Clinical implications of cardiac ryanodine receptor/calcium release channel mutations linked to sudden cardiac death

[1] Excitation-contraction uncoupling by a human central core disease mutation in the ryanodine receptor [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2001, 98 (07) : 4215 - 4220

[2] STABILIZATION OF CALCIUM-RELEASE CHANNEL (RYANODINE RECEPTOR) FUNCTION BY FK506-BINDING PROTEIN [J]. CELL, 1994, 77 (04) : 513 - 523

[3] Intracellular calcium homeostasis in human primary muscle cells from malignant hyperthermia-susceptible and normal individuals - Effect of overexpression of recombinant wild-type and Arg163Cys mutated ryanodine receptors [J]. JOURNAL OF CLINICAL INVESTIGATION, 1998, 101 (06) : 1233 - 1242

[4] CALCIUM AND CARDIAC EXCITATION-CONTRACTION COUPLING [J]. ANNUAL REVIEW OF PHYSIOLOGY, 1979, 41 : 473 - 484

[5] Familial polymorphic ventricular arrhythmias - A quarter century of successful medical treatment based on serial exercise-pharmacologic testing [J]. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 1999, 34 (07) : 2015 - 2022

[6] Arrhythmogenic right ventricular cardiomyopathies - Clinical forms and main differential diagnoses [J]. CIRCULATION, 1998, 97 (16) : 1532 - 1535

[7] FKBP12 binding modulates ryanodine receptor channel gating [J]. JOURNAL OF BIOLOGICAL CHEMISTRY, 2001, 276 (20) : 16931 - 16935

[8] Jurkat-Rott K, 2000, MUSCLE NERVE, V23, P4, DOI 10.1002/(SICI)1097-4598(200001)23:1<4::AID-MUS3>3.0.CO

[9] 2-D

[10] A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (06) : 1378 - 1384

[1] Excitation-contraction uncoupling by a human central core disease mutation in the ryanodine receptor [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2001, 98 (07) : 4215 - 4220

[2] STABILIZATION OF CALCIUM-RELEASE CHANNEL (RYANODINE RECEPTOR) FUNCTION BY FK506-BINDING PROTEIN [J]. CELL, 1994, 77 (04) : 513 - 523

[3] Intracellular calcium homeostasis in human primary muscle cells from malignant hyperthermia-susceptible and normal individuals - Effect of overexpression of recombinant wild-type and Arg163Cys mutated ryanodine receptors [J]. JOURNAL OF CLINICAL INVESTIGATION, 1998, 101 (06) : 1233 - 1242

[4] CALCIUM AND CARDIAC EXCITATION-CONTRACTION COUPLING [J]. ANNUAL REVIEW OF PHYSIOLOGY, 1979, 41 : 473 - 484

[5] Familial polymorphic ventricular arrhythmias - A quarter century of successful medical treatment based on serial exercise-pharmacologic testing [J]. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 1999, 34 (07) : 2015 - 2022

[6] Arrhythmogenic right ventricular cardiomyopathies - Clinical forms and main differential diagnoses [J]. CIRCULATION, 1998, 97 (16) : 1532 - 1535

[7] FKBP12 binding modulates ryanodine receptor channel gating [J]. JOURNAL OF BIOLOGICAL CHEMISTRY, 2001, 276 (20) : 16931 - 16935

[8] Jurkat-Rott K, 2000, MUSCLE NERVE, V23, P4, DOI 10.1002/(SICI)1097-4598(200001)23:1<4::AID-MUS3>3.0.CO

[9] 2-D

[10] A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (06) : 1378 - 1384