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المؤلفون: Benedikt Schoser, Wolfgang Müller-Felber, Angela Vincent, Detlef Claus, Christian Kubisch, Giuseppe Vita, David Hilton-Jones, Hans H. Goebel, Saiju Jacob, Antonio Toscano, Peter Van den Bergh
المصدر: Neuromuscular disorders : NMD. 19(3)
مصطلحات موضوعية: myalgia, Adult, Male, Pathology, medicine.medical_specialty, Caveolin 3, Immunogenic, medicine.medical_treatment, Muscle Fibers, Skeletal, Muscle Proteins, Caveolin-3, Myasthenia gravis, Rippling muscle disease, Therapy, Azathioprine, Thymus Gland, Gene mutation, Biology, Caveolae, Dysferlin, Muscular Diseases, Myasthenia Gravis, medicine, Humans, Muscle, Skeletal, Genetics (clinical), Aged, Autoantibodies, Sarcolemma, Electromyography, Autoantibody, Plasmapheresis, Middle Aged, medicine.disease, Neurology, Pediatrics, Perinatology and Child Health, biology.protein, Female, Steroids, Neurology (clinical), Cholinesterase Inhibitors, medicine.symptom, medicine.drug, Follow-Up Studies, Muscle Contraction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c384b86b02ed288872375b4a96f3adc4Test
https://pubmed.ncbi.nlm.nih.gov/19208478Test -
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المؤلفون: Caroline Sewry, Peter Van den Bergh, Francesco Muntoni, Corrado Angelini, Salla Ranta, Vilma Lotta Lehtokari, Kati Donner, Kate Bushby, Katarina Pelin, Susan T. Iannaccone, Nigel G. Laing, Carina Wallgren-Pettersson, Maria Sandbacka
المصدر: Human mutation. 27(9)
مصطلحات موضوعية: Male, Nonsense mutation, DNA Mutational Analysis, Muscle Proteins, Genes, Recessive, Biology, Compound heterozygosity, Myopathies, Nemaline, 03 medical and health sciences, Exon, Nebulin, 0302 clinical medicine, Tropomyosin binding, Nemaline myopathy, Genetics, medicine, Humans, Point Mutation, Frameshift Mutation, Genetics (clinical), Chromatography, High Pressure Liquid, 030304 developmental biology, 0303 health sciences, Point mutation, Exons, medicine.disease, Molecular biology, Exon skipping, Introns, 3. Good health, Codon, Nonsense, biology.protein, Female, RNA Splice Sites, 030217 neurology & neurosurgery, Gene Deletion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35a256f7181c370426ab73d084036ea4Test
https://pubmed.ncbi.nlm.nih.gov/16917880Test