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المؤلفون: Lev G. Goldfarb, Kitty L. Pomeroy, Herbert Levitan, C. J. Gibbs, Mark S. Godec, D. Carleton Gajdusek, David M. Asher, Zayd A. Eldadah, Stephen M. Feinstone
المصدر: Journal of Medical Virology. 33:260-267
مصطلحات موضوعية: Molecular Sequence Data, Oligonucleotides, Polymerase Chain Reaction, Sensitivity and Specificity, Virus, law.invention, Mice, Togaviridae Infections, Aedes, law, Virology, Animals, Cells, Cultured, Polymerase chain reaction, Brain Chemistry, Infectivity, Base Sequence, biology, Oligonucleotide, Flavivirus, RNA-Directed DNA Polymerase, St louis encephalitis, Brain, biology.organism_classification, Molecular biology, Reverse transcriptase, Infectious Diseases, DNA, Viral
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebe6754d4dc3b91c9f11c162e67c7dedTest
https://doi.org/10.1002/jmv.1890330410Test -
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المؤلفون: Donald L. Price, Shelia M. Violette, Stanley B. Prusiner, Paul J. Shlichta, Frank H. Ruddle, George A. Scangos, Blas Frangione, Dana O. Wirak, Karen K. Hsiao, Sangram S. Sisodia, Colin L. Masters, Goldgaber D, Dennis D. Cunningham, William E. Van Nostrand, C. J. Gibbs, D. Carleton Gajdusek, Lee J. Martin, Jiri G. Safar, Paul Brown, W. F. Odenwald, Donald E. Schmechel, Bruce D. Trapp, Linda C. Cork, Cooduvalli S. Shashikant, Axel Unterbeck, Lary C. Walker, Konrad Beyreuther, Edward H. Koo, Lev G. Goldfarb
المصدر: Brain Research Reviews. 16:83-114
مصطلحات موضوعية: Genetically modified mouse, Amyloid, General Neuroscience, Bovine spongiform encephalopathy, medicine, Homeobox, Scrapie, Neurology (clinical), Biology, medicine.disease, Neuroscience
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3424b8c5594e557c99d1dc742be62612Test
https://doi.org/10.1016/0165-0173Test(91)90021-y -
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المؤلفون: David Hilton-Jones, Kerstin Irlbacher, Isidro Ferrer, Patrick F. Chinnery, Christine Stadelmann-Nessler, Hans H. Goebel, Lev G. Goldfarb, Volker Straub, Nyamkhishig Sambuughin, Montse Olivé, Aleksey Shatunov, Maxwell S. Damian, Frank K. H. van Landeghem, Marinos C. Dalakas, Kate Bushby, Anna Kamińska, Zagaa Odgerel, Bertrand Goudeau, Munkhuu Bayarsaikhan, Hee-Suk Lee, Patrick Vicart
المصدر: European journal of human genetics : EJHG. 17(5)
مصطلحات موضوعية: Male, Filamins, DNA Mutational Analysis, Immunoblotting, Molecular Sequence Data, Immunoglobulins, macromolecular substances, Biology, medicine.disease_cause, Filamin, Article, 03 medical and health sciences, 0302 clinical medicine, Contractile Proteins, Muscular Diseases, Myofibrils, Genetics, medicine, Humans, FLNC, Amino Acid Sequence, Myopathy, Repeated sequence, Muscle, Skeletal, Gene, Peptide sequence, Genetics (clinical), 030304 developmental biology, Repetitive Sequences, Nucleic Acid, Sequence Deletion, Family Health, 0303 health sciences, Mutation, Sequence Homology, Amino Acid, Microfilament Proteins, medicine.disease, Molecular biology, Immunohistochemistry, 3. Good health, Microscopy, Electron, Female, medicine.symptom, 030217 neurology & neurosurgery, Limb-girdle muscular dystrophy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89f102cd786cbab19fc03e3075e2cd48Test
https://pubmed.ncbi.nlm.nih.gov/19050726Test -
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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: Aleksey Shatunov, Mohammad Salajegheh, Lev G. Goldfarb, Raghavan Raju, Goran Rakocevic, Marinos C. Dalakas
المصدر: Annals of neurology. 61(5)
مصطلحات موضوعية: Male, T cell, Muscle Fibers, Skeletal, Genes, MHC Class I, HIV Infections, CD8-Positive T-Lymphocytes, Major histocompatibility complex, Myositis, Inclusion Body, Antigen, medicine, Humans, RNA, Messenger, Myositis, Alleles, biology, Reverse Transcriptase Polymerase Chain Reaction, T lymphocyte, Middle Aged, medicine.disease, Virology, Genes, gag, Immunohistochemistry, medicine.anatomical_structure, Neurology, Immunology, biology.protein, HIV-1, Neurology (clinical), Viral disease, Inclusion body myositis, CD8
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a353d4fdf22958e44ce4fa58505265fTest
https://pubmed.ncbi.nlm.nih.gov/17366634Test -
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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: Gunnar Sjöberg, Marianne de Visser, Marinos C. Dalakas, Lev G. Goldfarb, Patrick Vicart, Anna Kostareva, Pascal Laforêt, Monique Casteras-Simon, Dirk Fischer, Xavier Ferrer, Bertrand Goudeau, Nyamkhishig Sambuughin, Fernando Rodrigues-Lima, Thomas Sejersen, Françoise Chapon
المساهمون: Neurology
المصدر: Human mutation, 27(9), 906-913. Wiley-Liss Inc.
مصطلحات موضوعية: Adult, Male, Models, Molecular, Skeletal muscle weakness, DNA Mutational Analysis, Molecular Sequence Data, Cardiomyopathy, Mutation, Missense, Alpha (ethology), macromolecular substances, Biology, Protein Structure, Secondary, Cell Line, Desmin, Muscular Diseases, Genetics, medicine, Humans, Amino Acid Sequence, Child, Gene, Genetics (clinical), Aged, Desmin filament, Anatomy, Middle Aged, medicine.disease, Phenotype, Molecular biology, Immunohistochemistry, Child, Preschool, Female, Sequence Alignment, Sporadic disorder
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1667ef8827b1dd4d84265d9ab15a207eTest
https://pubmed.ncbi.nlm.nih.gov/16865695Test -
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المؤلفون: Margaret Burke, Aleksey Shatunov, Caroline Sewry, Stephen C. Brown, Pascale Richard, Francesco Muntoni, Lev G. Goldfarb, D. Recan, Eugenio Mercuri, Richard J. Piercy, Gisèle Bonne, R. Ben Yaou
المصدر: Brain : a journal of neurology. 129(Pt 5)
مصطلحات موضوعية: Adult, Cardiomyopathy, Dilated, Male, Adolescent, Emerin, Thymopoietins, Laminopathy, Biology, Bioinformatics, Desmin, LMNA, medicine, Humans, Muscular dystrophy, Myopathy, Muscle, Skeletal, Genetics, Myocardium, Genetic disorder, Muscle weakness, Membrane Proteins, Nuclear Proteins, Middle Aged, medicine.disease, Magnetic Resonance Imaging, Muscular Dystrophy, Emery-Dreifuss, Pedigree, Child, Preschool, Mutation, Female, Neurology (clinical), Laminin, medicine.symptom
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ede9d1d23948d8da9de81e1c50dff2eaTest
https://pubmed.ncbi.nlm.nih.gov/16585054Test -
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المؤلفون: Manuel Arias, Angel Carracedo, Dapena D, Susana Arias, Julio Pardo, Lev G. Goldfarb, María-Jesús Sobrido, Carmen Navarro, Patricia Blanco-Arias
المصدر: Neuromuscular disorders : NMD. 16(8)
مصطلحات موضوعية: Adult, Genetic Markers, Male, DNA Mutational Analysis, Disease, Biology, Sudden death, Desmin, Muscular Diseases, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Myopathy, Muscle, Skeletal, Gene, Genetics (clinical), Monitoring, Physiologic, Genetics, Sex Characteristics, Myocardium, Middle Aged, Phenotype, Pedigree, Death, Sudden, Cardiac, Neurology, Genetic marker, Spain, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Mutation, Female, Neurology (clinical), medicine.symptom, Cardiomyopathies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ccdff958a5aa245654552e4d135cc89Test
https://pubmed.ncbi.nlm.nih.gov/16806931Test