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Muscular Dystrophy
Muscular Dystrophy
Secondary reduction of α7B integrin in laminin α2 deficient congenital muscular dystrophy supports an additional transmembrane link in skeletal muscle
Skeletal muscle biology / Aging / Adolescent / Extracellular Matrix / Antibodies / Humans / Child / Mice / Muscular Dystrophy / Muscular Dystrophies / Animals / Infant / Alternative splicing / The / Integrins / Clinical Sciences / Newborn Infant / Skeletal Muscle / Adult / Muscle development / Alternative Splicing / Protein isoforms / Fetus / Muscle Function / Amino Acid Sequence / Dystrophin / Neurosciences / Becker Muscular Dystrophy (BMD) / Knock Out Mice / Laminin / Molecular Sequence Data / Congenital muscular dystrophy / Child preschool / Humans / Child / Mice / Muscular Dystrophy / Muscular Dystrophies / Animals / Infant / Alternative splicing / The / Integrins / Clinical Sciences / Newborn Infant / Skeletal Muscle / Adult / Muscle development / Alternative Splicing / Protein isoforms / Fetus / Muscle Function / Amino Acid Sequence / Dystrophin / Neurosciences / Becker Muscular Dystrophy (BMD) / Knock Out Mice / Laminin / Molecular Sequence Data / Congenital muscular dystrophy / Child preschool
FacioScapuloHumeral Muscular Dystrophy - A Case Report
Case Report / Muscular Dystrophy
CARDIOLOGÍA DEL ADULTO - PRESENTACIÓN DE CASOS
Muscular Dystrophy / Atrial Fibrillation / Heart Disease
Laminin 1 chain reduces muscular dystrophy in laminin 2 chain deficient mice
Skeletal muscle biology / Transmission Electron Microscopy / Biological Sciences / Basement Membrane / Mice / Muscular Dystrophy / Muscular Dystrophies / Animals / Human Molecular Genetics / Fluorescent Antibody Technique / Genotype / Gene Expression Regulation / Laminin / Muscular Dystrophy / Muscular Dystrophies / Animals / Human Molecular Genetics / Fluorescent Antibody Technique / Genotype / Gene Expression Regulation / Laminin
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
19. An unusual case of Pompe disease presenting as muscular dystrophy
Muscular Dystrophy / Clinical Sciences
The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein
Membrane Proteins / Apoptosis / Gene expression / Cell line / Humans / Muscular Dystrophy / Cell Death / Rhabdomyosarcoma / Medical Physiology / Chromatin structure / Clinical Sciences / Nuclear envelope / Neuromuscular Disorders / Amino Acid Sequence / Neuromuscular / Neurosciences / Muscular Dystrophy / Cell Death / Rhabdomyosarcoma / Medical Physiology / Chromatin structure / Clinical Sciences / Nuclear envelope / Neuromuscular Disorders / Amino Acid Sequence / Neuromuscular / Neurosciences
Evoked potential study in facio-scapulo humeral muscular dystrophy
Magnetic Resonance Imaging / Face / Brain / Humans / Shoulder / Muscular Dystrophy / Female / Muscular Dystrophies / Male / Arm / Clinical Sciences / Middle Aged / Adult / Genetic variation / Chi Square Distribution / Median Nerve / Case Control Studies / Tibial nerve / Muscular Dystrophy / Female / Muscular Dystrophies / Male / Arm / Clinical Sciences / Middle Aged / Adult / Genetic variation / Chi Square Distribution / Median Nerve / Case Control Studies / Tibial nerve
Evoked potential study in facio-scapulo humeral muscular dystrophy
Magnetic Resonance Imaging / Face / Brain / Humans / Shoulder / Muscular Dystrophy / Female / Muscular Dystrophies / Male / Arm / Clinical Sciences / Middle Aged / Adult / Genetic variation / Chi Square Distribution / Median Nerve / Case Control Studies / Tibial nerve / Muscular Dystrophy / Female / Muscular Dystrophies / Male / Arm / Clinical Sciences / Middle Aged / Adult / Genetic variation / Chi Square Distribution / Median Nerve / Case Control Studies / Tibial nerve
Sensitivity of motor unit potential analysis in facioscapulohumeral muscular dystrophy
Electrophysiology / Skeletal muscle biology / Humans / Muscular Dystrophy / Female / Male / Electromyography / Aged / Middle Aged / Adult / Motor Unit / Sensitivity and Specificity / Action Potentials / Male / Electromyography / Aged / Middle Aged / Adult / Motor Unit / Sensitivity and Specificity / Action Potentials
Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled?
Genetics / Cognitive Science / Neurology / Human Genetics / Complementary and Alternative Medicine / Skeletal muscle biology / Immunohistochemistry / Oxidative Stress / Stem Cell / Gene expression / Extracellular Matrix / Cell Culture / Biopsy / Western blotting / Cell line / Humans / Muscle / Mice / Muscular Dystrophy / Female / Muscular Dystrophies / Animals / Male / Muscles / Disease Control / Medical Physiology / Differentiation / Phenotype / Clinical Sciences / Middle Aged / Cell nucleus / Skeletal Muscle / Adult / Neuromuscular Disorders / HeLa cells / In Vitro Studies / Cell Cycle Arrest / Global Gene Expression / Expression analysis / Neuromuscular / Myofibrils / Neurosciences / Biochemistry and cell biology / Gene expression profiling / Extracellular Matrix Proteins / Case Control Studies / Myoblasts / Skeletal muscle biology / Immunohistochemistry / Oxidative Stress / Stem Cell / Gene expression / Extracellular Matrix / Cell Culture / Biopsy / Western blotting / Cell line / Humans / Muscle / Mice / Muscular Dystrophy / Female / Muscular Dystrophies / Animals / Male / Muscles / Disease Control / Medical Physiology / Differentiation / Phenotype / Clinical Sciences / Middle Aged / Cell nucleus / Skeletal Muscle / Adult / Neuromuscular Disorders / HeLa cells / In Vitro Studies / Cell Cycle Arrest / Global Gene Expression / Expression analysis / Neuromuscular / Myofibrils / Neurosciences / Biochemistry and cell biology / Gene expression profiling / Extracellular Matrix Proteins / Case Control Studies / Myoblasts
DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1
Multidisciplinary / DNA / Humans / Muscular Dystrophy / Base Sequence
The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein
Membrane Proteins / Apoptosis / Gene expression / Cell line / Humans / Muscular Dystrophy / Cell Death / Rhabdomyosarcoma / Medical Physiology / Chromatin structure / Clinical Sciences / Nuclear envelope / Neuromuscular Disorders / Amino Acid Sequence / Neuromuscular / Neurosciences / Muscular Dystrophy / Cell Death / Rhabdomyosarcoma / Medical Physiology / Chromatin structure / Clinical Sciences / Nuclear envelope / Neuromuscular Disorders / Amino Acid Sequence / Neuromuscular / Neurosciences
Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled?
Genetics / Cognitive Science / Neurology / Human Genetics / Complementary and Alternative Medicine / Skeletal muscle biology / Immunohistochemistry / Oxidative Stress / Stem Cell / Gene expression / Extracellular Matrix / Cell Culture / Biopsy / Western blotting / Cell line / Humans / Muscle / Mice / Muscular Dystrophy / Female / Muscular Dystrophies / Animals / Male / Muscles / Disease Control / Medical Physiology / Differentiation / Phenotype / Clinical Sciences / Middle Aged / Cell nucleus / Skeletal Muscle / Adult / Neuromuscular Disorders / HeLa cells / In Vitro Studies / Cell Cycle Arrest / Global Gene Expression / Expression analysis / Neuromuscular / Myofibrils / Neurosciences / Biochemistry and cell biology / Gene expression profiling / Extracellular Matrix Proteins / Case Control Studies / Myoblasts / Skeletal muscle biology / Immunohistochemistry / Oxidative Stress / Stem Cell / Gene expression / Extracellular Matrix / Cell Culture / Biopsy / Western blotting / Cell line / Humans / Muscle / Mice / Muscular Dystrophy / Female / Muscular Dystrophies / Animals / Male / Muscles / Disease Control / Medical Physiology / Differentiation / Phenotype / Clinical Sciences / Middle Aged / Cell nucleus / Skeletal Muscle / Adult / Neuromuscular Disorders / HeLa cells / In Vitro Studies / Cell Cycle Arrest / Global Gene Expression / Expression analysis / Neuromuscular / Myofibrils / Neurosciences / Biochemistry and cell biology / Gene expression profiling / Extracellular Matrix Proteins / Case Control Studies / Myoblasts
DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1
Multidisciplinary / DNA / Humans / Muscular Dystrophy / Base Sequence
Secondary reduction of α7B integrin in laminin α2 deficient congenital muscular dystrophy supports an additional transmembrane link in skeletal muscle
Skeletal muscle biology / Aging / Adolescent / Extracellular Matrix / Antibodies / Humans / Child / Mice / Muscular Dystrophy / Muscular Dystrophies / Animals / Infant / Alternative splicing / The / Integrins / Clinical Sciences / Newborn Infant / Skeletal Muscle / Adult / Muscle development / Alternative Splicing / Protein isoforms / Fetus / Muscle Function / Amino Acid Sequence / Dystrophin / Neurosciences / Becker Muscular Dystrophy (BMD) / Knock Out Mice / Humans / Child / Mice / Muscular Dystrophy / Muscular Dystrophies / Animals / Infant / Alternative splicing / The / Integrins / Clinical Sciences / Newborn Infant / Skeletal Muscle / Adult / Muscle development / Alternative Splicing / Protein isoforms / Fetus / Muscle Function / Amino Acid Sequence / Dystrophin / Neurosciences / Becker Muscular Dystrophy (BMD) / Knock Out Mice
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