-
1
-
-
0033052512
-
Mutation screening of the RYR1 gene and identification of two novel mutations in Italian malignant hyperthermia families
-
Barone V, Massa O, Intravaia E, Bracco A, Di Martino A, Tegazzin V, Cozzolino S, Sorrentino V. Mutation screening of the RYR1 gene and identification of two novel mutations in Italian malignant hyperthermia families. J Med Genet 1999; 36:115-118.
-
(1999)
J Med Genet
, vol.36
, pp. 115-118
-
-
Barone, V.1
Massa, O.2
Intravaia, E.3
Bracco, A.4
Di Martino, A.5
Tegazzin, V.6
Cozzolino, S.7
Sorrentino, V.8
-
2
-
-
0032801833
-
A novel sodium channel mutation in a family with hypokalemic periodic paralysis
-
Bulman DE, Scoggan KA, van Oene M D, Nicolle MW, Hahn AF, Tollar LL, Ebers GC. A novel sodium channel mutation in a family with hypokalemic periodic paralysis. Neurology 1999;53:1932-1936.
-
(1999)
Neurology
, vol.53
, pp. 1932-1936
-
-
Bulman, D.E.1
Scoggan, K.A.2
Van Oene, M.D.3
Nicolle, M.W.4
Hahn, A.F.5
Tollar, L.L.6
Ebers, G.C.7
-
3
-
-
0024280869
-
Structure and function of the voltage-sensitive ion channels
-
Catterall WA. Structure and function of the voltage-sensitive ion channels. Science 1988;242:50-61.
-
(1988)
Science
, vol.242
, pp. 50-61
-
-
Catterall, W.A.1
-
5
-
-
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, Fardeau M, Lehmann-Horn F, Fontaine B. 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
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
Fardeau, M.23
Lehmann-Horn, F.24
Fontaine, B.25
more..
-
6
-
-
0028361074
-
Mapping of the hypokalemic 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 CS, Elbaz A, Heine R, Guimaraes J, Weissenbach J, Baumann N, Fardeau M, Lehmann-Horn F. Mapping of the hypokalemic periodic paralysis (HypoPP) locus to chromosome 1q31-32 in three European families. Nat Genet 1994;6:267-272.
-
(1994)
Nat 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
-
7
-
-
0030970835
-
Genotype-phenotype correlations of DHP-receptor alpha 1-subunit gene mutations causing hypokalemic periodic paralysis
-
Fouad G, Dalakas M, Servisei S, Mendell JR, Van den Bergh P, Angelini, C, Alderson K, Griggs RC, Tawil R, Gregg R, Hogan K, Powers PA, Weinberg N, Malonee W, Ptacek LJ. Genotype-phenotype correlations of DHP-receptor alpha 1-subunit gene mutations causing hypokalemic periodic paralysis. Neuromuscul Disord 1997;7:33-38.
-
(1997)
Neuromuscul Disord
, vol.7
, pp. 33-38
-
-
Fouad, G.1
Dalakas, M.2
Servisei, S.3
Mendell, J.R.4
Van den Bergh, P.5
Angelini, C.6
Alderson, K.7
Griggs, R.C.8
Tawil, R.9
Gregg, R.10
Hogan, K.11
Powers, P.A.12
Weinberg, N.13
Malonee, W.14
Ptacek, L.J.15
-
8
-
-
0030064359
-
The structure of the gene encoding the human skeletal muscle alpha-1 subunit of the dihydropyridine-sensitive L-type calcium channel (CACNL1A3)
-
Hogan K, Gregg R G, Powers PA. The structure of the gene encoding the human skeletal muscle alpha-1 subunit of the dihydropyridine-sensitive L-type calcium channel (CACNL1A3). Genomics 1996;31:392-394.
-
(1996)
Genomics
, vol.31
, pp. 392-394
-
-
Hogan, K.1
Gregg, R.G.2
Powers, P.A.3
-
9
-
-
0017761179
-
Anesthetic experiences in a family with hypokalemic familial periodic paralysis
-
Horton B. Anesthetic experiences in a family with hypokalemic familial periodic paralysis. Anesthesiology 1977;47:308-310.
-
(1977)
Anesthesiology
, vol.47
, pp. 308-310
-
-
Horton, B.1
-
10
-
-
0027965420
-
A calcium channel mutation causing hypokalemic periodic paralysis
-
Jurkat-Rott K, Lehmann-Horn F, Elbaz A, Heine R, Gregg RG, Hogan K, Powers P A, Lapie, P, Vale-Santos JE, Weissenbach J, Fontaine B. A calcium channel mutation causing hypokalemic periodic paralysis. Hum Molec Genet 1994;3:1415-1419.
-
(1994)
Hum Molec Genet
, vol.3
, 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
-
-
0040565182
-
Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current
-
Jurkat-Rott K, Mitrovic N, Hang C, Kouzmekine A, Iaizzo P, Herzog J, Lerc H, Nicole S, Vale-Santos J, Chauveau D, Fontaine B, Lehmann-Horne F. Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current. Proc Natl Acad Sci USA 2000;97:9549-9554.
-
(2000)
Proc Natl Acad Sci USA
, vol.97
, pp. 9549-9554
-
-
Jurkat-Rott, K.1
Mitrovic, N.2
Hang, C.3
Kouzmekine, A.4
Iaizzo, P.5
Herzog, J.6
Lerc, H.7
Nicole, S.8
Vale-Santos, J.9
Chauveau, D.10
Fontaine, B.11
Lehmann-Horne, F.12
-
12
-
-
0018387902
-
Cardiac dysfunction in a patient with familial hypokalemic periodic paralysis
-
Kramer LD, Cole JP, Messenger JC, Ellestad MH. Cardiac dysfunction in a patient with familial hypokalemic periodic paralysis. Chest 1979;75:189-192.
-
(1979)
Chest
, vol.75
, pp. 189-192
-
-
Kramer, L.D.1
Cole, J.P.2
Messenger, J.C.3
Ellestad, M.H.4
-
13
-
-
0028077763
-
Malignant hyperthermia in a patient with hypokalemic periodic paralysis
-
Lambert C, Blanloeil Y, Krisovic Horber R, Berard L, Reyford H, Pinaud M. Malignant hyperthermia in a patient with hypokalemic periodic paralysis. Anesth Analg 1994;79:1012-1014.
-
(1994)
Anesth Analg
, vol.79
, pp. 1012-1014
-
-
Lambert, C.1
Blanloeil, Y.2
Krisovic Horber, R.3
Berard, L.4
Reyford, H.5
Pinaud, M.6
-
14
-
-
0026000455
-
Successful anesthetic management of a patient with hypokalemic familial periodic paralysis undergoing cardiac surgery
-
Lema G, Urzua J, Moran S, Canessa R. Successful anesthetic management of a patient with hypokalemic familial periodic paralysis undergoing cardiac surgery. Anesthesiology 1991;74:373-375.
-
(1991)
Anesthesiology
, vol.74
, pp. 373-375
-
-
Lema, G.1
Urzua, J.2
Moran, S.3
Canessa, R.4
-
15
-
-
17344368549
-
Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: Genotype-phenotype correlation
-
Manning BM, Quane KA, Ording H, Urwyler A, Tegazzin V, Lehane M, O'Halloran J, Hartung E, Giblin LM, Lynch PJ, Vaughan P, Censier K, Bendixen D, Comi G, Heytens L, Monsieurs K, Fagerlund T, Wolz W, Heffron JJ, Muller CR, McCarthy TV. Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation. Am J Hum Genet 1998;62: 599-609.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 599-609
-
-
Manning, B.M.1
Quane, K.A.2
Ording, H.3
Urwyler, A.4
Tegazzin, V.5
Lehane, M.6
O'Halloran, J.7
Hartung, E.8
Giblin, L.M.9
Lynch, P.J.10
Vaughan, P.11
Censier, K.12
Bendixen, D.13
Comi, G.14
Heytens, L.15
Monsieurs, K.16
Fagerlund, T.17
Wolz, W.18
Heffron, J.J.19
Muller, C.R.20
McCarthy, T.V.21
more..
-
16
-
-
0034087446
-
Ryanodine receptor mutations in malignant hyperthermia and central core disease
-
McCarthy TV, Quane KA, Lynch PJ. Ryanodine receptor mutations in malignant hyperthermia and central core disease. Hum Mutat 2000;15:410-417.
-
(2000)
Hum Mutat
, vol.15
, pp. 410-417
-
-
McCarthy, T.V.1
Quane, K.A.2
Lynch, P.J.3
-
18
-
-
0030922550
-
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 in skeletal muscle
-
Monnier N, Procaccio V, Stieglitz P, Lunardi J. 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 in skeletal muscle. Am J Hum Genet 1997;60:1316-1325.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 1316-1325
-
-
Monnier, N.1
Procaccio, V.2
Stieglitz, P.3
Lunardi, J.4
-
19
-
-
0024406855
-
Induction of calcium currents by the expression of the α1 subunit from the dihydropyridine receptor of skeletal muscle
-
Perez-Reyes E, Kim HS, Lacerda AE, Horne W, Wei X, Rampe D, Campbell K, Brown AM, Birnbaumer L. Induction of calcium currents by the expression of the α1 subunit from the dihydropyridine receptor of skeletal muscle. Nature 1989; 340:233-236.
-
(1989)
Nature
, vol.340
, pp. 233-236
-
-
Perez-Reyes, E.1
Kim, H.S.2
Lacerda, A.E.3
Horne, W.4
Wei, X.5
Rampe, D.6
Campbell, K.7
Brown, A.M.8
Birnbaumer, L.9
-
20
-
-
0036192880
-
Hypokalemic periodic paralysis associated with malignant hyperthermia
-
Rajabally YA, El Lahawi M. Hypokalemic periodic paralysis associated with malignant hyperthermia. Muscle Nerve 2002; 25:453-455.
-
(2002)
Muscle Nerve
, vol.25
, pp. 453-455
-
-
Rajabally, Y.A.1
El Lahawi, M.2
-
21
-
-
0024447902
-
Periodic paralysis
-
Riggs JE. Periodic paralysis. Clin Neuropharmacol 1989;12: 249-257.
-
(1989)
Clin Neuropharmacol
, vol.12
, pp. 249-257
-
-
Riggs, J.E.1
-
22
-
-
0022200921
-
Anesthetic management of a patient with hypokalemic familial periodic paralysis for coronary artery bypass surgery
-
Rollman JE, Dickson CM. Anesthetic management of a patient with hypokalemic familial periodic paralysis for coronary artery bypass surgery. Anesthesiology 1985;63:526-527.
-
(1985)
Anesthesiology
, vol.63
, pp. 526-527
-
-
Rollman, J.E.1
Dickson, C.M.2
-
23
-
-
0034859551
-
Determination of a positive malignant hyperthermia (MH) disposition without the in vitro contracture test in families carrying the RYR1 Arg614Cys mutation
-
Rueffert H, Olthoff D, Deutrich C, Froster UG. Determination of a positive malignant hyperthermia (MH) disposition without the in vitro contracture test in families carrying the RYR1 Arg614Cys mutation. Clin Genet 2001;60:117-124.
-
(2001)
Clin Genet
, vol.60
, pp. 117-124
-
-
Rueffert, H.1
Olthoff, D.2
Deutrich, C.3
Froster, U.G.4
-
24
-
-
0034964727
-
Single-amino-acid deletion in the RYR1 gene, associated with malignant hyperthermia susceptibility and unusual contraction phenotype
-
Sambuughin N, McWilliams S, de Bantel A, Sivakumar K, Nelson TE. Single-amino-acid deletion in the RYR1 gene, associated with malignant hyperthermia susceptibility and unusual contraction phenotype. Am J Hum Genet 2001;69:204-208.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 204-208
-
-
Sambuughin, N.1
McWilliams, S.2
De Bantel, A.3
Sivakumar, K.4
Nelson, T.E.5
-
25
-
-
0034892948
-
Identification and functional characterization of a novel ryanodine receptor mutation causing malignant hyperthermia in North American and South American families
-
Sambuughin N, Nelson TE, Jankovic J, Xin C, Meissner G, Mullakandov M, Ji J, Rosenberg H, Sivakumar K, Goldfarb LG. Identification and functional characterization of a novel ryanodine receptor mutation causing malignant hyperthermia in North American and South American families. Neuromuscul Disord 2001;11:530-537.
-
(2001)
Neuromuscul Disord
, vol.11
, pp. 530-537
-
-
Sambuughin, N.1
Nelson, T.E.2
Jankovic, J.3
Xin, C.4
Meissner, G.5
Mullakandov, M.6
Ji, J.7
Rosenberg, H.8
Sivakumar, K.9
Goldfarb, L.G.10
-
26
-
-
0034849743
-
North American malignant hyperthermia population: Screening of tile ryanodine receptor gene and identification of novel mutations
-
Sambuughin N, Sei Y, Gallagher KL, Wyre HW, Madsen D, Nelson TE, Fletcher JE, Rosenberg H, Muldoon SM. North American malignant hyperthermia population: screening of tile ryanodine receptor gene and identification of novel mutations. Anesthesiology 2001;95:594-549.
-
(2001)
Anesthesiology
, vol.95
, pp. 594-549
-
-
Sambuughin, N.1
Sei, Y.2
Gallagher, K.L.3
Wyre, H.W.4
Madsen, D.5
Nelson, T.E.6
Fletcher, J.E.7
Rosenberg, H.8
Muldoon, S.M.9
-
27
-
-
0016701849
-
Anesthetic management of hypokalemic periodic paralysis
-
Siler JN, Discavage WJ. Anesthetic management of hypokalemic periodic paralysis. Anaesthesiology 1975;43:489-490.
-
(1975)
Anaesthesiology
, vol.43
, pp. 489-490
-
-
Siler, J.N.1
Discavage, W.J.2
-
28
-
-
0028960477
-
Skeletal muscle DHP receptor mutations alter calcium currents in human hypokalaemic periodic paralysis myotubes
-
Sipos I, Jurkat-Rott K, Harasztosi CS, Fontaine B, Kovacs L, Melzer W, Lehmann-Horn F. Skeletal muscle DHP receptor mutations alter calcium currents in human hypokalaemic periodic paralysis myotubes. J Physiol 1995;483:299-306.
-
(1995)
J Physiol
, vol.483
, pp. 299-306
-
-
Sipos, I.1
Jurkat-Rott, K.2
Harasztosi, C.S.3
Fontaine, B.4
Kovacs, L.5
Melzer, W.6
Lehmann-Horn, F.7
-
29
-
-
0032924939
-
Anesthetic management of familial hypokalemic periodic paralysis during parturition
-
Viscomi CM, Ptacek LJ, Dudley D. Anesthetic management of familial hypokalemic periodic paralysis during parturition. Anesth Analg 1999;88:1081-1082. 170-173; 176-179
-
(1999)
Anesth Analg
, vol.88
, pp. 1081-1082
-
-
Viscomi, C.M.1
Ptacek, L.J.2
Dudley, D.3
|