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المؤلفون: Menachem Sadeh, Baruch El-Ad, Jean-Pierre Bouchard, Vivian E. Drory, Galina B. Groozman, Sergiu C. Blumen, Uri Soimu, Lev G. Goldfarb
مصطلحات موضوعية: Adult, Glycine-tRNA Ligase, Male, Pathology, medicine.medical_specialty, Adolescent, DNA Mutational Analysis, Neural Conduction, Biology, Gene mutation, Article, Glycine—tRNA ligase, Cohort Studies, Muscular Atrophy, Spinal, Exon, Young Adult, Atrophy, medicine, Humans, Amyotrophic lateral sclerosis, Gene, Genetics, Electromyography, General Medicine, medicine.disease, Hand, Penetrance, Magnetic Resonance Imaging, Neurology, Spinal Cord, Cervical Vertebrae, Cold sensitivity, Neurology (clinical), medicine.symptom, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6415b5540cac3aef141cc40439875932Test
https://europepmc.org/articles/PMC2864347Test/ -
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المؤلفون: Hans H. Goebel, Patrick Vicart, Montse Olivé, Lev G. Goldfarb
المصدر: Advances in Experimental Medicine and Biology ISBN: 9780387848464
مصطلحات موضوعية: Genetics, Pathology, medicine.medical_specialty, Point mutation, Mutant, Cardiomyopathy, Intermediate Filaments, alpha-Crystallin B Chain, Gene mutation, Biology, medicine.disease, Sudden death, Polymorphism, Single Nucleotide, Article, Upper limb muscle weakness, Desmin, Muscular Diseases, medicine, Disease Progression, Animals, Humans, Intermediate filament
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29870667ee27073c7f94b7651af11498Test
https://europepmc.org/articles/PMC2776705Test/