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Revue neurologique, ISSN 0035-3787, 04/2018, Volume 174, pp. S178 - S178
Journal Article
Nature communications, ISSN 2041-1723, 12/2017, Volume 8, Issue 1, pp. 1859 - 8
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Drugs | Medical research | Neuromuscular diseases | Follistatin | Effectiveness | Mental disorders | Clinical trials | Muscles | Drug delivery | Skeletal muscle | Signal transduction | Signaling | Coding | Animal tissues | Rodents | Myostatin | Activin | Myopathy | Index Medicus | Life Sciences | Human health and pathology
Journal Article
Muscle & nerve, ISSN 0148-639X, 08/2017, Volume 56, Issue 2, pp. 215 - 223
neuralgic amyotrophy | cervicofacial lift | neck surgery | trapezius muscle | electrodiagnosis | iatrogenic nerve lesion | nerve compression | facio‐scapulo‐humeral dystrophy | spinal accessory nerve | winging scapula | facio-scapulo-humeral dystrophy | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Severity of Illness Index | Electric Stimulation | Humans | Middle Aged | Male | Neural Conduction - physiology | Paralysis - pathology | Reaction Time - physiology | Action Potentials - physiology | Magnetic Resonance Imaging | Superficial Back Muscles - physiopathology | Statistics, Nonparametric | Adult | Female | Aged | Functional Laterality - physiology | Retrospective Studies | Paralysis - diagnosis | Jugular vein | Follicle-stimulating hormone | Preservation | Radiation therapy | Scapula | Patients | Trauma | Trapezius muscle | Etiology | Surgery | Head and neck | Diagnostic systems | Dystrophy | Paralysis | Diagnosis | Index Medicus
Journal Article
JAMA : the journal of the American Medical Association, ISSN 0098-7484, 03/2012, Volume 307, Issue 12, pp. 1292 - 1301
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Arrhythmias, Cardiac - therapy | Humans | Middle Aged | Myotonic Dystrophy - mortality | Male | Arrhythmias, Cardiac - etiology | Myotonic Dystrophy - therapy | Cardiac Pacing, Artificial | Death, Sudden, Cardiac | Arrhythmias, Cardiac - physiopathology | Cause of Death | Young Adult | Myotonic Dystrophy - complications | Registries - statistics & numerical data | Survival Analysis | Electrocardiography | Adult | Female | Retrospective Studies | Electrophysiologic Techniques, Cardiac | Cardiovascular disease | Adults | Mortality | Muscular dystrophy | Hospitals | intervention | survival
Journal Article
Muscle & nerve, ISSN 0148-639X, 02/2018, Volume 57, Issue 2, pp. 330 - 334
Charcot–Marie–Tooth disease | CMT | BAG3 | axonal neuropathy myofibrillar myopathy | rigid spine syndrome | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Genetic research | Genetic aspects | Diagnostic imaging | Gene mutations | Charcot-Marie-Tooth disease | Genes | EKG | Echocardiography | Bcl-2 protein | Spine | Abnormalities | Muscles | Neuropathy | Magnetic resonance imaging | Biopsy | Genetic analysis | Infiltration | Mutation | Heart diseases | Index Medicus
Journal Article
Nature genetics, ISSN 1061-4036, 05/2020, Volume 52, Issue 5, pp. 473 - 481
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Sorbitol | Genetic research | Diabetic neuropathies | Genetic aspects | Aldose reductase | Fructose | Reductases | Phenotypes | Genealogy | Diabetes mellitus | Diabetic neuropathy | Genomes | Neuropathy | Patients | Insects | Fibroblasts | Aldehyde reductase | Population | Degeneration | Diabetes | Mutation | Intracellular | Index Medicus
Journal Article
American journal of human genetics, ISSN 0002-9297, 2009, Volume 85, Issue 3, pp. 338 - 353
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Neurology | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Diseases of striated muscles. Neuromuscular diseases | Muscular Dystrophy, Emery-Dreifuss - complications | Humans | Middle Aged | Child, Preschool | Immunoblotting | Male | Lod Score | Sarcomeres - pathology | Cardiovascular Diseases - complications | Genes, X-Linked | DNA Mutational Analysis | Adult | Female | Cell Differentiation | Child | Intracellular Signaling Peptides and Proteins - genetics | Muscular Dystrophy, Emery-Dreifuss - genetics | Genome-Wide Association Study | Chromosomes, Human, X - genetics | LIM Domain Proteins | Mutation - genetics | Myoblasts - pathology | Muscle Proteins - genetics | Pedigree | Adolescent | Fluorescent Antibody Technique | Lung Diseases - complications | Cohort Studies | Protein Isoforms - genetics | Gene mutations | Cardiomyopathy | Analysis | Exon (Molecular genetics) | Genetic aspects | Structure | Heart diseases | Muscular dystrophy | Proteins | Studies | Genes | Cardiovascular disease | Mutation | Gene expression | Index Medicus
Journal Article
Muscle & nerve, ISSN 0148-639X, 04/2020, Volume 61, Issue 4, pp. 491 - 495
electroneuromyography | ATP2A1 | incremental response | Brody myopathy | electric functional analyses | repetitive nerve stimulation | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Electric Stimulation | Humans | Male | Ulnar Nerve - physiopathology | Myotonia Congenita - physiopathology | Electrodiagnosis - methods | Action Potentials - physiology | Exercise Test | Muscle, Skeletal - physiopathology | Female | Electromyography | Mutation | Myotonia Congenita - genetics | Myotonia Congenita - diagnosis | Sarcoplasmic Reticulum Calcium-Transporting ATPases - genetics | Phenotypes | Adenosine | Calcium | Muscles | Stimulation | Action potential | Muscle contraction | Triphosphatase | Biopsy | Sarcoplasmic reticulum | Genetic analysis | Diagnosis | Adenosine triphosphatase | Calcium (reticular) | Myopathy | Index Medicus
Journal Article
Muscle & nerve, ISSN 0148-639X, 12/2017, Volume 56, Issue 6, pp. 1096 - 1100
anoctamin 5 | exercise intolerance | Miyoshi myopathy type 3 | muscular dystrophy | hyperCKemia | limb‐girdle muscular dystrophy | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | France - epidemiology | Anoctamins - genetics | Myalgia - blood | Creatine Kinase - blood | Follow-Up Studies | Muscular Diseases - epidemiology | Myalgia - genetics | Humans | Middle Aged | Asymptomatic Diseases - epidemiology | Muscle Weakness - blood | Muscle Weakness - epidemiology | Male | Myalgia - epidemiology | Mutation - genetics | Muscle Weakness - genetics | Muscular Diseases - blood | Exercise Tolerance - physiology | Adult | Female | Retrospective Studies | Muscular Diseases - genetics | Cohort Studies | Creatine | Creatine kinase | Cardiac patients | Muscles | Rhabdomyolysis | Myalgia | Patients | Muscular dystrophy | Serum levels | Intolerance | Electromyography | Dystrophy | Mutation | Health risk assessment | Heart diseases | Myopathy | Index Medicus
Journal Article
Journal of neurology, neurosurgery and psychiatry, ISSN 0022-3050, 10/2018, Volume 89, Issue 10, pp. 1071 - 1081
muscular dystrophy | muscle MRI | outcome measures | dysferlinopathy | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Psychiatry | Surgery | Science & Technology | Studies | Musculoskeletal system | Neuromuscular diseases | Nuclear magnetic resonance--NMR | Disease | Proteomics | Clinical trials | Muscle function | Mutation | Pattern recognition | Muscular dystrophy | Life Sciences | Bioengineering | Human health and pathology | Imaging | Neuromuscular | 1506
Journal Article