Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor...

Por Monnier, N, Procaccio, V, Stieglitz, P, Lunardi, J
Publicado em 1997

A novel 3600+11.5 kb C>G homozygous splicing mutation in a black African, consanguineous CF family

Por MONNIER, N., GOUT, J., PIN, I., GAUTHIER, G., LUNARDI, J.
Publicado em 2001

Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene.

Por Satre, V, Monnier, N, Berthoin, F, Ayuso, C, Joannard, A, Jouk, P S, Lopez-Pajares, I, Megabarne, A, Philippe, H J, Plauchu, H, Torres, M L, Lunardi, J
Publicado em 1999

Hypokalemic Periodic Paralysis and the Dihydropyridine Receptor (CACNLIA3): Genotype/Phenotype Correlations for two Predominant Mutations and Evidence for the Absence of a Founder...

Por Elbaz, A., Vale-Santos, J., Jurkat-Rott, K., Lapie, P., Ophoff, R. A., Bady, B., Links, T. P., Piussan, C., Vila, A., Monnier, N., Padberg, G. W., Abe, K., Feingold, N., Guimaraes, J., Wintzen, A. R., van der Hoeven, J. H., Saudubray, J. M., Grunfeld, J. P., Lenoir, G., Nivet, H., Echenne, B., Frants, R. R., Fardeau, M., Lehmann-Horn, F., Fontaine, B.
Publicado em 1995