Congenital 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

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

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

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 / fibroblasts / 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 / fibroblasts

The zebrafish candyfloss mutant implicates extracellular matrix adhesion failure in laminin 2-deficient congenital muscular dystrophy

Multidisciplinary / Extracellular Matrix / Animals / Cell Death / PNAS / Zebrafish / Amino Acid Sequence / Base Sequence / Gene Expression Regulation / Motor activity / Laminin / Molecular Sequence Data / Congenital muscular dystrophy / Zebrafish / Amino Acid Sequence / Base Sequence / Gene Expression Regulation / Motor activity / Laminin / Molecular Sequence Data / Congenital muscular dystrophy

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 / fibroblasts / 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 / fibroblasts

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