-
1
-
-
0028234647
-
Dihydropyridine receptor mutations cause hypokalemic periodic paralysis
-
[1] Ptáček LJ, Tawil R, Griggs RC, et. al. Dihydropyridine receptor mutations cause hypokalemic periodic paralysis. Cell 1994;77:863-68.
-
(1994)
Cell
, vol.77
, pp. 863-868
-
-
Ptáček, L.J.1
Tawil, R.2
Griggs, R.C.3
-
3
-
-
0002571690
-
Periodic paralysis
-
Engel AG, Banker BQ, editors. NY: McGraw Hill.
-
[3] Engel AG. Periodic paralysis. In: Engel AG, Banker BQ, editors. Myology: Basic and Clinical. NY: McGraw Hill. 1986:1843-47.
-
(1986)
Myology: Basic and Clinical
, pp. 1843-1847
-
-
Engel, A.G.1
-
4
-
-
0025670279
-
Permanent muscle weakness in familial hypokalemic periodic paralysis. Clinical, radiological and pathological aspects
-
[4] Links TP, Zwarts MJ, Wilmink JT, Molenaar WM. Oosterhuis HJGH. Permanent muscle weakness in familial hypokalemic periodic paralysis. Clinical, radiological and pathological aspects. Brain 1990;113:1873-89.
-
(1990)
Brain
, vol.113
, pp. 1873-1889
-
-
Links, T.P.1
Zwarts, M.J.2
Wilmink, J.T.3
Molenaar, W.M.4
Oosterhuis, H.J.G.H.5
-
5
-
-
0028361074
-
Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31-32 in three European families
-
[5] Fontaine B, Vale-Santos J, Jurkatt-Rott K, et. al. Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31-32 in three European families. Nat Genet 1994;6:267-72.
-
(1994)
Nat Genet
, vol.6
, pp. 267-272
-
-
Fontaine, B.1
Vale-Santos, J.2
Jurkatt-Rott, K.3
-
7
-
-
0027965420
-
A calcium channel mutation causing hypokalemic periodic paralysis
-
[7] Jurkat-Rott K, Lehmann-Horn F, Elbaz A, et. al. A calcium channel mutation causing hypokalemic periodic paralysis. Hum Mol Genet 1994;3(8):1415-19.
-
(1994)
Hum Mol Genet
, vol.3
, Issue.8
, pp. 1415-1419
-
-
Jurkat-Rott, K.1
Lehmann-Horn, F.2
Elbaz, A.3
-
8
-
-
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
-
[8] 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 Gen 1995;56:374-80.
-
(1995)
Am J Hum Gen
, vol.56
, pp. 374-380
-
-
Elbaz, A.1
Vale-Santos, J.2
Jurkat-Rott, K.3
-
9
-
-
0015124692
-
Intermittent muscular weakness, extrasystoles and multiple developmental anomalies - A new syndrome?
-
[9] Andersen ED, Krasilnikoff PA, Overvad H. Intermittent muscular weakness, extrasystoles and multiple developmental anomalies - a new syndrome? Acta Paediatr Scand 1971;60:559-64.
-
(1971)
Acta Paediatr Scand
, vol.60
, pp. 559-564
-
-
Andersen, E.D.1
Krasilnikoff, P.A.2
Overvad, H.3
-
10
-
-
0028298042
-
Andersen's syndrome: Potassium-sensitive periodic paralysis, ventricular ectopia, and dysmorphic features
-
[10] Tawil R, Ptácěk LP, Pavlakis SG, et. al. Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopia, and dysmorphic features. Ann Neurol 1994;35:326-30.
-
(1994)
Ann Neurol
, vol.35
, pp. 326-330
-
-
Tawil, R.1
Ptácěk, L.P.2
Pavlakis, S.G.3
-
11
-
-
0021843546
-
Potentially fatal cardiac dysrhythmia and hyperkalemic periodic paralysis
-
[11] Gould RJ, Steeg CN, Eastwood AB, Penn AS, Lewis EP, De Vivo DC. Potentially fatal cardiac dysrhythmia and hyperkalemic periodic paralysis. Neurology 1985;35:1208-12.
-
(1985)
Neurology
, vol.35
, pp. 1208-1212
-
-
Gould, R.J.1
Steeg, C.N.2
Eastwood, A.B.3
Penn, A.S.4
Lewis, E.P.5
De Vivo, D.C.6
-
12
-
-
0028007559
-
Genetic heterogeneity in hypokalemic periodic paralysis (HypoPP)
-
[12] Plassart E, Elbaz A, Vale-Santos J et. al. Genetic heterogeneity in hypokalemic periodic paralysis (HypoPP). Hum Genet 1994;94:551-56.
-
(1994)
Hum Genet
, vol.94
, pp. 551-556
-
-
Plassart, E.1
Elbaz, A.2
Vale-Santos, J.3
-
13
-
-
0027468893
-
Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis
-
[13] Ptácěk LJ, Gouw L, Kwiecinske H. et. al. Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis. Ann Neurol 1993;33:300-07.
-
(1993)
Ann Neurol
, vol.33
, pp. 300-307
-
-
Ptácěk, L.J.1
Gouw, L.2
Kwiecinske, H.3
-
15
-
-
0030064359
-
1 subunit of the dihydropyridine-sensitive L-type calcium channel (CACNL1A3)
-
1 subunit of the dihydropyridine-sensitive L-type calcium channel (CACNL1A3). Genomics 1996;31:392-94.
-
(1996)
Genomics
, vol.31
, pp. 392-394
-
-
Hogan, K.1
Gregg, R.G.2
Powers, P.A.3
-
16
-
-
0017761179
-
Anesthetic experiences in a family with hypokalemic familial periodic paralysis
-
[16] Horton B. Anesthetic experiences in a family with hypokalemic familial periodic paralysis. Anesthesiology 1977;47:308-10.
-
(1977)
Anesthesiology
, vol.47
, pp. 308-310
-
-
Horton, B.1
-
17
-
-
0026766904
-
Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita
-
[17] Ptácěk LJ, George AL, Barchi RL, et. al. Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita. Neuron 1992;8:891-97.
-
(1992)
Neuron
, vol.8
, pp. 891-897
-
-
Ptácěk, L.J.1
George, A.L.2
Barchi, R.L.3
-
18
-
-
0022626884
-
Calcium and ischemic injury
-
[18] Cheung JY, Bonventre JV, Malis CD, Leaf A. Calcium and ischemic injury. NEJM 1986;314(26):1670-76.
-
(1986)
NEJM
, vol.314
, Issue.26
, pp. 1670-1676
-
-
Cheung, J.Y.1
Bonventre, J.V.2
Malis, C.D.3
Leaf, A.4
-
19
-
-
0014469020
-
The Sarcoplasmic reticulum in thyrotoxic hypokalemic periodic paralysis
-
[19] Schutta HS, Armitage JL. The Sarcoplasmic reticulum in thyrotoxic hypokalemic periodic paralysis. Metab Clin Exp 1969;18(2):81-83.
-
(1969)
Metab Clin Exp
, vol.18
, Issue.2
, pp. 81-83
-
-
Schutta, H.S.1
Armitage, J.L.2
-
20
-
-
0017316634
-
Mitochondrial calcium overload: A general mechanism for cell necrosis in muscle diseases
-
[20] Wrogemann K, Pena SDJ. Mitochondrial calcium overload: a general mechanism for cell necrosis in muscle diseases. Lancet 1976;1:672-74.
-
(1976)
Lancet
, vol.1
, pp. 672-674
-
-
Wrogemann, K.1
Pena, S.D.J.2
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