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1دورية أكاديمية
المؤلفون: Nicolas N. Madigan, Michael J. Polzin, Gaofeng Cui, Teerin Liewluck, Mohammad H. Alsharabati, Christopher J. Klein, Anthony J. Windebank, Georges Mer, Margherita Milone
المصدر: Acta Neuropathologica Communications, Vol 9, Iss 1, Pp 1-13 (2021)
مصطلحات موضوعية: Congenital myopathy, MYH2, MyHC-IIA, Myosin heavy chain IIA, Nemaline rods, Sarcomeric protein aggregation, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2051-5960
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2دورية أكاديمية
المؤلفون: Madigan, Nicolas N., Polzin, Michael J., Cui, Gaofeng, Liewluck, Teerin, Alsharabati, Mohammad H., Klein, Christopher J., Windebank, Anthony J., Mer, Georges, Milone, MargheritaAff1
المصدر: Acta Neuropathologica Communications. 9(1)
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المؤلفون: Margherita Milone, Gaofeng Cui, Teerin Liewluck, Anthony J. Windebank, Michael J. Polzin, Mohammad H. Alsharabati, Nicolas N. Madigan, Christopher J. Klein, Georges Mer
المصدر: Acta Neuropathologica Communications, Vol 9, Iss 1, Pp 1-13 (2021)
Acta Neuropathologica Communicationsمصطلحات موضوعية: 0301 basic medicine, Adult, Male, MyHC-IIA, Case Report, Protein Structure, Secondary, Pathology and Forensic Medicine, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Atrophy, Muscular Diseases, medicine, Missense mutation, Humans, Type 2A fiber atrophy, Myopathy, RC346-429, Muscle, Skeletal, Congenital myopathy, Ophthalmoplegia, Myosin Heavy Chains, Chemistry, Rimmed vacuoles, Skeletal muscle, Ring fibers, Type 2A fiber loss, MYH2, Nemaline rods, medicine.disease, Molecular biology, Myosin heavy chain IIA, 030104 developmental biology, medicine.anatomical_structure, Phenotype, Sarcomeric protein aggregation, Neurology (clinical), Neurology. Diseases of the nervous system, medicine.symptom, Myofibril, 030217 neurology & neurosurgery
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المؤلفون: Adele D'Amico, Fabiana Fattori, Emanuele Bellacchio, Serenella Servidei, Michela Catteruccia, Enrico Bertini
المصدر: Neuromuscular Disorders
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Proximal muscle weakness, Neuromuscular disease, Molecular Sequence Data, Myosin Type V, Mutation, Missense, Case Report, myosin, Biology, Ophthalmoparesis, Muscular Diseases, Sequence Analysis, Protein, medicine, Missense mutation, Humans, Myopathy, Child, Genetics (clinical), Joint contractures, Genetics, Congenital myopathy, Ophthalmoplegia, Muscle Weakness, Myosin Heavy Chains, External ophthalmoplegia, Muscle weakness, MYH2, MyHC IIa, medicine.disease, Settore MED/26 - NEUROLOGIA, Cytoskeletal Proteins, hereditary myopathies, Neurology, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), medicine.symptom
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5دورية أكاديمية
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