Authors:
Sternberg, D
Maisonobe, T
Jurkat-Rott, K
Nicole, S
Launay, E
Chauveau, D
Tabti, N
Lehmann-Horn, F
Hainque, B
Fontaine, B
Citation: D. Sternberg et al., Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 inthe muscle sodium channel gene SCN4A, BRAIN, 124, 2001, pp. 1091-1099
Authors:
Nicole, S
Davoine, CS
Topaloglu, H
Cattolico, L
Barral, D
Beighton, P
Ben Hamida, C
Hammouda, H
Cruaud, C
White, PS
Samson, D
Urtizberea, JA
Lehmann-Horn, F
Weissenbach, J
Hentati, F
Fontaine, B
Citation: S. Nicole et al., Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia), NAT GENET, 26(4), 2000, pp. 480-483
Authors:
Jurkat-Rott, K
Mitrovic, N
Hang, C
Kouzmekine, A
Iaizzo, P
Herzog, J
Lerche, H
Nicole, S
Vale-Santos, J
Chauveau, D
Fontaine, B
Lehmann-Horn, F
Citation: K. Jurkat-rott et al., Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current (vol 97, pg 9549, 2000), P NAS US, 97(21), 2000, pp. 11673-11673
Authors:
Jurkat-Rott, K
Mitrovic, N
Hang, C
Kouzmekine, A
Iaizzo, P
Herzog, J
Lerche, H
Nicole, S
Vale-Santos, J
Chauveau, D
Fontaine, B
Lehmann-Horn, F
Citation: K. Jurkat-rott et al., Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current, P NAS US, 97(17), 2000, pp. 9549-9554
Authors:
Nicole, S
White, PS
Topaloglu, H
Beigthon, P
Salih, M
Hentati, F
Fontaine, B
Citation: S. Nicole et al., The human CDC42 gene: genomic organization, evidence for the existence of a putative pseudogene and exclusion as a SJS1 candidate gene, HUM GENET, 105(1-2), 1999, pp. 98-103