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المؤلفون: Cathrin M. Butefisch, Wen Wang, Monica Colucci, Shu G. Chen, Sujata Gutti, Francisco J. Moleres, Bernardino Ghetti, Lev G. Goldfarb, Zhi Liang Xie, Larisa Cervenakova, Pierluigi Gambetti, Abhik Ray-Chaudhury, Qingzhong Kong
المصدر: Journal of Neuropathology and Experimental Neurology. 65:642-651
مصطلحات موضوعية: Adult, Male, PrPSc Proteins, Amyloid, animal diseases, Molecular Sequence Data, Biology, medicine.disease_cause, Pathology and Forensic Medicine, PRNP, Cellular and Molecular Neuroscience, medicine, Animals, Gerstmann-Straussler-Scheinker Disease, Humans, Point Mutation, Amino Acid Sequence, Mutation, Point mutation, Proteolytic enzymes, Brain, Neurofibrillary tangle, General Medicine, Middle Aged, medicine.disease, Virology, Peptide Fragments, nervous system diseases, Phenotype, Neurology, Neurology (clinical), Immunostaining
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2289b9645492be7ccca7f333d06e9b79Test
https://doi.org/10.1097/01.jnen.0000228198.81797.4dTest -
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المؤلفون: Mark Hallett, FI Pagan, J Leib, A Shatunov, Andrew B. Singleton, Esteban A. Fridman, Lev G. Goldfarb
المصدر: Clinical Genetics. 66:496-501
مصطلحات موضوعية: Genetics, Haplotype, Biology, medicine.disease, Virology, nervous system diseases, PRNP, mental disorders, Gene duplication, Genotype, Spinocerebellar ataxia, medicine, Allele, Trinucleotide repeat expansion, Gene, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f566c09e4d65f33f76893a03d5e094cdTest
https://doi.org/10.1111/j.1399-0004.2004.00356.xTest -
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المؤلفون: Paul Brown, Pierluigi Gambetti, Lev G. Goldfarb, Herbert Budka, Aleksey Shatunov, Hee Suk Lee, Larisa Cervenakova, Ayush Dagvadorj, Robert B. Petersen
المصدر: Annals of Neurology. 52:355-359
مصطلحات موضوعية: Adult, Male, Amyloid, Prions, animal diseases, Biology, medicine.disease_cause, Prion Proteins, Prion Diseases, PRNP, mental disorders, medicine, Humans, Point Mutation, Protein Precursors, Child, Gene, Aged, Family Health, Genetics, Mutation, Transmissible spongiform encephalopathy, Point mutation, Haplotype, Chromosome, medicine.disease, Virology, Pedigree, nervous system diseases, Haplotypes, Neurology, Female, Neurology (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aaab98b2405791bfca89429862b6618bTest
https://doi.org/10.1002/ana.10267Test -
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المؤلفون: Jeffrey C. Long, Amos D. Korczyn, Maurizio Pocchiari, Svetlana Litvak, Teodoro del Ser, Joab Chapman, Nyamkhishig Sambuughin, Hisako Furukawa, Paul Brown, D. Carleton Gajdusek, Hai Yan Qi, Larisa Cervenakova, Hee Suk Lee, Herbert Budka, Lev G. Goldfarb
المصدر: American Journal of Human Genetics. 64(4):1063-1070
مصطلحات موضوعية: Amyloid, Linkage disequilibrium, Creutzfeldt-Jakob Disease, PRNP mutation, Prions, Prion disease, Chromosomes, Human, Pair 20, Biology, Polymorphism, Single Nucleotide, Creutzfeldt-Jakob Syndrome, Linkage Disequilibrium, Prion Proteins, PRNP, Japan, Haplotype analysis, mental disorders, Prevalence, Genetics, Humans, Point Mutation, Genetics(clinical), Europe, Eastern, Protein Precursors, Codon, Letter to the Editor, Genetics (clinical), Family Health, Geography, Mediterranean Region, Haplotype, Founder Effect, nervous system diseases, Europe, Eastern european, Haplotypes, DNA polymorphism, Jews, Mutation (genetic algorithm), Familial Creutzfeldt-Jakob, Microsatellite Repeats, Founder effect
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::341a7e710309eea6f84639387f42d8edTest
http://hdl.handle.net/2324/5542Test -
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المؤلفون: Catriona McLean, Paul Brown, Beata Sikorska, Johannes A. Hainfellner, Pawel P. Liberski, Shirley Lindenbaum, Lev G. Goldfarb
المصدر: Journal of neuropathology and experimental neurology. 71(2)
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Prions, animal diseases, Population, Disease, Neuropathology, Biology, Creutzfeldt-Jakob Syndrome, Article, Pathology and Forensic Medicine, PRNP, Cellular and Molecular Neuroscience, Genotype, Glial Fibrillary Acidic Protein, medicine, Cannibalism, Gerstmann-Straussler-Scheinker Disease, Humans, Allele, education, education.field_of_study, Transmissible spongiform encephalopathy, Kuru, Brain, General Medicine, medicine.disease, Virology, humanities, nervous system diseases, Neurology, Neurology (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e373ff0e29ed19c9be7f888ad217c97Test
https://pubmed.ncbi.nlm.nih.gov/22249461Test -
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المؤلفون: D. Carleton Gajdusek, Paul Brown, Lev G. Goldfarb, Lucila Autilio-Gambetti, Pierluigi Gambeffi, Pietro Cortelli, Pasquale Montagna, Elio Lugaresi, L. Monari, Robert B. Petersen, Massimo Tabaton
المصدر: Molecular Neurobiology. 8:99-103
مصطلحات موضوعية: Prions, Mutant, Neuroscience (miscellaneous), Biology, Creutzfeldt-Jakob Syndrome, Prion Diseases, PRNP, Cellular and Molecular Neuroscience, mental disorders, Genotype, medicine, Humans, Point Mutation, Amino Acid Sequence, Gene, Fatal familial insomnia, Genetics, Polymorphism, Genetic, Genetic heterogeneity, Point mutation, Brain, medicine.disease, Virology, nervous system diseases, Phenotype, Neurology, Tomography, Emission-Computed
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9264e7ea1b7af1b33deaaa1f76ae23d9Test
https://doi.org/10.1007/bf02780659Test -
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المؤلفون: W. Richard McCombie, Lynn R. Goldin, Larisa Cervenakova, Paul Brown, Françoise Cathala, David M. Asher, J. Kovanen, D. Carleton Gajdusek, Matti Haltia, Ana Nieto, Mark S. Godec, Lev G. Goldfarb
المصدر: Scopus-Elsevier
مصطلحات موضوعية: Adult, Male, Prions, Protein Conformation, DNA Mutational Analysis, Molecular Sequence Data, Nonsense mutation, Disease, Biology, Polymerase Chain Reaction, Creutzfeldt-Jakob Syndrome, PRNP, 03 medical and health sciences, 0302 clinical medicine, Degenerative disease, Genetic linkage, mental disorders, medicine, Humans, Genetic Predisposition to Disease, PrPC Proteins, Protein Precursors, Codon, Gene, Genes, Dominant, 030304 developmental biology, Genetics, 0303 health sciences, Base Sequence, Kuru, Nucleic acid sequence, medicine.disease, Pedigree, nervous system diseases, 3. Good health, Europe, Genes, Neurology, Mutation, Mutation (genetic algorithm), Female, Neurology (clinical), Lod Score, Polymorphism, Restriction Fragment Length, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76cb7e4ab00501b980c508e6ca5726b0Test
https://doi.org/10.1002/ana.410310308Test -
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المؤلفون: Aléna Vrbovská, Françoise Cathala, Ana Nieto, Paul Brown, C. J. Gibbs, Lev G. Goldfarb, D. Carleton Gajdusek, Michael P. Sulima
المصدر: Journal of the Neurological Sciences. 105:240-246
مصطلحات موضوعية: Male, medicine.medical_specialty, Restriction Mapping, Chromosomes, Human, Pair 20, Biology, Creutzfeldt-Jakob Syndrome, PRNP, Amyloid beta-Protein Precursor, Molecular genetics, mental disorders, medicine, Humans, Codon, Gene, Genetics, Point mutation, Electroencephalography, DNA, Middle Aged, medicine.disease, Gerstmann–Sträussler–Scheinker syndrome, Virology, Pedigree, nervous system diseases, Neurology, Mutation, Mutation (genetic algorithm), Familial Creutzfeldt-Jakob, Female, France, Neurology (clinical), Chromosome 20
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d0752ee18298dd4156fed106ea49d22Test
https://doi.org/10.1016/0022-510xTest(91)90151-v -
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المؤلفون: Lev G Goldfarb
المصدر: eLS
مصطلحات موضوعية: Genetics, Fatal familial insomnia, Transmissible spongiform encephalopathy, animal diseases, Disease, Biology, medicine.disease, Phenotype, nervous system diseases, PRNP, mental disorders, medicine, Coding region, Human genome, Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::073d7007da5dbcab1669d6dbdf5bb1a2Test
https://doi.org/10.1038/npg.els.0006037Test -
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المؤلفون: Lev G. Goldfarb
المصدر: Microbes and infection. 4(8)
مصطلحات موضوعية: New Guinea, Transmissible spongiform encephalopathy, Kuru, Prions, animal diseases, Immunology, Biology, History, 20th Century, medicine.disease, Microbiology, Virology, humanities, Genealogy, Creutzfeldt-Jakob Syndrome, nervous system diseases, PRNP, Infectious Diseases, medicine, Cannibalism, Humans
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a865ac5d3277853ccfa81dff46d33607Test
https://pubmed.ncbi.nlm.nih.gov/12270735Test