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المؤلفون: Lev G Goldfarb
المصدر: eLS
مصطلحات موضوعية: Genetics, Fatal familial insomnia, Transmissible spongiform encephalopathy, animal diseases, Disease, Biology, medicine.disease, Phenotype, nervous system diseases, PRNP, mental disorders, medicine, Coding region, Human genome, Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::073d7007da5dbcab1669d6dbdf5bb1a2Test
https://doi.org/10.1038/npg.els.0006037Test -
62
المؤلفون: Hans H. Goebel, Lev G. Goldfarb, Patrick Vicart
المصدر: eLS.
مصطلحات موضوعية: Genetics, Crystallin, Molecular pathogenesis, medicine, Cardiomyopathy, Desmin, Gene mutation, medicine.symptom, Biology, Myopathy, medicine.disease, Gene, Pathological
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::cbe2ed412bb2541cc5b1d8c1c7f8b709Test
https://doi.org/10.1038/npg.els.0006173Test -
63
المؤلفون: Gerald Pfeffer, Rolf Schröder, Rudolf A. Kley, Patrick F. Chinnery, Montse Olivé, Matthias Vorgerd, Joachim Schessl, Lev G. Goldfarb, Frank Hanisch, Hanns Lochmüller, Giorgio Tasca, Jens Reimann, Werner Stenzel, A. Maerkens, Bjarne Udd, Anna Sarkozy, Rita Barresi, Benedikt Schoser, Katrin Marcus, S. Feldkirchner, Kristl G. Claeys, Teresinha Evangelista
المصدر: Neuromuscular Disorders. 24:830
مصطلحات موضوعية: Skeletal muscle, Protein degradation, Protein aggregation, Muscle disorder, Biology, Filamin, Molecular biology, medicine.anatomical_structure, Neurology, Biochemistry, Pediatrics, Perinatology and Child Health, medicine, Desmin, Neurology (clinical), Myofibril, Genetics (clinical), Laser capture microdissection
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5837b7af8a82cb6b981527442cc3afe2Test
https://doi.org/10.1016/j.nmd.2014.06.131Test -
64
المؤلفون: Barbara W. Brandom, Joseph R. Tobin, Nyamkhishig Sambuughin, Sheila M. Muldoon, Tom E. Nelson, Astrid De Bantel, Heather Holley, Lev G. Goldfarb
المصدر: Anesthesiology. 102(3)
مصطلحات موضوعية: Genetics, RYR1, Mutation, Malignant hyperthermia, RNA, Ryanodine Receptor Calcium Release Channel, Biology, medicine.disease_cause, medicine.disease, DNA sequencing, Open Reading Frames, Anesthesiology and Pain Medicine, medicine, Coding region, Animals, Humans, Allelic heterogeneity, Genetic Predisposition to Disease, Malignant Hyperthermia, Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::733c5915d6038a1a7ff599f94e082f59Test
https://pubmed.ncbi.nlm.nih.gov/15731587Test -
65
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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66
المؤلفون: Peter F.M. van der Ven, Montse Olivé, Matthias Vorgerd, Jörg Höhfeld, Rudolf A. Kley, Lev G. Goldfarb, Dieter O. Fürst
المصدر: Autophagy. 9:422-423
مصطلحات موضوعية: Proteasome Endopeptidase Complex, Filamins, Biology, Protein aggregation, Protein degradation, Filamin, Contractile Proteins, Muscular Diseases, Myofibrils, Ubiquitin, Heat shock protein, medicine, Humans, FLNC, Muscle, Skeletal, Molecular Biology, Cells, Cultured, Heat-Shock Proteins, Microfilament Proteins, Skeletal muscle, Cell Biology, Autophagic Punctum, Cell biology, medicine.anatomical_structure, Biochemistry, Mutation, Proteolysis, biology.protein, Myofibril, Molecular Chaperones
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7f4fcfc17b0fe8cbebbdadb06571c25Test
https://doi.org/10.4161/auto.22921Test -
67
المصدر: Amyloid. 2:36-38
مصطلحات موضوعية: Apolipoprotein E, Transmissible spongiform encephalopathy, Amyloid, animal diseases, Biology, medicine.disease, Virology, nervous system diseases, mental disorders, Genotype, Internal Medicine, Kuru, medicine, lipids (amino acids, peptides, and proteins), Apolipoprotein e4, Allele
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6978aaca5d4629f57dfbe2f750a01a96Test
https://doi.org/10.3109/13506129509031886Test -
68
المؤلفون: Donna M. Krasnewich, Susan Sparks, Lev G. Goldfarb, Marjan Huizing, Ioanna Mamali, Aleksey Shatunov, Goran Rakocevic, William A. Gahl, Marinos C. Dalakas
المصدر: Molecular genetics and metabolism. 81(3)
مصطلحات موضوعية: Adult, Glycosylation, Endocrinology, Diabetes and Metabolism, Compound heterozygosity, Biochemistry, Myositis, Inclusion Body, Endocrinology, Laminin, Multienzyme Complexes, Genetics, medicine, Dystroglycan, Humans, Muscular dystrophy, Dystroglycans, Muscle, Skeletal, Molecular Biology, Extracellular Matrix Proteins, Membrane Glycoproteins, biology, Hereditary inclusion body myopathy, Skeletal muscle, Muscle weakness, Middle Aged, medicine.disease, Molecular biology, N-Acetylneuraminic Acid, Cytoskeletal Proteins, medicine.anatomical_structure, Mutation, biology.protein, Female, medicine.symptom, ITGA7, Protein Binding
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d2a93d3af3b526cc99e072e1d349a59Test
https://pubmed.ncbi.nlm.nih.gov/14972325Test -
69
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 -
70
المؤلفون: Ayush Dagvadorj, Isidro Ferrer, F Martinez, Encarna Laforet, Eva Farrero, Dolores Moreno, Josefina Alió, J.A. Martinez-Matos, Montse Olivé, Lev G. Goldfarb, Nyamkhishig Sambuughin, Patrick Vicart
المصدر: Journal of the neurological sciences. 219(1-2)
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Adolescent, Biopsy, Muscle Proteins, Nerve Tissue Proteins, Biology, medicine.disease_cause, Cataract, Desmin, Intermediate Filament Proteins, Muscular Diseases, medicine, Missense mutation, Humans, Myopathy, Child, Muscle, Skeletal, Actin, Aged, Aged, 80 and over, Mutation, Electromyography, Synemin, alpha-Crystallin B Chain, Cardiomyopathy, Hypertrophic, Middle Aged, Syncoilin, Pedigree, Heart Block, Neurology, Female, Neurology (clinical), medicine.symptom, Respiratory Insufficiency, Tomography, X-Ray Computed, Gelsolin, Protein Kinases
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90fe32572bf51c785c8920a135d39e70Test
https://pubmed.ncbi.nlm.nih.gov/15050448Test