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المؤلفون: Al’bina P. Danilova, Tatiana K. Davydova, Nyamkhishig Sambuughin, Lev G. Goldfarb, Neil Renwick, Anastasia N. Ylakhova, Camilo Toro, Raisa S. Nikitina, Fyodor A Platonov, Vladimir L. Osakovskiy, Jenny E. Hinshaw, Vsevolod A. Vladimirtsev, Anna C. Sundborger, Margarita P. Diachkovskaya, Tatiana M. Sivtseva
المصدر: BMC Neurology
مصطلحات موضوعية: Exome sequencing, Adult, Dynamins, Male, Hereditary spastic paraplegia, DNA Mutational Analysis, Clinical Neurology, Mutation, Missense, medicine.disease_cause, Dynamin II, GTP Phosphohydrolases, medicine, Missense mutation, HSP, Humans, Exome, Centronuclear myopathy, Dynamin, Genetics, Paraplegia, Family Health, Mutation, business.industry, Genetic heterogeneity, Spastic Paraplegia, Hereditary, Genetic Variation, General Medicine, DNM2, Middle Aged, medicine.disease, Endocytosis, Neuropathy, Siberia, Phenotype, Female, Neurology (clinical), business, Neuroscience, Research Article, HeLa Cells
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71fd628c702a11d5c9ca3e6cb453cb69Test
http://europepmc.org/articles/PMC4628244Test -
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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/ -
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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/ -
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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/