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Journal Article
Circulation, ISSN 0009-7322, 08/2017, Volume 136, Issue 13, pp. e200 - e231
For many neuromuscular diseases (NMDs), cardiac disease represents a major cause of morbidity and mortality. The management of cardiac disease in NMDs is made... 
Neuromuscular disease | Pediatrics | Cardiomyopathy | Muscular dystrophy | AHA Scientific Statements | CARDIAC & CARDIOVASCULAR SYSTEMS | CARDIOVASCULAR MAGNETIC-RESONANCE | MECHANICAL CIRCULATORY SUPPORT | neuromuscular disease | CONVERTING ENZYME-INHIBITORS | LUNG TRANSPLANTATION GUIDELINES | LEFT-VENTRICULAR NONCOMPACTION | muscular dystrophy | pediatrics | CHEYNE-STOKES RESPIRATION | LAMIN A/C GENE | PERIPHERAL VASCULAR DISEASE | DUCHENNE MUSCULAR-DYSTROPHY | MYOCARDIAL DELAYED ENHANCEMENT | cardiomyopathy | CARDIOSELECTIVE BETA-BLOCKERS | Myotonic Dystrophy - metabolism | Barth Syndrome - metabolism | Friedreich Ataxia - pathology | Myotonic Dystrophy - diagnosis | United States | Humans | Myopathies, Structural, Congenital - genetics | Neuromuscular Diseases - pathology | Barth Syndrome - pathology | Myotonic Dystrophy - pathology | Muscular Dystrophy, Emery-Dreifuss - diagnosis | Cardiomyopathies - diagnosis | Neuromuscular Diseases - diagnosis | Muscular Dystrophies, Limb-Girdle - pathology | Friedreich Ataxia - metabolism | Muscular Dystrophies, Limb-Girdle - diagnosis | Muscular Diseases - metabolism | Risk Factors | Friedreich Ataxia - diagnosis | Muscular Dystrophy, Emery-Dreifuss - pathology | Cardiomyopathies - pathology | Muscular Dystrophy, Duchenne - pathology | Muscular Diseases - pathology | Barth Syndrome - diagnosis | American Heart Association | Muscular Diseases - diagnosis | Muscular Dystrophy, Emery-Dreifuss - metabolism | Muscular Dystrophies, Limb-Girdle - metabolism | Barth Syndrome - genetics | Neuromuscular Diseases - complications | Myopathies, Structural, Congenital - pathology | Cardiomyopathies - complications | Myopathies, Structural, Congenital - diagnosis | Muscular Dystrophy, Duchenne - metabolism | Myopathies, Structural, Congenital - metabolism | Muscular Dystrophy, Duchenne - diagnosis | Index Medicus | Abridged Index Medicus
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 12/2017, Volume 127, Issue 12, pp. 4477 - 4487
Journal Article
Developmental Cell, ISSN 1534-5807, 10/2015, Volume 35, Issue 2, pp. 186 - 198
Journal Article
Human Mutation, ISSN 1059-7794, 04/2017, Volume 38, Issue 4, pp. 426 - 438
Calcium (Ca 2+ ) is a physiological key factor, and the precise modulation of free cytosolic Ca 2+ levels regulates multiple cellular functions. Store‐operated... 
SOCE | ORAI1 | calcium | STIM1 | Stormorken syndrome | tubular aggregate myopathy | CA2+ ENTRY | PROTEIN | CONSTITUTIVE ACTIVATION | DEFICIENCY | OPERATED CALCIUM-CHANNEL | REGION | ORIGIN | GENETICS & HEREDITY | INTERACTION MOLECULE-1 STIM1 | CRAC CHANNEL | IMMUNODEFICIENCY | Ichthyosis - metabolism | Calcium - metabolism | Dyslexia - metabolism | Humans | Male | Myopathies, Structural, Congenital - genetics | Erythrocytes, Abnormal - metabolism | Mutation, Missense | Neoplasm Proteins - metabolism | Stromal Interaction Molecule 1 - genetics | Migraine Disorders - metabolism | Miosis - genetics | Base Sequence | HEK293 Cells | Ichthyosis - genetics | Female | Neoplasm Proteins - genetics | Blood Platelet Disorders - genetics | ORAI1 Protein - metabolism | Amino Acid Sequence | ORAI1 Protein - genetics | Cells, Cultured | Spleen - abnormalities | Dyslexia - genetics | Mice, Knockout | Sequence Homology, Amino Acid | Stromal Interaction Molecule 1 - metabolism | Animals | Ion Channel Gating - genetics | Microscopy, Fluorescence - methods | Migraine Disorders - genetics | Spleen - metabolism | Pedigree | Muscle Fatigue - genetics | Miosis - metabolism | Myopathies, Structural, Congenital - metabolism | Blood Platelet Disorders - metabolism | Muscles | Medicine, Experimental | Medical research | Genetic aspects | Permeability | Homeostasis | Mutation | Index Medicus
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 03/2014, Volume 124, Issue 3, pp. 1144 - 1157
Journal Article
Molecular and Cellular Biology, ISSN 0270-7306, 01/2013, Volume 33, Issue 1, pp. 98 - 110
Journal Article
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 03/2014, Volume 124, Issue 3, pp. 1350 - 1363
Journal Article