Muscular Dystrophies

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

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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

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FAK Deficiency in Cells Contributing to the Basal Lamina Results in Cortical Abnormalities Resembling Congenital Muscular Dystrophies

Cognitive Science / Electron Microscopy / Immunohistochemistry / Transcription Factors / Western blotting / Basement Membrane / Mutation / Cerebral Cortex / Mice / Muscular Dystrophies / Animals / Infection / Neurons / Astrocytes / Phosphotyrosine / Lamins / Calbindin / Neuron / Glial Fibrillary Acidic Protein / DNA binding proteins / Neurosciences / Focal Adhesion Kinase / Extracellular Matrix Proteins / Congenital muscular dystrophy / Basement Membrane / Mutation / Cerebral Cortex / Mice / Muscular Dystrophies / Animals / Infection / Neurons / Astrocytes / Phosphotyrosine / Lamins / Calbindin / Neuron / Glial Fibrillary Acidic Protein / DNA binding proteins / Neurosciences / Focal Adhesion Kinase / Extracellular Matrix Proteins / Congenital muscular dystrophy

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Secondary calpain3 deficiency in 2q-linked muscular dystrophy

Cognitive Science / Neurology / Immunohistochemistry / Humans / Protein Kinases / Mice / Haplotypes / Muscular Dystrophies / Animals / Muscles / Pedigree / Genetic linkage analysis / Clinical Sciences / Calpain / Isoenzymes / Neurosciences / Mice / Haplotypes / Muscular Dystrophies / Animals / Muscles / Pedigree / Genetic linkage analysis / Clinical Sciences / Calpain / Isoenzymes / Neurosciences

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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

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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

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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

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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

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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

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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

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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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Facioscapulohumeral dystrophy: jitter in facial muscles

Neurology / Adolescent / Biopsy / Humans / Female / Muscular Dystrophies / Male / Electromyography / Middle Aged / Adult / Neuromuscular Junction / Muscular Dystrophies / Male / Electromyography / Middle Aged / Adult / Neuromuscular Junction

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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

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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

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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

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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

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