Perimortem laboratory investigation of genetic metabolic disorders Over 400 rare, biochemically diverse genetic metabolic disorders (inborn errors of metabolism) have been described and the list is growing by the month. Al... J Christodoulou,B Wilcken - 《Semin Neonatol》 被引量: 41发表: 2004年 ...
Genome-wide association studies (GWAS) have mapped thousands of susceptibility loci associated with immune-mediated diseases. To assess the extent of the genetic sharing across nine immune-mediated diseases we apply genomic structural equation modelling
Spanish Biomedical Research Center in Diabetes and Associated Metabolic Disorders (CIBERDEM), Barcelona, Spain Jose Ramon Bilbao Centre de recherche du Centre Hospitalier de l’Universite de Sherbrooke, Sherbrooke, Québec, Canada Catherine Allard & Pierre-Étienne Jacques Département de Biologie, Facult...
Group Information: A complete list of the members of the 23andMe Research Team, China Kadoorie Biobank Collaborative Group, and Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium appears in Supplement 8. Disclaimer: The content is solely the responsibility of the authors and...
The first study of this type was performed by Grupe et al., in which the approach used was to first generate a short list of candidate SNPs by analyzing > 17,000 SNPs in DNA pools from one set of cases and controls. In truth, this study only covers a small proportion of the genome...
Most diagnoses were non-mitochondrial disorders and included developmental disorders with intellectual disability, epileptic encephalopathies, other metabolic disorders, cardiomyopathies, and leukodystrophies. These would have been missed if a targeted approach was taken, and some have specific treatments....
(1990b) Parkinson’s disease and Alzheimer’s disease: neurodegenerative disorders due to brain antioxidant system deficiency? In: Emerit et al (Eds): Antioxidants in Therapy and Preventive Medicine, Plenum Press, New York, pp. 493–498. CrossRef Ceballos, I., Javoy-Agid, F., Delacourte...
ASO-based therapies for metabolic disorders have also been extensively investigated and three drugs have been successfully developed by the Ionis Pharmaceuticals company. These drugs reduce targeted RNAviaRNase H1-dependent degradation of the RNA/DNA hybrid. Kynamro® (Mipomersen, Ionis Pharmaceuticals),...
(ADHD, ANO, ASD, BIP, MD, OCD, SCZ, and TS) using data from GWAS meta-analyses that include large number of samples. Here, we assess the contribution of genetic variation not only of genes encoding the core participants of DA and SERT functions, but also of a comprehensive list of ...
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