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1
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 -
2
المؤلفون: Ayush Dagvadorj, Isidro Ferrer, F Martinez, Encarna Laforet, Eva Farrero, Dolores Moreno, Josefina Alió, J.A. Martinez-Matos, Montse Olivé, Lev G. Goldfarb, Nyamkhishig Sambuughin, Patrick Vicart
المصدر: Journal of the neurological sciences. 219(1-2)
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Adolescent, Biopsy, Muscle Proteins, Nerve Tissue Proteins, Biology, medicine.disease_cause, Cataract, Desmin, Intermediate Filament Proteins, Muscular Diseases, medicine, Missense mutation, Humans, Myopathy, Child, Muscle, Skeletal, Actin, Aged, Aged, 80 and over, Mutation, Electromyography, Synemin, alpha-Crystallin B Chain, Cardiomyopathy, Hypertrophic, Middle Aged, Syncoilin, Pedigree, Heart Block, Neurology, Female, Neurology (clinical), medicine.symptom, Respiratory Insufficiency, Tomography, X-Ray Computed, Gelsolin, Protein Kinases
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90fe32572bf51c785c8920a135d39e70Test
https://pubmed.ncbi.nlm.nih.gov/15050448Test -
3
المؤلفون: Ana Nieto, C. J. Gibbs, Paul Brown, Sergio Gálvez, D. Carleton Gajdusek, Luis Cartier, Lev G. Goldfarb
المصدر: Journal of the Neurological Sciences. 112:65-67
مصطلحات موضوعية: Adult, Male, Population, Chromosomes, Human, Pair 20, Disease, Biology, Creutzfeldt-Jakob Syndrome, PRNP, Amyloid beta-Protein Precursor, Humans, Codon, education, Gene, Aged, Brain Chemistry, Genetics, education.field_of_study, Brain, Middle Aged, Phenotype, Pedigree, Neurology, Mutation, Mutation (genetic algorithm), Familial Creutzfeldt-Jakob, Female, Neurology (clinical), Chromosome 20, Spleen
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c174a236e60bc3df8f277af477665fb2Test
https://doi.org/10.1016/0022-510xTest(92)90133-6 -
4
المؤلفون: Daniel Friedlich, Badamjav Selenge, Marinos C. Dalakas, Kumaraswamy Sivakumar, Hee Suk Lee, Lev G. Goldfarb, Nyamkhishig Sambuughin, Damchaa Baasanjav
المصدر: Journal of the neurological sciences. 161(1)
مصطلحات موضوعية: Adult, Male, Genetic Linkage, Locus (genetics), Biology, Charcot-Marie-Tooth Disease Type 2D, Central nervous system disease, Muscular Atrophy, Spinal, Degenerative disease, Atrophy, Charcot-Marie-Tooth Disease, Chromosome Segregation, medicine, Humans, Genes, Dominant, Genetics, Haplotype, Chromosome, Chromosome Mapping, Anatomy, Middle Aged, medicine.disease, Pedigree, Neurology, Haplotypes, Female, Neurology (clinical), Chromosomes, Human, Pair 7, Recombination Fraction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44aac855a1d378f456bff193addf5298Test
https://pubmed.ncbi.nlm.nih.gov/9879677Test -
5
المؤلفون: C. J. Gibbs, W. R. McCombie, Vrbovská A, D. C. Gajdusek, H. Baron, Françoise Cathala, Lev G. Goldfarb, Paul Brown
المصدر: Journal of the neurological sciences. 111(2)
مصطلحات موضوعية: Proband, Adult, Male, Pan troglodytes, Molecular Sequence Data, Transplantation, Heterologous, Chromosomes, Human, Pair 20, Biology, medicine.disease_cause, Amyloid beta-Protein Precursor, medicine, Coding region, Animals, Gerstmann-Straussler-Scheinker Disease, Humans, Brain Tissue Transplantation, Amino Acid Sequence, Codon, Gene, Genetics, Mutation, Base Sequence, Chromosome, Haplorhini, Middle Aged, medicine.disease, Gerstmann–Sträussler–Scheinker syndrome, Virology, Pedigree, Open reading frame, Neurology, Female, Neurology (clinical), Chromosome 20
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91af71326bcb965fd72d41f5f753ae33Test
https://pubmed.ncbi.nlm.nih.gov/1431985Test