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: 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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc0df23e71533709a7d78919418cd592Test
https://pubmed.ncbi.nlm.nih.gov/35898174Test

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

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: 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

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 Barcelona

مصطلحات 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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af31117abee975ebc4bfe80092fe4684Test
https://doi.org/10.1016/j.jprot.2013.04.026Test

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

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: 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
instname

مصطلحات 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