Neuromuscular Disorders

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

Download

Respiratory muscle dysfunction in facioscapulohumeral muscular dystrophy

Humans / Female / Male / Young Adult / Follow-up studies / Medical Physiology / Clinical Sciences / Aged / Middle Aged / Respiratory Muscles / Adult / Vital Capacity / Neuromuscular Disorders / Neurosciences / Medical Physiology / Clinical Sciences / Aged / Middle Aged / Respiratory Muscles / Adult / Vital Capacity / Neuromuscular Disorders / Neurosciences

Download

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

Download

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

Download

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

Download

MP 3.05 CoQ10 deficiency: Clinical and genetic studies

Genetics / Medical Physiology / Clinical Sciences / Neuromuscular Disorders / Neurosciences

Download

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

Download

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

Download

P1.09 Clinical features in collagen VI deficiency

Medical Physiology / Clinical Sciences / Neuromuscular Disorders / Neurosciences

Download

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

Download

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

Download

G.P.7.13 Gene expression profiling in a skeletal muscle cell model of oculopharyngeal muscular dystrophy reveals an extracellular matrix defect

Extracellular Matrix / Muscular Dystrophy / Medical Physiology / Clinical Sciences / Skeletal Muscle / Neuromuscular Disorders / Neurosciences / Neuromuscular Disorders / Neurosciences

Download

An “inflammatory” mitochondrial myopathy. A case report

mtDNA / Humans / Mutation / Male / Medical Physiology / Clinical Sciences / Middle Aged / Myositis / Neuromuscular Disorders / Neurosciences / Clinical Sciences / Middle Aged / Myositis / Neuromuscular Disorders / Neurosciences

Download

An “inflammatory” mitochondrial myopathy. A case report

mtDNA / Humans / Mutation / Male / Medical Physiology / Clinical Sciences / Middle Aged / Myositis / Neuromuscular Disorders / Neurosciences / Clinical Sciences / Middle Aged / Myositis / Neuromuscular Disorders / Neurosciences

Download

G.O. 7 Pharmacological chaperones as an alternate treatment for Pompe disease

Medical Physiology / Clinical Sciences / Neuromuscular Disorders / Neurosciences

Download

No carnitine palmitoyltransferase deficiency in skeletal muscle in 18 malignant hyperthermia susceptible individuals

Skeletal muscle biology / Adolescent / Humans / Female / Male / Medical Physiology / Enzyme / Clinical Sciences / Skeletal Muscle / Adult / Neuromuscular Disorders / Fatty Acid / Enzyme activity / Malignant Hyperthermia / Neurosciences / Medical Physiology / Enzyme / Clinical Sciences / Skeletal Muscle / Adult / Neuromuscular Disorders / Fatty Acid / Enzyme activity / Malignant Hyperthermia / Neurosciences

Download