المؤلفون: Biancheri, R., Rossi, A., Verbeek, H., Schot, R., Corsolini, F., Assereto, S., Mancini, G., Verheijen, F., Minetti, C., Filocamo, M.

المصدر: Neurogenetics; Dec2005, Vol. 6 Issue 4, p195-199, 5p, 2 Charts

مصطلحات موضوعية: MAGNETIC resonance imaging, LYSOSOMAL storage diseases, SIALIC acids, NEURODEGENERATION, LYSOSOMES, PHENOTYPES

المؤلفون: Mario Manfredi, Arturo de Falco, Carlo Di Bonaventura, Salvatore Striano, Fabrizio A. de Falco, Giorgio Casari, Federico Zara, Pasquale Striano, Francesca Madia, Carlo Minetti

المساهمون: Madia, F, Striano, P, Di Bonaventura, C, de Falco, A, de Falco, Fa, Manfredi, M, Casari, GIORGIO NEVIO, Striano, S, Minetti, C, Zara, F., Striano, Pasquale, Casari, G, Striano, Salvatore

المصدر: Neurogenetics. 9(2)

مصطلحات موضوعية: Adult, Genetic Markers, Male, Benign adult familial myoclonic epilepsy, Genotype, Epilepsies, Myoclonic, Epilepsies, Biology, Adult, Chromosome Mapping, Chromosomes, Human, Pair 2, genetics, Epilepsies, Myoclonic, genetics, Female, Founder Effect, Genes, Dominant, Genetic Markers, Genotype, Haplotypes, Humans, Italy, Lod Score, Male, Mutation, Pedigree, Phenotype, Chromosomes, Cellular and Molecular Neuroscience, Genetic linkage, Genetics, medicine, Humans, Dominant, Expressivity (genetics), Genetics (clinical), Genes, Dominant, Haplotype, Autosomal dominant trait, Chromosome Mapping, Penetrance, Founder Effect, Pedigree, Phenotype, Genes, Haplotypes, Italy, Chromosomes, Human, Pair 2, Mutation, Female, medicine.symptom, Lod Score, Myoclonus, Founder effect

وصف الملف: ELETTRONICO

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e61335bed810fb86aa062a9c194de639Test
https://pubmed.ncbi.nlm.nih.gov/18231815Test