المؤلفون: Vera Y. Matrosova, Wieslaw Swietnicki, Tarina Wallace, Stephen M. Techtmann, Ernest L. Maynard, Lev G. Goldfarb, Nyamkhishig Sambuughin

المصدر: Biochemical and Biophysical Research Communications. 421:743-749

مصطلحات موضوعية: Cytoplasm, Ubiquitin-Protein Ligases, Biophysics, Muscle Proteins, Muscle disorder, Myopathies, Nemaline, medicine.disease_cause, Biochemistry, Article, Mice, Protein structure, Ubiquitin, medicine, Animals, Humans, Molecular Biology, Actin, Mutation, biology, Cell Biology, Cullin Proteins, Molecular biology, Protein Structure, Tertiary, Ubiquitin ligase, Proteasome, NIH 3T3 Cells, biology.protein, Cullin

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::558519625e4e1e96c9385be7fc47a4f6Test
https://doi.org/10.1016/j.bbrc.2012.04.074Test

المؤلفون: Kyle S. Yau, Nyamkhishig Sambuughin, Baziel G.M. van Engelen, Montse Olivé, Martin Lammens, Munkhuu Bayarsaikhan, Biljana Ilkovski, Frank L. Mastaglia, Rachael M. Duff, Shajia Lu, Vicki Fabian, Kristen J. Nowak, Phillipa J. Lamont, Padma Sivadorai, Gianina Ravenscroft, Kathryn N. North, Nigel G. Laing, Hannie Kremer, Mark R. Davis, Laura Gonzalez-Mera, Lev G. Goldfarb

المصدر: American Journal of Human Genetics, 87, 842-7
American Journal of Human Genetics, 87, 6, pp. 842-7
American Journal of Human Genetics, 87, 842-842
American Journal of Human Genetics, 87, pp. 842-842

مصطلحات موضوعية: Myofibril assembly, Genetics and epigenetic pathways of disease [NCMLS 6], Molecular Sequence Data, Mutation, Missense, Muscle Proteins, Functional Neurogenomics Human Movement & Fatigue [DCN 2], Biology, Myopathies, Nemaline, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, Nemaline myopathy, Report, Perception and Action [DCN 1], Genetics, medicine, Animals, Humans, Missense mutation, Genetics(clinical), Amino Acid Sequence, Age of Onset, Child, Nemaline bodies, Kelch protein, Genetics (clinical), Genes, Dominant, 030304 developmental biology, Functional Neurogenomics Renal disorder [DCN 2], Chromosomes, Human, Pair 15, 0303 health sciences, Mutation, Sequence Homology, Amino Acid, Gigaxonin, medicine.disease, Immunohistochemistry, Congenital myopathy, Genetics and epigenetic pathways of disease Functional Neurogenomics [NCMLS 6], Erratum, Functional Neurogenomics [DCN 2], 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cf0effc68612d605081cf859a93c706Test
https://doi.org/10.1016/j.ajhg.2010.10.020Test

المؤلفون: Cathrin M. Butefisch, Wen Wang, Monica Colucci, Shu G. Chen, Sujata Gutti, Francisco J. Moleres, Bernardino Ghetti, Lev G. Goldfarb, Zhi Liang Xie, Larisa Cervenakova, Pierluigi Gambetti, Abhik Ray-Chaudhury, Qingzhong Kong

المصدر: Journal of Neuropathology and Experimental Neurology. 65:642-651

مصطلحات موضوعية: Adult, Male, PrPSc Proteins, Amyloid, animal diseases, Molecular Sequence Data, Biology, medicine.disease_cause, Pathology and Forensic Medicine, PRNP, Cellular and Molecular Neuroscience, medicine, Animals, Gerstmann-Straussler-Scheinker Disease, Humans, Point Mutation, Amino Acid Sequence, Mutation, Point mutation, Proteolytic enzymes, Brain, Neurofibrillary tangle, General Medicine, Middle Aged, medicine.disease, Virology, Peptide Fragments, nervous system diseases, Phenotype, Neurology, Neurology (clinical), Immunostaining

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2289b9645492be7ccca7f333d06e9b79Test
https://doi.org/10.1097/01.jnen.0000228198.81797.4dTest

المؤلفون: Rolf Schröder, Olli Carpén, Isidro Ferrer, Mike P. Wattjes, Bertrand Goudeau, Thomas Kral, Montse Olivé, Patrick Vicart, Dirk Fischer, Petra Badorf, Christoph S. Clemen, Udo Roth, Julia Reichelt, Lev G. Goldfarb, Monica Moza, Götz Lutterbey, Dieter O. Fürst, Peter F.M. van der Ven

المصدر: Neuromuscular Disorders. 16:361-367

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Muscle Fibers, Skeletal, Mutation, Missense, Muscle Proteins, Transfection, Cell Line, Desmin, Myositis, Inclusion Body, Pathogenesis, Cricetinae, medicine, Animals, Humans, Missense mutation, Myotilin, Connectin, Age of Onset, Muscular dystrophy, Myopathy, Cytoskeleton, Genetics (clinical), Genetics, biology, Microfilament Proteins, Middle Aged, medicine.disease, Distal Myopathies, Cytoskeletal Proteins, Phenotype, Gene Expression Regulation, Neurology, Pediatrics, Perinatology and Child Health, biology.protein, Titin, Neurology (clinical), medicine.symptom, Limb-girdle muscular dystrophy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb7f6d90c97bd4175b1b047a8ee4fc58Test
https://doi.org/10.1016/j.nmd.2006.03.007Test

المؤلفون: Aleksey Shatunov, Patrick Vicart, Lev G. Goldfarb, Marinos C. Dalakas, Montse Olivé, Isidro Ferrer, Ayush Dagvadorj, Anna Fidziańska, Monique Simon-Casteras, Hubert Kwieciński, Anna Kamińska, Bertrand Goudeau, Sergei V. Strelkov

المصدر: Human Genetics. 114:306-313

مصطلحات موضوعية: Adult, Male, Models, Molecular, Molecular Sequence Data, Muscle Fibers, Skeletal, macromolecular substances, Biology, Transfection, medicine.disease_cause, Desmin, Cricetinae, Genetics, medicine, Animals, Humans, Intermediate Filament Protein, Myocyte, Amino Acid Sequence, Musculoskeletal Diseases, Muscle, Skeletal, Myopathy, Genetics (clinical), Sequence Deletion, Mutation, Sequence Homology, Amino Acid, Myocardium, Middle Aged, Molecular biology, Human genetics, Pedigree, Heptad repeat, Female, medicine.symptom, Cardiomyopathies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f433619ab8d4eae65474c47291e94084Test
https://doi.org/10.1007/s00439-003-1057-7Test

المؤلفون: Matthias Vorgerd, Peter F.M. van der Ven, Lev G. Goldfarb, Montse Olivé, Rudolf A. Kley, Dieter O. Fürst

المصدر: Dipòsit Digital de la UB
Universidad de Barcelona
Recercat. Dipósit de la Recerca de Catalunya
instname

مصطلحات موضوعية: Distròfia muscular, Pathology, medicine.medical_specialty, Filamins, Nonsense mutation, Biology, Filamin, Article, Pathology and Forensic Medicine, Cellular and Molecular Neuroscience, Contractile Proteins, Muscular Diseases, medicine, Animals, Humans, Myocyte, FLNC, Myopathy, Malalties musculars, Microfilament Proteins, medicine.disease, Muscular dystrophy, Phenotype, Mutation, Neurology (clinical), medicine.symptom, Haploinsufficiency, Myofibril, Limb-girdle muscular dystrophy

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d673ac0a2ba239901cb87f704bcd070Test
http://hdl.handle.net/2445/124284Test

المؤلفون: Mark S. Godec, Richard Yanagihara, Alia M. Taller, Gligić A, Tatjana Avsic-Zupanc, Lev G. Goldfarb, Shu-Yuan Xiao, David M. Asher

المصدر: Journal of Infectious Diseases. 168:750-753

مصطلحات موضوعية: Serotype, Orthohantavirus, viruses, Molecular Sequence Data, Yugoslavia, Biology, Polymerase Chain Reaction, Virus, law.invention, Viral Proteins, law, Sequence Homology, Nucleic Acid, medicine, Animals, Humans, Immunology and Allergy, Hantaan virus, Polymerase chain reaction, Hantavirus, Base Sequence, virus diseases, Sequence Analysis, DNA, medicine.disease, biology.organism_classification, Virology, Muridae, Infectious Diseases, Hemorrhagic Fever with Renal Syndrome, Autoimmune lymphoproliferative syndrome, Apodemus, RNA, Viral, Viral disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5ca0bf39055fd2bcc94298d3314b8e9Test
https://doi.org/10.1093/infdis/168.3.750Test

المؤلفون: Dmitry Goldgaber, Patrick O. Brown, H. Baron, W. R. McCombie, Gary D. Swergold, C. J. Gibbs, Peter R. Wills, Larisa Cervenakova, Lev G. Goldfarb, D. C. Gajdusek

المصدر: Scopus-Elsevier

مصطلحات موضوعية: Adult, Male, Primates, Proband, PrPSc Proteins, Prions, Molecular Sequence Data, Biology, medicine.disease_cause, Polymerase Chain Reaction, Creutzfeldt-Jakob Syndrome, Amyloid beta-Protein Precursor, mental disorders, Gene duplication, medicine, Amyloid precursor protein, Animals, Humans, Amino Acid Sequence, Crossing Over, Genetic, Cloning, Molecular, Allele, Gene, Alleles, Repetitive Sequences, Nucleic Acid, Genetics, Mutation, Multidisciplinary, Base Sequence, Brain, Middle Aged, Virology, nervous system diseases, Phenotype, Oligodeoxyribonucleotides, Familial Creutzfeldt-Jakob, biology.protein, Female, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27cbb19b4e187bd4dd5ce004cf31ae36Test
https://doi.org/10.1073/pnas.88.23.10926Test

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

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/