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:
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:
Merlini, L
Kaplan, JC
Navarro, C
Barois, A
Bonneau, D
Brasa, J
Echenne, B
Gallano, P
Jarre, L
Jeanpierre, M
Kalaydjieva, L
Leturcq, F
Levi-Gomes, A
Toutain, A
Tournev, I
Urtizberea, A
Vallat, JM
Voit, T
Warter, JM
Citation: L. Merlini et al., Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutation, NEUROLOGY, 54(5), 2000, pp. 1075-1079