-
2
-
-
0023818423
-
2+] during a malignant hyperthemria episode in swine
-
2+] during a malignant hyperthemria episode in swine Muscle and Nerve 1988 11 1 82-88 2. López JR, Allen PD, Alamo L, Jones D, Sreter FA. Myoplasmic free [Ca2+] during a malignant hyperthermia episode in swine. Muscle Nerve 1988; 11: 82-8. (Pubitemid 18030672)
-
(1988)
Muscle and Nerve
, vol.11
, Issue.1
, pp. 82-88
-
-
Lopez, J.R.1
Allen, P.D.2
Alamo, L.3
Jones, D.4
Sreter, F.A.5
-
3
-
-
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
-
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. The North American Malignant Hyperthermia Registry of MHAUS. Anesthesiology 1998; 88: 579-88.
-
(1998)
Anesthesiology
, vol.88
, pp. 579-588
-
-
Allen, G.C.1
Larach, M.G.2
Kunselman, A.R.3
-
4
-
-
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
-
Ording H, Brancadoro V, Cozzolino S, Ellis FR, Glauber V, Gonano EF, 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. The European Malignant Hyperthermia Group. Acta Anaesthesiol Scand 1997; 41: 955-66.
-
(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
-
5
-
-
0025176813
-
Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia
-
DOI 10.1038/343559a0
-
MacLennan D.H. Duff C. Zorzato F. Fujii J. Phillips M. Korneluk R.G. Frodis W. Britt B.A. Worton R.G. Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia Nature 1990 343 6258 559-561 DOI 10.1038/343559a0 5. MacLennan DH, Duff C, Zorzato F, Fujii J, Phillips M, Korneluk RG, et al. Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia. Nature 1990; 343: 559-61. (Pubitemid 20042716)
-
(1990)
Nature
, vol.343
, Issue.6258
, 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
-
6
-
-
0027291717
-
Multipoint mapping of the central core disease locus
-
DOI 10.1006/geno.1993.1302
-
Schwemmle S. Wolff K. Palmucci L.M. Grimm T. Lehmann-Horn F. Hubner C. Hauser E. Iles D.E. MacLennan D.H. Muller C.R. Multipoint mapping of the central core disease locus Genomics 1993 17 1 205-207 DOI 10.1006/geno.1993.1302 6. Schwemmle S, Wolff K, Palmucci LM, Grimm T, Lehmann-Horn F, Hubner Q et aL Multipoint mapping of the central core disease locus. Genomics 1993; 17: 205-7. (Pubitemid 23205077)
-
(1993)
Genomics
, vol.17
, Issue.1
, 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
-
7
-
-
0027250785
-
Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia
-
Quane KA, Healy JM Keating KE, Manning BM Couch FJ, Palmucci LM et al. Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia. Nat Genet 1993; 5: 51-5.
-
(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
-
8
-
-
0026662792
-
Polymorphisms and deduced amino add substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia
-
Gillard EF, Otsu K Fujii J, Duff C, de Leon S, Khanna VK, et al. Polymorphisms and deduced amino add substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia. Genomics 1992; 13: 1247-54.
-
(1992)
Genomics
, vol.13
, pp. 1247-1254
-
-
Gillard, E.F.1
Otsu, K.2
Fujii, J.3
Duff, C.4
De Leon, S.5
Khanna, V.K.6
-
9
-
-
0027291158
-
A mutation in the human ryanodine receptor gene associated with central core disease
-
DOI 10.1038/ng0993-46
-
Zhang Y. Hai Shiene Chen Khanna V.K. De Leon S. Phillips M.S. Schappert K. Britt B.A. Brownell A.K.W. MacLennan D.H. A mutation in the human ryanodine receptor gene associated with central core disease Nature Genetics 1993 5 1 46-50 DOI 10.1038/ng0993-46 9. Zhang Y, Chen HS, Khanna VK, De Leon S, Phillips MS, Schappert K, et al. A mutation in the human ryanodine receptor gene associated with central core disease. Nat Genet 1993; 5: 46-50. (Pubitemid 23261517)
-
(1993)
Nature Genetics
, vol.5
, Issue.1
, pp. 46-50
-
-
Zhang, Y.1
Hai, S.C.2
Khanna, V.K.3
De Leon, S.4
Phillips, M.S.5
Schappert, K.6
Britt, B.A.7
Brownell, A.K.W.8
MacLennan, D.H.9
-
10
-
-
0026526444
-
Evidence for the localization of a malignant hyperthermia susceptibility locus (MHS2) to human chromosome 17q
-
Levitt RC, Olckers A, Meyers S, Fletcher JE, Rosenberg H, Isaacs H, et al. Evidence for the localization of a malignant hyperthermia susceptibility locus (MHS2) to human chromosome 17q. Genomics 1992; 14: 562-6.
-
(1992)
Genomics
, vol.14
, pp. 562-566
-
-
Levitt, R.C.1
Olckers, A.2
Meyers, S.3
Fletcher, J.E.4
Rosenberg, H.5
Isaacs, H.6
-
11
-
-
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
-
Iles DE, Lehmann-Horn F, Scherer SW, Tsui LC, Olde Weghuis D, Suijkerbuijk RF, 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 Mol Genet 1994; 3: 969-75.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 969-975
-
-
Iles, D.E.1
Lehmann-Horn, F.2
Scherer, S.W.3
Tsui, L.C.4
Olde Weghuis, D.5
Suijkerbuijk, R.F.6
-
12
-
-
0028929891
-
Mapping of a further malignant hyperthermia susceptibility locus to chromosome 3q13.1
-
Sudbrak R, Procaccio V, Klausnitzer M, Curran JL, Monsieurs K, van Broeckhoven C, et al. Mapping of a further malignant hyperthermia susceptibility locus to chromosome 3q13.1. Am J Hum Genet 1995; 56: 684-91.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 684-691
-
-
Sudbrak, R.1
Procaccio, V.2
Klausnitzer, M.3
Curran, J.L.4
Monsieurs, K.5
Van Broeckhoven, C.6
-
13
-
-
0027532167
-
2+ channel (CACNL1A3) to chromosome 1q31-q32
-
DOI 10.1006/geno.1993.1017
-
2+ channel (CACNL1A3) to chromosome 1q31-q32 Genomics 1993 15 1 107-112 DOI 10.1006/geno.1993.1017 13. Gregg RG, Couch F, Hogan K, Powers PA. Assignment of the human gene for the alpha 1 subunit of the skeletal muscle DHP-sensitive Ca2+ channel (CACNL1A3) to chromosome 1q31-q32. Genomics 1993; 15: 107-12. (Pubitemid 23079578)
-
(1993)
Genomics
, vol.15
, Issue.1
, pp. 107-112
-
-
Gregg, R.G.1
Couch, F.2
Hogan, K.3
Powers, P.A.4
-
14
-
-
0033782713
-
Multiple interacting gene products may influence susceptibility to malignant hyperthermia
-
Robinson RL, Curran JL, Ellis FR, Halsall PJ, Hall WJ, Hopkins PM, et al. Multiple interacting gene products may influence susceptibility to malignant hyperthermia. Ann Hum Genet 2000; 64: 307-20.
-
(2000)
Ann Hum Genet
, vol.64
, pp. 307-320
-
-
Robinson, R.L.1
Curran, J.L.2
Ellis, F.R.3
Halsall, P.J.4
Hall, W.J.5
Hopkins, P.M.6
-
15
-
-
8244242525
-
A genome wide search for susceptibility loci in three European malignant hyperthermia pedigrees
-
Robinson RL, Monnier N, Wolz W, Jung M, Reis A, Nuernberg G, et al. A genome wide search for susceptibility loci in three European malignant hyperthermia pedigrees. Hum Mol Genet 1997; 6: 953-61.
-
(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
-
16
-
-
4444357468
-
Ryanodine receptor defects in muscle genetic diseases
-
Brini M. Ryanodine receptor defects in muscle genetic diseases. Biochem Biophys Res Commun 2004; 322: 1245-55.
-
(2004)
Biochem Biophys Res Commun
, vol.322
, pp. 1245-1255
-
-
Brini, M.1
-
18
-
-
24644455527
-
Ryanodine receptors
-
Hamilton SL. Ryanodine receptors. Cell Calcium 2005; 38: 253-60.
-
(2005)
Cell Calcium
, vol.38
, pp. 253-260
-
-
Hamilton, S.L.1
-
19
-
-
0032859882
-
Ryanodine receptor isoforms in excitation-contraction coupling
-
Ogawa Y, Kurebayashi N, Murayama T. Ryanodine receptor isoforms in excitation-contraction coupling. Adv Biophys 1999; 36: 2764.
-
(1999)
Adv Biophys
, vol.36
, pp. 2764
-
-
Ogawa, Y.1
Kurebayashi, N.2
Murayama, T.3
-
20
-
-
0030006962
-
The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene
-
Phillips MS, Fujii J, Khanna VK, DeLeon S, Yokobata K, de Jong PJ, 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
Deleon, S.4
Yokobata, K.5
De Jong, P.J.6
-
21
-
-
0034087446
-
Ryanodine receptor mutations in malignant hyperthermia and central core disease
-
McCarthy TV, Quane KA, Lynch PJ. Ryanodine receptor mutations in malignant hyperthermia and central core disease. Hum Mutat 2000; 15: 410-7.
-
(2000)
Hum Mutat
, vol.15
, pp. 410-417
-
-
McCarthy, T.V.1
Quane, K.A.2
Lynch, P.J.3
-
22
-
-
33744959480
-
Malignant hyperthermia in Japan: Mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing
-
DOI 10.1097/00000542-200606000-00008, PII 0000054220060600000008
-
Ibarra M C.A. Wu S. Murayama K. Minami N. Ichihara Y. Kikuchi H. Noguchi S. Hayashi Y.K. Ochiai R. Nishino I. Malignant hyperthermia in Japan: Mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing Anesthesiology 2006 104 6 1146-1154 DOI 10.1097/00000542-200606000- 00008, PII 0000054220060600000008 22. Ibarra MC, Wu S, Murayama K, Minami N, Ichihara Y, Kikuchi H, et al. Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing. Anesthesiology 2006; 104: 1146-54. (Pubitemid 43852946)
-
(2006)
Anesthesiology
, vol.104
, Issue.6
, pp. 1146-1154
-
-
Ibarra, M.C.A.1
Wu, S.2
Murayama, K.3
Minami, N.4
Ichihara, Y.5
Kikuchi, H.6
Noguchi, S.7
Hayashi, Y.K.8
Ochiai, R.9
Nishino, I.10
-
23
-
-
33846004178
-
Genetics of malignant hyperthermia
-
Brandom BW. Genetics of malignant hyperthermia. Scientific World Journal 2006; 6: 1722-30.
-
(2006)
Scientific World Journal
, vol.6
, pp. 1722-1730
-
-
Brandom, B.W.1
-
24
-
-
0035145133
-
Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia
-
DOI 10.1093/bja/86.2.283
-
Urwyler A. Deufel T. McCarthy T. West S. Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia British Journal of Anaesthesia 2001 86 2 283-287 DOI 10.1093/bja/86.2.283 24. 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. (Pubitemid 32103424)
-
(2001)
British Journal of Anaesthesia
, vol.86
, Issue.2
, pp. 283-287
-
-
Urwyler, A.1
Deufel, T.2
McCarthy, T.3
West, S.4
-
25
-
-
1442290117
-
Malignant hyperthermia genetic testing in North America Working Group Meeting
-
Bethesda, Maryland. September 4-5, 2001
-
Sei Y, Sambuughin N, Muldoon S. Malignant hyperthermia genetic testing in North America Working Group Meeting. Bethesda, Maryland. September 4-5, 2001 Anesthesiology 2004; 100: 464-5.
-
(2004)
Anesthesiology
, vol.100
, pp. 464-465
-
-
Sei, Y.1
Sambuughin, N.2
Muldoon, S.3
-
26
-
-
78651302420
-
Identification of G7304A mutation in the ryanodine receptor type 1 gene in a patient with malignant hyperthermia and an extended pedigree study in a Korean malignant hyperthermia family
-
Kim DC and Kim DS. Identification of G7304A mutation in the ryanodine receptor type 1 gene in a patient with malignant hyperthermia and an extended pedigree study in a Korean malignant hyperthermia family. Korean J Anesthesiol 2003; 44: 56-64.
-
(2003)
Korean J Anesthesiol
, vol.44
, pp. 56-64
-
-
Kim, D.C.1
Kim, D.S.2
-
27
-
-
0034849743
-
North American malignant hyperthermia population: Screening of the ryanodine receptor gene and identification of novel mutations
-
Sambuughin N, Sei Y, Gallagher KL, Wyre HW, Madsen D, Nelson TE, et al. North American malignant hyperthermia population: screening of the ryanodine receptor gene and identification of novel mutations. Anesthesiology 2001; 95: 594-9.
-
(2001)
Anesthesiology
, vol.95
, pp. 594-599
-
-
Sambuughin, N.1
Sei, Y.2
Gallagher, K.L.3
Wyre, H.W.4
Madsen, D.5
Nelson, T.E.6
-
28
-
-
14644397272
-
Screening of the entire ryanodine receptor type 1 coding region for sequence variants associated with malignant hyperthermia susceptibility in the North American population
-
DOI 10.1097/00000542-200503000-00007
-
Sambuughin N. Holley H. Muldoon S. Brandom B.W. De Bantel A.M. Tobin J.R. Nelson T.E. Goldfarb L.G. Screening of the entire ryanodine receptor type 1 coding region for sequence variants associated with malignant hyperthermia susceptibility in the North American population Anesthesiology 2005 102 3 515-521 DOI 10.1097/00000542-200503000-00007 28. Sambuughin N, Holley H, Muldoon S, Brandom BW, de Bantel AM, Tobin JR, et al. Screening of the entire ryanodine receptor type 1 coding region for sequence variants associated with malignant hyperthermia susceptibility in the north american population. Anesthesiology 2005; 102: 515-21. (Pubitemid 40315139)
-
(2005)
Anesthesiology
, vol.102
, Issue.3
, pp. 515-521
-
-
Sambuughin, N.1
Holley, H.2
Muldoon, S.3
Brandom, B.W.4
De Bantel, A.M.5
Tobin, J.R.6
Nelson, T.E.7
Goldfarb, L.G.8
-
29
-
-
0042463619
-
Protocol for the sequence analysis of ryanodine receptor subtype 1 gene transcripts from human leukocytes
-
DOI 10.1097/00000542-200308000-00010
-
Kraev N. Loke J.C.P. Kraev A. MacLennan D.H. Protocol for the sequence analysis of ryanodine receptor subtype 1 gene transcripts from human leukocytes Anesthesiology 2003 99 2 289-296 DOI 10.1097/00000542-200308000-00010 29. Kraev N, Loke JQ Kraev A, MacLennan DR Protocol for the sequence analysis of ryanodine receptor subtype 1 gene transcripts from human leukocytes. Anesthesiology 2003; 99: 289-96. (Pubitemid 36909554)
-
(2003)
Anesthesiology
, vol.99
, Issue.2
, pp. 289-296
-
-
Kraev, N.1
Loke, J.C.P.2
Kraev, A.3
MacLennan, D.H.4
-
30
-
-
23744481030
-
Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders
-
DOI 10.1016/j.nmd.2005.06.008, PII S0960896605001823
-
Treves S. Anderson A.A. Ducreux S. Divet A. Bleunven C. Grasso C. Paesante S. Zorzato F. Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders Neuromuscular Disorders 2005 15 9 10 577-587 DOI 10.1016/j.nmd.2005.06.008, PII S0960896605001823 30. Treves S, Anderson AA, Ducreux S, Divet A, Bleunven C, Grasso C, et al. Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders. Neuromuscul Disord 2005; 15: 577-87. (Pubitemid 41139189)
-
(2005)
Neuromuscular Disorders
, vol.15
, Issue.9-10
, 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
-
31
-
-
0347354996
-
Multiminicore disease in a family susceptible to malignant hyperthermia: Histology, in vitro contracture tests, and genetic characterization
-
Guis S, Figarella-Branger D, Monnier N, Bendahan D, Kozak-Ribbens G, Mattei JP, et al. Multiminicore disease in a family susceptible to malignant hyperthermia: histology, in vitro contracture tests, and genetic characterization. Arch Neurol 2004; 61: 106-13.
-
(2004)
Arch Neurol
, vol.61
, pp. 106-113
-
-
Guis, S.1
Figarella-Branger, D.2
Monnier, N.3
Bendahan, D.4
Kozak-Ribbens, G.5
Mattei, J.P.6
-
32
-
-
17344368549
-
Identification of novel mutations in the ryanodinereceptor gene (RYR1) in malignant hyperthermia: Genotype-phenotype correlation
-
Manning BM Quane KA, Ording H, Urwyler A, Tegazzin V, Lehane M, et al. Identification of novel mutations in the ryanodinereceptor 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
-
-
Quane Ka, M.B.M.1
Ording, H.2
Urwyler, A.3
Tegazzin, V.4
Lehane, M.5
-
33
-
-
18344375700
-
Novel mutations in C-terminal channel region of the ryanodine receptor in malignant hyperthermia patients
-
Oyamada H, Oguchi K, Saitoh N, Yamazawa T, Hirose K, Kawana Y, et al. Novel mutations in C-terminal channel region of the ryanodine receptor in malignant hyperthermia patients. Jpn J Pharmacol 2002; 88: 159-66.
-
(2002)
Jpn J Pharmacol
, vol.88
, pp. 159-166
-
-
Oyamada, H.1
Oguchi, K.2
Saitoh, N.3
Yamazawa, T.4
Hirose, K.5
Kawana, Y.6
-
34
-
-
0030666554
-
Caffeine and halothane sensitivity of intracellular Ca2+ release is altered by 15 calcium release channel (ryanodine receptor) mutations associated with malignant hyperthermia and /or central core disease
-
Tong J, Oyamada H, Demaurex N, Grinstein S, McCarthy TV, MacLennan DH. Caffeine and halothane sensitivity of intracellular Ca2+ 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: 26332-9.
-
(1997)
J Biol Chem
, vol.272
, pp. 26332-26339
-
-
Tong, J.1
Oyamada, H.2
Demaurex, N.3
Grinstein, S.4
McCarthy, T.V.5
MacLennan, D.H.6
-
35
-
-
0036842950
-
Detecting polymorphisms and mutations in candidate genes
-
Collins JS and Schwartz CE. Detecting polymorphisms and mutations in candidate genes. Am J Hum Genet 2002; 71: 1251-2.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 1251-1252
-
-
Collins, J.S.1
Schwartz, C.E.2
|