-
1
-
-
0034044116
-
Malignant hyperthermia. Advances in clinical management and diagnosis
-
Hopkins PM. Malignant hyperthermia. Advances in clinical management and diagnosis. Br J Anaesth 2000;85:118-28
-
(2000)
Br. J. Anaesth.
, vol.85
, pp. 118-128
-
-
Hopkins, P.M.1
-
2
-
-
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 lowrisk subjects
-
Ording H, Brancadoro V, Cozzolino S, Ellis FR, Glauber V, Gonano EF, Halsall PJ, Hartung E, Heffron JJ, Heytens L, Kozak-Ribbens G, Kress H, Krivosic-Horber R, Lehmann-Horn F, Mortier W, Nivoche Y, Ranklev-Twetman E, Sigurdsson S, Snoeck M, Stiegliz M, Tegazzin V, Urwuyler A, Wappler F. 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 lowrisk subjects. The European Malignant Hyperthermia group. Acta Anaesthesiol Scand 1997;41:955-66
-
(1997)
The European Malignant Hyperthermia Group. 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
Stiegliz, M.20
Tegazzin, V.21
Urwuyler, A.22
Wappler, F.23
more..
-
3
-
-
0346690056
-
Central core disease: Clinical, pathological, and genetic features
-
Quinlivan RM, Müller C, Davis M, Laing NG, Evans GA, Dove J, Roberts AP, Sewry CA. Central core disease: clinical, pathological, and genetic features. Arch Dis Child 2003;88:1051-5
-
(2003)
Arch. Dis. Child
, vol.88
, pp. 1051-1055
-
-
Quinlivan, R.M.1
Müller, C.2
Davis, M.3
Laing, N.G.4
Evans, G.A.5
Dove, J.6
Roberts, A.P.7
Sewry, C.A.8
-
4
-
-
44649184084
-
Congenital muscle disorders with cores: The ryanodine receptor calcium channel paradigm
-
Treves S, Jungbluth H, Muntoni F, Zorzato F. Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm. Curr Opin Pharmacol 2008;8:319-26
-
(2008)
Curr. Opin. Pharmacol.
, vol.8
, pp. 319-326
-
-
Treves, S.1
Jungbluth, H.2
Muntoni, F.3
Zorzato, F.4
-
5
-
-
33748997392
-
Mutations in RYR1 in malignant hyperthermia and central core disease
-
Robinson R, Carpenter D, Shaw MA, Halsall J, Hopkins P. Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat 2006;27:977-89
-
(2006)
Hum. Mutat
, vol.27
, pp. 977-989
-
-
Robinson, R.1
Carpenter, D.2
Shaw, M.A.3
Halsall, J.4
Hopkins, P.5
-
6
-
-
23744481030
-
Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders
-
Treves S, Anderson AA, Ducreux S, Divet A, Bleunven C, Grasso C, Paesante S, Zorzato F. Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders. Neuromuscul Disord 2005;15:577-87
-
(2005)
Neuromuscul Disord.
, vol.15
, pp. 577-587
-
-
Treves, S.1
Anderson, A.A.2
Ducreux, S.3
Divet, A.4
Bleunven, C.5
Grasso, C.6
Paesante, S.7
Zorzato, F.8
-
7
-
-
0023069451
-
Intracellular calcium homeostasis
-
Carafoli E. Intracellular calcium homeostasis. Ann Rev Biochem 1987;56:395-433
-
(1987)
Ann. Rev. Biochem.
, vol.56
, pp. 395-433
-
-
Carafoli, E.1
-
10
-
-
33744955800
-
Sarcoplasmic reticulum: The dynamic calcium governor of muscle
-
Rossi AE, Dirksen RT. Sarcoplasmic reticulum: the dynamic calcium governor of muscle. Muscle Nerve 2006;33:715-31
-
(2006)
Muscle Nerve
, vol.33
, pp. 715-731
-
-
Rossi, A.E.1
Dirksen, R.T.2
-
11
-
-
27444438087
-
Novel sarco (endo) plasmic reticulum proteins and calcium homeostasis in striated muscles
-
Divet A, Paesante S, Bleuven C, Anderson A, Treves S, Zorzato F. Novel sarco (endo) plasmic reticulum proteins and calcium homeostasis in striated muscles. J Muscle Res Cell Motil 2005;26:7-12
-
(2005)
J. Muscle Res. Cell. Motil
, vol.26
, pp. 7-12
-
-
Divet, A.1
Paesante, S.2
Bleuven, C.3
Anderson, A.4
Treves, S.5
Zorzato, F.6
-
12
-
-
0032559585
-
Role of ryanodine receptors in the assembly of calcium release units in skeletal muscle
-
Protasi F, Franzini-Armstrong C, Allen PD. Role of ryanodine receptors in the assembly of calcium release units in skeletal muscle. J Cell Biol 1998;140:831-42
-
(1998)
J. Cell. Biol.
, vol.140
, pp. 831-842
-
-
Protasi, F.1
Franzini-Armstrong, C.2
Allen, P.D.3
-
13
-
-
27644532060
-
Correlations between genotype and pharmacological, histological, functional and clinical phenotypes in malignant hyperthermia susceptibility
-
Monnier N, Kozak-Ribbens G, Krivosic-Horber R, Nivoche Y, Qi D, Kraev N, Loke J, Sharma P, Tegazzin V, Figarella-Branger D, Romero N, Mezin P, Bendahan D, Payen JF, Depret T, Maclennan DH, Lunardi J. Correlations between genotype and pharmacological, histological, functional and clinical phenotypes in malignant hyperthermia susceptibility. Hum Mutat 2005;26:413-25
-
(2005)
Hum. Mutat
, vol.26
, pp. 413-425
-
-
Monnier, N.1
Kozak-Ribbens, G.2
Krivosic-Horber, R.3
Nivoche, Y.4
Qi, D.5
Kraev, N.6
Loke, J.7
Sharma, P.8
Tegazzin, V.9
Figarella-Branger, D.10
Romero, N.11
Mezin, P.12
Bendahan, D.13
Payen, J.F.14
Depret, T.15
Maclennan, D.H.16
Lunardi, J.17
-
14
-
-
0033605332
-
Skeletal muscle type ryanodine receptor is involved in calcium signaling in human B lymphocytes
-
Sei Y, Gallagher KL, Basile AS. Skeletal muscle type ryanodine receptor is involved in calcium signaling in human B lymphocytes. J Biol Chem 1999;274:5995-6002
-
(1999)
J. Biol. Chem.
, vol.274
, pp. 5995-6002
-
-
Sei, Y.1
Gallagher, K.L.2
Basile, A.S.3
-
15
-
-
0035930557
-
B-lymphocytes from malignant hyperthermia-susceptible patients have an increased sensitivity to skeletal muscle ryanodine receptor activators
-
Girard T, Cavagna D, Padovan E, Spagnoli G, Urwuyler A, Zorzato F, Treves S. B-lymphocytes from malignant hyperthermia-susceptible patients have an increased sensitivity to skeletal muscle ryanodine receptor activators. J Biol Chem 2001;276:48077-82
-
(2001)
J. Biol. Chem.
, vol.276
, pp. 48077-48082
-
-
Girard, T.1
Cavagna, D.2
Padovan, E.3
Spagnoli, G.4
Urwuyler, A.5
Zorzato, F.6
Treves, S.7
-
16
-
-
66149137664
-
Mutation screening of the RYR1-cDNA from peripheral B lymphocytes in 15 Swedish malignant hyperthermia index cases
-
Broman M, Gehrig A, Bodelsson M, Ranklev-Twetman E, Ruffert H, Müller C. Mutation screening of the RYR1-cDNA from peripheral B lymphocytes in 15 Swedish malignant hyperthermia index cases. Br J Anaesth 2009;102:642-9
-
(2009)
Br. J. Anaesth.
, vol.102
, pp. 642-649
-
-
Broman, M.1
Gehrig, A.2
Bodelsson, M.3
Ranklev-Twetman, E.4
Ruffert, H.5
Müller, C.6
-
17
-
-
0028284933
-
A clinical grading scale to predict malignant hyperthermia susceptibility
-
Larach MG, Localio AR, Allen GC, Denborough MA, Ellis R, Gronert GA, Kaplan RF, Muldoon SM, Nelson TE, Ording H. A clinical grading scale to predict malignant hyperthermia susceptibility. Anesthesiology 1994;80:771-9
-
(1994)
Anesthesiology
, vol.80
, pp. 771-779
-
-
Larach, M.G.1
Localio, A.R.2
Allen, G.C.3
Denborough, M.A.4
Ellis, R.5
Gronert, G.A.6
Kaplan, R.F.7
Muldoon, S.M.8
Nelson, T.E.9
Ording, H.10
-
18
-
-
0035660572
-
Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: Association with central core disease and alteration of calcium homeostasis
-
Tilgen N, Zorzato F, Halliger-Keller B, Muntoni F, Sewry C, Palmucci LM, Schneider C, Hauser E, Lehmann-Horn F, Müller CR, Treves S. Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis. Hum Mol Genet 2001;10:2879-87
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 2879-2887
-
-
Tilgen, N.1
Zorzato, F.2
Halliger-Keller, B.3
Muntoni, F.4
Sewry, C.5
Palmucci, L.M.6
Schneider, C.7
Hauser, E.8
Lehmann-Horn, F.9
Müller, C.R.10
Treves, S.11
-
19
-
-
33744956995
-
Characterization of ryanodine receptor-mediated calcium release in human B cells: Relevance to diagnostic testing for malignant hyperthermia
-
McKinney LC, Butler T, Mullen SP, Klein MG. Characterization of ryanodine receptor-mediated calcium release in human B cells: relevance to diagnostic testing for malignant hyperthermia. Anesthesiology 2006;104:1191-1201
-
(2006)
Anesthesiology
, vol.104
, pp. 1191-1201
-
-
McKinney, L.C.1
Butler, T.2
Mullen, S.P.3
Klein, M.G.4
-
22
-
-
33745085922
-
Central core disease is due to RYR1 mutations in more than 90% of patients
-
Wu S, Ibarra MC, Mclicdan MC, Murayama K, Ichihara Y, Kikuchi H, Nonaka I, Noguchi S, Hayashi YK, Nishino I. Central core disease is due to RYR1 mutations in more than 90% of patients. Brain 2006;129:1470-80
-
(2006)
Brain
, vol.129
, pp. 1470-1480
-
-
Wu, S.1
Ibarra, M.C.2
Mclicdan, M.C.3
Murayama, K.4
Ichihara, Y.5
Kikuchi, H.6
Nonaka, I.7
Noguchi, S.8
Hayashi, Y.K.9
Nishino, I.10
-
23
-
-
43149117654
-
Neuromuscular and mitochondrial disorders: What is relevant to the anaesthesiologist?
-
Driessen J. Neuromuscular and mitochondrial disorders: what is relevant to the anaesthesiologist? Curr Opin Anaesthesiol 2008;21:350-5
-
(2008)
Curr. Opin. Anaesthesiol
, vol.21
, pp. 350-355
-
-
Driessen, J.1
-
24
-
-
6344278673
-
Effect of ryanodine receptor mutations on IL-6 release and intracellular calcium homeostasis in human myotubes from malignant hyperthermia susceptible individuals and patients affected by central core disease
-
Ducreaux S, Zorzato F, Müller CR, Sewry C, Muntoni F, Quinlivan R, Restagno G, Girard T, Treves S. Effect of ryanodine receptor mutations on IL-6 release and intracellular calcium homeostasis in human myotubes from malignant hyperthermia susceptible individuals and patients affected by central core disease. J Biol Chem 2004;279:43838-46
-
(2004)
J. Biol. Chem.
, vol.279
, pp. 43838-43846
-
-
Ducreaux, S.1
Zorzato, F.2
Müller, C.R.3
Sewry, C.4
Muntoni, F.5
Quinlivan, R.6
Restagno, G.7
Girard, T.8
Treves, S.9
-
25
-
-
33645796192
-
Functional properties of ryanodine receptors carrying 3 amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalised lymphocytes
-
Ducreux S, Zorzato F, Ferreiro A, Jungbluth H, Muntoni F, Monnier N, Müller CR, Treves S. Functional properties of ryanodine receptors carrying 3 amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalised lymphocytes. Biochem J 2006;395:259-66
-
(2006)
Biochem. J.
, vol.395
, pp. 259-266
-
-
Ducreux, S.1
Zorzato, F.2
Ferreiro, A.3
Jungbluth, H.4
Muntoni, F.5
Monnier, N.6
Müller, C.R.7
Treves, S.8
-
26
-
-
38549167375
-
Identification and biochemical characterization of a novel ryanodine receptor gene mutation associated with malignant hyperthermia
-
Anderson AA, Brown RL, Polster B, Pollock N, Stowell KM. Identification and biochemical characterization of a novel ryanodine receptor gene mutation associated with malignant hyperthermia. Anesthesiology 2008;108:208-15
-
(2008)
Anesthesiology
, vol.108
, pp. 208-215
-
-
Anderson, A.A.1
Brown, R.L.2
Polster, B.3
Pollock, N.4
Stowell, K.M.5
-
27
-
-
33845932952
-
Two central core disease (CCD) deletions in the C-terminal region of RYR1 alter muscle EC coupling by distinct mechanisms
-
Lyfenko AD, Ducreux S, Wang Y, Xu L, Zorzato F, Ferreiro A, Meissner G, Treves S, Dirksen RT. Two central core disease (CCD) deletions in the C-terminal region of RYR1 alter muscle EC coupling by distinct mechanisms. Hum Mutat 2007;28:61-8
-
(2007)
Hum. Mutat
, vol.28
, pp. 61-68
-
-
Lyfenko, A.D.1
Ducreux, S.2
Wang, Y.3
Xu, L.4
Zorzato, F.5
Ferreiro, A.6
Meissner, G.7
Treves, S.8
Dirksen, R.T.9
-
28
-
-
63749119748
-
Increasing the number of diagnostic mutations in malignant hyperthermia
-
Levano S, Vukcevic M, Singer M, Matter A, Treves S, Urwuyler A, Girard T. Increasing the number of diagnostic mutations in malignant hyperthermia. Hum Mutat 2009;30:590-8
-
(2009)
Hum. Mutat
, vol.30
, pp. 590-598
-
-
Levano, S.1
Vukcevic, M.2
Singer, M.3
Matter, A.4
Treves, S.5
Urwuyler, A.6
Girard, T.7
-
29
-
-
4544330774
-
Functional analysis of the R1068H malignant hyperthermia mutation in the DHPR reveals an unexpected influence of the III-IV loop on skeletal muscle EC coupling
-
Weiss R, O'Connell K, Flucher B, Allen P, Grabner M, Dirksen R. Functional analysis of the R1068H malignant hyperthermia mutation in the DHPR reveals an unexpected influence of the III-IV loop on skeletal muscle EC coupling. Am J Physiol Cell Physiol 2004;287:1094-102
-
(2004)
Am. J. Physiol. Cell. Physiol.
, vol.287
, pp. 1094-1102
-
-
Weiss, R.1
O'Connell, K.2
Flucher, B.3
Allen, P.4
Grabner, M.5
Dirksen, R.6
-
30
-
-
0035145133
-
Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia
-
Urwyler A, Deufel T, McCarthy T, West S. Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia. Br J Anaesth 2001;86:283-7
-
(2001)
Br. J. Anaesth.
, vol.86
, pp. 283-287
-
-
Urwyler, A.1
Deufel, T.2
McCarthy, T.3
West, S.4
|