-
1
-
-
0028950531
-
Mutation in DHP receptor α 1 subunit (CACNL1A3) gene in a Dutch family with hypokalaemic periodic paralysis
-
Boerman RH, Ophoff RA, Links TP, van Eijk R, Sandkuijl LA, Elbaz A, Vale-Santos JE, Wintzen AR, van Deutekom JC, Isles DE, Fontaine B, Padberg GW, Frants RR (1995): Mutation in DHP receptor α 1 subunit (CACNL1A3) gene in a Dutch family with hypokalaemic periodic paralysis. J Med Genet 32:44-47.
-
(1995)
J Med Genet
, vol.32
, pp. 44-47
-
-
Boerman, R.H.1
Ophoff, R.A.2
Links, T.P.3
Van Eijk, R.4
Sandkuijl, L.A.5
Elbaz, A.6
Vale-Santos, J.E.7
Wintzen, A.R.8
Van Deutekom, J.C.9
Isles, D.E.10
Fontaine, B.11
Padberg, G.W.12
Frants, R.R.13
-
2
-
-
0028854326
-
Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): Genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 Caucasian families
-
Elbaz A, Vale-Santos J, Jurkat-Rott K, Lapie P, Ophoff RA, Bady B, Links TP, Piussan C, Vila A, Monnier N, Padberg GW, Abe K, Feingold N, Guimaraes J, Wintzen AR, van der Hoeven JH, Saudubray JM, Grunfeld JP, Lenoir G, Nivet H, Echenne B, Frants RR, Fardeu M, Lehmann-Horn F, Fontaine B (1995): Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): Genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 Caucasian families. Am J Hum Genet 56:374-380.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 374-380
-
-
Elbaz, A.1
Vale-Santos, J.2
Jurkat-Rott, K.3
Lapie, P.4
Ophoff, R.A.5
Bady, B.6
Links, T.P.7
Piussan, C.8
Vila, A.9
Monnier, N.10
Padberg, G.W.11
Abe, K.12
Feingold, N.13
Guimaraes, J.14
Wintzen, A.R.15
Van Der Hoeven, J.H.16
Saudubray, J.M.17
Grunfeld, J.P.18
Lenoir, G.19
Nivet, H.20
Echenne, B.21
Frants, R.R.22
Fardeu, M.23
Lehmann-Horn, F.24
Fontaine, B.25
more..
-
3
-
-
0025649547
-
Hyperkalemic periodic paralysis and the adult muscle sodium channel gene
-
Fontaine B, Khurana T, Hoffman E, Bruns G, Haines J, Trofatter J, Hanson M, Rich J, McFairlane H, McKenna Yasek D, Romano D, Gusella J, Brown R Jr (1990): Hyperkalemic periodic paralysis and the adult muscle sodium channel gene. Science 250:1000-1002.
-
(1990)
Science
, vol.250
, pp. 1000-1002
-
-
Fontaine, B.1
Khurana, T.2
Hoffman, E.3
Bruns, G.4
Haines, J.5
Trofatter, J.6
Hanson, M.7
Rich, J.8
McFairlane, H.9
McKenna Yasek, D.10
Romano, D.11
Gusella, J.12
Brown Jr., R.13
-
4
-
-
0028361074
-
Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31-32 in three European families
-
Fontaine B, Vale-Santos J, Jurkat-Rott K, Reboul J, Plassart E, Rime C-S, Elbaz A, Heine R, Guimaraes J, Weissenbach J, Baumann N, Fardeau M, Lehmann-Horn F (1994): Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31-32 in three European families. Nature Genet 6:267-272.
-
(1994)
Nature Genet
, vol.6
, pp. 267-272
-
-
Fontaine, B.1
Vale-Santos, J.2
Jurkat-Rott, K.3
Reboul, J.4
Plassart, E.5
Rime, C.-S.6
Elbaz, A.7
Heine, R.8
Guimaraes, J.9
Weissenbach, J.10
Baumann, N.11
Fardeau, M.12
Lehmann-Horn, F.13
-
6
-
-
0011809868
-
Hereditary transient muscular paralysis in Denmark. Genetic aspects of family periodic paralysis and family periodic adynamia
-
Helweg-Larsen HF, Hauge M, Sagild U (1955): Hereditary transient muscular paralysis in Denmark. Genetic aspects of family periodic paralysis and family periodic adynamia. Acta Genet 5:263-280.
-
(1955)
Acta Genet
, vol.5
, pp. 263-280
-
-
Helweg-Larsen, H.F.1
Hauge, M.2
Sagild, U.3
-
8
-
-
0027965420
-
A calcium channel mutation causing hypokalemic periodic paralysis
-
Jurkat-Rott K, Lehmann-Horn F, Elbaz A, Heine R, Gregg RG, Hogan K, Powers PA, Lapie P, Vale-Santos JE, Weissenbach J, Fontaine B (1994): A calcium channel mutation causing hypokalemic periodic paralysis. Hum Mol Genet 3:8:1415-1419.
-
(1994)
Hum Mol Genet
, vol.3
, Issue.8
, pp. 1415-1419
-
-
Jurkat-Rott, K.1
Lehmann-Horn, F.2
Elbaz, A.3
Heine, R.4
Gregg, R.G.5
Hogan, K.6
Powers, P.A.7
Lapie, P.8
Vale-Santos, J.E.9
Weissenbach, J.10
Fontaine, B.11
-
11
-
-
1842353216
-
Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants
-
Kunkel L, Smith K, Boyer S, Borgaonkar D, Wachtel S, Miller O, Breg W. Jones HJ, Rary J (1977): Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants. Proc Natl Acad Sci USA 74:1245-1249.
-
(1977)
Proc Natl Acad Sci USA
, vol.74
, pp. 1245-1249
-
-
Kunkel, L.1
Smith, K.2
Boyer, S.3
Borgaonkar, D.4
Wachtel, S.5
Miller, O.6
Breg, W.7
Jones, H.J.8
Rary, J.9
-
12
-
-
0028007559
-
Genetic heterogeneity in hypokalemic periodic paralysis (hypoPP)
-
Plassart E, Elbaz A, Vale-Santos J, Reboul J, Lapie P, Chauveau D, Jurkatt-Rott K, Guimaraes J, Saudubray J-M, Weissenbach J, Lehmann-Horn F, Fontaine B (1994a): Genetic heterogeneity in hypokalemic periodic paralysis (hypoPP). Hum Genet 94:551-556.
-
(1994)
Hum Genet
, vol.94
, pp. 551-556
-
-
Plassart, E.1
Elbaz, A.2
Vale-Santos, J.3
Reboul, J.4
Lapie, P.5
Chauveau, D.6
Jurkatt-Rott, K.7
Guimaraes, J.8
Saudubray, J.-M.9
Weissenbach, J.10
Lehmann-Horn, F.11
Fontaine, B.12
-
13
-
-
0028221445
-
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, Confavreux C, Bady B, Martin J-J, Lenoir G, Serratrice G, Fardeau M, Fontaine B (1994b): 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. Eur J Hum Genet 2:110-124.
-
(1994)
Eur J Hum Genet
, vol.2
, pp. 110-124
-
-
Plassart, E.1
Reboul, J.2
Rime, C.-S.3
Recan, D.4
Millasseau, P.5
Eymard, B.6
Pelletier, J.7
Thomas, C.8
Chapon, F.9
Desnuelle, C.10
Confavreux, C.11
Bady, B.12
Martin, J.-J.13
Lenoir, G.14
Serratrice, G.15
Fardeau, M.16
Fontaine, B.17
-
14
-
-
0025790174
-
Identification of a mutation in the gene causing hyperkalemic periodic paralysis
-
Ptácek L, George Jr A, Griggs R, Tawil R, Kallen R, Barchi R, Robertson M, Leppert M (1991): Identification of a mutation in the gene causing hyperkalemic periodic paralysis. Cell 67:1021-1027.
-
(1991)
Cell
, vol.67
, pp. 1021-1027
-
-
Ptácek, L.1
George Jr., A.2
Griggs, R.3
Tawil, R.4
Kallen, R.5
Barchi, R.6
Robertson, M.7
Leppert, M.8
-
15
-
-
0028234647
-
Dihydropyridine receptor mutations cause hypokalemic periodic paralysis
-
Ptácek LJ, Tawil R, Griggs RC, Engel AG, Layzer RB, Kwieci'nski H, McManis PG, Santiago L, Moore M, Fouad G, Bradley P, Leppert MF (1994): Dihydropyridine receptor mutations cause hypokalemic periodic paralysis. Cell 77:863-868.
-
(1994)
Cell
, vol.77
, pp. 863-868
-
-
Ptácek, L.J.1
Tawil, R.2
Griggs, R.C.3
Engel, A.G.4
Layzer, R.B.5
Kwieci'nski, H.6
McManis, P.G.7
Santiago, L.8
Moore, M.9
Fouad, G.10
Bradley, P.11
Leppert, M.F.12
-
17
-
-
33749728445
-
Clinical features of hereditary transient paralysis. Periodic adynamia and periodic paralysis
-
Sagild U, Helweg-Larsen H (1955): Clinical features of hereditary transient paralysis. Periodic adynamia and periodic paralysis. Nordisk Medicin 53:981-985.
-
(1955)
Nordisk Medicin
, vol.53
, pp. 981-985
-
-
Sagild, U.1
Helweg-Larsen, H.2
-
18
-
-
0028960841
-
Recent human germline mutation: Inference from patients with hemophilia B
-
Sommer SS (1995): Recent human germline mutation: Inference from patients with hemophilia B. TIG 11:4:141-147.
-
(1995)
TIG
, vol.11
, Issue.4
, pp. 141-147
-
-
Sommer, S.S.1
-
19
-
-
0026446099
-
A second-generation linkage map of the human genome
-
Weissenbach J, Gyapay G, Dib C, Vignal A, Morisette J, Millasseau P, Vaysseix G, Lathrop M (1992): A second-generation linkage map of the human genome. Nature 359:794-801.
-
(1992)
Nature
, vol.359
, pp. 794-801
-
-
Weissenbach, J.1
Gyapay, G.2
Dib, C.3
Vignal, A.4
Morisette, J.5
Millasseau, P.6
Vaysseix, G.7
Lathrop, M.8
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