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Neurology, ISSN 0028-3878, 01/2015, Volume 84, Issue 1, pp. 28 - 35
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 Article
Journal Article
Journal Article
Brain, ISSN 0006-8950, 01/2017, Volume 140, Issue 1, pp. 37 - 48
Journal Article
Journal of Neurology, ISSN 0340-5354, 8/2017, Volume 264, Issue 8, pp. 1791 - 1803
Mutations in GFPT1 (glutamine-fructose-6-phosphate transaminase 1), a gene encoding an enzyme involved in glycosylation of ubiquitous proteins, cause a... 
Neurology | Neurosciences | Medicine & Public Health | GFPT1 | Tubular aggregates | Neuromuscular junction | Neuroradiology | Limb-girdle myasthenia | Myopathy | DPAGT1 | TRANSPORTER | CLINICAL-FEATURES | IDENTIFICATION | CLINICAL NEUROLOGY | SKELETAL-MUSCLE | GENE | STIM1 | GFPT1 MUTATIONS | EXPRESSION | Prospective Studies | Follow-Up Studies | Humans | Middle Aged | Muscle, Skeletal - innervation | Myopathies, Structural, Congenital - genetics | Young Adult | Myopathies, Structural, Congenital - drug therapy | Myasthenic Syndromes, Congenital - pathology | Adult | Female | Retrospective Studies | Neuromuscular Junction - enzymology | Neuromuscular Junction - pathology | Myasthenic Syndromes, Congenital - enzymology | Myasthenic Syndromes, Congenital - genetics | Muscle, Skeletal - enzymology | Myopathies, Structural, Congenital - enzymology | Glycosylation | Myasthenic Syndromes, Congenital - drug therapy | Adolescent | Myopathies, Structural, Congenital - pathology | Aged | Glutamine-Fructose-6-Phosphate Transaminase (Isomerizing) - genetics | Muscle, Skeletal - pathology | Complications and side effects | Myasthenia gravis | Gene mutations | Physiological aspects | Muscle diseases | Genetic aspects | Research | Risk factors | Fructose-6-phosphate | Congenital defects | Transaminase | Tubules | Fructose | Skeletal muscle | Membrane proteins | Proteins | Etiology | Biopsy | Neuromuscular junctions | Reinnervation | Myasthenia | Mutation | Denervation | Glutamine | Index Medicus | Life Sciences | Neurons and Cognition | Neurobiology
Journal Article
Muscle & Nerve, ISSN 0148-639X, 08/2018, Volume 58, Issue 2, pp. 235 - 244
Introduction : Congenital myopathies are muscle diseases characterized by specific histopathologic features, generalized hypotonia from birth, and perinatal... 
molecular genetics | core | fiber type disproportion | nemaline rods | central nuclei | congenital myopathy | NEMALINE MYOPATHY | NEBULIN GENE | CLINICAL-FEATURES | NEUROSCIENCES | ROD MYOPATHY | CLINICAL NEUROLOGY | FIBER-TYPE DISPROPORTION | RYR1 MUTATIONS | ALPHA-ACTIN GENE | DNM2-RELATED CENTRONUCLEAR MYOPATHY | PATHOLOGICAL FEATURES | CENTRAL CORE DISEASE | Myopathies, Nemaline - genetics | Humans | Myopathies, Structural, Congenital - congenital | Child, Preschool | Infant | Male | Myopathies, Structural, Congenital - genetics | Myopathies, Nemaline - pathology | Young Adult | Adult | Female | Retrospective Studies | Myotonia Congenita - genetics | Child | Myopathy, Central Core - genetics | Republic of Korea | Myopathy, Central Core - congenital | Dynamins - genetics | Treatment Outcome | Myotonia Congenita - pathology | Muscle Proteins - genetics | Myopathy, Central Core - pathology | Ryanodine Receptor Calcium Release Channel - genetics | Adolescent | Age of Onset | Muscle Fibers, Skeletal - pathology | Myopathies, Structural, Congenital - pathology | Mutation | Medicine, Experimental | Medical research | Development and progression | Genetic disorders | Health aspects | Hypotonia | Congenital diseases | Complications | Nemaline myopathy | Ryanodine receptors | Muscles | Children | Central core disease | Patients | Myopathy | Index Medicus
Journal Article
Journal Article