Authors:
Megarbane, A
Delague, V
Ruchoux, MM
Rizkallah, E
Maurage, CA
Viollet, L
Rouaix-Emery, N
Urtizberea, A
Citation: A. Megarbane et al., New autosomal recessive cerebellar ataxia disorder in a large inbred Lebanese family, AM J MED G, 101(2), 2001, pp. 135-141
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:
Megarbane, A
Desguerres, I
Rizkallah, E
Delague, V
Nabbout, R
Barois, A
Urtizberea, A
Citation: A. Megarbane et al., Brown-Vialetto-Van Laere syndrome in a large inbred Lebanese family: Confirmation of autosomal recessive inheritance?, AM J MED G, 92(2), 2000, pp. 117-121
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