-
2
-
-
84933468777
-
Periodic paralysis
-
Talboty J. Periodic paralysis. Medicine 1941; 20: 85-96
-
(1941)
Medicine
, vol.20
, pp. 85-96
-
-
Talboty, J.1
-
3
-
-
0030992784
-
Hypokalemic periodic paralysis: An autosomal dominant muscle disorder caused by mutations in a voltage-gated calcium channel
-
Lapie P, Lory P, Fontaine B. Hypokalemic periodic paralysis: an autosomal dominant muscle disorder caused by mutations in a voltage-gated calcium channel. Neuromuscul Disord 1997; 7: 234-240
-
(1997)
Neuromuscul Disord
, vol.7
, pp. 234-240
-
-
Lapie, P.1
Lory, P.2
Fontaine, B.3
-
4
-
-
0028361074
-
Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome lq31-32 in three European families
-
Fontaine B, Vale-Santos J, Jurkat-Rott K et al. Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome lq31-32 in three European families. Nature Genet 1994; 6: 267-272
-
(1994)
Nature Genet
, vol.6
, pp. 267-272
-
-
Fontaine, B.1
Vale-Santos, J.2
Jurkat-Rott, K.3
-
5
-
-
0028234647
-
Dihydropyridine receptor mutations cause hypokalemic periodic paralysis
-
Ptacek LJ, Tawil R, Griggs RC et al. Dihydropyridine receptor mutations cause hypokalemic periodic paralysis. Cell 1994; 77: 863-868
-
(1994)
Cell
, vol.77
, pp. 863-868
-
-
Ptacek, L.J.1
Tawil, R.2
Griggs, R.C.3
-
6
-
-
0027532167
-
1 subunit of the skeletal muscle DHP-sensitive Ca2+ channel (CACNL1A3) to chromosome lq31-q32
-
1 subunit of the skeletal muscle DHP-sensitive Ca2+ channel (CACNL1A3) to chromosome lq31-q32. Genomics 1993; 15: 107-112
-
(1993)
Genomics
, vol.15
, pp. 107-112
-
-
Gregg, R.G.1
Couch, F.2
Hogan, K.3
Powers, P.A.4
-
7
-
-
0027370976
-
Structure and function of voltage-gated ion channels
-
Catterall WA. Structure and function of voltage-gated ion channels. Trends Neurosci 1993; 16: 500-506
-
(1993)
Trends Neurosci
, vol.16
, pp. 500-506
-
-
Catterall, W.A.1
-
8
-
-
0023261936
-
Primary structure of the receptor for calcium channel blockers from skeletal muscle
-
Tanabe T, Takeshima H, Mikami A et al. Primary structure of the receptor for calcium channel blockers from skeletal muscle. Nature 1987; 328: 313-318
-
(1987)
Nature
, vol.328
, pp. 313-318
-
-
Tanabe, T.1
Takeshima, H.2
Mikami, A.3
-
9
-
-
0027965420
-
A calcium channel mutation causing hypokalemic periodic paralysis
-
Jurkat-Rott K, Lehmann-Horn F, Elbaz A et al. A calcium channel mutation causing hypokalemic periodic paralysis. Hum Mol Genet 1994; 3: 1415-1419
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1415-1419
-
-
Jurkat-Rott, K.1
Lehmann-Horn, F.2
Elbaz, A.3
-
10
-
-
0031298525
-
Mutation analysis of the CACNL1A3 gene in Japanese hypokalemic periodic paralysis families
-
Nippon Rinsho
-
Ikeda Y, Watanabe M, Shoji M. [Mutation analysis of the CACNL1A3 gene in Japanese hypokalemic periodic paralysis families]. Nippon Rinsho. Jpn J Clin Med 1997; 55: 3247-3252
-
(1997)
Jpn J Clin Med
, vol.55
, pp. 3247-3252
-
-
Ikeda, Y.1
Watanabe, M.2
Shoji, M.3
-
11
-
-
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 et al. 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 1995; 56: 374-380
-
(1995)
Am J Hum Genet
, vol.56
, pp. 374-380
-
-
Elbaz, A.1
Vale-Santos, J.2
Jurkat-Rott, K.3
-
12
-
-
0031046104
-
Identification of mutations in the CACNL1A3 gene in 13 families of scandinavian origin having hypokalemic periodic paralysis and evidence of a founder effect in Danish families
-
Sillen A, Sorensen T, Kantola I, Friis ML, Gustavson KH, Wadelius C. Identification of mutations in the CACNL1A3 gene in 13 families of Scandinavian origin having hypokalemic periodic paralysis and evidence of a founder effect in Danish families. Am J Med Genet 1997; 69: 102-106
-
(1997)
Am J Med Genet
, vol.69
, pp. 102-106
-
-
Sillen, A.1
Sorensen, T.2
Kantola, I.3
Friis, M.L.4
Gustavson, K.H.5
Wadelius, C.6
-
14
-
-
0030027611
-
Hypokalemic periodic paralysis mutations: Confirmation of mutation and analysis of founder effect
-
Grosson CL, Esteban J, McKenna-Yasek D, Gusella JF, Brown RH Jr. Hypokalemic periodic paralysis mutations: confirmation of mutation and analysis of founder effect. Neuromuscul Disord 1996; 6: 27-31
-
(1996)
Neuromuscul Disord
, vol.6
, pp. 27-31
-
-
Grosson, C.L.1
Esteban, J.2
McKenna-Yasek, D.3
Gusella, J.F.4
Brown R.H., Jr.5
-
15
-
-
0026629701
-
Strategies for characterizing highly polymorphic markers in human gene mapping
-
Ott J. Strategies for characterizing highly polymorphic markers in human gene mapping. Am J Hum Genet 1992; 51: 283-290
-
(1992)
Am J Hum Genet
, vol.51
, pp. 283-290
-
-
Ott, J.1
-
16
-
-
0028007559
-
Genetic heterogeneity in hypokalemic periodic paralysis (hypoPP)
-
Plassart E, Elbaz A, Santos JV et al. Genetic heterogeneity in hypokalemic periodic paralysis (hypoPP). Hum Genet 1994; 94: 551-556
-
(1994)
Hum Genet
, vol.94
, pp. 551-556
-
-
Plassart, E.1
Elbaz, A.2
Santos, J.V.3
-
17
-
-
0003041607
-
Diseases of muscle
-
Fauci A, Braunwald E, Isselbacher K et al., eds. McGraw-Hill, New York
-
Mendell J, Griggs R, Ptacek L. Diseases of muscle. In: Fauci A, Braunwald E, Isselbacher K et al., eds. Harrison's Principles of Internal Medicine, 14 edn, vol. 2. McGraw-Hill, New York, 1998, 2473-2483
-
(1998)
Harrison's Principles of Internal Medicine, 14 Edn
, vol.2
, pp. 2473-2483
-
-
Mendell, J.1
Griggs, R.2
Ptacek, L.3
-
18
-
-
0023853921
-
The CpG dinucleotide and human genetic disease
-
Cooper DN, Youssoufian H. The CpG dinucleotide and human genetic disease. Hum Genet 1988; 78: 151-155
-
(1988)
Hum Genet
, vol.78
, pp. 151-155
-
-
Cooper, D.N.1
Youssoufian, H.2
-
19
-
-
0028960841
-
Recent human germ-line mutation: Inferences from patients with hemophilia B
-
Sommer SS. Recent human germ-line mutation: inferences from patients with hemophilia B. Trends Genet 1995; 11: 141-147
-
(1995)
Trends Genet
, vol.11
, pp. 141-147
-
-
Sommer, S.S.1
|