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المؤلفون: Klaus Schmierer, Masami Shizuka, Antonio Federico, Jens Volkmann, Carlos Singer, Mitchell F. Brin, R Dengler, G Sorrentino, Meiner, Jan O. Aasly, Saeed Bohlega, Guy A. Rouleau, Nicolas Dupré, Y Ikeda, Nicholas W. Wood, IR Caballero, BI Karp, Sylvain Chouinard, FC Mercado, P. C. Trevisol-Bittencourt, Paul Maddison, Andrea H. Németh, Igor Sibon, J Arpa, Anthony P. Monaco, Lev G. Goldfarb, Mitsunori Watanabe, A Storch, M. T. Dotti, LP Hiersemenzel, S Johnson, Adrian Danek, R M Chalmers, G Geraud, M Tanaka, RJ Hardie, Luca Rampoldi, A J Lees, Alexander Lossos, Saidi A Mohiddin, Lameh Fananapazir, Massimo Zeviani, Carol Dobson-Stone, Alan Fryer
المساهمون: Dobson-Stone, C., Danek, A., Rampoldi, L., Hardie, R. J., Chalmers, R. M., Wood, N. W., Bohlega, S., Dotti, M. T., Federico, A., Shizuka, M., Tanaka, M., Watanabe, M., Ikeda, Y., Brin, M., Goldfarb, L. G., Karp, B. I., Mohiddin, S., Fananapazir, L., Storch, A., Fryer, A. E., Maddison, P., Sibon, I., Trevisol-Bittencourt, P. C., Singer, C., Caballero, I. R., Aasly, J. O., Schmierer, K., Dengler, R., Hiersemenzel, L. -P., Zeviani, M., Meiner, V., Lossos, A., Johnson, S., Mercado, F. C., Sorretino, G., Dupre, N., Rouleau, G. A., Volkmann, J., Arpa, J., Lees, A., Geraud, G., Chouinard, S., Nemeth, A., Monaco, A. P.
مصطلحات موضوعية: DNA Mutational Analysis, Vesicular Transport Proteins, Biology, medicine.disease_cause, Gene product, Exon, Neuroacathocytosis, Genetic, Chorea, Choreacanthocytosis, Neuroacanthocytosis, Genetics, medicine, Missense mutation, Humans, McLeod syndrome, Polymorphism, Gene, Genetics (clinical), Chorea acanthocytosis, CHAC, Mutation, Polymorphism, Genetic, Chorein, Proteins, Exons, medicine.disease, Molecular biology, Mutational spectrum
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b604f79ba9ee6e640b9f9de2a752807fTest
https://ora.ox.ac.uk/objects/uuid:3b1ebcfc-3452-49c2-9bc1-df31e1cc6ccbTest -
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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: Jeffrey C. Long, Amos D. Korczyn, Maurizio Pocchiari, Svetlana Litvak, Teodoro del Ser, Joab Chapman, Nyamkhishig Sambuughin, Hisako Furukawa, Paul Brown, D. Carleton Gajdusek, Hai Yan Qi, Larisa Cervenakova, Hee Suk Lee, Herbert Budka, Lev G. Goldfarb
المصدر: American Journal of Human Genetics. 64(4):1063-1070
مصطلحات موضوعية: Amyloid, Linkage disequilibrium, Creutzfeldt-Jakob Disease, PRNP mutation, Prions, Prion disease, Chromosomes, Human, Pair 20, Biology, Polymorphism, Single Nucleotide, Creutzfeldt-Jakob Syndrome, Linkage Disequilibrium, Prion Proteins, PRNP, Japan, Haplotype analysis, mental disorders, Prevalence, Genetics, Humans, Point Mutation, Genetics(clinical), Europe, Eastern, Protein Precursors, Codon, Letter to the Editor, Genetics (clinical), Family Health, Geography, Mediterranean Region, Haplotype, Founder Effect, nervous system diseases, Europe, Eastern european, Haplotypes, DNA polymorphism, Jews, Mutation (genetic algorithm), Familial Creutzfeldt-Jakob, Microsatellite Repeats, Founder effect
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::341a7e710309eea6f84639387f42d8edTest
http://hdl.handle.net/2324/5542Test -
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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: 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: 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: 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/