المؤلفون: A.R. Matos, N. Sambuughin, F.D. Rumjanek, N.D. Amoedo, L.B.P. Cunha, G. Zapata-Sudo, R.T. Sudo

المصدر: Brazilian Journal of Medical and Biological Research, Vol 42, Iss 12, Pp 1218-1224 (2009)

مصطلحات موضوعية: Malignant hyperthermia, Mutation, Ryanodine receptor, Calcium channel, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2009001200016; https://doaj.org/toc/0100-879X; https://doaj.org/toc/1414-431X

URL الوصول: https://doaj.org/article/928c6b597c8142d6b760363c923e53a5

المؤلفون: Aline R. Matos, N.D. Amoedo, L.B.P. Cunha, Gisele Zapata-Sudo, N. Sambuughin, Roberto T. Sudo, F.D. Rumjanek

المصدر: Brazilian Journal of Medical and Biological Research, Volume: 42, Issue: 12, Pages: 1218-1224, Published: DEC 2009
Brazilian Journal of Medical and Biological Research v.42 n.12 2009
Brazilian Journal of Medical and Biological Research
Associação Brasileira de Divulgação Científica (ABDC)
instacron:ABDC
Brazilian Journal of Medical and Biological Research, Vol 42, Iss 12, Pp 1218-1224 (2009)

مصطلحات موضوعية: Physiology, Immunology, Biophysics, Locus (genetics), Disease, Biochemistry, Malignant hyperthermia, medicine, Missense mutation, General Pharmacology, Toxicology and Pharmaceutics, lcsh:QH301-705.5, Gene, Genetics, RYR1, lcsh:R5-920, Ryanodine receptor, business.industry, General Neuroscience, Cell Biology, General Medicine, medicine.disease, lcsh:Biology (General), Calcium channel, Mutation, lcsh:Medicine (General), business, Pharmacogenetics

وصف الملف: text/html

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0dd22fc490697f2fe32a05d8bb87867c
https://doi.org/10.1590/s0100-879x2009007500011

المؤلفون: Ning Yu, Zhongming Zhao, Elina Leskinen, Wen-Hsiung Li, Trefor Jenkins, Yunxin Fu, Takashi Kuromori, Lynn B. Jorde, Michèle Ramsay, László Patthy, N. Sambuughin

المصدر: Scopus-Elsevier

مصطلحات موضوعية: Most recent common ancestor, Asia, X Chromosome, Pan troglodytes, Demographic history, Chromosomes, Human, Pair 22, Genetics, Medical, Population, Biology, Polymerase Chain Reaction, Nucleotide diversity, Effective population size, Pongo pygmaeus, Genetic variation, Genetics, Animals, Humans, education, Molecular Biology, Ecology, Evolution, Behavior and Systematics, education.field_of_study, Gorilla gorilla, Genetic Variation, Sequence Analysis, DNA, Europe, Genetics, Population, Human evolution, Chromosomes, Human, Pair 1, Evolutionary biology, Africa, Mutation, Human genome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74cac84389f0d21956a7e1c4a8ec0c80
https://doi.org/10.1093/oxfordjournals.molbev.a003795

المؤلفون: DAMICO A, S. BENEDETTI, S. PETRINI, N. SAMBUUGHIN, R. BOLDRINI, I. MENDITTO, M. VERARDO, L. GOLDFARB, E. BERTIN, FERRARI , MAURIZIO

المساهمون: Damico, A, S., Benedetti, S., Petrini, N., Sambuughin, R., Boldrini, I., Menditto, Ferrari, Maurizio, M., Verardo, L., Goldfarb, E., Bertin

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000234313700005; journal:NEUROMUSCULAR DISORDERS; http://hdl.handle.net/20.500.11768/10890

الاتاحة: https://hdl.handle.net/20.500.11768/10890

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b99ee08fb57adcd7ba8d7ae21ce7b5a
https://doi.org/10.1212/wnl.51.2.595

المؤلفون: S, McWilliams, T, Nelson, R T, Sudo, G, Zapata-Sudo, M, Batti, N, Sambuughin

المصدر: Clinical genetics. 62(1)

مصطلحات موضوعية: Male, Amino Acid Substitution, Haplotypes, Mutation, Humans, Female, Ryanodine Receptor Calcium Release Channel, Malignant Hyperthermia, Muscle, Skeletal, Brazil, Pedigree

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::c611bc8aad74cafadf046a5376b9e3be
https://pubmed.ncbi.nlm.nih.gov/12123492

المؤلفون: N, Sambuughin, Y, Sei, K L, Gallagher, H W, Wyre, D, Madsen, T E, Nelson, J E, Fletcher, H, Rosenberg, S M, Muldoon

المصدر: Anesthesiology. 95(3)

مصطلحات موضوعية: Phenotype, Genotype, Genetic Linkage, Mutation, North America, Humans, Ryanodine Receptor Calcium Release Channel, Malignant Hyperthermia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::482412161708de5eb7fc95a248382f29
https://pubmed.ncbi.nlm.nih.gov/11575529

المؤلفون: K, Sivakumar, N, Sambuughin, B, Selenge, J W, Nagle, D, Baasanjav, L D, Hudson, L G, Goldfarb

المصدر: Annals of neurology. 45(5)

مصطلحات موضوعية: Adult, Male, Phenotype, Time Factors, Adolescent, Spastic Paraplegia, Hereditary, Mutation, Humans, Female, Exons, Age of Onset, Myelin Proteolipid Protein, Pedigree

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::16fbd851c8da889e2456999b71144c75
https://pubmed.ncbi.nlm.nih.gov/10319897

المؤلفون: A. Shatunov, J. Jankovic, R. Elble, N. Sambuughin, A. Singleton, M. Hallett, L. Goldfarb, J. J. Higgins, R. Q. Lombardi, J. Pucilowska, E. K. Tan

المصدر: Neurology. 65:1995-1995

مصطلحات موضوعية: Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::dc3fc40b7f9c959cd7562a59a5729eb4
https://doi.org/10.1212/01.wnl.0000200984.10076.e5

المؤلفون: N. Sambuughin, Y. Sei, T. Nelson, H. Rosenberg, S. Muldoon

المصدر: Anesthesiology. 93:A-111

مصطلحات موضوعية: Anesthesiology and Pain Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::afdb07c4ac25575628e8b1c3943dd866
https://doi.org/10.1097/00000542-200009001-00111

المؤلفون: Nyamkhishig Sambuughin, Enrico Bertini, I. Menditto, Stefania Petrini, Adele D'Amico, Margherita Verardo, Lev G. Goldfarb, Sara Benedetti, M. Ferrari, Renata Boldrini

المساهمون: Damico, A, S., Benedetti, S., Petrini, N., Sambuughin, R., Boldrini, I., Menditto, Ferrari, Maurizio, M., Verardo, L., Goldfarb, E., Bertin

مصطلحات موضوعية: medicine.medical_specialty, DNA Mutational Analysis, Mutation, Missense, Adipose tissue, Biology, medicine.disease_cause, Desmin, Electron Transport Complex IV, LMNA, Exon, Muscular Diseases, Myofibrils, Internal medicine, medicine, Humans, Missense mutation, Child, Myopathy, Genetics (clinical), Genetics, Mutation, integumentary system, Skeletal muscle, Exons, Lamin Type A, Immunohistochemistry, medicine.anatomical_structure, Endocrinology, Neurology, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), medicine.symptom, Lamin

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ba4766a7f2753d57c890305772da301