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المؤلفون: Santos, D, Coelho, T, Alves-Ferreira, M, Sequeiros, J, Mendonça, D, Alonso, I, Sousa, A, Lemos, C
المساهمون: Instituto de Investigação e Inovação em Saúde
المصدر: Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAPمصطلحات موضوعية: Adult, Male, Genes, Modifier, Portugal, Ataxin-2 / genetics, Prealbumin / genetics, Amyloid Neuropathies, Familial / genetics, Middle Aged, Prognosis, Young Adult, Trinucleotide Repeat Expansion / genetics, Asymptomatic Diseases, Humans, Female, Age of Onset, European Continental Ancestry Group / genetics
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::d5ec327a2dc30a4a0fc4ec4743b260c5
https://hdl.handle.net/10216/126969 -
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المؤلفون: Jorgensen, I. N., Skakkebæk, A., Andersen, N. H., Pedersen, L. N., Hougaard, D. M., Bojesen, A., Trolle, C., Gravholt, C. H.
المصدر: Jorgensen, I N, Skakkebæk, A, Andersen, N H, Pedersen, L N, Hougaard, D M, Bojesen, A, Trolle, C & Gravholt, C H 2015, ' Short QTc Interval in Males with Klinefelter Syndrome : Influence of CAG Repeat Length, Body Composition, and Testosterone Replacement Therapy ', Pacing and Clinical Electrophysiology, vol. 38, no. 4, pp. 472-482 . https://doi.org/10.1111/pace.12580
مصطلحات موضوعية: Male, Adult, body composition hypothalamus-pituitary-testicular axis hypogonadism cardiology ECG ANDROGEN RECEPTOR POLYMORPHISM X-CHROMOSOME INACTIVATION HEART-RATE MORTALITY PREVALENCE PHENOTYPE HORMONES MEN AGE, body composition, ECG, Incidence, Arrhythmias, Cardiac/diagnosis, Comorbidity, Testosterone/therapeutic use, hypothalamus-pituitary-testicular axis, Denmark/epidemiology, Trinucleotide Repeat Expansion/genetics, Age Distribution, Risk Factors, cardiology, Genetic Predisposition to Disease/epidemiology, Case-Control Studies, Hormone Replacement Therapy/statistics & numerical data, hypogonadism, Humans, Educational Status, cardiovascular diseases, Electrocardiography/statistics & numerical data
URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3062::27c89c481aa378da5052c5ce1f300f24
https://portal.findresearcher.sdu.dk/da/publications/abe8fb3d-25ff-4b86-8377-30cd4867c611 -
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المؤلفون: Fujigasaki, H, Verma, I C, Camuzat, A, Margolis, R L, Zander, C, Lebre, A S, Jamot, L, Saxena, R, Anand, I, Holmes, S E, Ross, C A, Dürr, A, Brice, A
المصدر: Ann Neurol. 49(1):117-21
مصطلحات موضوعية: Adult, Aged, Alleles, Cerebellar Ataxia/*genetics, Female, France, Humans, India, Male, Middle Aged, Pedigree, Trinucleotide Repeat Expansion/genetics
وصف الملف: print
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المؤلفون: Julien Niederhauser, François Spertini, Sven Bergmann, Goranka Tanackovic, Kim Ellefsen, Adriana Ransijn, Diana Marek, Stephanie Papin, Nathalie Isidor, Sébastien Jacquemont, Lucienne Poupon, Giuseppe Pantaleo, Jacques S. Beckmann
المصدر: Journal of Neuroinflammation, vol. 9, pp. 238
Journal of Neuroinflammation, Vol 9, Iss 1, p 238 (2012)
Journal of Neuroinflammationمصطلحات موضوعية: Fragile X mental retardation 1 (FMR1) gene, Adult, Male, Ataxia, Aged, Alleles, Analysis of Variance, Case-Control Studies, Cytokines, Enzyme-Linked Immunosorbent Assay, Fragile X Mental Retardation Protein/genetics, Fragile X Syndrome/genetics, Fragile X Syndrome/metabolism, Humans, Interleukin-10/metabolism, Leukocytes, Mononuclear/metabolism, Middle Aged, Regression Analysis, Severity of Illness Index, Trinucleotide Repeat Expansion/genetics, medicine.medical_treatment, Immunology, Peripheral blood mononuclear cell, lcsh:RC346-429, Fragile X Mental Retardation Protein, Cellular and Molecular Neuroscience, Fragile X-associated tremor ataxia syndrome, medicine, Allele, lcsh:Neurology. Diseases of the nervous system, Genetics, Immune activation, Research, General Neuroscience, medicine.disease, FMR1, Interleukin-10, Fragile X syndrome, Cytokine, Neurology, Fragile X Syndrome, IL-10, Leukocytes, Mononuclear, medicine.symptom, Trinucleotide Repeat Expansion, Trinucleotide repeat expansion, Psychology, Fragile X-associated tremor/ataxia syndrome
وصف الملف: application/pdf
