Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31-32 in three European families
Vale-Santos, J, Baumann, N, Fontaine, B, Jurkat-Rott, K, Plassart, E, Weissenbach, J, Fardeau, M, Guimarães, J, Heine, R, Elbaz, A, Lehmann-Horn, F, Rime, C-S, Reboul, J
Published in Nature genetics (01.03.1994)
Published in Nature genetics (01.03.1994)
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Journal Article
Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p
Hazan, J, Fontaine, B, Bruyn, R P, Lamy, C, van Deutekom, J C, Rime, C S, Dürr, A, Melki, J, Lyon-Caen, O, Agid, Y
Published in Human molecular genetics (01.09.1994)
Published in Human molecular genetics (01.09.1994)
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Periodic paralysis and voltage-gated ion channels
Fontaine, Bertrand, Lapie, Pascale, Plassart, Emmanuelle, Tabti, Nacira, Nicole, Sophie, Reboul, Jocelyne, Rime-Davoine, Claire-Sophie
Published in Kidney international (01.01.1996)
Published in Kidney international (01.01.1996)
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Mutations in the muscle sodium channel gene (SCN4A) in 13 French families with hyperkalemic periodic paralysis and paramyotonia congenita: phenotype to genotype correlations and demonstration of the predominance of two mutations
Plassart, E, Reboul, J, Rime, C S, Recan, D, Millasseau, P, Eymard, B, Pelletier, J, Thomas, C, Chapon, F, Desnuelle, C
Published in European journal of human genetics : EJHG (1994)
Published in European journal of human genetics : EJHG (1994)
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Exclusion of the candidate locus FSP1 in six families with late-onset autosomal dominant spastic paraplegia
Fontaine, Bertrand, Rime, Claire-Sophie, Hazan, Jamilé, Dürr, Alexandra, Stevanin, Giovanni, Penet, Christiane, Reboul, Jocelyne, Agid, Yves, Lyon-Caen, Olivier, Baumann, Nicole, Weissenbach, Jean, Brice, Alexis
Published in Neuromuscular disorders : NMD (1995)
Published in Neuromuscular disorders : NMD (1995)
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