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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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المؤلفون: 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
المصدر: Neurology. 51:595-598
مصطلحات موضوعية: Adult, Male, Heterozygote, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Genotype, Biology, Genetic determinism, Degenerative disease, Trinucleotide Repeats, mental disorders, medicine, Humans, Age of Onset, Allele, Gene, Genes, Dominant, Spinocerebellar Degenerations, Genetics, Middle Aged, medicine.disease, Phenotype, nervous system diseases, Spinocerebellar ataxia, Female, Neurology (clinical), Trinucleotide repeat expansion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b99ee08fb57adcd7ba8d7ae21ce7b5aTest
https://doi.org/10.1212/wnl.51.2.595Test -
3
المؤلفون: 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
المصدر: Neurology. 51:548-553
مصطلحات موضوعية: Apolipoprotein E, Periodicity, Genotype, Iatrogenic Disease, Biology, Creutzfeldt-Jakob Syndrome, Prion Diseases, PRNP, Apolipoproteins E, Risk Factors, mental disorders, medicine, Gerstmann-Straussler-Scheinker Disease, Humans, Allele, Alleles, Fatal familial insomnia, Kuru, Amyloidosis, medicine.disease, Virology, nervous system diseases, Mutation, Immunology, Neurology (clinical), Trinucleotide repeat expansion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c64bd9c6ec4b08604ef6383f05d1f102Test
https://doi.org/10.1212/wnl.51.2.548Test -
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المؤلفون: D. C. Gajdusek, Patrick O. Brown, Ralph M. Garruto, L. G. Goldfarb, Hee-Suk Lee, Larisa Cervenakova
مصطلحات موضوعية: Adult, Male, Amyloid, Adolescent, Genotype, Prions, Chromosomes, Human, Pair 20, Biology, Creutzfeldt-Jakob Syndrome, Prion Proteins, PRNP, chemistry.chemical_compound, Papua New Guinea, Methionine, medicine, Humans, Point Mutation, Allele, Age of Onset, Protein Precursors, Child, Codon, Retrospective Studies, Genetics, Multidisciplinary, Transmissible spongiform encephalopathy, Kuru, Genetic Variation, Valine, DNA, Biological Sciences, Middle Aged, medicine.disease, Virology, Phenotype, chemistry, Female, Age of onset
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74ecdaef1f0c722207269d2df52774c3Test
https://europepmc.org/articles/PMC23768Test/ -
5
المؤلفون: Saiid Bina, Munkhuu Bayarsaikhan, Robert T. Dirksen, Nyamkhishig Sambuughin, Hee-Suk Lee, Linda Groom, Barbara W. Brandom, Sheila M. Muldoon
المصدر: Biophysical Journal. (3):413a
مصطلحات موضوعية: RYR1, medicine.medical_specialty, Mutation, Ryanodine receptor, Protein subunit, Biophysics, Biology, musculoskeletal system, Compound heterozygosity, medicine.disease_cause, Sudden death, Endocrinology, medicine.anatomical_structure, Internal medicine, medicine, Allele, tissues, Sensitization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4afe394a903c7e82ff2b2e38d957fe78Test