المؤلفون: Vsevolod A. Vladimirtsev, Raisa S. Nikitina, Neil Renwick, Anastasia A. Ivanova, Al’bina P. Danilova, Fyodor A. Platonov, Vadim G. Krivoshapkin, Catriona A. McLean, Colin L. Masters, D. Carleton Gajdusek, Lev G. Goldfarb

المصدر: Emerging Infectious Diseases, Vol 13, Iss 9, Pp 1321-1321 (2007)

مصطلحات موضوعية: Viliuisk encephalomyelitis, Yakut (Sakha) people, Siberia, Viliui River, Familial aggregation, research, Medicine, Infectious and parasitic diseases, RC109-216

وصف الملف: electronic resource

العلاقة: https://wwwnc.cdc.gov/eid/article/13/9/06-1585_articleTest; https://doaj.org/toc/1080-6040Test; https://doaj.org/toc/1080-6059Test

الوصول الحر: https://doaj.org/article/9e00c8f8bf6d48abb673f5427a6346aeTest

المؤلفون: Alexey Shatunov, Nyamkhishig Sambuughin, Joseph Jankovic, Rodger Elble, Hee Suk Lee, Andrew B. Singleton, Ayush Dagvadorj, Jay Ji, Yiping Zhang, Virginia E. Kimonis, John Hardy, Mark Hallett, Lev G. Goldfarb

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://brain.oxfordjournals.org/content/129/9/2318.full.pdfTest.

وصف الملف: application/pdf

العلاقة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.331.615Test; http://brain.oxfordjournals.org/content/129/9/2318.full.pdfTest

الإتاحة: http://brain.oxfordjournals.org/content/129/9/2318.full.pdfTest

المؤلفون: Montse Olivé, Lev G. Goldfarb, Alexey Shatunov, Dirk Fischer, Isidro Ferrer

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://brain.oxfordjournals.org/content/128/10/2315.full.pdfTest.

وصف الملف: application/pdf

العلاقة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.323.3689Test; http://brain.oxfordjournals.org/content/128/10/2315.full.pdfTest

الإتاحة: http://brain.oxfordjournals.org/content/128/10/2315.full.pdfTest

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

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

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

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/

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/

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/

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 Barcelona

مصطلحات 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