Muscular Dystrophy

Periodic Salbutamol in Facioscapulohumeral Muscular Dystrophy: A Randomized Controlled Trial

Adolescent / Muscle strength / Humans / Blood Pressure / Muscular Dystrophy / Female / Male / Heart rate / Young Adult / Clinical Sciences / Middle Aged / Adult / Public health systems and services research / Randomized Controlled Trial / Delayed-Action Preparations / Isometric Contraction / Female / Male / Heart rate / Young Adult / Clinical Sciences / Middle Aged / Adult / Public health systems and services research / Randomized Controlled Trial / Delayed-Action Preparations / Isometric Contraction

Magnetic resonance spectroscopy evidence of abnormal cardiac energetics in Xp21 muscular dystrophy

Signal Processing / Magnetic Resonance Spectroscopy / Energy Metabolism / Phosphorus / Cardiac Hypertrophy / Humans / Left Ventricular Assist Device / Muscular Dystrophy / Female / Male / Duchenne Muscular Dystrophy / Dilated cardiomyopathy / Middle Aged / Skeletal Muscle / Adult / Myocardium / Public health systems and services research / Cardiomyopathies / Left Ventricular Function / Chemical Shift Imaging / Adenosine Triphosphate / The American / Becker Muscular Dystrophy (BMD) / Phosphocreatine / Humans / Left Ventricular Assist Device / Muscular Dystrophy / Female / Male / Duchenne Muscular Dystrophy / Dilated cardiomyopathy / Middle Aged / Skeletal Muscle / Adult / Myocardium / Public health systems and services research / Cardiomyopathies / Left Ventricular Function / Chemical Shift Imaging / Adenosine Triphosphate / The American / Becker Muscular Dystrophy (BMD) / Phosphocreatine

Muscular dystrophy due to dysferlin deficiency in Libyan Jews: Clinical and genetic features

Genetics / Skeletal muscle biology / Membrane Proteins / Limb Girdle Muscular Dystrophy / Biopsy / Libya / Brain / Humans / Muscular Dystrophy / Female / Muscular Dystrophies / Male / Jews / Electromyography / Pedigree / Hypertrophy / Creatine Kinase / Middle Aged / Family Health / Adult / Libya / Brain / Humans / Muscular Dystrophy / Female / Muscular Dystrophies / Male / Jews / Electromyography / Pedigree / Hypertrophy / Creatine Kinase / Middle Aged / Family Health / Adult

Muscular dystrophy due to dysferlin deficiency in Libyan Jews: Clinical and genetic features

Genetics / Skeletal muscle biology / Membrane Proteins / Limb Girdle Muscular Dystrophy / Biopsy / Libya / Brain / Humans / Muscular Dystrophy / Female / Muscular Dystrophies / Male / Jews / Electromyography / Pedigree / Hypertrophy / Creatine Kinase / Middle Aged / Family Health / Adult / Libya / Brain / Humans / Muscular Dystrophy / Female / Muscular Dystrophies / Male / Jews / Electromyography / Pedigree / Hypertrophy / Creatine Kinase / Middle Aged / Family Health / Adult

Sleep quality in Facioscapulohumeral muscular dystrophy

Genetics / Adolescent / Humans / Sleep Quality / Muscular Dystrophy / Female / Sleep disorders / Male / Sleep / The / Clinical Sciences / Polysomnography / Aged / Middle Aged / Adult / Lower limb / Neurosciences / Female / Sleep disorders / Male / Sleep / The / Clinical Sciences / Polysomnography / Aged / Middle Aged / Adult / Lower limb / Neurosciences

Mouth leaks may complicate positive airway pressure treatment of OSAS in facioscapulohumeral muscular dystrophy

Psychology / Sleep Medicine / Masks / Humans / Obstructive sleep apnea / Muscular Dystrophy / Male / Clinical Sciences / Middle Aged / Mouth / Muscular Dystrophy / Male / Clinical Sciences / Middle Aged / Mouth

Clinical features of facioscapulohumeral muscular dystrophy 2

Cognitive Science / Neurology / Adolescent / Humans / Child / Muscular Dystrophy / Female / Male / Gender Difference / DNA methylation / Young Adult / Infant / Disease Severity / Phenotype / Chromatin structure / Clinical Sciences / Newborn Infant / Middle Aged / Family Health / Genotype / Adult / Clinical Assessment / Cross sectional Study / Clinical Presentation / Cross Sectional Studies / Neurosciences / Clinical evaluation / Cohort Studies / Muscular Dystrophy / Female / Male / Gender Difference / DNA methylation / Young Adult / Infant / Disease Severity / Phenotype / Chromatin structure / Clinical Sciences / Newborn Infant / Middle Aged / Family Health / Genotype / Adult / Clinical Assessment / Cross sectional Study / Clinical Presentation / Cross Sectional Studies / Neurosciences / Clinical evaluation / Cohort Studies

CARDIOLOGÍA DEL ADULTO - PRESENTACIÓN DE CASOS

Muscular Dystrophy / Atrial Fibrillation / Heart Disease / Congenital Heart Disease / Ductus Arteriosus / Atrial Septal Defect

Abnormal protein synthesis in facioscapulohurneral muscular dystrophy

Cognitive Science / Neurology / Statistical Analysis / Adolescent / Protein synthesis / Humans / Child / Collagen / Muscular Dystrophy / Female / Muscular Dystrophies / Male / Creatine Kinase / Enzyme / Clinical Sciences / Amino Acids / Skeletal Muscle / Adult / Amino Acid Profile / Light microscopy / Ribosomes / Neurosciences / Ribosomal Protein / Humans / Child / Collagen / Muscular Dystrophy / Female / Muscular Dystrophies / Male / Creatine Kinase / Enzyme / Clinical Sciences / Amino Acids / Skeletal Muscle / Adult / Amino Acid Profile / Light microscopy / Ribosomes / Neurosciences / Ribosomal Protein

Muscular dystrophy due to dysferlin deficiency in Libyan Jews: Clinical and genetic features

Genetics / Skeletal muscle biology / Membrane Proteins / Limb Girdle Muscular Dystrophy / Biopsy / Libya / Brain / Humans / Muscular Dystrophy / Female / Muscular Dystrophies / Male / Jews / Electromyography / Pedigree / Hypertrophy / Creatine Kinase / Middle Aged / Family Health / Adult / Libya / Brain / Humans / Muscular Dystrophy / Female / Muscular Dystrophies / Male / Jews / Electromyography / Pedigree / Hypertrophy / Creatine Kinase / Middle Aged / Family Health / Adult

Extension of the clinical range of facioscapulohumeral dystrophy: report of six cases

Facial expression / Family history / Humans / Muscular Dystrophy / Female / Male / DNA analysis / Differential Diagnosis / Aged / Middle Aged / Adult / Physical examination / Chromosome Disorders / Clinical Signs / Male / DNA analysis / Differential Diagnosis / Aged / Middle Aged / Adult / Physical examination / Chromosome Disorders / Clinical Signs

Inflammatory response in facioscapulohumeral muscular dystrophy (FSHD): Immunocytochemical and genetic analyses

Genetics / Face / Immunohistochemistry / Adolescent / Biopsy / DNA / Inflammatory Immune Response / Humans / Child / Muscle / Muscular Dystrophy / Female / Muscular Dystrophies / Male / Muscles / Middle Aged / Humerus / Adult / Myositis / Scapula / DNA / Inflammatory Immune Response / Humans / Child / Muscle / Muscular Dystrophy / Female / Muscular Dystrophies / Male / Muscles / Middle Aged / Humerus / Adult / Myositis / Scapula

Telethonin-deficiency initially presenting as a congenital muscular dystrophy

Motor Development / Skeletal muscle biology / Magnetic Resonance Imaging / Limb Girdle Muscular Dystrophy / Sequence Analysis / Biopsy / Humans / Child / Muscular Dystrophy / Muscular Dystrophies / Male / Medical Physiology / Clinical Sciences / Neuromuscular Disorders / Neuromuscular / Neurosciences / Biopsy / Humans / Child / Muscular Dystrophy / Muscular Dystrophies / Male / Medical Physiology / Clinical Sciences / Neuromuscular Disorders / Neuromuscular / Neurosciences

PABP2 polyalanine tract expansion causes intranuclear inclusions in oculopharyngeal muscular dystrophy

Immunohistochemistry / Humans / Muscular Dystrophy / Muscular Dystrophies / Clinical Sciences / RNA-binding proteins / Neurosciences / RNA-binding proteins / Neurosciences

Intracellular Ca2+ transients in delta-sarcoglycan knockout mouse skeletal muscle

Genetics / Skeletal muscle biology / Calcium / Signal Transduction / Biological Sciences / Humans / Mice / Muscular Dystrophy / Animals / Physical sciences / Skeletal Muscle / Degeneration / Reference Values / Biochemistry and cell biology / Intracellular Calcium / Sarcoplasmic reticulum / Humans / Mice / Muscular Dystrophy / Animals / Physical sciences / Skeletal Muscle / Degeneration / Reference Values / Biochemistry and cell biology / Intracellular Calcium / Sarcoplasmic reticulum
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