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المؤلفون: Ans T. van der Ploeg, Linda E.M. van den Berg, Pieter A. van Doorn, Robert M. Verdijk, Juna M. de Vries, Arnold J. J. Reuser
المصدر: Neuromuscular Disorders; Vol 21
مصطلحات موضوعية: myalgia, Adult, Pathology, medicine.medical_specialty, Biopsy, Clinical Neurology, Lysosomal storage disease, Glycogenosis type II, Disease, Gene mutation, Biology, 03 medical and health sciences, 0302 clinical medicine, medicine, Myocyte, Muscle pathology, Humans, Genetics(clinical), Pediatrics, Perinatology, and Child Health, Genetics (clinical), Fatigue, 030304 developmental biology, 0303 health sciences, Muscle biopsy, medicine.diagnostic_test, Glycogen Storage Disease Type II, Enzyme replacement therapy, medicine.disease, Muscle fiber type, 3. Good health, Muscle Fibers, Slow-Twitch, Neurology, Pediatrics, Perinatology and Child Health, Physical therapy, Female, Neurology (clinical), medicine.symptom, 030217 neurology & neurosurgery, Limb-girdle muscular dystrophy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a79be9f4b89f7b086cf585a93d36d03Test
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المؤلفون: Per Harald Jonson, Mark Screen, Peter Hackman, Sanna Huovinen, Bjarne Udd, Olayinka Raheem
المصدر: Neuromuscular Disorders. 22:818
مصطلحات موضوعية: 0303 health sciences, Pathology, medicine.medical_specialty, XBP1, Biology, Cell biology, Gene expression profiling, 03 medical and health sciences, 0302 clinical medicine, Neurology, Pediatrics, Perinatology and Child Health, RNA splicing, medicine, Unfolded protein response, biology.protein, Myocyte, Titin, Neurology (clinical), medicine.symptom, Myopathy, Gene, 030217 neurology & neurosurgery, Genetics (clinical), 030304 developmental biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::fdeb066dfb6de7dac43dc8f8c524e172Test
https://doi.org/10.1016/j.nmd.2012.06.056Test -
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المصدر: Neuromuscular Disorders.
مصطلحات موضوعية: 0303 health sciences, education.field_of_study, medicine.medical_specialty, Neuromuscular disease, Population, Emerin, Cardiomyopathy, Biology, medicine.disease, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Neurology, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, Myocyte, Neurology (clinical), Emery–Dreifuss muscular dystrophy, Muscular dystrophy, education, 030217 neurology & neurosurgery, Genetics (clinical), 030304 developmental biology, Muscle contracture
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0c879fb6a33807b3da2d3dc506cf57b6Test