-
2
-
-
0002558899
-
-
Calcium as a Cellular Regulator (Klee, E.C.A.C., ed.). Oxford University Press, New York, USA
-
(1999)
, pp. 3-27
-
-
Williams, R.J.P.1
-
14
-
-
0027291158
-
A mutation in the human ryanodine receptor gene associated with central core disease
-
(1993)
Nat. Genet.
, vol.5
, pp. 46-50
-
-
Zhang, Y.1
Chen, H.S.2
De Khanna, V.K.3
Leon, S.4
Phillips, M.S.5
Schappert, K.6
Britt, B.A.7
Browell, A.K.8
MacLennan, D.H.9
-
15
-
-
0027250785
-
Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia
-
(1993)
Nat. Genet.
, vol.5
, pp. 51-55
-
-
Quane, K.A.1
Healy, J.M.2
Keating, K.E.3
Manning, B.M.4
Couch, F.J.5
Palmucci, L.M.6
Doriguzzi, C.7
Fagerlund, T.H.8
Berg, K.9
Ording, H.10
Bendixen, D.11
Mortier, W.12
Linz, U.13
Muller, C.R.14
McCarthy, T.V.15
-
17
-
-
0029819294
-
2+ ATPase, are associated with Brody disease
-
(1996)
Nat. Genet.
, vol.14
, pp. 191-194
-
-
Odermatt, A.1
Taschner, P.E.2
Khanna, V.K.3
Busch, H.F.4
Karpati, G.5
Jablecki, C.K.6
Breuning, M.H.7
MacLennan, D.H.8
-
18
-
-
0034685881
-
The transgenic expression of highly inhibitory monomeric forms of phospholamban in mouse heart impairs cardiac contractility
-
(2000)
J. Biol. Chem.
, vol.275
, pp. 14985-14991
-
-
Zvaritch, E.1
Backx, P.H.2
Jirik, F.3
De Kimura, Y.4
Leon, S.5
Schmidt, A.G.6
Hoit, B.D.7
Lester, J.W.8
Kranias, E.G.9
MacLennan, D.H.10
-
20
-
-
0032038691
-
2+ signaling in transgenic mouse cardiac myocytes overexpressing calsequestrin
-
(1998)
J. Clin. Invest.
, vol.101
, pp. 1385-1393
-
-
Jones, L.R.1
Suzuki, Y.J.2
Wang, W.3
Kobayashi, Y.M.4
Ramesh, V.5
Franzini-Armstrong, C.6
Cleemann, L.7
Morad, M.8
-
21
-
-
0033535353
-
Calreticulin is essential for cardiac development
-
(1999)
J. Cell Biol.
, vol.144
, pp. 857-868
-
-
Mesaeli, N.1
Nakamura, K.2
Zvaritch, E.3
Dickie, P.4
Dziak, E.5
Krause, K.H.6
Opas, M.7
MacLennan, D.H.8
Michalak, M.9
-
23
-
-
0002531632
-
-
Thermoregulation: Pathology, Pharmacology and Therapy (Schonbaum, E. and Lomax, P., eds),Pergamon Press Inc., New York, USA
-
(1991)
, pp. 179-292
-
-
Britt, B.A.1
-
24
-
-
0023585201
-
Etiopathogenetic defect of malignant hyperthermia: Hypersensitive calcium-release channel of skeletal muscle sarcoplasmic reticulum
-
(1987)
Vet. Res. Commun.
, vol.11
, pp. 527-559
-
-
O'Brien, P.J.1
-
30
-
-
0014713791
-
Central core disease of muscle: Clinical, histochemical and electron microscopic studies of an affected mother and child
-
(1970)
Brain
, vol.93
, pp. 133-146
-
-
Dubowitz, V.1
Roy, S.2
-
33
-
-
0033616718
-
2+ release channel function and severe central core disease
-
(1999)
Proc. Natl Acad. Sci. USA
, vol.96
, pp. 4164-4169
-
-
Lynch, P.J.1
Tong, J.2
Lehane, M.3
Mallet, A.4
Giblin, L.5
Heffron, J.J.6
Vaughan, P.7
Zafra, G.8
MacLennan, D.H.9
McCarthy, T.V.10
-
36
-
-
0025176813
-
Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia
-
(1990)
Nature
, vol.343
, pp. 559-561
-
-
MacLennan, D.H.1
Duff, C.2
Zorzato, F.3
Fujii, J.4
Phillips, M.5
Korneluk, R.G.6
Frodis, W.7
Britt, B.A.8
Worton, R.G.9
-
37
-
-
0025186845
-
Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q12-13.2
-
(1990)
Nature
, vol.343
, pp. 562-564
-
-
McCarthy, T.V.1
Healy, J.M.2
Heffron, J.J.3
Lehane, M.4
Deufel, T.5
Lehmann-Horn, F.6
Farrall, M.7
Johnson, K.8
-
40
-
-
0027514056
-
Refined genetic localization for central core disease
-
(1993)
Am. J. Hum. Genet.
, vol.52
, pp. 398-405
-
-
Mulley, J.C.1
Kozman, H.M.2
Phillips, H.A.3
Gedeon, A.K.4
McCure, J.A.5
Iles, D.E.6
Gregg, R.G.7
Hogan, K.8
Couch, F.J.9
MacLennan, D.H.10
-
41
-
-
0027291717
-
Multipoint mapping of the central core disease locus
-
(1993)
Genomics
, vol.17
, pp. 205-207
-
-
Schwemmle, S.1
Wolff, K.2
Palmucci, L.M.3
Grimm, T.4
Lehmann-Horn, F.5
Hubner, C.6
Hauser, E.7
Iles, D.E.8
MacLennan, D.H.9
Muller, C.R.10
-
43
-
-
0028284933
-
A clinical grading scale to predict malignant hyperthermia susceptibility
-
(1994)
Anesthesiology
, vol.80
, pp. 771-779
-
-
Larach, M.G.1
Localio, A.R.2
Allen, G.C.3
Denborough, M.A.4
Ellis, F.R.5
Gronert, G.A.6
Kaplan, R.F.7
Muldoon, S.M.8
Nelson, T.E.9
Ording, H.10
-
45
-
-
0021149183
-
A protocol for the investigation of malignant hyperpyrexia (MH) susceptibility
-
(1984)
Br. J. Anaesthesia.
, vol.56
, pp. 1267-1269
-
-
-
46
-
-
0024790479
-
Standardization of the caffeine halothane muscle contracture test. North american malignant hyperthermia group
-
(1989)
Anesth. Analg.
, vol.69
, pp. 511-515
-
-
Larach, M.G.1
-
47
-
-
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. The european malignant hyperthermia group
-
(1997)
Acta Anaesthesiol. Scand.
, vol.41
, pp. 955-966
-
-
Ording, H.1
Brancadoro, V.2
Cozzolino, S.3
Ellis, F.R.4
Glauber, V.5
Gonano, E.F.6
Halsall, P.J.7
Hartung, E.8
Heffron, J.J.9
Heytens, L.10
Kozak-Ribbens, G.11
Kress, H.12
Krivosic-Horber, R.13
Lehmann-Horn, F.14
Mortier, W.15
Nivoche, Y.16
Ranklev-Twetman, E.17
Sigurdsson, S.18
Snoeck, M.19
Stieglitz, P.20
Tegazzin, V.21
Urwyler, V.22
Wappler, F.23
more..
-
48
-
-
0031951496
-
The sensitivity and specificity of the caffeine-halothane contracture test: A report from the north american malignant hyperthermia registry. The north american malignant hyperthermia registry of MHAUS
-
(1998)
Anesthesiology
, vol.88
, pp. 579-588
-
-
Allen, G.C.1
Larach, M.G.2
Kunselman, A.R.3
-
51
-
-
0029016252
-
Masseter muscle rigidity associated with glycine1306-to-alanine mutation in the adult muscle sodium channel alpha-subunit gene
-
(1995)
Anesthesiology
, vol.82
, pp. 1097-1103
-
-
Vita, G.M.1
Olckers, A.2
Jedlicka, A.E.3
George, A.L.4
Heiman-Patterson, T.5
Rosenberg, H.6
Fletcher, J.E.7
Levitt, R.C.8
-
52
-
-
8244242525
-
A genome wide search for susceptibility loci in three european malignant hyperthermia pedigrees
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 953-961
-
-
Robinson, R.L.1
Monnier, N.2
Wolz, W.3
Jung, M.4
Reis, A.5
Nuernberg, G.6
Curran, J.L.7
Monsieurs, K.8
Stieglitz, P.9
Heytens, L.10
Fricker, R.11
Van Broeckhoven, C.12
Deufel, T.13
Hopkins, P.M.14
Lunardi, J.15
Mueller, C.R.16
-
54
-
-
0037542224
-
-
Molecular Biology of Membrane Transport Disorders (Schultz, S.G., Andreoli, T., Brown, A.M., Fambrough, D., Hoffman, J. and Welsh, M.J., eds) Plenum Publishing Corp, New York, USA
-
(1996)
, pp. 181-200
-
-
MacLennan, D.H.1
Phillips, M.S.2
Zhang, Y.3
-
57
-
-
0014689574
-
Muscle contracture induced by exercise. A syndrome attributable to decreased relaxing factor
-
(1969)
N. Engl. J. Med.
, vol.281
, pp. 187-192
-
-
Brody, I.A.1
-
58
-
-
0029620491
-
2+- ATPase of human fast-twitch skeletal muscle sarcoplasmic reticulum, and its elimination as a candidate gene for Brody disease
-
(1995)
Genomics
, vol.30
, pp. 415-424
-
-
Zhang, Y.1
Fujii, J.2
Phillips, M.S.3
Chen, H.S.4
Karpati, G.5
Yee, W.C.6
Schrank, B.7
Cornblath, D.R.8
Boylan, K.B.9
MacLennan, D.H.10
-
63
-
-
0028167646
-
2+ homeostasis in Brody's disease. A study in skeletal muscle and cultured muscle cells and the effects of dantrolene an verapamil
-
(1994)
J. Clin. Invest.
, vol.94
, pp. 741-748
-
-
Benders, A.A.1
Veerkamp, J.H.2
Oosterhof, A.3
Jongen, P.J.4
Bindels, R.J.5
Smit, L.M.6
Busch, H.F.7
Wevers, R.A.8
-
64
-
-
0031281867
-
Characterization of the gene encoding human sarcolipin (SLN), a proteolipid associated with SERCA1: Absence of structural mutations in five patients with Brody disease
-
(1997)
Genomics
, vol.45
, pp. 541-553
-
-
Odermatt, A.1
Taschner, P.E.2
Scherer, S.W.3
Beatty, B.4
Khanna, V.K.5
Comblath, D.R.6
Chaudhry, V.7
Yee, W.C.8
Schrank, B.9
Karpati, G.10
Breuning, M.H.11
Knoers, N.12
MacLennan, D.H.13
-
66
-
-
0027932798
-
Targeted ablation of the phospholamban gene is associated with markedly enhanced myocardial contractility and loss of beta-agonist stimulation
-
(1994)
Circ. Res.
, vol.75
, pp. 401-409
-
-
Luo, W.1
Grupp, I.L.2
Harrer, J.3
Ponniah, S.4
Grupp, G.5
Duffy, J.J.6
Doetschman, T.7
Kranias, E.G.8
-
74
-
-
0030905733
-
2+ pump and phospholamban in Spodoptera frugiperda (Sf21) cells reveals new insights on ATPase regulation
-
(1997)
J. Biol. Chem.
, vol.272
, pp. 15872-15880
-
-
Autry, J.M.1
Jones, L.R.2
-
76
-
-
0033618427
-
2+ channel in transgenic mice. Loss of isoproterenol-induced contraction
-
(1999)
J. Biol. Chem.
, vol.274
, pp. 21503-21506
-
-
Muth, J.N.1
Yamaguchi, H.2
Mikala, G.3
Grupp, I.L.4
Lewis, W.5
Cheng, H.6
Song, L.S.7
Lakatta, E.G.8
Varadi, G.9
Schwartz, A.10
-
78
-
-
0032540267
-
A calcineurin-dependent transcriptional pathway for cardiac hypertrophy
-
(1998)
Cell
, vol.93
, pp. 215-228
-
-
Molkentin, J.D.1
Lu, J.R.2
Antos, C.L.3
Markham, B.4
Richardson, J.5
Robbins, J.6
Grant, S.R.7
Olson, E.N.8
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