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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: Matthias Vorgerd, Katalin Barkovits, Joachim Schessl, Anne-Katrin Güttsches, Martin Eisenacher, Rolf Schröder, Lev G. Goldfarb, Rudolf A. Kley, Julian Uszkoreit, A. Schreiner, S. Feldkirchner, Martin Tegenthoff, Montse Olivé, A. Maerkens, Dieter O. Fürst, Benedikt Schoser, P.F.M. van der Ven, Katrin Marcus, Verena Theis
المصدر: Dipòsit Digital de la UB
Universidad de Barcelona
Acta Neuropathologica Communications
Recercat. Dipósit de la Recerca de Catalunya
instnameمصطلحات موضوعية: 0301 basic medicine, Male, Proteomics, Pathology, medicine.medical_specialty, Myotilinopathy, Quantitative proteomics, Muscle Proteins, Myofibrillar myopathy, Protein aggregation, Protein degradation, Biology, Protein Aggregation, Pathological, Pathology and Forensic Medicine, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Muscular Diseases, Medizinische Fakultät, medicine, Myotilin, Humans, ddc:610, Muscle, Skeletal, Laser capture microdissection, Aged, Malalties musculars, Aged, 80 and over, Microscopy, Confocal, Mass spectrometry, Research, Skeletal muscle, Middle Aged, Immunohistochemistry, Espectrometria de masses, 030104 developmental biology, medicine.anatomical_structure, Mutation, Female, Neurology (clinical), Laser microdissection, Myofibril, Immunolocalization study, 030217 neurology & neurosurgery, Myopathies, Structural, Congenital
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db4b8a6544de5e31e0ee95eb88c65c12Test
http://hdl.handle.net/2445/126885Test -
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المؤلفون: Leigh B. Waddell, Lev G. Goldfarb, Giorgio Tasca, Bjarne Udd, Mauro Monforte, Nigel F. Clarke, Enzo Ricci, S. Aurino, Zagaa Odgerel
المصدر: Muscle & Nerve. 46:275-282
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, animal structures, Physiology, Filamins, macromolecular substances, Biology, medicine.disease_cause, Filamin, Muscular Dystrophies, Article, Cellular and Molecular Neuroscience, Contractile Proteins, Physiology (medical), medicine, Myofibrillar myopathy, Humans, FLNC, Muscle, Skeletal, Aged, Spinocerebellar Degenerations, Mutation, Muscle mri, Late-onset cerebellar ataxia, Cerebellar ataxia, Microfilament Proteins, musculoskeletal system, body regions, Neurology (clinical), medicine.symptom, tissues
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e2d910214b400103cac4af615ed05adTest
https://doi.org/10.1002/mus.23349Test -
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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 -
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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