Zobrazeno 1 - 10
of 57
pro vyhledávání: '"L G, GOLDFARB"'
Autor:
D G, Tikhonov, L G, Goldfarb, T S, Neustroeva, N V, Yakovleva, L F, Timofeev, I P, Luckan, F A, Platonov
Publikováno v:
Problemy sotsial'noi gigieny, zdravookhraneniia i istorii meditsiny. (6)
The article presents results of investigation of certain unclear aspects of mortality of patients with spinocerebellar ataxia type I including patients with the same number of CAG-repetitions. The analysis of mortality of patients observed from 1993
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9f0010bea55b1ee4bc6437373e844558
https://pubmed.ncbi.nlm.nih.gov/27116835
https://pubmed.ncbi.nlm.nih.gov/27116835
Autor:
Stephen J. O'Brien, Taras K. Oleksyk, A. P. Danilova, Tatyana M. Sivtseva, L. G. Goldfarb, Michael W. Smith, Sadeep Shrestha, Vladimir L. Osakovsky
Publikováno v:
European Journal of Immunogenetics. 31:121-128
Since the discovery of Viliuisk encephalomyelitis (VE) in 1887, scientists have tried to understand the natural history and aetiology of this endemic neurological disorder among the native Sakha population of Central Siberia. Familial aggregation and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0708eeea93677d9b157ee03193343c21
https://doi.org/10.1111/j.1365-2370.2004.00459.x
https://doi.org/10.1111/j.1365-2370.2004.00459.x
Autor:
L. G. Goldfarb, Yong-Xing Zhou, Shoji Tsuji, B.-X. Yang, D.-A. Wang, N. Sambuughin, Hee-Suk Lee, G.-X. Wang, W.-D. Li, L.-S. Zhou, B.-S. Tang
Publikováno v:
Neurology. 51:595-598
Sixteen patients from nine Chinese families with spinocerebellar ataxia type 2 (SCA2) were heterozygous for a CAG repeat expansion in the SCA2 gene containing 37 to 56 repeats, whereas the normal alleles carried 14 to 28 repeats. One or two CAA tripl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b99ee08fb57adcd7ba8d7ae21ce7b5a
https://doi.org/10.1212/wnl.51.2.595
https://doi.org/10.1212/wnl.51.2.595
Autor:
J. Estupinan, Hee-Suk Lee, Amos D. Korczyn, D. C. Gajdusek, Larisa Cervenakova, Patrick O. Brown, Cindy L. Vnencak-Jones, S. Richardson, J. Chapman, Robert B. Petersen, L. G. Goldfarb
Publikováno v:
Neurology. 51:548-553
Background:TheAPOEgenotype has been shown to influence the risk of developing sporadic and familial AD. This effect is isoform-dependent, theAPOEϵ4 allele increasing susceptibility and theAPOEϵ2 allele providing protection. Amyloid formation is an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c64bd9c6ec4b08604ef6383f05d1f102
https://doi.org/10.1212/wnl.51.2.548
https://doi.org/10.1212/wnl.51.2.548
Autor:
C. A. McLean, V. A. Vladimirtsev, I. A. Prokhorova, L. G. Goldfarb, D. M. Asher, A. I. Vladimirtsev, V. P. Alekseev, D. C. Gajdusek
Publikováno v:
Neuropathology and Applied Neurobiology. 23:212-217
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::90326bc2f627ff875293fb2b4f578784
https://doi.org/10.1046/j.1365-2990.1997.9098090.x
https://doi.org/10.1046/j.1365-2990.1997.9098090.x
Autor:
David A. Bennett, B. Bernard, L. G. Goldfarb, Larisa Cervenakova, P. Brown, Norman L. Foster, Elizabeth J. Cochran, K. Kenney, D. F. Benson
Publikováno v:
Neurology. 47:727-733
We report a familial form of Creutzfeldt-Jakob disease, associated with a unique insert mutation of the PRNP gene in an American family of Ukrainian origin. Ten family members exhibited early age at onset and longduration illnesses characterized prim
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::542d7b7758aa3be7d15bafcb76a9a9cb
https://doi.org/10.1212/wnl.47.3.727
https://doi.org/10.1212/wnl.47.3.727
Autor:
A. Arlazoroff, Amos D. Korczyn, D. C. Gajdusek, Larisa Cervenakova, Miriam Y. Neufeld, M. Herbert, E. Werber, Patrick O. Brown, Joab Chapman, L. G. Goldfarb
Publikováno v:
Neurology. 46:758-761
Fatal familial insomnia (FFI) has been exclusively associated with a pathogenic mutation at codon 178 in the PRNP gene coupled with methionine (Met) at codon 129. We now describe a subject with familial Creutzfeldt-Jakob disease, heterozygous for the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ea8c57dfc39e979529d8351112352b4
https://doi.org/10.1212/wnl.46.3.758
https://doi.org/10.1212/wnl.46.3.758
Autor:
K. Pettrone, Patrick O. Brown, James W. Nagle, D. C. Gajdusek, Richard Rubenstein, C. J. Gibbs, L. G. Goldfarb, M Dubnick, Larisa Cervenakova
Publikováno v:
Proceedings of the National Academy of Sciences. 91:12159-12162
Based on the analysis of genomic DNA from single healthy animals of each of five primate species, nucleotide and predicted amino acid sequences of the infectious amyloid precursor gene of higher apes (Gorilla and Pan) and Old World (Macaca) and New W
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b44d1750b3f6ac0be9fc6a5811ce019b
https://doi.org/10.1073/pnas.91.25.12159
https://doi.org/10.1073/pnas.91.25.12159
Publikováno v:
European Journal of Epidemiology. 7:494-500
In 1974-1984 30 patients died with a diagnosis of Creutzfeldt-Jakob disease (CJD) in Finland (annual mortality rate of CJD 0.9 per million population for the years 1979-1984). Six of these patients (20%) were familial, all belonging to the same kindr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29c10ac3c2e67d26844e1643eb5951ea
https://doi.org/10.1007/bf00143128
https://doi.org/10.1007/bf00143128
Publikováno v:
The Lancet. 337:1019-1022
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aeb8fc0eba2c61ad90335e67657fcfec
https://doi.org/10.1016/0140-6736(91)92670-w
https://doi.org/10.1016/0140-6736(91)92670-w