-
1
-
-
0014685163
-
The mechanism of muscular contraction
-
1. Huxley HE. The mechanism of muscular contraction. Science. 1969;164:1356-1365.
-
(1969)
Science
, vol.164
, pp. 1356-1365
-
-
Huxley, H.E.1
-
2
-
-
0023718911
-
Muscular contraction
-
2. Huxley A. Muscular contraction. Annu Rev Physiol. 1988;50:1-16.
-
(1988)
Annu Rev Physiol
, vol.50
, pp. 1-16
-
-
Huxley, A.1
-
3
-
-
0023071735
-
Structural aspects of troponin-tropomyosin regulation of skeletal muscle contraction
-
3. Zot AS, Potter JD. Structural aspects of troponin-tropomyosin regulation of skeletal muscle contraction. Annu Rev Biophys Biophys Chem. 1987;16:535-559.
-
(1987)
Annu Rev Biophys Biophys Chem
, vol.16
, pp. 535-559
-
-
Zot, A.S.1
Potter, J.D.2
-
5
-
-
0023261936
-
Primary structure of the receptor for calcium channel blockers from skeletal muscle
-
5. 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
-
8
-
-
0025288735
-
Regions of the skeletal muscle dihydropyridine receptor critical for excitation-contraction coupling
-
8. Tanabe T, Beam KG, Adams BA, et al. Regions of the skeletal muscle dihydropyridine receptor critical for excitation-contraction coupling. Nature. 1990;346:567-569.
-
(1990)
Nature
, vol.346
, pp. 567-569
-
-
Tanabe, T.1
Beam, K.G.2
Adams, B.A.3
-
9
-
-
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
-
9. 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
-
10
-
-
0015856482
-
Voltage dependent charge movement of skeletal muscle: A possible step in excitation-contraction coupling
-
10. Schneider MF, Chandler WK. Voltage dependent charge movement of skeletal muscle: a possible step in excitation-contraction coupling. Nature. 1973;242:244-246.
-
(1973)
Nature
, vol.242
, pp. 244-246
-
-
Schneider, M.F.1
Chandler, W.K.2
-
11
-
-
0023113884
-
Involvement of dihydropyridine receptors in excitation-contraction coupling in skeletal muscle
-
11. Rios E, Brum G. Involvement of dihydropyridine receptors in excitation-contraction coupling in skeletal muscle. Nature. 1987; 325:717-720.
-
(1987)
Nature
, vol.325
, pp. 717-720
-
-
Rios, E.1
Brum, G.2
-
12
-
-
0026535988
-
Charge movement and the nature of signal transduction in skeletal muscle excitation-contraction coupling
-
12. Rios E, Pizarro G, Stefani E. Charge movement and the nature of signal transduction in skeletal muscle excitation-contraction coupling. Annu Rev Physiol. 1992;54:109-133.
-
(1992)
Annu Rev Physiol
, vol.54
, pp. 109-133
-
-
Rios, E.1
Pizarro, G.2
Stefani, E.3
-
15
-
-
0025912386
-
Acceleration of activation and inactivation by the beta subunit of the skeletal muscle calcium channel
-
15. Varadi G, Lory P, Schultz D, et al. Acceleration of activation and inactivation by the beta subunit of the skeletal muscle calcium channel. Nature. 1991;352:159-162.
-
(1991)
Nature
, vol.352
, pp. 159-162
-
-
Varadi, G.1
Lory, P.2
Schultz, D.3
-
16
-
-
0016835791
-
Stereological analysis of mammalian skeletal muscle. II. White vastus muscle of the adult guinea pig
-
16. Eisenberg BR, Kuda AM. Stereological analysis of mammalian skeletal muscle. II. White vastus muscle of the adult guinea pig. J Ultrastruct Res. 1975;51:176-187.
-
(1975)
J Ultrastruct Res
, vol.51
, pp. 176-187
-
-
Eisenberg, B.R.1
Kuda, A.M.2
-
17
-
-
0015963187
-
Stereological analysis of mammalian skeletal muscle. I. Soleus muscle of the adult guinea pig
-
17. Eisenberg BR, Kuda AM, Peter JB. Stereological analysis of mammalian skeletal muscle. I. Soleus muscle of the adult guinea pig. J Cell Biol. 1974;60:732-754.
-
(1974)
J Cell Biol
, vol.60
, pp. 732-754
-
-
Eisenberg, B.R.1
Kuda, A.M.2
Peter, J.B.3
-
18
-
-
0023644484
-
Purification of the ryanodine receptor and identity with feet structures of junctional terminal cisternae of sarcoplasmic reticulum from fast skeletal muscle
-
18. Inui M, Saito A, Fleischer S. Purification of the ryanodine receptor and identity with feet structures of junctional terminal cisternae of sarcoplasmic reticulum from fast skeletal muscle. J Biol Chem. 1987;262:1740-1747.
-
(1987)
J Biol Chem
, vol.262
, pp. 1740-1747
-
-
Inui, M.1
Saito, A.2
Fleischer, S.3
-
19
-
-
0024534815
-
Biochemistry and biophysics of excitation-contraction coupling
-
19. Fleischer S, Inui M. Biochemistry and biophysics of excitation-contraction coupling. Annu Rev Biophys Biophys Chem. 1989;18: 333-364.
-
(1989)
Annu Rev Biophys Biophys Chem
, vol.18
, pp. 333-364
-
-
Fleischer, S.1
Inui, M.2
-
20
-
-
0028180422
-
2+ release channels and their regulation by endogenous effectors
-
2+ release channels and their regulation by endogenous effectors. Annu Rev Physiol. 1994;56: 485-508.
-
(1994)
Annu Rev Physiol
, vol.56
, pp. 485-508
-
-
Meissner, G.1
-
22
-
-
0029941487
-
Complex pharmacology of malignant hyperthermia
-
22. Pessah IN, Lynch C III, Gronert GA. Complex pharmacology of malignant hyperthermia. Anesthesiology. 1996;84:1275-1279.
-
(1996)
Anesthesiology
, vol.84
, pp. 1275-1279
-
-
Pessah, I.N.1
Lynch C. III2
Gronert, G.A.3
-
23
-
-
0029662341
-
2+ release channels: Does diversity in form equal diversity in function?
-
2+ release channels: does diversity in form equal diversity in function? Physiol Rev. 1996;76:1027-1071.
-
(1996)
Physiol Rev
, vol.76
, pp. 1027-1071
-
-
Sutko, J.L.1
Airey, J.A.2
-
24
-
-
0016439307
-
Control of the malignant hyperpyrexic syndrome in MHS swine by dantrolene sodium
-
24. Harrison GG. Control of the malignant hyperpyrexic syndrome in MHS swine by dantrolene sodium. Br J Anaesthes. 1975;47:62-65.
-
(1975)
Br J Anaesthes
, vol.47
, pp. 62-65
-
-
Harrison, G.G.1
-
26
-
-
0017652382
-
Inhibition of the intracellular release of calcium by dantrolene in barnacle giant muscle fibres
-
26. Desmedt JE, Hainaut K. Inhibition of the intracellular release of calcium by dantrolene in barnacle giant muscle fibres. J Physiol. 1977;265:565.
-
(1977)
J Physiol
, vol.265
, pp. 565
-
-
Desmedt, J.E.1
Hainaut, K.2
-
27
-
-
0025253256
-
2+ release from sarcoplasmic reticulum in guinea pig skeletal muscle
-
2+ release from sarcoplasmic reticulum in guinea pig skeletal muscle. Eur J Pharmacol. 1990;178:11-19.
-
(1990)
Eur J Pharmacol
, vol.178
, pp. 11-19
-
-
Ohta, T.1
Ito, S.2
Ohga, A.3
-
28
-
-
0029944140
-
Dantrolene sodium can increase or attenuate activity of skeletal muscle ryanodine receptor calcium release channel. Clinical implications
-
28. Nelson TE, Lin M, Zapata-Sudo G, Sudo RT. Dantrolene sodium can increase or attenuate activity of skeletal muscle ryanodine receptor calcium release channel. Clinical implications. Anesthesiology. 1996;84:1368-1379.
-
(1996)
Anesthesiology.
, vol.84
, pp. 1368-1379
-
-
Nelson, T.E.1
Lin, M.2
Zapata-Sudo, G.3
Sudo, R.T.4
-
29
-
-
0030777358
-
2+ release by direct and specific action at skeletal muscle ryanodine receptors
-
2+ release by direct and specific action at skeletal muscle ryanodine receptors. J Biol Chem. 1997;272:26965-26971.
-
(1997)
J Biol Chem
, vol.272
, pp. 26965-26971
-
-
Fruen, B.R.1
Mickelson, J.R.2
Louis, C.F.3
-
30
-
-
0024318429
-
Primary structure and expression from complementary DNA of skeletal muscle ryanodine receptor
-
30. Takeshima H, Nishimura S, Matsumoto T, et al. Primary structure and expression from complementary DNA of skeletal muscle ryanodine receptor. Nature. 1989;339:439-445.
-
(1989)
Nature
, vol.339
, pp. 439-445
-
-
Takeshima, H.1
Nishimura, S.2
Matsumoto, T.3
-
31
-
-
0025071723
-
2+ release channel (ryanodine receptor) of skeletal muscle sarcoplasmic reticulum
-
2+ release channel (ryanodine receptor) of skeletal muscle sarcoplasmic reticulum. J Biol Chem. 1990;265:2244-2256.
-
(1990)
J Biol Chem
, vol.265
, pp. 2244-2256
-
-
Zorzato, F.1
Fujii, J.2
Otsu, K.3
-
32
-
-
0026319058
-
Identification of a mutation in porcine ryanodine receptor associated with malignant hyperthermia
-
32. Fujii J, Otsu K, Zorzato F, et al. Identification of a mutation in porcine ryanodine receptor associated with malignant hyperthermia. Science. 1991;253:448-451.
-
(1991)
Science
, vol.253
, pp. 448-451
-
-
Fujii, J.1
Otsu, K.2
Zorzato, F.3
-
33
-
-
0025171580
-
2+ release channel (ryanodine receptor) of rabbit cardiac muscle sarcoplasmic reticulum
-
2+ release channel (ryanodine receptor) of rabbit cardiac muscle sarcoplasmic reticulum. J Biol Chem. 1990;265: 13472-13483.
-
(1990)
J Biol Chem
, vol.265
, pp. 13472-13483
-
-
Otsu, K.1
Willard, H.F.2
Khanna, V.K.3
-
34
-
-
0025123804
-
Primary structure and functional expression from cDNA of the cardiac ryanodine receptor/ calcium release channel
-
34. Nakai J, Imagawa T, Hakamat Y, et al. Primary structure and functional expression from cDNA of the cardiac ryanodine receptor/ calcium release channel. FEBS Lett. 1990;271:169-177.
-
(1990)
FEBS Lett
, vol.271
, pp. 169-177
-
-
Nakai, J.1
Imagawa, T.2
Hakamat, Y.3
-
35
-
-
0028925223
-
The ryanodine receptor/calcium channel genes are widely and differentially expressed in murine brain and peripheral tissues
-
35. Giannini G, Conti A, Mammarella S, et al. The ryanodine receptor/calcium channel genes are widely and differentially expressed in murine brain and peripheral tissues. J Cell Biol. 1995;128:893-904.
-
(1995)
J Cell Biol
, vol.128
, pp. 893-904
-
-
Giannini, G.1
Conti, A.2
Mammarella, S.3
-
36
-
-
0026471048
-
Primary structure and distribution of a novel ryanodine receptor/calcium release channel from rabbit brain
-
36. Hakamata Y, Nakai J, Takeshima H, Imoto K. Primary structure and distribution of a novel ryanodine receptor/calcium release channel from rabbit brain. FEBS Lett. 1992;312:229-235.
-
(1992)
FEBS Lett
, vol.312
, pp. 229-235
-
-
Hakamata, Y.1
Nakai, J.2
Takeshima, H.3
Imoto, K.4
-
37
-
-
0023241909
-
Isolation of the ryanodine receptor from cardiac sarcoplasmic reticulum and identity with the feet structures
-
37. Inui M, Saito A, Fleischer S. Isolation of the ryanodine receptor from cardiac sarcoplasmic reticulum and identity with the feet structures. J Biol Chem. 1987;262:15637-15642.
-
(1987)
J Biol Chem
, vol.262
, pp. 15637-15642
-
-
Inui, M.1
Saito, A.2
Fleischer, S.3
-
39
-
-
0024245148
-
Structural evidence for direct interaction between the molecular components of the transverse tubule/sarcoplasmic reticulum junction in skeletal muscle
-
39. Block BA, Imagawa T, Campbell KP, Franzini-Armstrong C. Structural evidence for direct interaction between the molecular components of the transverse tubule/sarcoplasmic reticulum junction in skeletal muscle. J Cell Biol 1988;107(6 pt 2):2587-2600.
-
(1988)
J Cell Biol
, vol.107
, Issue.6 PART 2
, pp. 2587-2600
-
-
Block, B.A.1
Imagawa, T.2
Campbell, K.P.3
Franzini-Armstrong, C.4
-
40
-
-
0026093412
-
Excitation-contraction coupling in vertebrate skeletal muscle: A tale of two calcium channels
-
40. Catterall WA. Excitation-contraction coupling in vertebrate skeletal muscle: a tale of two calcium channels. Cell. 1991;64:871-874.
-
(1991)
Cell
, vol.64
, pp. 871-874
-
-
Catterall, W.A.1
-
41
-
-
0027884869
-
Structure and function of voltage-dependent calcium channels from muscle
-
41. Tanabe T, Mikami A, Niidome T, et al. Structure and function of voltage-dependent calcium channels from muscle. Ann NY Acad Sci. 1993;707:81-86.
-
(1993)
Ann Ny Acad Sci
, vol.707
, pp. 81-86
-
-
Tanabe, T.1
Mikami, A.2
Niidome, T.3
-
42
-
-
0028289310
-
Biochemical evidence for a complex involving dihydropyridine receptor and ryanodine receptor in triad junctions of skeletal muscle
-
42. Marty I, Robert M, Villaz M, et al. Biochemical evidence for a complex involving dihydropyridine receptor and ryanodine receptor in triad junctions of skeletal muscle. Proc Natl Acad Sci USA. 1994;91:2270-2274.
-
(1994)
Proc Natl Acad Sci USA
, vol.91
, pp. 2270-2274
-
-
Marty, I.1
Robert, M.2
Villaz, M.3
-
43
-
-
0028875217
-
Co-expression in CHO cells of two muscle proteins involved in excitation-contraction coupling
-
43. Takekura H, Takeshima H, Nishimura S, et al. Co-expression in CHO cells of two muscle proteins involved in excitation-contraction coupling. J Muscle Res Cell Motil. 1995;16:465-480.
-
(1995)
J Muscle Res Cell Motil
, vol.16
, pp. 465-480
-
-
Takekura, H.1
Takeshima, H.2
Nishimura, S.3
-
44
-
-
0029983398
-
Enhanced dihydropyridine receptor channel activity in the presence of ryanodine receptor
-
44. Nakai J, Dirksen RT, Nguyen HT, et al. Enhanced dihydropyridine receptor channel activity in the presence of ryanodine receptor. Nature. 1996;380:72-75.
-
(1996)
Nature
, vol.380
, pp. 72-75
-
-
Nakai, J.1
Dirksen, R.T.2
Nguyen, H.T.3
-
45
-
-
0030968771
-
Cross-linking analysis of the ryanodine receptor and alpha-1-dihydropyridine receptor in rabbit skeletal muscle triads
-
45. Murray BE, Ohlendieck K. Cross-linking analysis of the ryanodine receptor and alpha-1-dihydropyridine receptor in rabbit skeletal muscle triads. Biochem J. 1997;324:689-696.
-
(1997)
Biochem J
, vol.324
, pp. 689-696
-
-
Murray, B.E.1
Ohlendieck, K.2
-
46
-
-
0026748870
-
Cyclosporin A, FK-506, and rapamycin: Pharmacologic probes of lymphocyte signal transduction
-
46. Sigal NH, Dumont FJ. Cyclosporin A, FK-506, and rapamycin: pharmacologic probes of lymphocyte signal transduction. Annu Rev Immunol. 1992;10:519-560.
-
(1992)
Annu Rev Immunol
, vol.10
, pp. 519-560
-
-
Sigal, N.H.1
Dumont, F.J.2
-
47
-
-
0027327888
-
Prolyl isomerases catalyze antibody folding in vitro
-
47. Lilie H, Lang K, Rudolph R, Buchner J. Prolyl isomerases catalyze antibody folding in vitro. Protein Sci. 1993;2:1490-1496.
-
(1993)
Protein Sci
, vol.2
, pp. 1490-1496
-
-
Lilie, H.1
Lang, K.2
Rudolph, R.3
Buchner, J.4
-
48
-
-
0028785482
-
A novel FK506 binding protein can mediate the immunosuppressive effects of FK506 and is associated with the cardiac ryanodine receptor
-
48. Lam E, Martin MM, Timerman AP, et al. A novel FK506 binding protein can mediate the immunosuppressive effects of FK506 and is associated with the cardiac ryanodine receptor. J Biol Chem. 1995;270:26511-26522.
-
(1995)
J Biol Chem
, vol.270
, pp. 26511-26522
-
-
Lam, E.1
Martin, M.M.2
Timerman, A.P.3
-
49
-
-
0029810883
-
Selective binding of FKBP12.6 by the cardiac ryanodine receptor
-
49. Timerman AP, Onoue H, Xin HB, et al. Selective binding of FKBP12.6 by the cardiac ryanodine receptor. J Biol Chem. 1996; 271:20385-20391.
-
(1996)
J Biol Chem
, vol.271
, pp. 20385-20391
-
-
Timerman, A.P.1
Onoue, H.2
Xin, H.B.3
-
50
-
-
0029892739
-
Immunophilin modulation of calcium channel gating
-
50. Marks AR. Immunophilin modulation of calcium channel gating. Methods. 1996;9:177-187.
-
(1996)
Methods
, vol.9
, pp. 177-187
-
-
Marks, A.R.1
-
51
-
-
0030039603
-
Biochemical characterization and molecular cloning of cardiac triadin
-
51. Guo W, Jorgensen AO, Jones LR, Campbell KP. Biochemical characterization and molecular cloning of cardiac triadin. J Biol Chem. 1996;271:458-465.
-
(1996)
J Biol Chem
, vol.271
, pp. 458-465
-
-
Guo, W.1
Jorgensen, A.O.2
Jones, L.R.3
Campbell, K.P.4
-
52
-
-
0029679659
-
Triadin, a linker for calsequestrin and the ryanodine receptor
-
52. Guo W, Jorgensen AO, Campbell KP. Triadin, a linker for calsequestrin and the ryanodine receptor. Soc Gen Physiol Ser. 1996;51: 19-28.
-
(1996)
Soc Gen Physiol Ser
, vol.51
, pp. 19-28
-
-
Guo, W.1
Jorgensen, A.O.2
Campbell, K.P.3
-
53
-
-
0023132210
-
Amino acid sequence of rabbit fast-twitch skeletal muscle calsequestrin deduced from cDNA and peptide sequencing
-
53. Fliegel L, Ohnishi M, Carpenter MR, et al. Amino acid sequence of rabbit fast-twitch skeletal muscle calsequestrin deduced from cDNA and peptide sequencing. Proc Natl Acad Sci USA. 1987;84: 1167-1171.
-
(1987)
Proc Natl Acad Sci USA
, vol.84
, pp. 1167-1171
-
-
Fliegel, L.1
Ohnishi, M.2
Carpenter, M.R.3
-
54
-
-
2342558309
-
Molecular cloning and expression of cDNA encoding a lumenal calcium binding glycoprotein from sarcoplasmic reticulum
-
54. Leberer E, Charuk JH, Green NM, MacLennan DH. Molecular cloning and expression of cDNA encoding a lumenal calcium binding glycoprotein from sarcoplasmic reticulum. Proc Natl Acad Sci USA. 1989;86:6047-6051.
-
(1989)
Proc Natl Acad Sci USA
, vol.86
, pp. 6047-6051
-
-
Leberer, E.1
Charuk, J.H.2
Green, N.M.3
Maclennan, D.H.4
-
55
-
-
0025280251
-
Purification, calcium binding properties, and ultrastructural localization of the 53,000-and 160,000 (sarcalumenin)-dalton glycoproteins of the sarcoplasmic reticulum
-
55. Leberer E, Timms BG, Campbell KP, MacLennan DH. Purification, calcium binding properties, and ultrastructural localization of the 53,000-and 160,000 (sarcalumenin)-dalton glycoproteins of the sarcoplasmic reticulum. J Biol Chem. 1990;265:10118-10124.
-
(1990)
J Biol Chem
, vol.265
, pp. 10118-10124
-
-
Leberer, E.1
Timms, B.G.2
Campbell, K.P.3
Maclennan, D.H.4
-
56
-
-
0024419447
-
2+-binding protein of sarcoplasmic reticulum that contains highly conserved repeated elements
-
2+-binding protein of sarcoplasmic reticulum that contains highly conserved repeated elements. J Biol Chem. 1989;264:18083-18090.
-
(1989)
J Biol Chem
, vol.264
, pp. 18083-18090
-
-
Hofmann, S.L.1
Goldstein, J.L.2
Orth, K.3
-
57
-
-
0030897340
-
Calreticulin
-
57. Krause KH, Michalak M. Calreticulin. Cell. 1997;88:439-443.
-
(1997)
Cell
, vol.88
, pp. 439-443
-
-
Krause, K.H.1
Michalak, M.2
-
58
-
-
0029589780
-
The structure and interactions of Ca(2+)-ATPase
-
58. Martonosi AN. The structure and interactions of Ca(2+)-ATPase. Biosci Rep. 1995;15:263-281.
-
(1995)
Biosci Rep
, vol.15
, pp. 263-281
-
-
Martonosi, A.N.1
-
59
-
-
0021137066
-
Preparation and morphology of sarcoplasmic reticulum terminal cisternae from rabbit skeletal muscle
-
59. Saito A, Seiler S, Chu A, Fleischer S. Preparation and morphology of sarcoplasmic reticulum terminal cisternae from rabbit skeletal muscle. J Cell Biol 1984;99:875-885.
-
(1984)
J Cell Biol
, vol.99
, pp. 875-885
-
-
Saito, A.1
Seiler, S.2
Chu, A.3
Fleischer, S.4
-
62
-
-
0027291158
-
A mutation in the human ryanodine receptor gene associated with central core disease
-
62. Zhang Y, Chen HS, Khanna VK, et al. A mutation in the human ryanodine receptor gene associated with central core disease. Nature Genetics. 1993;5:46-50.
-
(1993)
Nature Genetics
, vol.5
, pp. 46-50
-
-
Zhang, Y.1
Chen, H.S.2
Khanna, V.K.3
-
63
-
-
0027250785
-
Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia
-
63. Quane KA, Healy JM, Keating KE, et al. Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia. Nature Genetics. 1993;5:51-55.
-
(1993)
Nature Genetics
, vol.5
, pp. 51-55
-
-
Quane, K.A.1
Healy, J.M.2
Keating, K.E.3
-
64
-
-
0022510741
-
2+-adenosine triphosphatase in sarcoplasmic reticulum (Brody's disease)
-
2+-adenosine triphosphatase in sarcoplasmic reticulum (Brody's disease). Ann Neurol. 1986;20:38-49.
-
(1986)
Ann Neurol
, vol.20
, pp. 38-49
-
-
Karpati, G.1
Charuk, J.2
Carpenter, S.3
-
66
-
-
0030989981
-
Phospholamban inhibitory function is activated by depolymerization
-
66. Kimura Y, Kurzydlowski K, Tada M, MacLennan DH. Phospholamban inhibitory function is activated by depolymerization. J Biolog Chem. 1997;272:15061-15064.
-
(1997)
J Biolog Chem
, vol.272
, pp. 15061-15064
-
-
Kimura, Y.1
Kurzydlowski, K.2
Tada, M.3
MacLennan, D.H.4
-
68
-
-
0015503620
-
Inheritance of malignant hyperpyrexia
-
68. King JO, Denborough MA, Zapf PW. Inheritance of malignant hyperpyrexia. Lancet. 1972;1:365-370.
-
(1972)
Lancet
, vol.1
, pp. 365-370
-
-
King, J.O.1
Denborough, M.A.2
Zapf, P.W.3
-
69
-
-
0002531632
-
Malignant hyperthermia: A review
-
Schönbaum E, Lomax P, eds. New York Pergamon Press;
-
69. Britt BA. Malignant hyperthermia: a review. In: Schönbaum E, Lomax P, eds. Thermoregulation: Pathology Pharmacology and Therapy. New York Pergamon Press; 1991:179-292.
-
(1991)
Thermoregulation: Pathology Pharmacology and Therapy
, pp. 179-292
-
-
Britt, B.A.1
-
71
-
-
0029962775
-
Investigation of malignant hyperthermia susceptibility in Denmark
-
71. Ørding H. Investigation of malignant hyperthermia susceptibility in Denmark. Dan Med Bull. 1996;43:111-125.
-
(1996)
Dan Med Bull
, vol.43
, pp. 111-125
-
-
Ørding, H.1
-
72
-
-
0014820368
-
Malignant hyperthermia: A statistical review
-
72. Britt BA, Kalow W. Malignant hyperthermia: a statistical review. Can Anaesth Soc J. 1970;17:293-315.
-
(1970)
Can Anaesth Soc J
, vol.17
, pp. 293-315
-
-
Britt, B.A.1
Kalow, W.2
-
73
-
-
0021813534
-
Incidence of malignant hyperthermia in Denmark
-
73. Ørding H. Incidence of malignant hyperthermia in Denmark. Anesthes Analges. 1985;64:700-704.
-
(1985)
Anesthes Analges
, vol.64
, pp. 700-704
-
-
Ørding, H.1
-
74
-
-
0026708199
-
Propofol is a 'safe' anaesthetic agent in malignant hyperthermia susceptible patients
-
74. McKenzie AJ, Couchman KG, Pollock N. Propofol is a 'safe' anaesthetic agent in malignant hyperthermia susceptible patients. Anaesthes Intens Care. 1992;20:165-168.
-
(1992)
Anaesthes Intens Care
, vol.20
, pp. 165-168
-
-
McKenzie, A.J.1
Couchman, K.G.2
Pollock, N.3
-
75
-
-
0015912935
-
Central-core disease and malignant hyperpyrexia
-
75. Denborough MA, Dennett X, Anderson RM. Central-core disease and malignant hyperpyrexia. BMJ. 1973;1:272-273.
-
(1973)
BMJ
, vol.1
, pp. 272-273
-
-
Denborough, M.A.1
Dennett, X.2
Anderson, R.M.3
-
76
-
-
0015907135
-
Anesthetic-induced malignant hyperpyrexia in children
-
76. King JO, Denborough MA. Anesthetic-induced malignant hyperpyrexia in children. J Pediatr. 1973;83:37-40.
-
(1973)
J Pediatr.
, vol.83
, pp. 37-40
-
-
King, J.O.1
Denborough, M.A.2
-
77
-
-
0020673983
-
Malignant hyperthermia in duchenne muscular dystrophy
-
77. Brownell AK, Paasuke RT, Elash A, et al. Malignant hyperthermia in Duchenne muscular dystrophy. Anesthesiology. 1983;58:180-182.
-
(1983)
Anesthesiology
, vol.58
, pp. 180-182
-
-
Brownell, A.K.1
Paasuke, R.T.2
Elash, A.3
-
78
-
-
0029016252
-
Masseter muscle rigidity associated with glycine 1306-to-alanine mutation in the adult muscle sodium channel alpha-subunit gene
-
78. Vita GM, Olckers A, Jedlicka AE, et al. Masseter muscle rigidity associated with glycine 1306-to-alanine mutation in the adult muscle sodium channel alpha-subunit gene. Anesthesiology. 1995; 82:1097-1103.
-
(1995)
Anesthesiology
, vol.82
, pp. 1097-1103
-
-
Vita, G.M.1
Olckers, A.2
Jedlicka, A.E.3
-
80
-
-
0023941213
-
Malignant hyperthermia: Relationship to other diseases
-
80. Brownell AK. Malignant hyperthermia: relationship to other diseases. Br J Anaesthes. 1988;60:303-308.
-
(1988)
Br J Anaesthes
, vol.60
, pp. 303-308
-
-
Brownell, A.K.1
-
81
-
-
0029035645
-
Anesthetic complications in muscle disorders
-
81. Iaizzo PA, Lehmann-Horn F. Anesthetic complications in muscle disorders. Anesthesiology. 1995;82:1093-1096.
-
(1995)
Anesthesiology
, vol.82
, pp. 1093-1096
-
-
Iaizzo, P.A.1
Lehmann-Horn, F.2
-
82
-
-
0024790479
-
Standardization of the caffeine halothane muscle contracture test. North American Malignant Hyperthermia Group
-
82. Larach MG. Standardization of the caffeine halothane muscle contracture test. North American Malignant Hyperthermia Group. Anesthes Analges 1989;69:511-515.
-
(1989)
Anesthes Analges
, vol.69
, pp. 511-515
-
-
Larach, M.G.1
-
83
-
-
0021149183
-
Malignant hyperpyrexia, a protocol for the investigation of malignant hyperthermia (MH) susceptibility
-
83. European MH Group. Malignant hyperpyrexia, a protocol for the investigation of malignant hyperthermia (MH) susceptibility. Br J Anaesth. 1984;56:1267-1269.
-
(1984)
Br J Anaesth
, vol.56
, pp. 1267-1269
-
-
-
84
-
-
0010339692
-
Measurement of calcium-induced calcium release activity in the sarcoplasmic reticulum membrane with special reference to diagnosis of malignant hyperthermia
-
Ohnishi ST, Ohnishi T, eds. Boca Raton, Fla: CRC Press
-
84. Endo M. Measurement of calcium-induced calcium release activity in the sarcoplasmic reticulum membrane with special reference to diagnosis of malignant hyperthermia. In: Ohnishi ST, Ohnishi T, eds. Malignant Hyperthermia. A Genetic Membrane Disease. Boca Raton, Fla: CRC Press; 1994.
-
(1994)
Malignant Hyperthermia. A Genetic Membrane Disease
-
-
Endo, M.1
-
85
-
-
0014969922
-
Metabolic error of muscle metabolism after recovery from malignant hyperthermia
-
85. Kalow W, Britt BA, Terreau ME, Haist C. Metabolic error of muscle metabolism after recovery from malignant hyperthermia. Lancet. 1970;2:895-898.
-
(1970)
Lancet
, vol.2
, pp. 895-898
-
-
Kalow, W.1
Britt, B.A.2
Terreau, M.E.3
Haist, C.4
-
86
-
-
0015491920
-
Screening for malignant hyperthermia
-
86. Ellis FR, Keaney NP, Harriman GF, et al. Screening for malignant hyperthermia. BMJ. 1972;3:559-561.
-
(1972)
BMJ
, vol.3
, pp. 559-561
-
-
Ellis, F.R.1
Keaney, N.P.2
Harriman, G.F.3
-
87
-
-
0023585201
-
Etiopathogenetic defect of malignant hyperthermia: Hypersensitive calcium-release channel of skeletal muscle sarcoplasmic reticulum
-
87. O'Brien PJ. Etiopathogenetic defect of malignant hyperthermia: hypersensitive calcium-release channel of skeletal muscle sarcoplasmic reticulum. Veterinary Res Comm. 1987;11:527-559.
-
(1987)
Veterinary Res Comm
, vol.11
, pp. 527-559
-
-
O'Brien, P.J.1
-
89
-
-
0018865670
-
Malignant hyperthermia - Pearls out of swine?
-
89. Hall GM, Lucke JN, Lister D. Malignant hyperthermia - pearls out of swine? Br J Anaesthes. 1980;52:165-171.
-
(1980)
Br J Anaesthes
, vol.52
, pp. 165-171
-
-
Hall, G.M.1
Lucke, J.N.2
Lister, D.3
-
90
-
-
84972047950
-
Growth and carcass performance of british landrace pigs heterozygous at the halothane locus
-
90. Simpson SP, Webb AJ. Growth and carcass performance of British Landrace pigs heterozygous at the halothane locus. Anim Prod. 1989;49:503-509.
-
(1989)
Anim Prod
, vol.49
, pp. 503-509
-
-
Simpson, S.P.1
Webb, A.J.2
-
92
-
-
0014944454
-
Changes underlying halothane-induced malignant hyperthermia in landrace pigs
-
92. Berman MC, Harrison GG, Bull AB, Kench JE. Changes underlying halothane-induced malignant hyperthermia in Landrace pigs. Nature. 1970;225:653-655.
-
(1970)
Nature
, vol.225
, pp. 653-655
-
-
Berman, M.C.1
Harrison, G.G.2
Bull, A.B.3
Kench, J.E.4
-
93
-
-
0014497480
-
Hyperthermia under anesthesia with regional muscle fiaccidity
-
93. Satnik JH. Hyperthermia under anesthesia with regional muscle fiaccidity. Anesthesiology. 1969;30:472.
-
(1969)
Anesthesiology
, vol.30
, pp. 472
-
-
Satnik, J.H.1
-
94
-
-
0017328125
-
Porcine malignant hyperthermia: Role of skeletal muscle in increased oxygen consumption
-
94. Gronert GA, Heffron JJ, Milde JH, Theye RA. Porcine malignant hyperthermia: role of skeletal muscle in increased oxygen consumption. Can Anaesthet Soc J. 1977;24:103-109.
-
(1977)
Can Anaesthet Soc J
, vol.24
, pp. 103-109
-
-
Gronert, G.A.1
Heffron, J.J.2
Milde, J.H.3
Theye, R.A.4
-
95
-
-
0015089198
-
Halothane-induced muscle contracture as a cause of hyperpyrexia
-
95. Ellis RF, Harriman DGF, Keaney NP, et al. Halothane-induced muscle contracture as a cause of hyperpyrexia. Br J Anaesth. 1971; 43:721.
-
(1971)
Br J Anaesth
, vol.43
, pp. 721
-
-
Ellis, R.F.1
Harriman, D.G.F.2
Keaney, N.P.3
-
97
-
-
0024242384
-
SR function in malignant hyperthermia
-
97. Nelson TE. SR function in malignant hyperthermia. Cell Calcium. 1988;9:257-265.
-
(1988)
Cell Calcium
, vol.9
, pp. 257-265
-
-
Nelson, T.E.1
-
98
-
-
0020538917
-
Changes in the Ca-induced Ca release mechanism in the sarcoplasmic reticulum of the muscle from a patient with malignant hyperthermia
-
98. Endo M, Yagi S, Ishizuka T, et al. Changes in the Ca-induced Ca release mechanism in the sarcoplasmic reticulum of the muscle from a patient with malignant hyperthermia. Biomed Res. 1983;4: 83.
-
(1983)
Biomed Res
, vol.4
, pp. 83
-
-
Endo, M.1
Yagi, S.2
Ishizuka, T.3
-
99
-
-
0020644781
-
2+ release from sarcoplasmic reticulum of pigs susceptible to malignant hyperthermia. The effects of halothane and dantrolene
-
2+ release from sarcoplasmic reticulum of pigs susceptible to malignant hyperthermia. The effects of halothane and dantrolene. FEBS Lett. 1983;161:103-107.
-
(1983)
FEBS Lett
, vol.161
, pp. 103-107
-
-
Ohnishi, S.T.1
Taylor, S.2
Gronert, G.A.3
-
100
-
-
0023943218
-
Abnormal sarcoplasmic reticulum ryanodine receptor in malignant hyperthermia
-
100. Mickelson JR, Gallant EM, Litterer LA, et al. Abnormal sarcoplasmic reticulum ryanodine receptor in malignant hyperthermia. J Biolog Chem. 1988;263:9310-9315.
-
(1988)
J Biolog Chem
, vol.263
, pp. 9310-9315
-
-
Mickelson, J.R.1
Gallant, E.M.2
Litterer, L.A.3
-
101
-
-
0025307892
-
Abnormal ryanodine receptor channels in malignant hyperthermia
-
101. Fill M, Coronado R, Mickelson JR, et al. Abnormal ryanodine receptor channels in malignant hyperthermia. Biophys J. 1990;57: 471-475.
-
(1990)
Biophys J
, vol.57
, pp. 471-475
-
-
Fill, M.1
Coronado, R.2
Mickelson, J.R.3
-
102
-
-
0027510299
-
Reconstitution of abnormalities in the malignant hyperthermia-susceptible pig ryanodine receptor
-
102. Shomer NH, Louis CF, Fill M, et al. Reconstitution of abnormalities in the malignant hyperthermia-susceptible pig ryanodine receptor. Am J Physiol. 1993;264:C125-135.
-
(1993)
Am J Physiol
, vol.264
-
-
Shomer, N.H.1
Louis, C.F.2
Fill, M.3
-
103
-
-
0025734852
-
2+ release channels in malignant hyperthermic skeletal muscle
-
2+ release channels in malignant hyperthermic skeletal muscle. Biophys J. 1991;59:1085-1090.
-
(1991)
Biophys J
, vol.59
, pp. 1085-1090
-
-
Fill, M.1
Stefani, E.2
Nelson, T.E.3
-
104
-
-
0022369143
-
Prediction of the halothane (Hal) genotypes of pigs by deducing Hal, Phi, Po2, Pgd haplotypes of parents and offspring: Results from a large-scale practice in Swedish breed
-
104. Gahne B, Juneja RK. Prediction of the halothane (Hal) genotypes of pigs by deducing Hal, Phi, Po2, Pgd haplotypes of parents and offspring: results from a large-scale practice in Swedish breed. Anim Blood Groups Biochem Genet. 1985;16:265-283.
-
(1985)
Anim Blood Groups Biochem Genet
, vol.16
, pp. 265-283
-
-
Gahne, B.1
Juneja, R.K.2
-
105
-
-
0022338176
-
The halothane sensitivity locus and its linkage relationships
-
105. Archibald AL, Imlah P. The halothane sensitivity locus and its linkage relationships. Anim Blood Groups Biochem Genet. 1985;16: 253-263.
-
(1985)
Anim Blood Groups Biochem Genet
, vol.16
, pp. 253-263
-
-
Archibald, A.L.1
Imlah, P.2
-
106
-
-
0023805042
-
Porcine malignant hyperthermia carrier detection and chromosomal assignment using a linked probe
-
106. Davies W, Harbitz I, Fries R, et al. Porcine malignant hyperthermia carrier detection and chromosomal assignment using a linked probe. Anim Genet. 1988;19:203-212.
-
(1988)
Anim Genet
, vol.19
, pp. 203-212
-
-
Davies, W.1
Harbitz, I.2
Fries, R.3
-
107
-
-
0024406518
-
Localization of the glucose phosphate isomerase gene to p12-q21 segment of chromosome 6 in pig by in situ hybridization
-
107. Chowdhary BP, Harbitz I, Makinen A, et al. Localization of the glucose phosphate isomerase gene to p12-q21 segment of chromosome 6 in pig by in situ hybridization. Hereditas. 1989;111:73-78.
-
(1989)
Hereditas
, vol.111
, pp. 73-78
-
-
Chowdhary, B.P.1
Harbitz, I.2
Makinen, A.3
-
108
-
-
0025006128
-
Assignment of the porcine calcium release channel gene, a candidate for the malignant hyperthermia locus, to the 6p11-q21 segment of chromosome 6
-
108. Harbitz L, Chowdhary B, Thomsen P, et al. Assignment of the porcine calcium release channel gene, a candidate for the malignant hyperthermia locus, to the 6p11-q21 segment of chromosome 6. Genomics. 1990;9:243-248.
-
(1990)
Genomics
, vol.9
, pp. 243-248
-
-
Harbitz, L.1
Chowdhary, B.2
Thomsen, P.3
-
109
-
-
0346346777
-
Regional mapping of human chromosome 19: Organization of genes for plasma lipid transport (APOC1, -C2 and -E and LDLR) and the genes C3, PEPD and GPI
-
109. Lusis AJ, Heinzmann C, Sparkes RS, et al. Regional mapping of human chromosome 19: Organization of genes for plasma lipid transport (APOC1, -C2 and -E and LDLR) and the genes C3, PEPD and GPI. Proc Natl Acad Sci USA. 1986;83:3929-3933.
-
(1986)
Proc Natl Acad Sci USA
, vol.83
, pp. 3929-3933
-
-
Lusis, A.J.1
Heinzmann, C.2
Sparkes, R.S.3
-
110
-
-
0025290385
-
The human ryanodine receptor gene: Its mapping to 19q13.1, placement in a chromosome 19 linkage group, and exclusion as the gene causing myotonic dystrophy
-
110. MacKenzie AE, Korneluk RG, Zorzato F, et al. The human ryanodine receptor gene: its mapping to 19q13.1, placement in a chromosome 19 linkage group, and exclusion as the gene causing myotonic dystrophy. Am J Hum Genet. 1990;46:1082-1089.
-
(1990)
Am J Hum Genet
, vol.46
, pp. 1082-1089
-
-
MacKenzie, A.E.1
Korneluk, R.G.2
Zorzato, F.3
-
111
-
-
0025176813
-
Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia
-
111. MacLennan DH, Duff C, Zorzato F, et al. Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia. Nature. 1990;343:559-561.
-
(1990)
Nature
, vol.343
, pp. 559-561
-
-
MacLennan, D.H.1
Duff, C.2
Zorzato, F.3
-
112
-
-
0025186845
-
Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q12-13.2
-
112. McCarthy TV, Healy JM, Heffron JJ, et al. Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q12-13.2. Nature. 1990;343:562-564.
-
(1990)
Nature.
, vol.343
, pp. 562-564
-
-
McCarthy, T.V.1
Healy, J.M.2
Heffron, J.J.3
-
113
-
-
0026052908
-
Cosegregation of porcine malignant hyperthermia and a probable causal mutation in the skeletal muscle ryanodine receptor gene in backcross families
-
113. Otsu K, Khanna VK, Archibald AL, MacLennan DH. Cosegregation of porcine malignant hyperthermia and a probable causal mutation in the skeletal muscle ryanodine receptor gene in backcross families. Genomics. 1991;11:744-750.
-
(1991)
Genomics
, vol.11
, pp. 744-750
-
-
Otsu, K.1
Khanna, V.K.2
Archibald, A.L.3
MacLennan, D.H.4
-
114
-
-
0026246360
-
A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia
-
114. Gillard EF, Otsu K, Fujii J, et al. A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia. Genomics. 1991;11:751-755.
-
(1991)
Genomics
, vol.11
, pp. 751-755
-
-
Gillard, E.F.1
Otsu, K.2
Fujii, J.3
-
115
-
-
0026662792
-
Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia
-
115. Gillard EF, Otsu K, Fujii J, et al. Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia. Genomics. 1992;13:1247-1254.
-
(1992)
Genomics
, vol.13
, pp. 1247-1254
-
-
Gillard, E.F.1
Otsu, K.2
Fujii, J.3
-
116
-
-
0030775059
-
Detection of a novel mutation at amino acid position 614 in the ryanodine receptor in malignant hyperthermia
-
In press.
-
116. Quane KA, Ørding H, Keating KE, et al. Detection of a novel mutation at amino acid position 614 in the ryanodine receptor in malignant hyperthermia. Br J Anaesth. In press.
-
Br J Anaesth
-
-
Quane, K.A.1
Ørding, H.2
Keating, K.E.3
-
117
-
-
0026743332
-
A cysteine-for-arginine substitution (R614C) in the human skeletal muscle calcium release channel cosegregates with malignant hyperthermia
-
117. Hogan K, Couch F, Powers PA, Gregg RG. A cysteine-for-arginine substitution (R614C) in the human skeletal muscle calcium release channel cosegregates with malignant hyperthermia. Anesthes Analges. 1992;75:441-448.
-
(1992)
Anesthes Analges
, vol.75
, pp. 441-448
-
-
Hogan, K.1
Couch, F.2
Powers, P.A.3
Gregg, R.G.4
-
118
-
-
0029002150
-
Discordance, in a malignant hyperthermia pedigree, between in vitro contracture-test phenotypes and haplotypes for the MHS1 region on chromosome 19q12-13.2, comprising the C1840T transition in the RYR1 gene
-
118. Deufel T, Sudbrak R, Feist Y, et al. Discordance, in a malignant hyperthermia pedigree, between in vitro contracture-test phenotypes and haplotypes for the MHS1 region on chromosome 19q12-13.2, comprising the C1840T transition in the RYR1 gene. Am J Hum Genet. 1995;56:1334-1342.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 1334-1342
-
-
Deufel, T.1
Sudbrak, R.2
Feist, Y.3
-
119
-
-
0030064170
-
Comparison of the segregation of the RYR1 C1840T mutation with segregation of the caffeine/halothane contracture test results for malignant hyperthermia susceptibility in a large Manitoba Mennonite family
-
119. Serfas KD, Bose D, Patel L, et al. Comparison of the segregation of the RYR1 C1840T mutation with segregation of the caffeine/halothane contracture test results for malignant hyperthermia susceptibility in a large Manitoba Mennonite family. Anesthesiology. 1996;84:322-329.
-
(1996)
Anesthesiology
, vol.84
, pp. 322-329
-
-
Serfas, K.D.1
Bose, D.2
Patel, L.3
-
120
-
-
0028826509
-
Discordance between phenotype and genotype in malignant hyperthermia
-
120. MacLennan DH. Discordance between phenotype and genotype in malignant hyperthermia. Curr Opin Neurol. 1995;8:397-401.
-
(1995)
Curr Opin Neurol
, vol.8
, pp. 397-401
-
-
MacLennan, D.H.1
-
121
-
-
0028177821
-
2+ release channel of skeletal sarcoplasmic reticulum is responsible for hypersensitivity to caffeine and halothane in malignant hyperthermia
-
2+ release channel of skeletal sarcoplasmic reticulum is responsible for hypersensitivity to caffeine and halothane in malignant hyperthermia. J Biolog Chem. 1994;269:9413-9415.
-
(1994)
J Biolog Chem
, vol.269
, pp. 9413-9415
-
-
Otsu, K.1
Nishida, K.2
Kimura, Y.3
-
122
-
-
0028170142
-
2+ transients in COS-7 cells transfected with the cDNA encoding skeletal-muscle ryanodine receptor carrying a mutation associated with malignant hyperthermia
-
2+ transients in COS-7 cells transfected with the cDNA encoding skeletal-muscle ryanodine receptor carrying a mutation associated with malignant hyperthermia. Biochem. J. 1994;301:661-665.
-
(1994)
Biochem. J
, vol.301
, pp. 661-665
-
-
Treves, S.1
Larini, F.2
Menegazzi, P.3
-
123
-
-
0030666554
-
2+ release is altered by 15 calcium release channel (ryanodine receptor) mutations associated with malignant hyperthermia and/or central core disease
-
2+ release is altered by 15 calcium release channel (ryanodine receptor) mutations associated with malignant hyperthermia and/or central core disease. J Biol Chem. 1997;272:26332-26339.
-
(1997)
J Biol Chem
, vol.272
, pp. 26332-26339
-
-
Tong, J.1
Oyamada, H.2
Demaurex, N.3
-
124
-
-
0029884111
-
RYR mutation G1021A (Gly341Arg) is not frequent in Danish and Swedish families with malignant hyperthermia susceptibility
-
124. Fagerlund T, Ørding H, Bendixen D, et al. RYR mutation G1021A (Gly341Arg) is not frequent in Danish and Swedish families with malignant hyperthermia susceptibility. Clin Genet. 1996;49:186-188.
-
(1996)
Clin Genet
, vol.49
, pp. 186-188
-
-
Fagerlund, T.1
Ørding, H.2
Bendixen, D.3
-
125
-
-
16944363674
-
The G1021A substitution in the RYR1 gene does not cosegregate with malignant hyperthermia susceptibility in a British pedigree
-
125. Adeokun AM, West SP, Ellis FR, et al. The G1021A substitution in the RYR1 gene does not cosegregate with malignant hyperthermia susceptibility in a British pedigree. Am J Hum Genet. 1997;60:833-841.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 833-841
-
-
Adeokun, A.M.1
West, S.P.2
Ellis, F.R.3
-
126
-
-
0028670142
-
The substitution of Arg for Gly2433 in the human skeletal muscle ryanodine receptor is associated with malignant hyperthermia
-
126. Phillips MS, Khanna VK, De Leon S, et al. The substitution of Arg for Gly2433 in the human skeletal muscle ryanodine receptor is associated with malignant hyperthermia. Hum Molec Genet. 1994; 3:2181-2186.
-
(1994)
Hum Molec Genet
, vol.3
, pp. 2181-2186
-
-
Phillips, M.S.1
Khanna, V.K.2
De Leon, S.3
-
127
-
-
0025311784
-
Phaeochromocytoma presenting as acute malignant hyperthermia - A diagnostic challenge
-
127. Allen GC, Rosenberg H. Phaeochromocytoma presenting as acute malignant hyperthermia - a diagnostic challenge. Can J Anaesthes. 1990;37:593-595.
-
(1990)
Can J Anaesthes
, vol.37
, pp. 593-595
-
-
Allen, G.C.1
Rosenberg, H.2
-
128
-
-
0025140592
-
Differential diagnosis of MH
-
128. Heytens L. Differential diagnosis of MH. Acta Anaesthes Belgica. 1990;41:95-102.
-
(1990)
Acta Anaesthes Belgica
, vol.41
, pp. 95-102
-
-
Heytens, L.1
-
130
-
-
0027202631
-
A hypermetabolic reaction during anaesthesia and surgery. A case report
-
130. Hopkins D, Shipton EA. A hypermetabolic reaction during anaesthesia and surgery. A case report. South African J Surg. 1993;31:85-88.
-
(1993)
South African J Surg
, vol.31
, pp. 85-88
-
-
Hopkins, D.1
Shipton, E.A.2
-
131
-
-
0029558598
-
Malignant hyperthermia suggestive hypermetabolic syndrome at emergence from anesthesia
-
131. Christiaens F, Gepts E, D'Haese J, Camu F. Malignant hyperthermia suggestive hypermetabolic syndrome at emergence from anesthesia. Acta Anaesthesiol Belgica. 1995;46:93-97.
-
(1995)
Acta Anaesthesiol Belgica
, vol.46
, pp. 93-97
-
-
Christiaens, F.1
Gepts, E.2
D'Haese, J.3
Camu, F.4
-
132
-
-
0027525029
-
Diagnostik der Disposition zur Malignen Hyperthermie. Teil 2: Anasthesie zur Muskelbiopsie. Differentialdiagnosen bei negativem Testergebnis
-
132. Breucking E, Mortier W. Diagnostik der Disposition zur Malignen Hyperthermie. Teil 2: Anasthesie zur Muskelbiopsie. Differentialdiagnosen bei negativem Testergebnis. Anaesthesist. 1993;42:684-690.
-
(1993)
Anaesthesist
, vol.42
, pp. 684-690
-
-
Breucking, E.1
Mortier, W.2
-
133
-
-
0030074924
-
Differential diagnosis of malignant hyperthermia
-
133. LaPointe G. Differential diagnosis of malignant hyperthermia. AANA J. 1996;64:4.
-
(1996)
AANA J
, vol.64
, pp. 4
-
-
LaPointe, G.1
-
134
-
-
0025115084
-
Malignant hyperthermia: The clinical syndrome
-
134. Ranklev-Twetman E. Malignant hyperthermia: the clinical syndrome. Acta Anaesthesiol. Belgica. 1990;41:79-82.
-
(1990)
Acta Anaesthesiol. Belgica
, vol.41
, pp. 79-82
-
-
Ranklev-Twetman, E.1
-
135
-
-
0025726571
-
Masseter muscle spasm in children: Implications of continuing the triggering anesthetic
-
135. Littleford JA, Patel LR, Bose D, et al. Masseter muscle spasm in children: implications of continuing the triggering anesthetic. Anesthes Analges. 1991;72:151-160.
-
(1991)
Anesthes Analges
, vol.72
, pp. 151-160
-
-
Littleford, J.A.1
Patel, L.R.2
Bose, D.3
-
136
-
-
0028284933
-
A clinical grading scale to predict malignant hyperthermia susceptibility
-
136. Larach MG, Localio AR, Allen GC, et al. A clinical grading scale to predict malignant hyperthermia susceptibility. Anesthesiology. 1994;80:771-779.
-
(1994)
Anesthesiology
, vol.80
, pp. 771-779
-
-
Larach, M.G.1
Localio, A.R.2
Allen, G.C.3
-
137
-
-
0027199281
-
Should we use muscle biopsy to diagnose malignant hyperthermia susceptibility?
-
137. Larach MG. Should we use muscle biopsy to diagnose malignant hyperthermia susceptibility? Anesthesiology. 1993;79:1-4.
-
(1993)
Anesthesiology
, vol.79
, pp. 1-4
-
-
Larach, M.G.1
-
138
-
-
0018665038
-
Retrospective analysis of anaesthesias received by patients before susceptibility to malignant hyperpyrexia was recognized
-
138. Halsall PJ, Cain PA, Ellis FR. Retrospective analysis of anaesthesias received by patients before susceptibility to malignant hyperpyrexia was recognized. Br J Anaesth. 1979;51:949-954.
-
(1979)
Br J Anaesth
, vol.51
, pp. 949-954
-
-
Halsall, P.J.1
Cain, P.A.2
Ellis, F.R.3
-
139
-
-
0025259168
-
Safety of general anesthesia in patients previously tested negative for malignant hyperthermia susceptibility
-
139. Allen GC, Rosenberg H, Fletcher JE. Safety of general anesthesia in patients previously tested negative for malignant hyperthermia susceptibility. Anesthesiology. 1990;72:619-622.
-
(1990)
Anesthesiology
, vol.72
, pp. 619-622
-
-
Allen, G.C.1
Rosenberg, H.2
Fletcher, J.E.3
-
140
-
-
0030968063
-
Analysis of anaesthesia in patients suspected to be susceptible to malignant hyperthermia before diagnostic in vitro contracture test
-
140. Bendixen D, Skovgaard LT, Ording H. Analysis of anaesthesia in patients suspected to be susceptible to malignant hyperthermia before diagnostic in vitro contracture test. Acta Anaesthesiol Scand. 1997;41:480-484.
-
(1997)
Acta Anaesthesiol Scand
, vol.41
, pp. 480-484
-
-
Bendixen, D.1
Skovgaard, L.T.2
Ording, H.3
-
141
-
-
0010339933
-
The North American protocol for the caffeine halothane contracture test in the diagnosis of malignant hyperthermia
-
Ohnishi ST, Ohnishi T, eds. Boca Raton, Fla: CRC Press
-
141. Britt BA. The North American protocol for the caffeine halothane contracture test in the diagnosis of malignant hyperthermia. In: Ohnishi ST, Ohnishi T, eds. Malignant Hyperthermia: A Genetic Membrane Disease. Boca Raton, Fla: CRC Press; 1994:171-198.
-
(1994)
Malignant Hyperthermia: A Genetic Membrane Disease
, pp. 171-198
-
-
Britt, B.A.1
-
142
-
-
0030664656
-
Should we reassess the susceptibility of MH patients?
-
142. Larach MG. Should we reassess the susceptibility of MH patients? Can J Anaesth. 1997;44:685-688.
-
(1997)
Can J Anaesth
, vol.44
, pp. 685-688
-
-
Larach, M.G.1
-
146
-
-
0023771727
-
Estimation of test error rates, disease prevalence and relative risk from misclassified data: A review
-
146. Walter SD, Irwig LM. Estimation of test error rates, disease prevalence and relative risk from misclassified data: a review. J Clin Epidemiol. 1988;41:923-937.
-
(1988)
J Clin Epidemiol
, vol.41
, pp. 923-937
-
-
Walter, S.D.1
Irwig, L.M.2
-
147
-
-
0026536818
-
Prediction of malignant hyperthermia susceptibility in low-risk subjects. An epidemiologic investigation of caffeine halothane contracture responses. The North American Malignant Hyperthermia Registry
-
147. Larach MG, Landis JR, Bunn JS, Diaz M. Prediction of malignant hyperthermia susceptibility in low-risk subjects. An epidemiologic investigation of caffeine halothane contracture responses. The North American Malignant Hyperthermia Registry. Anesthesiology. 1992;76:16-27.
-
(1992)
Anesthesiology
, vol.76
, pp. 16-27
-
-
Larach, M.G.1
Landis, J.R.2
Bunn, J.S.3
Diaz, M.4
-
148
-
-
0025002159
-
Clinical presentation of suspected malignant hyperthermia during anaesthesia in 402 probands
-
148. Ellis FR, Halsall PJ, Christian AS. Clinical presentation of suspected malignant hyperthermia during anaesthesia in 402 probands. Anaesthesia. 1990;45:838-841.
-
(1990)
Anaesthesia
, vol.45
, pp. 838-841
-
-
Ellis, F.R.1
Halsall, P.J.2
Christian, A.S.3
-
149
-
-
0031058126
-
An analysis of the predictive probability of the in vitro contracture test for determining susceptibility to malignant hyperthermia
-
149. Hopkins PM, Ellis FR, Halsall PJ, Stewart AD. An analysis of the predictive probability of the in vitro contracture test for determining susceptibility to malignant hyperthermia. Anesthes Analges. 1997;84:648-656.
-
(1997)
Anesthes Analges
, vol.84
, pp. 648-656
-
-
Hopkins, P.M.1
Ellis, F.R.2
Halsall, P.J.3
Stewart, A.D.4
-
150
-
-
0031951496
-
The sensitivity and specificity of the caffeine halothane contracture test: A report from the North American Malignant Hyperthermia Registry
-
150. Allen GC, Larach MG, Kunselman AR. The sensitivity and specificity of the caffeine halothane contracture test: a report from the North American Malignant Hyperthermia Registry. Anesthesiology. 1998;88:579-588.
-
(1998)
Anesthesiology
, vol.88
, pp. 579-588
-
-
Allen, G.C.1
Larach, M.G.2
Kunselman, A.R.3
-
151
-
-
9844240499
-
In vitro contracture test for diagnosis of malignant hyperthermia following the protocol of the European MH group: Results of testing patients surviving fulminant MH and unrelated low-risk subjects
-
151. Ørding H, Brancadoro V, Cozzolino S, et al. In vitro contracture test for diagnosis of malignant hyperthermia following the protocol of the European MH group: results of testing patients surviving fulminant MH and unrelated low-risk subjects. Acta Anaesthesiol Scand. 1997;41:955-966.
-
(1997)
Acta Anaesthesiol Scand
, vol.41
, pp. 955-966
-
-
Ørding, H.1
Brancadoro, V.2
Cozzolino, S.3
-
152
-
-
0028358441
-
Genetic effects on the variability of the halothane and caffeine muscle contracture tests
-
152. Urwyler A, Censier K, Kaufmann MA, Drewe J. Genetic effects on the variability of the halothane and caffeine muscle contracture tests. Anesthesiology. 1994;80:1287-1295.
-
(1994)
Anesthesiology
, vol.80
, pp. 1287-1295
-
-
Urwyler, A.1
Censier, K.2
Kaufmann, M.A.3
Drewe, J.4
-
153
-
-
0020537996
-
Spectrum of susceptibility to malignant hyperthermia - Diagnostic dilemma
-
153. Nelson TE, Flewellen EH, Gloyna DF. Spectrum of susceptibility to malignant hyperthermia - diagnostic dilemma. Anesthes Analges. 1983;62(6):545-552.
-
(1983)
Anesthes Analges
, vol.62
, Issue.6
, pp. 545-552
-
-
Nelson, T.E.1
Flewellen, E.H.2
Gloyna, D.F.3
-
154
-
-
0031057519
-
Functional characterization of a distinct ryanodine receptor mutation in human malignant hyperthermia-susceptible muscle
-
154. Richter M, Schleithoff L, Deufel T, et al. Functional characterization of a distinct ryanodine receptor mutation in human malignant hyperthermia-susceptible muscle. J Biolog Chem. 1997;272: 5256-5260.
-
(1997)
J Biolog Chem
, vol.272
, pp. 5256-5260
-
-
Richter, M.1
Schleithoff, L.2
Deufel, T.3
-
155
-
-
0029843522
-
Calmodulin sensitivity of the sarcoplasmic reticulum ryanodine receptor from normal and malignant-hyperthermia-susceptible muscle
-
155. O'Driscoll S, McCarthy TV, Eichinger HM, et al. Calmodulin sensitivity of the sarcoplasmic reticulum ryanodine receptor from normal and malignant-hyperthermia-susceptible muscle. Biochem J. 1996;319:421-426.
-
(1996)
Biochem J
, vol.319
, pp. 421-426
-
-
Driscoll, S.1
McCarthy, T.V.2
Eichinger, H.M.3
-
156
-
-
0030006962
-
The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene
-
156. Phillips MS, Fujii J, Khanna VK, et al. The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene. Genomics. 1996;34:24-41.
-
(1996)
Genomics
, vol.34
, pp. 24-41
-
-
Phillips, M.S.1
Fujii, J.2
Khanna, V.K.3
-
157
-
-
0027275221
-
Accelerated contractures after administration of ryanodine to skeletal muscle of malignant hyperthermia susceptible patients
-
157. Lenzen C, Roewer N, Wappler F, et al. Accelerated contractures after administration of ryanodine to skeletal muscle of malignant hyperthermia susceptible patients. Br J Anaesthes. 1993;71:242-246.
-
(1993)
Br J Anaesthes
, vol.71
, pp. 242-246
-
-
Lenzen, C.1
Roewer, N.2
Wappler, F.3
-
158
-
-
0027481856
-
Comparison of in vitro contracture testing with ryanodine, halothane and caffeine in malignant hyperthermia and other neuromuscular disorders
-
158. Hopkins PM, Ellis FR, Halsall PJ. Comparison of in vitro contracture testing with ryanodine, halothane and caffeine in malignant hyperthermia and other neuromuscular disorders. Br J Anaesthes. 1993;70:397-401.
-
(1993)
Br J Anaesthes
, vol.70
, pp. 397-401
-
-
Hopkins, P.M.1
Ellis, F.R.2
Halsall, P.J.3
-
159
-
-
0029996591
-
4-Chloro-m-cresol: A specific tool to distinguish between malignant hyperthermia-susceptible and normal muscle
-
159. Herrmann-Frank A, Richter M, Lehmann-Horn F. 4-Chloro-m-cresol: a specific tool to distinguish between malignant hyperthermia-susceptible and normal muscle. Biochem Pharmacol. 1996;52: 149-155.
-
(1996)
Biochem Pharmacol
, vol.52
, pp. 149-155
-
-
Herrmann-Frank, A.1
Richter, M.2
Lehmann-Horn, F.3
-
163
-
-
0025268945
-
Cytosolic free calcium concentrations in lymphocytes from malignant hyperthermia susceptible patients
-
163. Ørding H, Foder B, Scharff O. Cytosolic free calcium concentrations in lymphocytes from malignant hyperthermia susceptible patients. Br J Anaesthes. 1990;64:341-345.
-
(1990)
Br J Anaesthes
, vol.64
, pp. 341-345
-
-
Ørding, H.1
Foder, B.2
Scharff, O.3
-
164
-
-
0023214357
-
Selective increase in cytoplasmic calcium by anesthetic in lymphocytes from malignant hyperthermia-susceptible pigs
-
164. Klip A, Ramlal T, Walker D, et al. Selective increase in cytoplasmic calcium by anesthetic in lymphocytes from malignant hyperthermia-susceptible pigs. Anesthes Analges. 1987;66:381-385.
-
(1987)
Anesthes Analges
, vol.66
, pp. 381-385
-
-
Klip, A.1
Ramlal, T.2
Walker, D.3
-
165
-
-
0025222427
-
Importance of fasting in the lymphocyte calcium test for malignant hyperthermia
-
165. Fletcher JE, Conner GE, Allen GC, et al. Importance of fasting in the lymphocyte calcium test for malignant hyperthermia. Acta Anaesthesiol Scand. 1990;34:636-639.
-
(1990)
Acta Anaesthesiol Scand
, vol.34
, pp. 636-639
-
-
Fletcher, J.E.1
Conner, G.E.2
Allen, G.C.3
-
166
-
-
0025728716
-
2+ induced by halothane in hepatocytes isolated from swine susceptible to malignant hyperthermia
-
2+ induced by halothane in hepatocytes isolated from swine susceptible to malignant hyperthermia. Anesthesiology. 1991;74:531-538.
-
(1991)
Anesthesiology
, vol.74
, pp. 531-538
-
-
Iaizzo, P.A.1
Seewald, M.J.2
Olsen, R.3
-
167
-
-
0023197209
-
Calcium uptake in frozen muscle biopsy sections compared with other predictors of malignant hyperthermia susceptibility
-
167. Nagarajan K, Fishbein WN, Muldoon SM, Pezeshkpour G. Calcium uptake in frozen muscle biopsy sections compared with other predictors of malignant hyperthermia susceptibility. Anesthesiology. 1987;66:680-685.
-
(1987)
Anesthesiology
, vol.66
, pp. 680-685
-
-
Nagarajan, K.1
Fishbein, W.N.2
Muldoon, S.M.3
Pezeshkpour, G.4
-
168
-
-
0025940307
-
Erythrocyte membrane fluidity in malignant hyperthermia
-
168. Cooper P, Meddings JB. Erythrocyte membrane fluidity in malignant hyperthermia. Biochimica et Biophysica Acta. 1991;1069:151-156.
-
(1991)
Biochimica et Biophysica Acta
, vol.1069
, pp. 151-156
-
-
Cooper, P.1
Meddings, J.B.2
-
169
-
-
0026485256
-
Evaluation of spin resonance spectroscopy of red blood cell membranes to detect malignant hyperthermia susceptibility
-
169. Halsall PJ, Ellis FR, Knowles PF. Evaluation of spin resonance spectroscopy of red blood cell membranes to detect malignant hyperthermia susceptibility. Br J Anaesthes. 1992;69:471-473.
-
(1992)
Br J Anaesthes
, vol.69
, pp. 471-473
-
-
Halsall, P.J.1
Ellis, F.R.2
Knowles, P.F.3
-
170
-
-
0023882391
-
Non-invasive evaluation of malignant hyperthermia susceptibility with phosphorus nuclear magnetic resonance spectroscopy
-
170. Olgin J, Argov Z, Rosenberg H, et al. Non-invasive evaluation of malignant hyperthermia susceptibility with phosphorus nuclear magnetic resonance spectroscopy. Anesthesiology. 1988;68:507-513.
-
(1988)
Anesthesiology
, vol.68
, pp. 507-513
-
-
Olgin, J.1
Argov, Z.2
Rosenberg, H.3
-
171
-
-
0025026303
-
Metabolic response to exercise in malignant hyperthermia-sensitive patients measured by 31P magnetic resonance spectroscopy
-
171. Webster DW, Thompson RT, Gravelle DR, et al. Metabolic response to exercise in malignant hyperthermia-sensitive patients measured by 31P magnetic resonance spectroscopy. Magnet Reson Med. 1990;15:81-89.
-
(1990)
Magnet Reson Med
, vol.15
, pp. 81-89
-
-
Webster, D.W.1
Thompson, R.T.2
Gravelle, D.R.3
-
172
-
-
0025846932
-
In vitro correlation between force and energy metabolism in porcine malignant hyperthermic muscle studied by 31P NMR
-
172. Reiss GK, Desmoulin F, Martin CF, et al. In vitro correlation between force and energy metabolism in porcine malignant hyperthermic muscle studied by 31P NMR. Arch Biochem Biophys. 1991; 287:312-319.
-
(1991)
Arch Biochem Biophys
, vol.287
, pp. 312-319
-
-
Reiss, G.K.1
Desmoulin, F.2
Martin, C.F.3
-
173
-
-
0025765325
-
A blinded comparison of noninvasive, in vivo phosphorus nuclear magnetic resonance spectroscopy and the in vitro halothane/caffeine contracture test in the evaluation of malignant hyperthermia susceptibility
-
173. Olgin J, Rosenberg H, Allen G, et al. A blinded comparison of noninvasive, in vivo phosphorus nuclear magnetic resonance spectroscopy and the in vitro halothane/caffeine contracture test in the evaluation of malignant hyperthermia susceptibility. Anesthes Analges. 1991;72:36-47.
-
(1991)
Anesthes Analges
, vol.72
, pp. 36-47
-
-
Olgin, J.1
Rosenberg, H.2
Allen, G.3
-
174
-
-
0027287925
-
Improved noninvasive diagnostic testing for malignant hyperthermia susceptibility from a combination of metabolites determined in vivo with 31P-magnetic resonance spectroscopy
-
174. Payen JF, Bosson JL, Bourdon L, et al. Improved noninvasive diagnostic testing for malignant hyperthermia susceptibility from a combination of metabolites determined in vivo with 31P-magnetic resonance spectroscopy. Anesthesiology. 1993;78:848-855.
-
(1993)
Anesthesiology
, vol.78
, pp. 848-855
-
-
Payen, J.F.1
Bosson, J.L.2
Bourdon, L.3
-
176
-
-
0030046927
-
Evaluation prospective d'un score RMN dans le depistage de la sensibilite a l'hyperthermie maligne. Resultats preliminaires
-
176. Payen JF, Bosson JL, Stieglitz P. Evaluation prospective d'un score RMN dans le depistage de la sensibilite a l'hyperthermie maligne. Resultats preliminaires. Annales Francaises d Anesthesie et de Reanimation. 1996;15:47-48.
-
(1996)
Annales Francaises d Anesthesie et de Reanimation
, vol.15
, pp. 47-48
-
-
Payen, J.F.1
Bosson, J.L.2
Stieglitz, P.3
-
177
-
-
0030726334
-
Clinical reassessment of malignant hyperthermia in Abitibi-Temiscamingue
-
177. Bachand M, Vachon N, Boisvert M, et al. Clinical reassessment of malignant hyperthermia in Abitibi-Temiscamingue. Can J Anaesth. 1997;44:696-701.
-
(1997)
Can J Anaesth
, vol.44
, pp. 696-701
-
-
Bachand, M.1
Vachon, N.2
Boisvert, M.3
-
178
-
-
0026526444
-
Evidence for the localization of a malignant hyperthermia susceptibility locus (MHS2) to human chromosome 17q
-
178. Levitt RC, Olckers A, Meyers S, et al. Evidence for the localization of a malignant hyperthermia susceptibility locus (MHS2) to human chromosome 17q. Genomics. 1992;14:562-566.
-
(1992)
Genomics
, vol.14
, pp. 562-566
-
-
Levitt, R.C.1
Olckers, A.2
Meyers, S.3
-
179
-
-
0026541741
-
Adult muscle sodium channel alpha-subunit is a gene candidate for malignant hyperthermia susceptibility
-
179. Olckers A, Meyers DA, Meyers S, et al. Adult muscle sodium channel alpha-subunit is a gene candidate for malignant hyperthermia susceptibility. Genomics. 1992;14:829-831.
-
(1992)
Genomics
, vol.14
, pp. 829-831
-
-
Olckers, A.1
Meyers, D.A.2
Meyers, S.3
-
180
-
-
0027279886
-
Genetic mapping of the beta 1-and gamma-subunits of the human skeletal muscle L-type voltage-dependent calcium channel on chromosome 17q and exclusion as candidate genes for malignant hyperthermia susceptibility
-
180. Iles DE, Segers B, Sengers RC, et al. Genetic mapping of the beta 1-and gamma-subunits of the human skeletal muscle L-type voltage-dependent calcium channel on chromosome 17q and exclusion as candidate genes for malignant hyperthermia susceptibility. Hum Molec Genet. 1993;2:863-868.
-
(1993)
Hum Molec Genet
, vol.2
, pp. 863-868
-
-
Iles, D.E.1
Segers, B.2
Sengers, R.C.3
-
181
-
-
0027313278
-
Exclusion of malignant hyperthermia susceptibility (MHS) from a putative MHS2 locus on chromosome 17q and of the alpha 1, beta 1, and gamma subunits of the dihydropyridine receptor calcium channel as candidates for the molecular defect
-
181. Sudbrak R, Golla A, Hogan K, et al. Exclusion of malignant hyperthermia susceptibility (MHS) from a putative MHS2 locus on chromosome 17q and of the alpha 1, beta 1, and gamma subunits of the dihydropyridine receptor calcium channel as candidates for the molecular defect. Hum Molec Genet. 1993;2:857-862.
-
(1993)
Hum Molec Genet
, vol.2
, pp. 857-862
-
-
Sudbrak, R.1
Golla, A.2
Hogan, K.3
-
182
-
-
0028243282
-
Localization of the gene encoding the alpha 2/delta-subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families
-
182. Iles DE, Lehmann-Horn F, Scherer SW, et al. Localization of the gene encoding the alpha 2/delta-subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families. Hum Molec Genet. 1994;3:969-975.
-
(1994)
Hum Molec Genet
, vol.3
, pp. 969-975
-
-
Iles, D.E.1
Lehmann-Horn, F.2
Scherer, S.W.3
-
183
-
-
8244242525
-
A genome wide search for susceptibility loci in three European malignant hyperthermia pedigrees
-
183. Robinson RL, Monnier N, Wolz W, et al. A genome wide search for susceptibility loci in three European malignant hyperthermia pedigrees. Hum Molec Genet. 1997;6:953-961.
-
(1997)
Hum Molec Genet
, vol.6
, pp. 953-961
-
-
Robinson, R.L.1
Monnier, N.2
Wolz, W.3
-
184
-
-
0028929891
-
Mapping of a further malignant hyperthermia susceptibility locus to chromosome 3q13.1
-
184. Sudbrak R, Procaccio V, Klausnitzer M, et al. Mapping of a further malignant hyperthermia susceptibility locus to chromosome 3q13.1. Am J Hum Genet. 1995;56:684-691.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 684-691
-
-
Sudbrak, R.1
Procaccio, V.2
Klausnitzer, M.3
-
185
-
-
0027965420
-
A calcium channel mutation causing hypokalemic periodic paralysis
-
185. Jurkat-Rott K, Lehmann-Horn F, Elbaz A, et al. 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
-
186
-
-
0028361074
-
Mapping of the hypokalaemic periodic paralysis. (HypoPP) locus to chromosome lq31-32 in three European families
-
186. 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. 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
-
187
-
-
0028960477
-
Skeletal muscle DHP receptor mutations alter calcium currents in human hypokalaemic periodic paralysis myotubes
-
187. Sipos I, Jurkat-Rott K, Harasztosi C, et al. Skeletal muscle DHP receptor mutations alter calcium currents in human hypokalaemic periodic paralysis myotubes. J Physiol (Lond). 1995;483:299-306.
-
(1995)
J Physiol (Lond)
, vol.483
, pp. 299-306
-
-
Sipos, I.1
Jurkat-Rott, K.2
Harasztosi, C.3
-
188
-
-
0029074169
-
Altered calcium currents in human hypokalemic periodic paralysis myotubes expressing mutant L-type calcium channels
-
188. Lehmann-Horn F, Sipos I, Jurkat-Rott K, et al. Altered calcium currents in human hypokalemic periodic paralysis myotubes expressing mutant L-type calcium channels. Soc Gen Physiol Ser. 1995;50:101-113.
-
(1995)
Soc Gen Physiol Ser
, vol.50
, pp. 101-113
-
-
Lehmann-Horn, F.1
Sipos, I.2
Jurkat-Rott, K.3
-
189
-
-
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
-
189. 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
-
190
-
-
0027468893
-
Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis
-
190. Ptacek LJ, Gouw L, Kwiecinski H, et al. Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis. Ann Neurol. 1993;33:300-307.
-
(1993)
Ann Neurol
, vol.33
, pp. 300-307
-
-
Ptacek, L.J.1
Gouw, L.2
Kwiecinski, H.3
-
191
-
-
0025107511
-
Are myotonias and periodic paralyses associated with susceptibility to malignant hyperthermia?
-
191. Lehmann-Horn F, Iaizzo PA. Are myotonias and periodic paralyses associated with susceptibility to malignant hyperthermia? Br J Anaesthes. 1990;65:692-697.
-
(1990)
Br J Anaesthes
, vol.65
, pp. 692-697
-
-
Lehmann-Horn, F.1
Iaizzo, P.A.2
-
192
-
-
0000035799
-
Central core disease. Clinical features in 13 patients
-
192. Shuaib A, Paasuke RT, Brownell KW. Central core disease. Clinical features in 13 patients. J Comp Pathol. 1987;97:597-600.
-
(1987)
J Comp Pathol
, vol.97
, pp. 597-600
-
-
Shuaib, A.1
Paasuke, R.T.2
Brownell, K.W.3
-
193
-
-
0010417531
-
Malignant hyperthermia and central core disease in a child with congenital dislocating hips
-
193. Eng GD, Epstein BS, Engel WK, et al. Malignant hyperthermia and central core disease in a child with congenital dislocating hips. Rev Neurol (Paris). 1978;134:295-302.
-
(1978)
Rev Neurol (Paris)
, vol.134
, pp. 295-302
-
-
Eng, G.D.1
Epstein, B.S.2
Engel, W.K.3
-
194
-
-
0002698066
-
Oxidative enzumes and phophorylase in central-core disease of muscle
-
194. Dubowitz V, Pearse AGE. Oxidative enzumes and phophorylase in central-core disease of muscle. Lancet. 1960:23-24.
-
(1960)
Lancet
, pp. 23-24
-
-
Dubowitz, V.1
Pearse, A.G.E.2
-
195
-
-
0010339938
-
Central core disease. A correlated genetic, histochemical, ultramicroscopic, and biochemical study
-
195. Isaacs H, Heffron JJ, Badenhorst M. Central core disease. A correlated genetic, histochemical, ultramicroscopic, and biochemical study. J Neurol Sci. 1976;27:99-116.
-
(1976)
J Neurol Sci
, vol.27
, pp. 99-116
-
-
Isaacs, H.1
Heffron, J.J.2
Badenhorst, M.3
-
196
-
-
0024562039
-
Central core disease: Ultrastructure of the sarcoplasmic reticulum and T-tubules
-
196. Hayashi K, Miller RG, Brownell AK. Central core disease: ultrastructure of the sarcoplasmic reticulum and T-tubules. Muscle Nerve. 1989;12:95-102.
-
(1989)
Muscle Nerve
, vol.12
, pp. 95-102
-
-
Hayashi, K.1
Miller, R.G.2
Brownell, A.K.3
-
197
-
-
0010380487
-
Central core disease of muscle: Clinical, histochemical and electron microscopic studies of an affected mother and child
-
197. Dubowitz V, Roy S. Central core disease of muscle: clinical, histochemical and electron microscopic studies of an affected mother and child. Neurology. 1970;20:386.
-
(1970)
Neurology
, vol.20
, pp. 386
-
-
Dubowitz, V.1
Roy, S.2
-
198
-
-
0010341717
-
Central core disease. Study of a family with five affected generations
-
198. Byrne E, Blumbergs PC, Hallpike JF. Central core disease. Study of a family with five affected generations. Nippon Rinsho. 1982;40: 1553-1559.
-
(1982)
Nippon Rinsho
, vol.40
, pp. 1553-1559
-
-
Byrne, E.1
Blumbergs, P.C.2
Hallpike, J.F.3
-
199
-
-
0010385266
-
Central core disease and malignant hyperthermia syndrome
-
199. Frank JP, Harati Y, Butler IJ, et al. Central core disease and malignant hyperthermia syndrome. Basic Res Cardiol. 1980;75:353-364.
-
(1980)
Basic Res Cardiol
, vol.75
, pp. 353-364
-
-
Frank, J.P.1
Harati, Y.2
Butler, I.J.3
-
200
-
-
0027514056
-
Refined genetic localization for central core disease
-
200. Mulley JC, Kozman HM, Phillips HA, et al. Refined genetic localization for central core disease. Am J Hum Genet. 1993;52:398-405.
-
(1993)
Am J Hum Genet
, vol.52
, pp. 398-405
-
-
Mulley, J.C.1
Kozman, H.M.2
Phillips, H.A.3
-
201
-
-
0025751590
-
Evidence for linkage of the central core disease locus to the proximal long arm of human chromosome 19
-
201. Kausch K, Lehmann-Horn F, Janka M, et al. Evidence for linkage of the central core disease locus to the proximal long arm of human chromosome 19. Genomics. 1991;10:765-769.
-
(1991)
Genomics
, vol.10
, pp. 765-769
-
-
Kausch, K.1
Lehmann-Horn, F.2
Janka, M.3
-
202
-
-
0025048773
-
The ligand binding site and transduction mechanism in the inositol-1,4,5-triphosphate receptor
-
202. Mignery GA, Sudhof TC. The ligand binding site and transduction mechanism in the inositol-1,4,5-triphosphate receptor. EMBO J. 1990;9:3893-3898.
-
(1990)
Embo J
, vol.9
, pp. 3893-3898
-
-
Mignery, G.A.1
Sudhof, T.C.2
-
203
-
-
0025876239
-
Structure-function relationships of the mouse inositol 1,4,5-triphosphate receptor
-
203. Miyawaki A, Furuichi T, Ryou Y, et al. Structure-function relationships of the mouse inositol 1,4,5-triphosphate receptor. Proc Natl Acad Sci USA. 1991;88:4911-4915.
-
(1991)
Proc Natl Acad Sci USA
, vol.88
, pp. 4911-4915
-
-
Miyawaki, A.1
Furuichi, T.2
Ryou, Y.3
-
204
-
-
0023069451
-
Intracellular calcium homeostasis
-
204. Carafoli E. Intracellular calcium homeostasis. Annu Rev Biochem. 1987;56:395-433.
-
(1987)
Annu Rev Biochem
, vol.56
, pp. 395-433
-
-
Carafoli, E.1
-
205
-
-
0017316634
-
Mitochondrial calcium overload: A general mechanism for cell-necrosis in muscle diseases
-
205. Wrogemann K, Pena SD. Mitochondrial calcium overload: a general mechanism for cell-necrosis in muscle diseases. Lancet. 1976; 1:672-674.
-
(1976)
Lancet
, vol.1
, pp. 672-674
-
-
Wrogemann, K.1
Pena, S.D.2
-
206
-
-
0030933491
-
Identification of heterozygous and homozygous individuals with the novel RYR1 mutation Cys35arg in a large kindred
-
206. Lynch PJ, Krivosic-Horber R, Reyford H, et al. Identification of heterozygous and homozygous individuals with the novel RYR1 mutation Cys35Arg in a large kindred. Anesthesiology. 1997;86: 620-626.
-
(1997)
Anesthesiology
, vol.86
, pp. 620-626
-
-
Lynch, P.J.1
Krivosic-Horber, R.2
Reyford, H.3
-
207
-
-
0028207086
-
Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: Implications for diagnosis and heterogeneity studies
-
207. Quane KA, Keating KE, Manning BM, et al. Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies. Hum Molec Genet. 1994;3:471-476.
-
(1994)
Hum Molec Genet
, vol.3
, pp. 471-476
-
-
Quane, K.A.1
Keating, K.E.2
Manning, B.M.3
-
208
-
-
0027994061
-
Mutation screening of the ryr1 gene in malignant hyperthermia: Detection of a novel Tyr to ser mutation in a pedigree with associated central cores
-
208. Quane KA, Keating KE, Healy JM, et al. Mutation screening of the RYR1 gene in malignant hyperthermia: detection of a novel Tyr to Ser mutation in a pedigree with associated central cores. Genomics. 1994;23:236-239.
-
(1994)
Genomics
, vol.23
, pp. 236-239
-
-
Quane, K.A.1
Keating, K.E.2
Healy, J.M.3
-
209
-
-
0031009547
-
Detection of a novel mutation in the ryanodine receptor gene in an Irish malignant hyperthermia pedigree: Correlation of the IVCT response with the affected and unaffected haplotypes
-
209. Keating KE, Giblin L, Lynch PJ, et al. Detection of a novel mutation in the ryanodine receptor gene in an Irish malignant hyperthermia pedigree: correlation of the IVCT response with the affected and unaffected haplotypes. J Med Genet. 1997;34:291-296.
-
(1997)
J Med Genet
, vol.34
, pp. 291-296
-
-
Keating, K.E.1
Giblin, L.2
Lynch, P.J.3
-
210
-
-
17344368549
-
Identification of novel mutations in the ryanodine receptor gene (RYR1) in malignant hyperthermia: Genotype-phenotype correlation
-
210. Manning BM, Quane KA, Ørding H, et al. 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
Ørding, H.3
-
211
-
-
0028001609
-
Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees
-
211. Keating KE, Quane KA, Manning BM, et al. Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees. Hum Molec Genet. 1994;3:1855-1858.
-
(1994)
Hum Molec Genet
, vol.3
, pp. 1855-1858
-
-
Keating, K.E.1
Quane, K.A.2
Manning, B.M.3
-
212
-
-
0031605644
-
Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia
-
212. Manning BM, Quane KA, Lynch PJ, et al. Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia. Hum Mutat. 1998;11:45-50.
-
(1998)
Hum Mutat
, vol.11
, pp. 45-50
-
-
Manning, B.M.1
Quane, K.A.2
Lynch, P.J.3
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