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المؤلفون: Jörg Höhfeld, Kester Kong, Hee S. Lee, Kristina Djinović-Carugo, Martin Tegenthoff, Isidro Ferrer, Montse Olivé, Sören Peters, Mariya Mihaylov, Werner Stenzel, Lev G. Goldfarb, Dieter O. Fürst, Zagaa Odgerel, Juan M. Bilbao, Piraye Serdaroglu-Oflazer, Peter F.M. van der Ven, Matthias Vorgerd, Adekunle Onipe, Rudolf A. Kley, Yvonne Leber
مصطلحات موضوعية: Adult, Male, Filamins, Biology, Protein aggregation, Protein degradation, Filamin, Muscular Dystrophies, Contractile Proteins, medicine, Myotilin, Humans, FLNC, Myopathy, Muscle, Skeletal, Actin, Heat-Shock Proteins, Microfilament Proteins, Ubiquitination, Original Articles, Middle Aged, Molecular biology, Actins, Pedigree, Phenotype, Mutation, Proteolysis, Disease Progression, Desmin, Female, Neurology (clinical), medicine.symptom, Protein Binding
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20573709de062a3e5ab1eb3d77cab6ebTest
https://europepmc.org/articles/PMC3437028Test/ -
2
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/ -
3
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: Ana Cabello, Iris de la Puerta, Montse Olivé, Pilar Larrodé, Aleksey Shatunov, Lev G. Goldfarb, Gerard Piñol-Ripoll, Feliciano J. Ramos, Juana Pelegrín
المصدر: Recercat. Dipósit de la Recerca de Catalunya
instname
Dipòsit Digital de la UB
Universidad de Barcelonaمصطلحات موضوعية: medicine.medical_specialty, Weakness, Myocardiopathies, DNA Mutational Analysis, Cardiomyopathy, Miocardiopaties, Neurological examination, Biology, Article, Desmin, Electrocardiography, Atrophy, Internal medicine, medicine, Humans, Age of Onset, Genetics (clinical), Sequence Deletion, Muscle biopsy, medicine.diagnostic_test, Muscles, Homozygote, Restrictive cardiomyopathy, Infant, Heart, medicine.disease, Defibrillators, Implantable, Infart de miocardi, Myocardial infarction, Neurology, Pediatrics, Perinatology and Child Health, Cardiology, Female, Neurology (clinical), Age of onset, medicine.symptom, Cardiomyopathies
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e565f823fc7136b81ae2ab6300130ac4Test
http://hdl.handle.net/2445/124329Test -
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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: 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