B Desguerre, I Chaigne, D Muntoni, F Topaloglu, H Guicheney, P

Citation: B. Moghadaszadeh et al., Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome, NAT GENET, 29(1), 2001, pp. 17-18

Authors: Cheliout-Heraut, F Rubinsztajn, R Ioos, C Estournet, B

Citation: F. Cheliout-heraut et al., Prognostic value of evoked potentials and sleep recordings in the prolonged comatose state of children. Preliminary data, NEUROP CLIN, 31(5), 2001, pp. 283-292

Authors: Brockington, M Blake, DJ Prandini, P Brown, SC Torelli, S Benson, MA Ponting, CP Estournet, B Romero, NB Mercuri, E Voit, T Sewry, CA Guicheney, P Muntoni, F

Citation: M. Brockington et al., Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha 2 deficiency and abnormal glycosylation of alpha-dystroglycan, AM J HU GEN, 69(6), 2001, pp. 1198-1209

Authors: Ferreiro, A Estournet, B Chateau, D Romero, NB Laroche, C Odent, S Toutain, A Cabello, A Fontan, D dos Santos, HG Haenggeli, CA Bertini, E Urtizberea, JA Guicheney, P Fardeau, M

Citation: A. Ferreiro et al., Multi-minicore disease - Searching for boundaries: Phenotype analysis of 38 cases, ANN NEUROL, 48(5), 2000, pp. 745-757

Authors: Ravard-Goulvestre, C Boucly, C Mathieu, B Van Amerongen, G Viollet, L Estournet, B Barois, A de Mazancourt, P

Citation: C. Ravard-goulvestre et al., Allele-specific amplification for the diagnosis of autosomal recessive spinal muscular atrophy, CLIN CH L M, 37(2), 1999, pp. 133-135