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Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 2014, Volume 24, Issue 4, pp. 289 - 311
Journal Article
Journal Article
Contemporary Pediatrics, ISSN 8750-0507, 12/2017, Volume 34, Issue 12, pp. 9 - 14
SIGNAL RECOGNITION PARTICLE MYOPATHY Signal recognition particle (SRP) myopathy is a fairly newly described disorder that mimics polymyositis.5 It can also be... 
Pediatrics | Parents & parenting | Congenital diseases | Biopsy | Families & family life | Family medical history | Medical diagnosis | Patients | Muscular dystrophy | Children & youth
Journal Article
Neurology, ISSN 0028-3878, 07/2016, Volume 87, Issue 1, pp. 71 - 76
OBJECTIVE:To apply next-generation sequencing (NGS) for the investigation of the genetic basis of undiagnosed muscular dystrophies and myopathies in a very... 
DIAGNOSIS | PHENOTYPES | DUCHENNE | NEUROMUSCULAR DISORDERS | MENDELIAN DISEASE | CLINICAL NEUROLOGY | Genetic Variation | Diagnosis, Differential | Humans | Female | Italy | Male | Muscular Dystrophies - diagnosis | Sequence Analysis | Muscular Dystrophies - genetics | Cohort Studies | Index Medicus | Abridged Index Medicus | 185
Journal Article
Journal Article
2001, Methods in molecular medicine, ISBN 0896036952, Volume 43, xii, 457
With the molecular mechanisms underlying the various forms of muscular dystrophy now rapidly clarifying, precise diagnosis has become a reality, and even a... 
Muscular Dystrophies | genetics | Genetics, Biochemical | diagnosis | Genetic Screening | Molecular aspects | Muscular dystrophy | Neuromuscular diseases | Laboratory manuals | Neurology | Medicine & Public Health
Book
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
International Journal of E-Health and Medical Communications, ISSN 1947-315X, 04/2017, Volume 8, Issue 2, pp. 33 - 46
The genetic diagnosis of neuromuscular disorder is an active area of research. Microarrays are used to detect the changes in genes for the accurate diagnosis.... 
Facioscapulohumeral muscular dystrophy | K-Means clustering | K-Nearest neighbor | Genetic testing | Hierarchical clustering | Microarrays | Cluster analysis | Discriminant analysis | Algorithms | Genes | Data sets | Genetics | Diagnosis | Muscular dystrophy
Journal Article
2015, Fourth edition., Oxford monographs on medical genetics, ISBN 9780199681488, Volume no. 67., ix, 308 pages
Book
Nature Communications, ISSN 2041-1723, 12/2018, Volume 9, Issue 1, pp. 3906 - 16
Journal Article