Ca²⁺ signalling and muscle disease

Mitochondria and Apoptosis

1998 • 8,909 citations

A Calcineurin-Dependent Transcriptional Pathway for Cardiac Hypertrophy

1998 • 2,570 citations

INTRACELLULAR CALCIUM HOMEOSTASIS

1987 • 2,183 citations

Calcium - a life and death signal

1998 • 2,040 citations

Two Ca2+ ATPase genes: Homologies and mechanistic implications of deduced amino acid sequences

1986 • 812 citations

Calreticulin: one protein, one gene, many functions

1999 • 726 citations

Targeted ablation of the phospholamban gene is associated with markedly enhanced myocardial contractility and loss of beta-agonist stimulation.

1994 • 696 citations

Ryanodine receptors of striated muscles: a complex channel capable of multiple interactions

1997 • 690 citations

Calcium pump of the plasma membrane

1991 • 659 citations

Calcium binding and conformational response in EF-hand proteins

1996 • 650 citations

Molecular cloning of cDNA encoding the Ca2+ release channel (ryanodine receptor) of rabbit cardiac muscle sarcoplasmic reticulum.

1990 • 617 citations

Phospholamban: Protein Structure, Mechanism of Action, and Role in Cardiac Function

1998 • 566 citations

A Clinical Grading Scale to Predict Malignant Hyperthermia Susceptibility

1994 • 553 citations

Calreticulin: one protein, one gene, many functions

1999 • 547 citations

Calreticulin Is Essential for Cardiac Development

1999 • 509 citations

Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia

1990 • 508 citations

A PROTOCOL FOR THE INVESTIGATION OF MALIGNANT HYPERPYREXIA (MH) SUSCEPTIBILITY

1984 • 434 citations

A NEW CONGENITAL NON-PROGRESSIVE MYOPATHY

1956 • 418 citations

Malignant-Hyperthermia Susceptibility Is Associated with a Mutation of the a1-Subunit of the Human Dihydropyridine-Sensitive L-Type Voltage-Dependent Calcium-Channel Receptor in Skeletal Muscle

1997 • 417 citations

Targeted ablation of the phospholamban gene is associated with markedly enhanced myocardial contractility and loss of beta-agonist stimulation.

1994 • 407 citations

Localization of the malignant hyperthermia susceptibility locus to human chromosome 19ql2–13.2

1990 • 377 citations

Malignant hyperthermia

1992 • 359 citations

Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia

1993 • 349 citations

Phospholamban: A Prominent Regulator of Myocardial Contractility

1996 • 346 citations

A mutation in the human ryanodine receptor gene associated with central core disease

1993 • 327 citations

Cardiac-specific overexpression of phospholamban alters calcium kinetics and resultant cardiomyocyte mechanics in transgenic mice.

1996 • 319 citations

Calcium as a cellular regulator

1999 • 315 citations

Standardization of the caffeine halothane muscle contracture test. North American Malignant Hyperthermia Group.

1989 • 293 citations

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

1997 • 291 citations

Regulation of Ca2+ signaling in transgenic mouse cardiac myocytes overexpressing calsequestrin.

1998 • 282 citations

Phospholamban Inhibitory Function Is Activated by Depolymerization

1997 • 274 citations

A Leucine Zipper Stabilizes the Pentameric Membrane Domain of Phospholamban and Forms a Coiled-coil Pore Structure

1996 • 252 citations

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

1997 • 249 citations

Crystal structure of calsequestrin from rabbit skeletal muscle sarcoplasmic reticulum

1998 • 235 citations

A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca ²⁺ release channel function and severe central core disease

1999 • 232 citations

Mutations in the gene–encoding SERCA1, the fast–twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with Brody disease

1996 • 227 citations

Sarcolipin Regulates the Activity of SERCA1, the Fast-twitch Skeletal Muscle Sarcoplasmic Reticulum Ca2+-ATPase

1998 • 227 citations

Standardization of the Caffeine Halothane Muscle Contracture Test

1989 • 225 citations

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

1999 • 212 citations

The Sensitivity and Specificity of the Caffeine-Halothane Contracture Test

1998 • 205 citations

Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy.

1993 • 203 citations

Malignant Hyperthermia and Central Core Disease: Disorders of Ca2 Release Channels11In collaboration with The American Physiological Society, Thomas E. Andreoli, MD, Editor

1998 • 197 citations

Structural organization of the pentameric transmembrane alpha-helices of phospholamban, a cardiac ion channel.

1994 • 183 citations

Muscle Contracture Induced by Exercise

1969 • 177 citations

Characterization of the Gene Encoding Human Sarcolipin (SLN), a Proteolipid Associated with SERCA1: Absence of Structural Mutations in Five Patients with Brody Disease

1997 • 169 citations

The Structural Organization of the Human Skeletal Muscle Ryanodine Receptor (RYR1) Gene

1996 • 168 citations

Functional Co-expression of the Canine Cardiac Ca2+Pump and Phospholamban in Spodoptera frugiperda (Sf21) Cells Reveals New Insights on ATPase Regulation

1997 • 162 citations

MALIGNANT HYPERTHERMIA: RELATIONSHIP TO OTHER DISEASES

1988 • 158 citations

Central-core disease and malignant hyperpyrexia.

1973 • 143 citations

Calcium binding and conformational response in EF-hand proteins

1996 • 141 citations

Purification and characterization of phospholamban from canine cardiac sarcoplasmic reticulum.

1985 • 138 citations

Evidence for the localization of a malignant hyperthermia susceptibility locus (MHS2) to human chromosome 17q

1992 • 137 citations

Central Core Disease

1987 • 114 citations

A Genome Wide Search for Susceptibility Loci in Three European Malignant Hyperthermia Pedigrees

1997 • 113 citations

Molecular Biology of Membrane Transport Disorders

1996 • 110 citations

Phospholamban Domain Ib Mutations Influence Functional Interactions with the Ca2+-ATPase Isoform of Cardiac Sarcoplasmic Reticulum

1998 • 104 citations

Mechanism of Direct Coupling between Binding and Induced Structural Change in Regulatory Calcium Binding Proteins

1997 • 104 citations

OXIDATIVE ENZYMES AND PHOSPHORYLASE IN CENTRAL-CORE DISEASE OF MUSCLE

1960 • 104 citations

Myopathy caused by a deficiency of Ca²⁺‐adenosine triphosphatase in sarcoplasmic reticulum (Brody's disease)

1986 • 103 citations

Refinement of diagnostic assays for a probable causal mutation for porcine and human malignant hyperthermia

1992 • 98 citations

The Transgenic Expression of Highly Inhibitory Monomeric Forms of Phospholamban in Mouse Heart Impairs Cardiac Contractility

2000 • 93 citations

Phospholamban mediates the beta-adrenergic-enhanced Ca2+ uptake in mammalian ventricular myocytes

1991 • 90 citations

Cardiac-specific Overexpression of a Superinhibitory Pentameric Phospholamban Mutant Enhances Inhibition of Cardiac Functionin Vivo

2000 • 85 citations

Thermoregulation: pathology, pharmacology, and therapy

1991 • 84 citations

Gene knockout studies of Ca²⁺‐transporting ATPases

2000 • 83 citations

Evidence for linkage of the central core disease locus to the proximal long arm of human chromosome 19

1991 • 78 citations

CENTRAL CORE DISEASE OF MUSCLE: CLINICAL, HISTOCHEMICAL AND ELECTRON MICROSCOPIC STUDIES OF AN AFFECTED MOTHER AND CHILD

1970 • 75 citations

Masseter Muscle Rigidity Associated with Glycine1306-to- Alanine Mutation in the Adult Muscle Sodium Channel α-Subunit Gene

1995 • 73 citations

Cardiac-specific Overexpression of the α1 Subunit of the L-type Voltage-dependent Ca2+ Channel in Transgenic Mice

1999 • 72 citations

Assignment of the gene for central core disease to chromosome 19

1990 • 71 citations

Characterization of cDNA and Genomic DNA Encoding SERCA1, the Ca2+-ATPase of Human Fast-Twitch Skeletal Muscle Sarcoplasmic Reticulum, and Its Elimination as a Candidate Gene for Brody Disease

1995 • 71 citations

Ca2+ homeostasis in Brody's disease. A study in skeletal muscle and cultured muscle cells and the effects of dantrolene an verapamil.

1994 • 70 citations

Central core disease. A correlated genetic, histochemical, ultramicroscopic, and biochemical study.

1975 • 65 citations

Ca2+-ATPase deficiency in a patient with an exertional muscle pain syndrome.

1988 • 53 citations

Central core disease: Ultrastructure of the sarcoplasmic reticulum and T‐tubules

1989 • 51 citations

Refined genetic localization for central core disease.

1993 • 51 citations

Etiopathogenetic defect of malignant hyperthermia: Hypersensitive calcium-release channel of skeletal muscle sarcoplasmic reticulum

1987 • 41 citations

beta-Adrenergic regulation of cAMP and protein phosphorylation in phospholamban-knockout mouse hearts

1997 • 41 citations

Sarcoplasmic reticulum adenosine triphosphatase deficiency with probable autosomal dominant inheritance

1988 • 36 citations

Clinical reassessment of malignant hyperthermia in Abitibi-Témiscamingue

1997 • 32 citations

Multipoint Mapping of the Central Core Disease Locus

1993 • 15 citations

Myopathy with core-like structures in a dog

1987 • 15 citations

The Genetic and Physiological Basis of Malignant Hyperthermia

1996 • 7 citations

Masseter Muscle Rigidity Associated with Glycine1306-to-Alanine Mutation in the Adult Muscle Sodium Channel ??-Subunit Gene

1997 • 3 citations