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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: 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/ -
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المؤلفون: Shawn M. Burgess, Eric D. Green, Shih Queen Lee-Lin, Lev G. Goldfarb, Kenneth H. Fischbeck, Anthony Antonellis, Paul Leo, Martha Quezado, Kyungjae Myung, Amy S. Wasterlain
مصطلحات موضوعية: Glycine-tRNA Ligase, Neurite, Mutant, Biology, medicine.disease_cause, Glycine—tRNA ligase, Mice, Charcot-Marie-Tooth Disease, Cell Line, Tumor, Chlorocebus aethiops, medicine, Animals, Humans, Peripheral Nerves, Gene, Cells, Cultured, Genetics, chemistry.chemical_classification, Mutation, General Neuroscience, Articles, Phenotype, Axons, Amino acid, chemistry, Gene Expression Regulation, Transfer RNA, COS Cells, Transfer RNA Aminoacylation
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15ed7645ee0db4365c06989cac7e2cb5Test
https://europepmc.org/articles/PMC6674701Test/ -
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المؤلفون: Nyamkhishig Sambuughin, Enrico Bertini, I. Menditto, Stefania Petrini, Adele D'Amico, Margherita Verardo, Lev G. Goldfarb, Sara Benedetti, M. Ferrari, Renata Boldrini
المساهمون: Damico, A, S., Benedetti, S., Petrini, N., Sambuughin, R., Boldrini, I., Menditto, Ferrari, Maurizio, M., Verardo, L., Goldfarb, E., Bertin
مصطلحات موضوعية: medicine.medical_specialty, DNA Mutational Analysis, Mutation, Missense, Adipose tissue, Biology, medicine.disease_cause, Desmin, Electron Transport Complex IV, LMNA, Exon, Muscular Diseases, Myofibrils, Internal medicine, medicine, Humans, Missense mutation, Child, Myopathy, Genetics (clinical), Genetics, Mutation, integumentary system, Skeletal muscle, Exons, Lamin Type A, Immunohistochemistry, medicine.anatomical_structure, Endocrinology, Neurology, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), medicine.symptom, Lamin
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ba4766a7f2753d57c890305772da301Test
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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 -
16دورية أكاديمية
المؤلفون: Lev G Goldfarb, Vsevolod A Vladimirtsev, Fyodor A Platonov, Hee-Suk Lee, Catriona A Mclean, Colin L Masters
المساهمون: The Pennsylvania State University CiteSeerX Archives
وصف الملف: application/pdf
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17دورية أكاديمية
المؤلفون: Amos D. Korczyn, Lev G. Goldfarb
المساهمون: The Pennsylvania State University CiteSeerX Archives
وصف الملف: application/pdf
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18دورية أكاديمية
المؤلفون: Kumaraswamy Sivakumar, Theodoros Kyriakides, Imke Puls, Garth A. Nicholson, Benoît Funalot, Anthony Antonellis, Nyamkhishig Sambuughin, Kyproula Christodoulou, John L. Beggs, Eleni Zamba-papanicolaou, Victor Ionasescu, Marinos C. Dalakas, Eric D. Green, Kenneth H. Fischbeck, Lev G. Goldfarb
المساهمون: The Pennsylvania State University CiteSeerX Archives
وصف الملف: application/pdf
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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 -
20دورية أكاديمية
المؤلفون: Alexey Shatunov, Nyamkhishig Sambuughin, Joseph Jankovic, Rodger Elble, Hee Suk Lee, Andrew B. Singleton, Ayush Dagvadorj, Jay Ji, Yiping Zhang, Virginia E. Kimonis, John Hardy, Mark Hallett, Lev G. Goldfarb
المصدر: Brain: A Journal of Neurology; Sep2006, Vol. 129 Issue 9, p2318-2331, 14p