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To fire the train: A second malignant-hyperthermia gene
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••], contains an expanded consideration of the clinical features and triggers of the syndrome.
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Hogan, K.1
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Malignant hyperthermia susceptibility, an autosomal dominant disorder?
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Fagerlund TH, Islander G, Ranklev-Twetman E, Berg K. Malignant hyperthermia susceptibility, an autosomal dominant disorder? Clin Genet 1997; 51:365-369. The authors call the prevalent but unmerited assumption of exclusive autosomal dominant MHS inheritance into question in describing eight pedigrees with an MH proband and normal parents by IVCT.
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Fagerlund, T.H.1
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Analysis of anaesthesia in patients suspected to be susceptible to malignant hyperthermia before diagnostic in vitro contracture test
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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. This important contribution describes the reduced penetrance (30-50%) of clinical malignant hyperthermia in probands exposed to trigger agents who later developed a fulminant episode, indicating that failure of trigger despite prior exposure cannot be used as a 'gold standard' to refute the diagnosis of MHS, or for evaluating novel phenotypic or genotypic tests.
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Acta Anaesthesiol Scand
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Bendixen, D.1
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In vitro contracture test for the diagnosis of malignant hyperthermia following the protocol of the European MH Group: Results of testing patients surviving fulminant MH and unrelated low risk subjects
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Ording H for the European Malignant Hyperthermia Group. In vitro contracture test for the 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. A summary of IVCT test sensitivity and specificity in patients at the extremes of malignant hyperthermia susceptibility, which exemplifies the inherent strengths and implicit inadequacies of contracture testing.
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Acta Anaesthesiol Scand
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Ording, H.1
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7
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0030762205
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4-chloro-m-cresol test - A possible supplementary test for diagnosis of malignant hyperthermia susceptibility
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Ording H, Glahn K, Gardi T, Fagerlund T, Bendixen D. 4-chloro-m-cresol test - a possible supplementary test for diagnosis of malignant hyperthermia susceptibility. Acta Anaesthesiol Scand 1997; 41:967-972. Addition of this substance to IVCT protocols may be a significant refinement, but its ratification awaits improved genotype-phenotype correlations, which have yet to be reported.
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Acta Anaesthesiol Scand
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Ording, H.1
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9
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0031906019
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Multicentre evaluation of ryanodine contracture testing in malignant hyperthermia
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Hopkins PM, Hartung E, Wappler F, and the European Malignant Hyperthermia Group. Multicentre evaluation of ryanodine contracture testing in malignant hyperthermia. Br J Anaesth 1998; 80:389-394. The comments to [7] also apply. Moreover, biochemical specificity of ryanodine for RYR1 should not be confused with estimates of specificity of the ryanodine-IVCT for MHS. It is not known, but is predictable, that ryanodine will potentiate contractures in MHS fascicles harvested from patients with other than RYR1 MHS mutant loci.
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Br J Anaesth
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Hopkins, P.M.1
Hartung, E.2
Wappler, F.3
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10
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0030661684
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Attenuation of serotonin-induced contractures in skeletal muscle from malignant hyperthermia susceptible patients with dantrolene
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Wappler F, Schotz J, von Richthofen V, Fiege M, Kochling A, Lambrecht W, Schulte am Esch J. Attenuation of serotonin-induced contractures in skeletal muscle from malignant hyperthermia susceptible patients with dantrolene. Acta Anaesthesiol Scand 1997; 41:1312-1318. This paper is one of a series investigating the altered response of MHS muscle to serotonergic agonists and antagonists.
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(1997)
Acta Anaesthesiol Scand
, vol.41
, pp. 1312-1318
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Wappler, F.1
Schotz, J.2
Von Richthofen, V.3
Fiege, M.4
Kochling, A.5
Lambrecht, W.6
Schulte Am Esch, J.7
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Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: Genotype-phenotype correlation
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Manning B, Quanne KA, Ording H, Urwyler A, Tegazzin V, Lehane M, 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. Now that evidence for genetic heterogeneity is overwhelming, the authors found it rewarding to scrutinize earlier data for evidence of phenotypic heterogeneity (pleiotropy) in clinical triggers and IVCT results paralleling discrete genotypes.
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Am J Hum Genet
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Manning, B.1
Quanne, K.A.2
Ording, H.3
Urwyler, A.4
Tegazzin, V.5
Lehane, M.6
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13
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2+ channel ryanodine receptor: Modulation by endogenous effectors, drugs and disease states
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2+ channel ryanodine receptor: modulation by endogenous effectors, drugs and disease states. Pharmacol Rev 1997; 49:2-43. This is a landmark review of calcium release channel physiology and pharmacology.
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Pharmacol Rev
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Zucchi, R.1
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Genetic heterogeneity and HOMOG analysis in British malignant hyperthermia families
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Robinson R, Curran JL, Hall WJ, Halsall PJ, Hopkins PM, Markham AF. Genetic heterogeneity and HOMOG analysis in British malignant hyperthermia families. J Med Genet 1998; 35:196-201. The authors grapple with the causes (e.g. erroneous phenotyping, 'second genes') and consequences of genetic heterogeneity in an impressive dataset of well-defined malignant hyperthermia families.
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Robinson, R.1
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Hall, W.J.3
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Hopkins, P.M.5
Markham, A.F.6
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18
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0030453721
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Recombination between the postulated CCD/MHE/MHS locus and RYR1 gene markers
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Fagerlund TH, Islander G, Ranklev-Tweteman E, Berg K. Recombination between the postulated CCD/MHE/MHS locus and RYR1 gene markers. Clin Genet 1996; 50:455-458.
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Fagerlund, T.H.1
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19
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1 subunit of the dihydropyridine-sensitive L-type calcium channel (CACNL1A3)
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1 subunit of the dihydropyridine-sensitive L-type calcium channel (CACNL1A3). Genomics 1996; 31:392-394.
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Genomics
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Malignant hyperthermia in a patient with hypokalemic periodic paralysis
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Lambert C, Blanloeil Y, Krisovec-Horber R, Berard L, Reyford H, Pinaud M. Malignant hyperthermia in a patient with hypokalemic periodic paralysis. Anesth Analg 1994; 79:1012-1014.
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0030877028
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Towards a unified nomenclature describing voltage-gated calcium channels
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Lory P, Ophoff RA, Nahmias J. Towards a unified nomenclature describing voltage-gated calcium channels. Hum Genet 1997; 100:149-150. The lexicon proposed in this short manuscript helps interested parties conceptualize relations between voltage-dependent calcium channel isoforms and subunits.
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Hum Genet
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Lory, P.1
Ophoff, R.A.2
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Genotype-phenotype correlations of DHP receptor alpha 1-subunit gene mutations causing hypokalemic periodic paralysis
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Fouad G, Dalakas M, Servidei S, Mendell JR, Van den Bergh P, Angelini C, et al. Genotype-phenotype correlations of DHP receptor alpha 1-subunit gene mutations causing hypokalemic periodic paralysis. Neuromusc Disord 1997; 7:33-38.
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Fouad, G.1
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Mendell, J.R.4
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Angelini, C.6
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23
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A genome wide search for susceptibility loci in three European malignant hyperthermia pedigrees
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Robinson RL, Monnier N, Wolz W, Jung M, Reis A, Nurnberg G, et al. A genome wide search for susceptibility loci in three European malignant hyperthermia pedigrees. Hum Mol Genet 1997; 6:953-961. Beginning with a set of large well-characterized pedigrees, the European Malignant Hyperthermia Group identified two novel loci on chromosome 1q and 5p.
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Hum Mol Genet
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Robinson, R.L.1
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Nurnberg, G.6
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24
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0030922550
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1 subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium channel receptor in skeletal muscle
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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. This paper describes the first mutant MHS allele at a locus other than the RYR1.
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Am J Hum Genet
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Monnier, N.1
Procaccio, V.2
Stieglitz, P.3
Lunardi, J.4
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25
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0028243282
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2/δ-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
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2/δ-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; 3:969-975.
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Iles, D.E.1
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Suijkerbuijk, R.F.6
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26
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0028929891
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Mapping of a further malignant hyperthermia susceptibility locus to chromosome 3q13.1
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Sudbrak R, Procaccio V, Klausnitzer M, Curran JL, Monsieurs K, Van Broeckenhoven C, et al. Mapping of a further malignant hyperthermia susceptibility locus to chromosome 3q13.1. Am J Hum Genet 1995; 56:684-691.
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Sudbrak, R.1
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Van Broeckenhoven, C.6
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Franzini-Armstrong C, Protasi F. Ryanodine receptors of striated muscles: a complex channel capable of multiple interactions. Physiol Rev 1997; 77:699-729. The exquisite microscopic architecture and functional anatomy of the skeletal muscle triad are reviewed.
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Physiol Rev
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Franzini-Armstrong, C.1
Protasi, F.2
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Vladutiu GD, Hogan K, Saponara I, Tassini L, Conry J. Carnitine palmitoyl transferase deficiency in malignant hyperthermia. Muscle Nerve 1993; 16:485-491.
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Tassini, L.4
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0031900418
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Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance
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Plassart-Schiess E, Gervais A, Eymard B, Lagueny A, Pouget J, Warter JM, et al. Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance. Neurology 1998; 50:1176-1179. Disorders of skeletal muscle ion channels together with MHS are providing early evidence in humans for deficiencies in the Mendelian paradigm.
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Neurology
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Plassart-Schiess, E.1
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Eymard, B.3
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MacLennan DH. Discordance between phenotype and genotype in malignant hyperthermia. Curr Opin Neurol 1995; 8:397-401.
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0031057519
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Richter M, Schleithoff L, Deufel T, Lehmann-Horn F, Herrman-Frank A. Functional characterization of a distinct ryanodine receptor mutation in human malignant hyperthermia-susceptible muscle. J Biol Chem 1997; 272:5256-5260. The authors demonstrate that a central RYR1 MHS mutation (G7300A) alters ryanodine binding in sarcoplasmic reticulum vesicles prepared from five MHS volunteers.
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J Biol Chem
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, pp. 5256-5260
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Richter, M.1
Schleithoff, L.2
Deufel, T.3
Lehmann-Horn, F.4
Herrman-Frank, A.5
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33
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0030666554
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2+ release is altered by 15 calcium release channel (ryanodine receptor) mutations associated with malignant hyperthermia and/or central core disease
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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; 272:26331-26339. Despite expression of human MHS mutations using rabbit RYR1 complementary DNA vectors transfected into nonmyogenic cells, this manuscript is a tour de force providing firm evidence for the causality of many human RYR1 mutations.
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(1997)
J Biol Chem
, vol.272
, pp. 26331-26339
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Tong, J.1
Oyamada, H.2
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Grinstein, S.4
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MacLennan, D.H.6
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31Phosphorus magnetic resonance spectroscopy characterization of muscular metabolic anomalies in patients with malignant hyperthermia: Application to diagnosis
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31Phosphorus magnetic resonance spectroscopy characterization of muscular metabolic anomalies in patients with malignant hyperthermia: application to diagnosis. Anesthesiology 1998; 88:96-107. This investigation describes a noninvasive method to detect a decrement in skeletal muscle phosphocreatine and pH during exercise in 15 MHS compared with MHN patients, with no false positive or false negative results.
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(1998)
Anesthesiology
, vol.88
, pp. 96-107
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Bendahan, D.1
Kozak-Ribbens, G.2
Rodet, L.3
Confort-Gouny, S.4
Cozzone, P.J.5
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