Published in Biochemistry on August 09, 1994
Calmodulin activation and inhibition of skeletal muscle Ca2+ release channel (ryanodine receptor). Biophys J (1995) 2.18
Protein-protein interactions in intracellular Ca2+-release channel function. Biochem J (1999) 1.43
Subconductance states in single-channel activity of skeletal muscle ryanodine receptors after removal of FKBP12. Biophys J (1997) 1.34
Ryanodine receptor-mediated arrhythmias and sudden cardiac death. Pharmacol Ther (2009) 1.08
Amino acid residues 4425-4621 localized on the three-dimensional structure of the skeletal muscle ryanodine receptor. Biophys J (2000) 0.89
Calexcitin interaction with neuronal ryanodine receptors. Biochem J (1999) 0.87
Calmodulin sensitivity of the sarcoplasmic reticulum ryanodine receptor from normal and malignant-hyperthermia-susceptible muscle. Biochem J (1996) 0.81
Effect of calmodulin antagonists on calmodulin-induced biphasic modulation of Ca(2+)-induced Ca2+ release. Br J Pharmacol (1996) 0.80
Two potential calmodulin-binding sequences in the ryanodine receptor contribute to a mobile, intra-subunit calmodulin-binding domain. J Cell Sci (2013) 0.79
Variable myopathic presentation in a single family with novel skeletal RYR1 mutation. PLoS One (2013) 0.75
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
A developmental and genetic classification for malformations of cortical development. Neurology (2005) 3.50
Terminology and classification of the cortical dysplasias. Neurology (2004) 2.99
"Calciosome," a cytoplasmic organelle: the inositol 1,4,5-trisphosphate-sensitive Ca2+ store of nonmuscle cells? Proc Natl Acad Sci U S A (1988) 2.99
Classification system for malformations of cortical development: update 2001. Neurology (2001) 2.59
Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia. Nature (1990) 2.20
Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations. Brain (2006) 2.00
Pharmacology of nociceptin and its receptor: a novel therapeutic target. Br J Pharmacol (2000) 1.97
Antimyoclonic effects of alcohol in progressive myoclonus epilepsy. Neurology (1990) 1.78
Protein identification by mass profile fingerprinting. Biochem Biophys Res Commun (1993) 1.76
RYR1 mutations are a common cause of congenital myopathies with central nuclei. Ann Neurol (2010) 1.75
Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion. Neurology (2008) 1.74
GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy. Neurology (2012) 1.67
Syndromes of bilateral symmetrical polymicrogyria. AJNR Am J Neuroradiol (2000) 1.66
Congenital bilateral perisylvian syndrome: study of 31 patients. The CBPS Multicenter Collaborative Study. Lancet (1993) 1.65
Surgical resection for intractable epilepsy in "double cortex" syndrome yields inadequate results. Epilepsia (2001) 1.62
Protocadherin 19 mutations in girls with infantile-onset epilepsy. Neurology (2010) 1.59
Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome. Neurology (2005) 1.57
Cloning and disruption of the gene encoding an extracellular metalloprotease of Aspergillus fumigatus. Mol Microbiol (1994) 1.49
Characterization of mutations in the gene doublecortin in patients with double cortex syndrome. Ann Neurol (1999) 1.47
Neuropeptide S is a stimulatory anxiolytic agent: a behavioural study in mice. Br J Pharmacol (2008) 1.46
Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy. Neurology (2003) 1.45
X-linked malformations of neuronal migration. Neurology (1996) 1.42
Facial hemangioma and cerebral corticovascular dysplasia: a syndrome associated with epilepsy. Neurology (2003) 1.39
Inositol phosphate formation in fMet-Leu-Phe-stimulated human neutrophils does not require an increase in the cytosolic free Ca2+ concentration. Biochem J (1985) 1.37
Bone scintigraphy and radiography in young athletes with low back pain. AJR Am J Roentgenol (1985) 1.34
Delta opioidmimetic antagonists: prototypes for designing a new generation of ultraselective opioid peptides. Mol Med (1995) 1.34
Chlorocresol: an activator of ryanodine receptor-mediated Ca2+ release. Mol Pharmacol (1993) 1.31
The human ryanodine receptor gene: its mapping to 19q13.1, placement in a chromosome 19 linkage group, and exclusion as the gene causing myotonic dystrophy. Am J Hum Genet (1990) 1.31
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) 1.25
Presence and bronchomotor activity of protease-activated receptor-2 in guinea pig airways. Am J Respir Crit Care Med (2000) 1.24
Interaction of S100A1 with the Ca2+ release channel (ryanodine receptor) of skeletal muscle. Biochemistry (1997) 1.22
Band heterotopia: correlation of outcome with magnetic resonance imaging parameters. Ann Neurol (1994) 1.22
Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis. J Med Genet (2008) 1.20
Molecular cloning, expression, functional characterization, chromosomal localization, and gene structure of junctate, a novel integral calcium binding protein of sarco(endo)plasmic reticulum membrane. J Biol Chem (2000) 1.18
Characterization of [Nphe(1)]nociceptin(1-13)NH(2), a new selective nociceptin receptor antagonist. Br J Pharmacol (2000) 1.18
Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene. Neurology (2002) 1.18
Changes in pulmonary blood flow affect vascular response to chronic hypoxia in rats. Circ Res (1983) 1.17
Short- and long-term changes in proteome composition and kinetic properties in a culture of Escherichia coli during transition from glucose-excess to glucose-limited growth conditions in continuous culture and vice versa. Environ Microbiol (2001) 1.16
Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly. Ann Neurol (1999) 1.16
Osteomyelitis: early scintigraphic detection in children. Pediatrics (1976) 1.15
Calcium and inositolphosphates in the activation of T cell-mediated cytotoxicity. J Exp Med (1987) 1.15
Simultaneous targeting of multiple opioid receptors: a strategy to improve side-effect profile. Br J Anaesth (2009) 1.15
Bilateral posterior periventricular nodular heterotopia: a recognizable cortical malformation with a spectrum of associated brain abnormalities. AJNR Am J Neuroradiol (2013) 1.14
Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia. J Med Genet (2003) 1.14
Regulation of the sulfate starvation response in Pseudomonas aeruginosa: role of cysteine biosynthetic intermediates. Microbiology (1998) 1.13
Familial perisylvian polymicrogyria: a new familial syndrome of cortical maldevelopment. Ann Neurol (2000) 1.13
Quantitation and facilitated de novo sequencing of proteins by isotopic N-terminal labeling of peptides with a fragmentation-directing moiety. Anal Chem (2000) 1.13
Intravenous immunoglobulin in neurological disease: a specialist review. J Neurol Neurosurg Psychiatry (2002) 1.13
Urodynamic and clinical evidence of acute inhibitory effects of intravesical nociceptin/orphanin FQ on detrusor overactivity in humans: a pilot study. J Urol (2001) 1.12
Further studies on the Dmt-Tic pharmacophore: hydrophobic substituents at the C-terminus endow delta antagonists to manifest mu agonism or mu antagonism. J Med Chem (1999) 1.11
Human doublecortin (DCX) and the homologous gene in mouse encode a putative Ca2+-dependent signaling protein which is mutated in human X-linked neuronal migration defects. Hum Mol Genet (1998) 1.09
Characterization of nociceptin receptors in the periphery: in vitro and in vivo studies. Naunyn Schmiedebergs Arch Pharmacol (1999) 1.08
Molecular features underlying the sequential phosphorylation of HS1 protein and its association with c-Fgr protein-tyrosine kinase. J Biol Chem (1999) 1.08
Pharmacological characterization of the nociceptin receptor mediating hyperalgesia in the mouse tail withdrawal assay. Br J Pharmacol (1998) 1.07
Radionuclide voiding cystography. Urol Radiol (1983) 1.06
Comparison of the effects of [Phe1psi(CH2-NH)Gly2]nociceptin(1-13)NH2 in rat brain, rat vas deferens and CHO cells expressing recombinant human nociceptin receptors. Br J Pharmacol (1999) 1.06
Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis. Neuromuscul Disord (2013) 1.05
Direct photoaffinity labeling of junctional sarcoplasmic reticulum with [14C]doxorubicin. J Biol Chem (1986) 1.05
Genetic and neuroradiological heterogeneity of double cortex syndrome. Ann Neurol (2000) 1.05
Functional studies of new GLA gene mutations leading to conformational Fabry disease. Biochim Biophys Acta (2009) 1.05
Evolution of the Dmt-Tic pharmacophore: N-terminal methylated derivatives with extraordinary delta opioid antagonist activity. J Med Chem (1997) 1.05
Angelman syndrome: correlations between epilepsy phenotypes and genotypes. Ann Neurol (1998) 1.04
Mosaic mutations of the LIS1 gene cause subcortical band heterotopia. Neurology (2003) 1.04
Abnormal corticomuscular and intermuscular coupling in high-frequency rhythmic myoclonus. Brain (2003) 1.04
Purification of calreticulin-like protein(s) from spinach leaves. Biochem Biophys Res Commun (1993) 1.03
Nociceptin/orphanin FQ receptor ligands. Peptides (2000) 1.02
Structure-activity study of the nociceptin(1-13)-NH2 N-terminal tetrapeptide and discovery of a nociceptin receptor antagonist. J Med Chem (1998) 1.02
The mouse vas deferens: a pharmacological preparation sensitive to nociceptin. Eur J Pharmacol (1996) 1.00
An improved radionuclide method for the diagnosis of gastroesophageal reflux and aspiration in children (milk scan). Radiology (1979) 1.00
In vitro characterization of J-113397, a non-peptide nociceptin/orphanin FQ receptor antagonist. Naunyn Schmiedebergs Arch Pharmacol (2000) 1.00
Radionuclide evaluation of regional lung function in children. J Nucl Med (1974) 1.00
Quantitative radionuclide angiocardiography: detection and quantitation of left to right shunts. Am J Cardiol (1976) 1.00
Posterior quadrantic dysplasia or hemi-hemimegalencephaly: a characteristic brain malformation. Neurology (2004) 1.00
Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients. J Neurol (2009) 0.99
Identification of a duplication of Xq28 associated with bilateral periventricular nodular heterotopia. Am J Hum Genet (1997) 0.99
Lack of cortical contrast gain control in human photosensitive epilepsy. Nat Neurosci (2000) 0.99
Interaction of lymphokine-activated killer cells with susceptible targets does not induce second messenger generation and cytolytic granule exocytosis. J Exp Med (1989) 0.99
The lung following repair of congenital diaphragmatic hernia. J Pediatr (1977) 0.98
High frequency of genomic deletions--and a duplication--in the LIS1 gene in lissencephaly: implications for molecular diagnosis. J Med Genet (2008) 0.98
Lung growth and airway function after lobectomy in infancy for congenital lobar emphysema. J Clin Invest (1980) 0.98
Nerve growth factor (NGF) influences differentiation and proliferation of myogenic cells in vitro via TrKA. Int J Dev Neurosci (2000) 0.97
Calcium dependent activation of skeletal muscle Ca2+ release channel (ryanodine receptor) by calmodulin. Biochem Biophys Res Commun (1995) 0.97
Bilateral perisylvian polymicrogyria in three generations. Neurology (1999) 0.97
Early-onset benign occipital seizure susceptibility syndrome. Epilepsia (1997) 0.97
Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25. J Med Genet (1998) 0.97
Quantitative radionuclide angiocardiography: determination of Qp: Qs in children. Circulation (1973) 0.97
Current value of radionuclide angiocardiography for shunt quantification and management in patients with secundum atrial septal defect. Am Heart J (1982) 0.96
Autoantibodies in thymoma-associated myasthenia gravis with myositis or neuromyotonia. Arch Neurol (2000) 0.96
Polymorphonuclear neutrophils pulsed with synthetic peptides efficiently activate memory cytotoxic T lymphocytes. J Leukoc Biol (1996) 0.96
Alteration of intracellular Ca2+ transients in COS-7 cells transfected with the cDNA encoding skeletal-muscle ryanodine receptor carrying a mutation associated with malignant hyperthermia. Biochem J (1994) 0.96
Reorganisation of the somatosensory system after early brain damage. Clin Neurophysiol (2007) 0.95
Dominant partial epilepsies. A clinical, electrophysiological and genetic study of 19 European families. Brain (2000) 0.95
Seizures in Klinefelter's syndrome. Pediatr Neurol (1998) 0.95
Characterization of the locomotor activity-inhibiting effect of nociceptin/orphanin FQ in mice. Naunyn Schmiedebergs Arch Pharmacol (2001) 0.94