Browsing by Author "Estournet, B."
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- ItemFour Caucasian patients with mutations in the fukutin gene and variable clinical phenotype(2009) Vuillaumier-Barrot, S.; Quijano-Roy, S.; Bouchet-Seraphin, C.; Maugenre, S.; Peudenier, S.; Van den Bergh, P.; Marcorelles, P.; Avila-Smirnow, D.; Chelbi, M.; Romero, N.B.; Carlier, R.Y.; Estournet, B.; Guicheney, P.; Seta, N.
- ItemThe neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis(2013) Dieterich, K.; Quijano-Roy, S.; Monnier, N.; Zhou, J.; Fauré, J.; Smirnow, D.A.; Carlier, R.; Laroche, C.; Marcorelles, P.; Mercier, S.; Mégarbané, A.; Odent, S.; Romero, N.; Sternberg, D.; Marty, I.; Estournet, B.; Jouk, P.; Melki, J.; Lunardi, J.
- ItemWhole-body muscle magnetic resonance imaging in SEPN1-related myopathy shows a homogeneous and recognizable pattern(2015) Hankiewicz, K.; Carlier, R.; Lazaro, L.; Linzoain, J.; Barnerias, C.; Gomez, D.; Avila Smirnow, Daniela; Ferreiro, A.; Estournet, B.; Guicheney, P.; Germain, D.; Richard, P.; Bulacio, S.; Mompoint, D.; Quijano-Roy, S.
- ItemWhole-Body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutations(2012) Jarraya, M.; Quijano-Roy, S.; Monnier, N.; Béhin, A.; Avila-Smirnov, D.; Romero, N.B.; Allamand, V.; Richard, P.; Barois, A.; May, A.; Estournet, B.; Mercuri, E.; Carlier, P.G.; Carlier, R.-Y.