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Dystrophin
Dystrophin
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
Merosin-positive congenital muscular dystrophy with transient brain dysmyelination, pontocerebellar hypoplasia and mental retardation
Genetics / Pathology / Cognitive Science / Skeletal muscle biology / Magnetic Resonance Imaging / Epilepsy / Histology / Immunohistochemistry / Creatine / Magnetic Resonance Spectroscopy / Adolescent / Intellectual Disability / Brain development / Israel / Biopsy / Mental Retardation / London / Brain / Humans / Child / Cerebellum / Muscle / Cerebral Cortex / Haplotypes / Microcephaly / Female / Muscular Dystrophies / Male / Muscles / Infant / Developmental disabilities / Cataract / D-Aspartic Acid / Medical Physiology / Pedigree / Creatine Kinase / Genetic linkage analysis / Clinical Sciences / Spectrum / Fluorescent Antibody Technique / Family Health / Facies / Adult / Neuromuscular Disorders / Time Factors / Consanguinity / Nuclear Family / Neuronal Migration / Neuropediatrics / Dystrophin / X ray Computed Tomography / Choline / Nuclear Magnetic Resonance Imaging / Genetic Markers / Neurosciences / Linkage Analysis / Nino / Myelin Sheath / Magnetic resonance image / Laminin / Congenital muscular dystrophy / Child preschool / Epilepsy / Histology / Immunohistochemistry / Creatine / Magnetic Resonance Spectroscopy / Adolescent / Intellectual Disability / Brain development / Israel / Biopsy / Mental Retardation / London / Brain / Humans / Child / Cerebellum / Muscle / Cerebral Cortex / Haplotypes / Microcephaly / Female / Muscular Dystrophies / Male / Muscles / Infant / Developmental disabilities / Cataract / D-Aspartic Acid / Medical Physiology / Pedigree / Creatine Kinase / Genetic linkage analysis / Clinical Sciences / Spectrum / Fluorescent Antibody Technique / Family Health / Facies / Adult / Neuromuscular Disorders / Time Factors / Consanguinity / Nuclear Family / Neuronal Migration / Neuropediatrics / Dystrophin / X ray Computed Tomography / Choline / Nuclear Magnetic Resonance Imaging / Genetic Markers / Neurosciences / Linkage Analysis / Nino / Myelin Sheath / Magnetic resonance image / Laminin / Congenital muscular dystrophy / Child preschool
Micro-dystrophin cDNA ameliorates dystrophic phenotypes when introduced into mdx mice as a transgene
Skeletal muscle biology / Fluorescence Microscopy / Gene Therapy / Immunohistochemistry / Western blotting / Transgenic Mice / Humans / Mice / Animals / Adeno-associated virus / Biochemical / Duchenne Muscular Dystrophy / Creatine Kinase / Phenotype / Skeletal Muscle / Time Factors / Dystrophin / Biochemistry and cell biology / Gene Transfer / Transgenic Mice / Humans / Mice / Animals / Adeno-associated virus / Biochemical / Duchenne Muscular Dystrophy / Creatine Kinase / Phenotype / Skeletal Muscle / Time Factors / Dystrophin / Biochemistry and cell biology / Gene Transfer
Adeno-associated virus vector-mediated gene transfer into dystrophin-deficient skeletal muscles evokes enhanced immune response against the transgene product
Immune response / Skeletal muscle biology / Gene Therapy / Biological Sciences / Mice / Female / Animals / Gene transfer techniques / Male / Immunosuppression / Adeno-associated virus / Duchenne Muscular Dystrophy / Skeletal Muscle / Degeneration / Dystrophin / Gene Transfer / Female / Animals / Gene transfer techniques / Male / Immunosuppression / Adeno-associated virus / Duchenne Muscular Dystrophy / Skeletal Muscle / Degeneration / Dystrophin / Gene Transfer
Recomendaciones de buenas prácticas para el diagnóstico genético de la distrofia miotónica
Benchmarking / Software Design / Pregnancy / Humans / Genetic Testing / Mutation / Haplotypes / Female / Male / Polymerase Chain Reaction / Myotonic Dystrophy / Duchenne Muscular Dystrophy / Preimplantation genetic diagnosis / RNA-binding proteins / Prenatal Diagnosis / Molecular Diagnostic Techniques / Dystrophin / Medicina Clinica / Early Diagnosis / Genetic Markers / Mutation / Haplotypes / Female / Male / Polymerase Chain Reaction / Myotonic Dystrophy / Duchenne Muscular Dystrophy / Preimplantation genetic diagnosis / RNA-binding proteins / Prenatal Diagnosis / Molecular Diagnostic Techniques / Dystrophin / Medicina Clinica / Early Diagnosis / Genetic Markers
Recomendaciones de buenas prácticas para el diagnóstico genético de la distrofia miotónica
Benchmarking / Software Design / Pregnancy / Humans / Genetic Testing / Mutation / Haplotypes / Female / Male / Polymerase Chain Reaction / Myotonic Dystrophy / Duchenne Muscular Dystrophy / Preimplantation genetic diagnosis / RNA-binding proteins / Prenatal Diagnosis / Molecular Diagnostic Techniques / Dystrophin / Medicina Clinica / Early Diagnosis / Genetic Markers / Mutation / Haplotypes / Female / Male / Polymerase Chain Reaction / Myotonic Dystrophy / Duchenne Muscular Dystrophy / Preimplantation genetic diagnosis / RNA-binding proteins / Prenatal Diagnosis / Molecular Diagnostic Techniques / Dystrophin / Medicina Clinica / Early Diagnosis / Genetic Markers
Merosin-positive congenital muscular dystrophy with transient brain dysmyelination, pontocerebellar hypoplasia and mental retardation
Pathology / Cognitive Science / Skeletal muscle biology / Magnetic Resonance Imaging / Epilepsy / Histology / Immunohistochemistry / Adolescent / Intellectual Disability / Brain development / Israel / Biopsy / Mental Retardation / London / Brain / Humans / Child / Cerebellum / Muscle / Cerebral Cortex / Haplotypes / Female / Muscular Dystrophies / Male / Muscles / Infant / Cataract / Central Nervous System / Medical Physiology / Pedigree / Creatine Kinase / Genetic linkage analysis / Clinical Sciences / Fluorescent Antibody Technique / Skeletal Muscle / Adult / Neuromuscular Disorders / Time Factors / Scoliosis / Consanguinity / Neuronal Migration / Neuropediatrics / Torticollis / Dystrophin / X ray Computed Tomography / Nuclear Magnetic Resonance Imaging / Mr Imaging / Genetic Markers / Neurosciences / Linkage Analysis / Occipital Lobe / Nino / Myelin Sheath / Histology / Immunohistochemistry / Adolescent / Intellectual Disability / Brain development / Israel / Biopsy / Mental Retardation / London / Brain / Humans / Child / Cerebellum / Muscle / Cerebral Cortex / Haplotypes / Female / Muscular Dystrophies / Male / Muscles / Infant / Cataract / Central Nervous System / Medical Physiology / Pedigree / Creatine Kinase / Genetic linkage analysis / Clinical Sciences / Fluorescent Antibody Technique / Skeletal Muscle / Adult / Neuromuscular Disorders / Time Factors / Scoliosis / Consanguinity / Neuronal Migration / Neuropediatrics / Torticollis / Dystrophin / X ray Computed Tomography / Nuclear Magnetic Resonance Imaging / Mr Imaging / Genetic Markers / Neurosciences / Linkage Analysis / Occipital Lobe / Nino / Myelin Sheath
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
[Diagnosis and treatment with steroids for patients with Duchenne muscular dystrophy: experience and recommendations for Mexico. Administración del Patrimonio de la Beneficencia Pública. Asociación de Distrofia Muscular de Occidente]
Obesity / Quality of life / Mexico / Respiratory therapy / Humans / Hyperglycemia / Male / Immunosuppression / Differential Diagnosis / Incidence / Caregivers / Duchenne Muscular Dystrophy / Patient Care Team / MEXICO / Molecular Diagnostic Techniques / Dystrophin / Hyperglycemia / Male / Immunosuppression / Differential Diagnosis / Incidence / Caregivers / Duchenne Muscular Dystrophy / Patient Care Team / MEXICO / Molecular Diagnostic Techniques / Dystrophin
Talin, Vinculin and Nestin Expression in Orofacial Muscles of Dystrophin Deficient mdx Mice
Microbiology / Immunology / Regeneration / Humans / Mutation / Mice / Animals / Duchenne Muscular Dystrophy / Dystrophin / Vinculin / Mice / Animals / Duchenne Muscular Dystrophy / Dystrophin / Vinculin
Congenital muscular dystrophy with merosin deficiency
Skeletal muscle biology / Membrane Proteins / Immunohistochemistry / Biological Sciences / Humans / Child / Muscular Dystrophies / Infant / Dystrophin / Child / Muscular Dystrophies / Infant / Dystrophin
New Dystrophin/Dystroglycan interactors control neuron behavior in Drosophila eye
Cognitive Science / Drosophila melanogaster / Signal Transduction / Mutation / Muscular Dystrophies / Animals / Dystrophin / Axons / Neurosciences / Biochemistry and cell biology / Animals / Dystrophin / Axons / Neurosciences / Biochemistry and cell biology
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