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1Academic Journal
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
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2
المؤلفون: André Macedo Serafim Silva, Patricia Rodrigo, Cristiane Araújo Martins Moreno, Rodrigo de Holanda Mendonça, Eduardo de Paula Estephan, Clara Gontijo Camelo, Eliene Dutra Campos, Alexandre Torchio Dias, Amom Mendes Nascimento, Leslie Domenici Kulikowski, Acary Souza Bulle Oliveira, Umbertina Conti Reed, Lev G Goldfarb, Montse Olivé, Edmar Zanoteli
المصدر: Journal of neuropathology and experimental neurology. 81(9)
مصطلحات موضوعية: Cellular and Molecular Neuroscience, Phenotype, Neurology, Mutation, Humans, Neurology (clinical), General Medicine, Cardiomyopathies, Muscle, Skeletal, Pathology and Forensic Medicine, Desmin, Retrospective Studies
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3
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
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4Academic Journal
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
وصف الملف: application/pdf
Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.331.615; http://brain.oxfordjournals.org/content/129/9/2318.full.pdf
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5Academic Journal
المؤلفون: Montse Olivé, Lev G. Goldfarb, Alexey Shatunov, Dirk Fischer, Isidro Ferrer
المساهمون: The Pennsylvania State University CiteSeerX Archives
وصف الملف: application/pdf
Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.323.3689; http://brain.oxfordjournals.org/content/128/10/2315.full.pdf
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6
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
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7
المؤلفون: P.F.M. van der Ven, Katrin Marcus, Katalin Barkovits, Hendrik Milting, Thorsten Müller, Lev G. Goldfarb, Verena Theis, Julian Uszkoreit, Montse Olivé, Jason Tonillo, A. Maerkens, Helmut E. Meyer, Matthias Vorgerd, Dieter O. Fürst, Martin Tegenthoff, Jens Reimann, A. Schreiner, Anne-Katrin Güttsches, Martin Eisenacher, Rolf Schröder, Rudolf A. Kley, Katja Kuhlmann
المصدر: Europe PubMed Central
Recercat. Dipósit de la Recerca de Catalunya
instname
Dipòsit Digital de la UB
Universidad de Barcelonaمصطلحات موضوعية: Adult, Male, Proteomics, Proteome, Muscle Fibers, Skeletal, Biophysics, Muscle Proteins, Protein aggregation, Biochemistry, Muscular Dystrophies, Article, Muscular Diseases, medicine, Mass spectrometry), Humans, Myocyte, Malalties musculars, Aged, Laser capture microdissection, Chemistry, Genetic Diseases, Inborn, Skeletal muscle, Middle Aged, FHL1, Espectrometria de masses, medicine.anatomical_structure, Mutation, Female, Desmin, Cardiomyopathies, Myofibril
وصف الملف: application/pdf
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8
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
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9Genetic 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
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10
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
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11
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
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12
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
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13
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
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14
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
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15
المؤلفون: Alexander A. Chepurnov, Fyodor A Platonov, Yevgeniy D. Savilov, Lev G. Goldfarb, Ekaterina L. Subbotina, Vadim G. Krivoshapkin, Oleg Broytman, Vladimir L. Osakovskiy, Svetlana N. Zhdanova, Hee Suk Lee, Alʼbina P. Danilova, D. Carleton Gajdusek, Ralph M. Garruto, Vsevolod A. Vladimirtsev, Raisa S. Nikitina
المصدر: Epidemiology. 21:24-30
مصطلحات موضوعية: Adult, medicine.medical_specialty, Adolescent, Epidemiology, Encephalomyelitis, Population, Viliuisk encephalomyelitis, Disease, Article, Young Adult, Humans, Medicine, Dementia, Child, education, Aged, education.field_of_study, business.industry, Outbreak, Middle Aged, medicine.disease, Siberia, Immunology, business, Encephalitis, Demography
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16
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
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17
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
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18
المؤلفون: Anna Kamińska, Agnieszka Dramińska, Aleksey Shatunov, Bertrand Goudeau, Lev G. Goldfarb, Kazuyo Takeda, Nyamkhishig Sambuughin, Anna Kostera-Pruszczyk, Patrick Vicart, Sergei V. Strelkov, Piotr Pruszczyk
المصدر: International Journal of Cardiology. 117:244-253
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, DNA Mutational Analysis, Cardiomyopathy, macromolecular substances, Transfection, medicine.disease_cause, Cell Line, Desmin, Myoblasts, Mice, Internal medicine, medicine, Animals, Humans, Point Mutation, Myopathy, Intermediate filament, Family Health, Heart Failure, Cardiomyopathy, Restrictive, Mutation, Crystallography, business.industry, Point mutation, Restrictive cardiomyopathy, Dilated cardiomyopathy, Middle Aged, musculoskeletal system, medicine.disease, Pedigree, Heart Block, Cardiology, Female, medicine.symptom, Cardiology and Cardiovascular Medicine, business
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19
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
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20
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
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