Muscular Dystrophies

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

LAMA2 mRNA processing alterations generate a complete deficiency of laminin-α2 protein and a severe congenital muscular dystrophy

Humans / Child / Female / Muscular Dystrophies / Male / Medical Physiology / Pedigree / Phenotype / Genetic linkage analysis / Clinical Sciences / Introns / Neuromuscular Disorders / HeLa cells / Genetic Polymorphism / Transfection / Neurosciences / Medical Physiology / Pedigree / Phenotype / Genetic linkage analysis / Clinical Sciences / Introns / Neuromuscular Disorders / HeLa cells / Genetic Polymorphism / Transfection / Neurosciences

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

Occidental type cerebromuscular dystrophy: a report of eleven cases

Neurology / Turkey / Biopsy / Brain / Humans / Female / Muscular Dystrophies / Male / Muscles / Infant / Ct Scan / Chromosome Disorders / X ray Computed Tomography / Female / Muscular Dystrophies / Male / Muscles / Infant / Ct Scan / Chromosome Disorders / X ray Computed Tomography

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

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

Craniofacial growth in a case of congenital muscular dystrophy

Cephalometry / Humans / Child / Female / Muscular Dystrophies / Skull / Malocclusion / Skull / Malocclusion

Distal anterior compartment myopathy: A dysferlin mutation causing a new muscular dystrophy phenotype

Magnetic Resonance Imaging / Membrane Proteins / Humans / Mutation / Muscular Dystrophy / Female / Muscular Dystrophies / Male / Muscles / Pedigree / Phenotype / Clinical Sciences / Adult / Annals / Neurosciences / Female / Muscular Dystrophies / Male / Muscles / Pedigree / Phenotype / Clinical Sciences / Adult / Annals / Neurosciences

Muscle pathology in dysferlin deficiency

Cognitive Science / Skeletal muscle biology / Membrane Proteins / Immunohistochemistry / Adolescent / Biopsy / Humans / Child / Female / Muscular Dystrophies / Male / Infant / Duchenne Muscular Dystrophy / Clinical Sciences / Middle Aged / Adult / Myositis / Neurosciences / Immunoblotting / Biopsy / Humans / Child / Female / Muscular Dystrophies / Male / Infant / Duchenne Muscular Dystrophy / Clinical Sciences / Middle Aged / Adult / Myositis / Neurosciences / Immunoblotting

Merosin-deficient congenital muscular dystrophy and cortical dysplasia

Skeletal muscle biology / Magnetic Resonance Imaging / Biopsy / Humans / Cerebral Cortex / Female / Muscular Dystrophies / Infant / Clinical Sciences / Consanguinity / Neuronal Migration / Neurosciences / Occipital Lobe / Gliosis / Laminin / Female / Muscular Dystrophies / Infant / Clinical Sciences / Consanguinity / Neuronal Migration / Neurosciences / Occipital Lobe / Gliosis / Laminin

Deletion of Integrin-Linked Kinase from Skeletal Muscles of Mice Resembles Muscular Dystrophy Due to α7β1-Integrin Deficiency

Skeletal muscle biology / Mutation / Mice / Muscular Dystrophy / Muscular Dystrophies / Animals / American / Integrins / Skeletal Muscle / Focal Adhesions / Animals / American / Integrins / Skeletal Muscle / Focal Adhesions

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

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

Distal anterior compartment myopathy: A dysferlin mutation causing a new muscular dystrophy phenotype

Magnetic Resonance Imaging / Membrane Proteins / Humans / Mutation / Muscular Dystrophy / Female / Muscular Dystrophies / Male / Muscles / Pedigree / Phenotype / Clinical Sciences / Adult / Annals / Neurosciences / Female / Muscular Dystrophies / Male / Muscles / Pedigree / Phenotype / Clinical Sciences / Adult / Annals / Neurosciences

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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