-
1
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/ -
2
المؤلفون: Aleksey Shatunov, David Hilton-Jones, Waney Squier, James W. Nagle, Bertrand Goudeau, Patrick Vicart, Jan Blancato, Ayush Dagvadorj, Lev G. Goldfarb, Monique Simon-Casteras
المصدر: Muscle and nerve. 27(6)
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Proline, Physiology, DNA Mutational Analysis, Molecular Sequence Data, Muscle Fibers, Skeletal, Intermediate Filaments, macromolecular substances, Biology, medicine.disease_cause, Protein Structure, Secondary, Cell Line, Desmin, Cellular and Molecular Neuroscience, Muscular Diseases, Physiology (medical), medicine, Respiratory muscle, Humans, Genetic Testing, Respiratory system, Intermediate filament, Myopathy, Aged, Mutation, Muscle Weakness, Base Sequence, Sequence Homology, Amino Acid, Respiratory disease, Muscle weakness, Middle Aged, medicine.disease, Respiratory Paralysis, Respiratory Muscles, Female, Neurology (clinical), medicine.symptom, Respiratory Insufficiency
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::234f19a1360ff1d1cce1e0fd4b863b68Test
http://ora.ox.ac.uk/objects/uuid:b4eb305e-5da2-4ac2-90dd-68ad9e0306a3Test