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المؤلفون: Francalanci Paola, Adele D'Amico, Enrico Bertini, Kate Bushby, Julia Rankin, Caoimhe McKenna, Hanns Lochmüller, Lev G. Goldfarb, Zagaa Odgerel, Volker Straub, Hee Suk Lee, Anna Sarkozy
مصطلحات موضوعية: Adult, Male, Adolescent, Genotype, Proline, Genetic counseling, DNA Mutational Analysis, Cardiomyopathy, Biology, medicine.disease_cause, Asymptomatic, Article, Young Adult, Muscular Diseases, Sural Nerve, Leucine, medicine, Inheritance Patterns, Humans, Child, Genetics (clinical), Adaptor Proteins, Signal Transducing, Genetics, Family Health, Mutation, medicine.disease, Phenotype, Actin Cytoskeleton, Neurology, Pediatrics, Perinatology and Child Health, Microscopy, Electron, Scanning, Female, Neurology (clinical), medicine.symptom, Myofibril, Apoptosis Regulatory Proteins, Limb-girdle muscular dystrophy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b86fbc452764fc33d12f74c96b75f69fTest
https://europepmc.org/articles/PMC2900409Test/ -
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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: A. Grossmann, Michel Fardeau, Montse Olivé, A. Pou, Matthias Vorgerd, Arndt Rolfs, W. Meyer, J. Pradas, Bjarne Udd, K. Eger, Rolf Schröder, Dirk Fischer, Rudolf A. Kley, Wolfram Kress, Torsten Sommer, K. Strach, Christoph M. Heyer, Angela Huebner, Lev G. Goldfarb, Jens Reimann, Carsten Meyer, Bruno Eymard
المصدر: Neurology; Vol 71
Dipòsit Digital de la UB
Universidad de Barcelona
Recercat. Dipósit de la Recerca de Catalunya
instnameمصطلحات موضوعية: Adult, Male, Weakness, Pathology, medicine.medical_specialty, Tomography Scanners, X-Ray Computed, Adolescent, Muscle Proteins, Biology, Biceps, Desmin, 03 medical and health sciences, 0302 clinical medicine, Myofibrils, Muscular Diseases, medicine, Humans, Gracilis muscle, Myopathy, Muscle, Skeletal, 030304 developmental biology, Adaptor Proteins, Signal Transducing, Aged, Malalties musculars, 0303 health sciences, Sartorius muscle, Muscle weakness, Zaspopathy, alpha-Crystallin B Chain, Anatomy, Articles, LIM Domain Proteins, Middle Aged, medicine.disease, musculoskeletal system, Magnetic Resonance Imaging, Muscular Atrophy, Mutation, Female, Neurology (clinical), medicine.symptom, Myofibril, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d13f66d850ac4503b6b651813f9a872aTest
http://hdl.handle.net/2445/126419Test -
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المؤلفون: Vadim G. Krivoshapkin, Al’bina P. Danilova, Vsevolod A. Vladimirtsev, Raisa S. Nikitina, Fyodor A Platonov, Colin L. Masters, Catriona McLean, Anastasia A Ivanova, Lev G. Goldfarb, Neil A Renwick, D. Carleton Gajdusek
المصدر: Emerging Infectious Diseases, Vol 13, Iss 9, Pp 1321-1321 (2007)
Emerging Infectious Diseasesمصطلحات موضوعية: Adult, Male, Microbiology (medical), Familial aggregation, Adolescent, Epidemiology, Encephalomyelitis, Population, lcsh:Medicine, Viliuisk encephalomyelitis, Disease, lcsh:Infectious and parasitic diseases, medicine, Humans, Family, lcsh:RC109-216, education, education.field_of_study, research, business.industry, Transmission (medicine), lcsh:R, Family aggregation, Meningoencephalitis, Middle Aged, medicine.disease, Yakut (Sakha) people, Virology, Siberia, Infectious Diseases, Immunology, Emerging infectious disease, Female, Viliui River, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0590b71cea9bbec2a9a0158b40e60ec5Test
https://wwwnc.cdc.gov/eid/article/13/9/06-1585_articleTest