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المؤلفون: Fedor Platonov, Lev G. Goldfarb
المصدر: Сибирские исследования, Vol 2, Iss 2, Pp 62-73 (2020)
مصطلحات موضوعية: 0301 basic medicine, Genetics, Spinocerebellar Ataxia Type 1, republic of sakha (yakutia), atxn1 gene, Biology, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, autosomal dominant spinocerebellar ataxia type 1 (sca1), History (General) and history of Europe, Medicine, Identification (biology), trinucleotide repeat expansion, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cda523659d7e2b25375237143f9b5686Test
https://doi.org/10.33384/26587270.2019.02.008eTest -
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المؤلفون: Oksana G. Sidorova, Dmitriy G. Tikhonov, Fedor Platonov, Tatyana S. Neustroyeva, Kathrin Tyryshkin, Neil Renwick, Sardana K. Kononova, Natalya V. Yakovleva, Valerian P. Nikolaev, Lev G. Goldfarb, Tatyana M. Sivtseva
المصدر: neurogenetics. 17:179-185
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Heterozygote, congenital, hereditary, and neonatal diseases and abnormalities, Spinocerebellar Ataxia Type 1, Population, Prevalence, Biology, Article, Birth rate, Cohort Studies, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Autosomal dominant cerebellar ataxia, Genetics, medicine, Humans, Spinocerebellar Ataxias, Selection, Genetic, Birth Rate, education, Ataxin-1, Genetics (clinical), Aged, Aged, 80 and over, education.field_of_study, Incidence, Incidence (epidemiology), Middle Aged, medicine.disease, Siberia, 030104 developmental biology, Mutation, Cohort, Spinocerebellar ataxia, Female, Genetic Fitness, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::304e72447d444808fed26b0db9cab6e9Test
https://doi.org/10.1007/s10048-016-0481-5Test -
3Genetic variants in potassium channels are associated with type 2 diabetes in a Mongolian population
المؤلفون: Purevdulam Sharavdorj, Khasag Altaisaikhan, Zagaa Odgerel, Hee S. Lee, Nyamkhishig Sambuughin, Erdenezul Jodov, Suren Gandbold, Sainbileg Sonomtseren, Lev G. Goldfarb, Narnygerel Erdenebileg, Munkhjargal Luvsanjamba
المصدر: Journal of Diabetes. 4:238-242
مصطلحات موضوعية: Genetics, education.field_of_study, Linkage disequilibrium, endocrine system diseases, Endocrinology, Diabetes and Metabolism, Population, Single-nucleotide polymorphism, Genome-wide association study, Odds ratio, Biology, education, TCF7L2, Allele frequency, Genetic association
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d85fa086925943ae8bf36c259dc96f69Test
https://doi.org/10.1111/j.1753-0407.2011.00177.xTest -
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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: 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. 842-842مصطلحات 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 -
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المؤلفون: Zagaa Odgerel, Andre Blokhin, Nyamkhishig Sambuughin, Hee-Suk Lee, Montse Olivé, Dolores Moreno, Nigel G. Laing, Laura Gonzalez-Mera, Lev G. Goldfarb
المصدر: Muscle & Nerve. 42:901-907
مصطلحات موضوعية: Genetics, Mutation, Candidate gene, Pathology, medicine.medical_specialty, Physiology, Chromosome, Biology, medicine.disease_cause, medicine.disease, Cellular and Molecular Neuroscience, Nemaline myopathy, Physiology (medical), Genotype, medicine, Neurology (clinical), Allele, medicine.symptom, Myopathy, Genotyping
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d8e8adbd41f36eeb8a8b43db513fa305Test
https://doi.org/10.1002/mus.21788Test -
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المصدر: cclm. 48:1409-1414
مصطلحات موضوعية: Sequence analysis, Filamins, Pseudogene, Clinical Biochemistry, Biology, Filamin, Exon, Contractile Proteins, Muscular Diseases, medicine, Humans, FLNC, Cloning, Molecular, Myopathy, Gene, Genetics, Base Sequence, Reverse Transcriptase Polymerase Chain Reaction, Microfilament Proteins, Biochemistry (medical), DNA, Exons, Sequence Analysis, DNA, General Medicine, Molecular diagnostics, Molecular Diagnostic Techniques, Mutation, medicine.symptom, Chromosomes, Human, Pair 7
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e17b11e8784d87b190e7a159f456cd0Test
https://doi.org/10.1515/cclm.2010.272Test -
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المؤلفون: Michel Fardeau, Montse Olivé, Francesc Miralles, L. Gonzalez, Dirk Fischer, Juan Antonio Martínez Matos, Isidre Ferrer, Aleksey Shatunov, Lev G. Goldfarb, Judith Armstrong, F Martinez, Adolf Pou
المساهمون: Universitat de Barcelona
المصدر: Recercat. Dipósit de la Recerca de Catalunya
instname
Dipòsit Digital de la UB
Universidad de Barcelonaمصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Myocardiopathies, Biopsy, Miocardiopaties, Biology, medicine.disease_cause, Article, Desmin, Myofibrils, Muscular Diseases, medicine, Humans, Speech, Myotilin, Muscle, Skeletal, Myopathy, Gene, Pathological, Genetics (clinical), Malalties musculars, Genetics, Mutation, Myocardium, Mutació (Biologia), Middle Aged, Mutation (Biology), musculoskeletal system, Phenotype, Pedigree, Genes, Neurology, Spain, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), medicine.symptom, Tomography, X-Ray Computed, Myofibril, Ankle Joint, Gens
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6b29472b96f39b1329aecffafe8ccccTest
https://doi.org/10.1016/j.nmd.2007.02.009Test -
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المؤلفون: Norbert Mücke, Michel Fardeau, Harald Bär, Aleksey Shatunov, Bertrand Goudeau, Hugo A. Katus, Sarah Wälde, Harald Herrmann, Janice L. Holton, Patrick Vicart, Charles Clarke, Monique Casteras-Simon, Y. Paul Goldberg, Bruno Eymard, Lev G. Goldfarb
المصدر: Human Mutation. 28:374-386
مصطلحات موضوعية: Adult, Male, DNA, Complementary, Molecular Sequence Data, macromolecular substances, Biology, medicine.disease_cause, Protein Structure, Secondary, Desmin, Dystrophin, Protein filament, Muscular Diseases, Genetics, medicine, Humans, Point Mutation, Intermediate Filament Protein, Myocyte, Amino Acid Sequence, Muscle, Skeletal, Cytoskeleton, Intermediate filament, Genetics (clinical), Mutation, Point mutation, alpha-Crystallin B Chain, Middle Aged, Molecular biology, Pedigree, Protein Structure, Tertiary, Mutagenesis, Site-Directed, Female, Cardiomyopathies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d601731323d66071bca3af4e42e316b6Test
https://doi.org/10.1002/humu.20459Test -
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المؤلفون: Camilo Toro, Nyamkhishig Sambuughin, Jenny E. Hinshaw, Lev G. Goldfarb, Neil Renwick, Fyodor A Platonov
المصدر: Journal of Multiple Sclerosis.
مصطلحات موضوعية: Genetics, Mutation, Hereditary spastic paraplegia, Muscle weakness, Skeletal muscle, Biology, medicine.disease, medicine.disease_cause, Pleckstrin homology domain, DNM2, Atrophy, medicine.anatomical_structure, medicine, medicine.symptom, Centronuclear myopathy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::2b1582244d9f8ee4ebd791c358a288c4Test
https://doi.org/10.4172/2376-0389.1000163Test