Published in Anesthesiology on February 01, 1996
Malignant hyperthermia. Orphanet J Rare Dis (2007) 2.56
Malignant hyperthermia: a review. Orphanet J Rare Dis (2015) 0.92
The G1021A substitution in the RYR1 gene does not cosegregate with malignant hyperthermia susceptibility in a British pedigree. Am J Hum Genet (1997) 0.80
Allele-specific differences in ryanodine receptor 1 mRNA expression levels may contribute to phenotypic variability in malignant hyperthermia. Orphanet J Rare Dis (2010) 0.80
Comparison of the segregation of the RYR1 C184OT mutation with segregation of the caffeine/halothane contracture test results for malignant hyperthermia susceptibility in a large Manitoba Mennonite family. Anesthesiology (1996) 0.75
To fire the train: a second malignant-hyperthermia gene. Am J Hum Genet (1997) 0.75
Redox regulation of fos and jun DNA-binding activity in vitro. Science (1990) 7.09
The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am J Hum Genet (1989) 5.09
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet (1999) 5.04
Amino-acid sequence of a Ca2+ + Mg2+-dependent ATPase from rabbit muscle sarcoplasmic reticulum, deduced from its complementary DNA sequence. Nature (1985) 4.68
Molecular cloning of cDNA encoding human and rabbit forms of the Ca2+ release channel (ryanodine receptor) of skeletal muscle sarcoplasmic reticulum. J Biol Chem (1990) 4.35
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature (1986) 4.13
Isolation of a calcium-sequestering protein from sarcoplasmic reticulum. Proc Natl Acad Sci U S A (1971) 3.98
Molecular cloning of cDNA encoding the Ca2+ release channel (ryanodine receptor) of rabbit cardiac muscle sarcoplasmic reticulum. J Biol Chem (1990) 3.87
Identification of a mutation in porcine ryanodine receptor associated with malignant hyperthermia. Science (1991) 3.85
Masseter muscle spasm in children: implications of continuing the triggering anesthetic. Anesth Analg (1991) 3.74
Studies on the electron transfer system. LXVII. Polyacrylamide gel electrophoresis of the mitochondrial electron transfer complexes. Arch Biochem Biophys (1966) 3.68
Purification and properties of an adenosine triphosphatase from sarcoplasmic reticulum. J Biol Chem (1970) 3.59
Leptin receptor missense mutation in the fatty Zucker rat. Nat Genet (1996) 3.35
Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene. N Engl J Med (1998) 3.28
Two Ca2+ ATPase genes: homologies and mechanistic implications of deduced amino acid sequences. Cell (1986) 3.18
Functional comparisons between isoforms of the sarcoplasmic or endoplasmic reticulum family of calcium pumps. J Biol Chem (1992) 3.09
Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy with closely linked RFLPs. Lancet (1985) 3.08
Calreticulin is essential for cardiac development. J Cell Biol (1999) 2.88
Membrane potential and gentamicin uptake in Staphylococcus aureus. Proc Natl Acad Sci U S A (1982) 2.73
Birt-Hogg-Dubé syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2. Am J Hum Genet (2001) 2.68
A comparison of the caffeine halothane muscle contracture test with the molecular genetic diagnosis of malignant hyperthermia. Anesthesiology (1991) 2.67
Evidence for high-energy extraterrestrial neutrinos at the IceCube detector. Science (2013) 2.56
Influence of cimetidine on pharmacokinetics of propranolol. Br Med J (Clin Res Ed) (1981) 2.50
Staining of the Ca2+-binding proteins, calsequestrin, calmodulin, troponin C, and S-100, with the cationic carbocyanine dye "Stains-all". J Biol Chem (1983) 2.40
Predictive testing for Huntington disease in Canada: adverse effects and unexpected results in those receiving a decreased risk. Am J Med Genet (1992) 2.39
Calcium transport in sarcoplasmic reticulum. Annu Rev Biophys Bioeng (1975) 2.39
Membrane formation by the adenosine triphosphatase of sarcoplasmic reticulum. J Biol Chem (1971) 2.34
Molecular cloning of the high affinity calcium-binding protein (calreticulin) of skeletal muscle sarcoplasmic reticulum. J Biol Chem (1989) 2.32
Location of high affinity Ca2+-binding sites within the predicted transmembrane domain of the sarcoplasmic reticulum Ca2+-ATPase. Nature (1989) 2.29
Phospholamban inhibitory function is activated by depolymerization. J Biol Chem (1997) 2.26
Mitochondrial calcium overload: A general mechanism for cell-necrosis in muscle diseases. Lancet (1976) 2.22
Molecular cloning of cDNAs from human kidney coding for two alternatively spliced products of the cardiac Ca2+-ATPase gene. J Biol Chem (1988) 2.17
Malignant hyperthermia. Science (1992) 2.14
First observation of PeV-energy neutrinos with IceCube. Phys Rev Lett (2013) 2.00
Cloning of a novel member of the low-density lipoprotein receptor family. Gene (1998) 1.97
Isolation of a high affinity calcium-binding protein from sarcoplasmic reticulum. J Biol Chem (1974) 1.89
Mutation of aspartic acid-351, lysine-352, and lysine-515 alters the Ca2+ transport activity of the Ca2+-ATPase expressed in COS-1 cells. Proc Natl Acad Sci U S A (1988) 1.89
Sarcolipin regulates the activity of SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+-ATPase. J Biol Chem (1998) 1.88
Formation of membranes by repeating units. Arch Biochem Biophys (1967) 1.86
Amino acid sequence of rabbit fast-twitch skeletal muscle calsequestrin deduced from cDNA and peptide sequencing. Proc Natl Acad Sci U S A (1987) 1.84
Alterations in sarcoplasmic reticulum gene expression in human heart failure. A possible mechanism for alterations in systolic and diastolic properties of the failing myocardium. Circ Res (1993) 1.83
Hepatic carnitine palmitoyltransferase I deficiency presenting as maternal illness in pregnancy. Pediatr Res (2000) 1.83
Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease: evidence from single sperm analyses. Hum Mol Genet (1997) 1.82
Atypical adenomatous hyperplasia of the prostate: morphologic criteria for its distinction from well-differentiated carcinoma. Hum Pathol (1993) 1.82
Electrochemical proton gradient in inverted membrane vesicles from Escherichia coli. Biochemistry (1980) 1.78
cDNA cloning, functional expression, and mRNA tissue distribution of a third organellar Ca2+ pump. J Biol Chem (1989) 1.77
A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia. Genomics (1991) 1.77
Preparation, characterization, and properties of monoclonal antibodies against the lac carrier protein from Escherichia coli. Proc Natl Acad Sci U S A (1982) 1.74
A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease. Proc Natl Acad Sci U S A (1999) 1.74
p38 MAP kinase mediates bax translocation in nitric oxide-induced apoptosis in neurons. J Cell Biol (2000) 1.74
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) 1.74
Localization of sarcoplasmic reticulum proteins in rat skeletal muscle by immunofluorescence. J Cell Biol (1979) 1.72
CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia. Hum Mol Genet (1999) 1.72
Evaluation of single nucleotide polymorphism typing with invader on PCR amplicons and its automation. Genome Res (2000) 1.71
Lipoprotein-associated phospholipase A(2), platelet-activating factor acetylhydrolase, is expressed by macrophages in human and rabbit atherosclerotic lesions. Arterioscler Thromb Vasc Biol (1999) 1.71
Characterization of the gene encoding human sarcolipin (SLN), a proteolipid associated with SERCA1: absence of structural mutations in five patients with Brody disease. Genomics (1997) 1.70
Adult forms of the Ca2+ATPase of sarcoplasmic reticulum. Expression in developing skeletal muscle. J Biol Chem (1987) 1.69
Atypical presentation of Wiskott-Aldrich syndrome: diagnosis in two unrelated males based on studies of maternal T cell X chromosome inactivation. Blood (1990) 1.68
Radio imaging of the very-high-energy gamma-ray emission region in the central engine of a radio galaxy. Science (2009) 1.66
Measurement of resting cytosolic Ca2+ concentrations and Ca2+ store size in HEK-293 cells transfected with malignant hyperthermia or central core disease mutant Ca2+ release channels. J Biol Chem (1999) 1.63
Effect of subarachnoid hemorrhage on intracranial pulse waves in cats. J Neurosurg (1988) 1.62
Membrane potential in anaerobically growing Staphylococcus aureus and its relationship to gentamicin uptake. Antimicrob Agents Chemother (1983) 1.62
Reconstitution of active transport in proteoliposomes containing cytochrome o oxidase and lac carrier protein purified from Escherichia coli. Proc Natl Acad Sci U S A (1983) 1.60
Purification and characterization of calsequestrin from canine cardiac sarcoplasmic reticulum and identification of the 53,000 dalton glycoprotein. J Biol Chem (1983) 1.60
Prostaglandin and thromboxane synthesis in a pure macrophage population and the inhibition, by E-type prostaglandins, of chemiluminescence. FEBS Lett (1978) 1.55
Problem-based learning as an alternative to lecture-based continuing medical education. J R Soc Med (1998) 1.51
Malignant hyperthermia and central core disease: disorders of Ca2+ release channels. Am J Med (1998) 1.51
Amino acids Glu2 to Ile18 in the cytoplasmic domain of phospholamban are essential for functional association with the Ca(2+)-ATPase of sarcoplasmic reticulum. J Biol Chem (1994) 1.50
Surface particles of sarcoplasmic reticulum membranes. Structural features of the adenosine triphosphatase. J Biol Chem (1974) 1.50
Comparison of iodine-123-epidepride and iodine-123-IBZM for dopamine D2 receptor imaging. J Nucl Med (1996) 1.48
Regional localization of 18 human X-linked DNA sequences. Cytogenet Cell Genet (1986) 1.48
Annual review hospital visits for patients with cystic fibrosis. J R Soc Med (2001) 1.46
The peroxisome proliferator-activated receptor delta promotes lipid accumulation in human macrophages. J Biol Chem (2001) 1.44
Protein-sensitive and fasting hypoglycemia in children with the hyperinsulinism/hyperammonemia syndrome. J Pediatr (2001) 1.42
Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations. Hum Mutat (1998) 1.42
Neonatal screening for glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis (2004) 1.41
The NOD Idd9 genetic interval influences the pathogenicity of insulitis and contains molecular variants of Cd30, Tnfr2, and Cd137. Immunity (2000) 1.40
Mutations in the gene-encoding SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with Brody disease. Nat Genet (1996) 1.40
An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor. Hum Mol Genet (2000) 1.39
Molecular characterization of the marker chromosome associated with cat eye syndrome. Am J Hum Genet (1994) 1.39
Molecular cloning of the mammalian smooth muscle sarco(endo)plasmic reticulum Ca2+-ATPase. J Biol Chem (1989) 1.38
Structure of the rabbit fast-twitch skeletal muscle Ca2+-ATPase gene. J Biol Chem (1988) 1.38
A mutation in the human ryanodine receptor gene associated with central core disease. Nat Genet (1993) 1.37
Phenotypic variability in glutaric aciduria type I: Report of fourteen cases in five Canadian Indian kindreds. J Pediatr (1991) 1.37
Serum CK, calcium, magnesium, and oxidative phosphorylation in mdx mouse muscular dystrophy. Muscle Nerve (1988) 1.36
Molecular characterization of cytogenetic alterations associated with the Beckwith-Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for BWS is imprinted. Hum Mol Genet (1993) 1.36
Tracheal agenesis revisited: analysis of associated anomalies. Am J Med Genet (1999) 1.35
Transmembrane helix M6 in sarco(endo)plasmic reticulum Ca(2+)-ATPase forms a functional interaction site with phospholamban. Evidence for physical interactions at other sites. J Biol Chem (1999) 1.35
A 37-amino acid sequence in the skeletal muscle ryanodine receptor interacts with the cytoplasmic loop between domains II and III in the skeletal muscle dihydropyridine receptor. J Biol Chem (1998) 1.35
Heterozygosity for a large deletion in the alpha 2(I) collagen gene has a dramatic effect on type I collagen secretion and produces perinatal lethal osteogenesis imperfecta. J Biol Chem (1988) 1.34
Effect of diethylpyrocarbonate on lactose/proton symport in Escherichia coli membrane vesicles. Proc Natl Acad Sci U S A (1979) 1.34
Identification of calmodulin-, Ca(2+)-, and ruthenium red-binding domains in the Ca2+ release channel (ryanodine receptor) of rabbit skeletal muscle sarcoplasmic reticulum. J Biol Chem (1994) 1.34
Studies on the mitochondrial adenosine triphosphatase system. IV. Purification and characterization of the oligomycin sensitivity conferring protein. Biochemistry (1968) 1.34
The cytoplasmic loops between domains II and III and domains III and IV in the skeletal muscle dihydropyridine receptor bind to a contiguous site in the skeletal muscle ryanodine receptor. J Biol Chem (1998) 1.31
Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s). Hum Mol Genet (1999) 1.31