Tauopathies are a group of neurodegenerative disorders characterized by the pathological accumulation of hyperphosphorylated and insoluble tau protein within neurons and glia. Although most cases are sporadic, hereditary tauopathies have also been reported. In this article, we review genetic disorders in wh...
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To determine the prevalence and patterns of presentation of cases with suspected genetic disorders among neonatal pediatric emergency department. A retrospective and prospective review of pediatric emergency department admissions at Al Galaa Teaching Hospital among one year; suspected infants with genetic ...
However, many patients and their families face an uphill battle, as NF is yet to be officially recognized as a rare disease in China or included in the country’s list of rare diseases. That’s why the center is using ...
A complete listing of ADNI investigators can be found at http://adni.loni.usc.edu/wp-content/uploads/how_to_apply/ADNI_Acknowledgement_List.pdf. Additional information is available in the Supplement. Correction: This article was corrected online May 19, 2015, to fix curves in Figure 3C. ...
ContextAlthough both genetic and environmental factors affect risk of individual personality disorders (PDs), we know little of how they contribute to the
Alcohol-related SNPs were associated with cardiovascular and digestive system phenotypes and disorders. Two separate studies also identified a shared risk SNP for bipolar disorder and educational attainment. This review revealed a list of reproducible SNPs worthy of future functional investigation. ...
(GBD) study11,27. GBD estimates the yearly amount of DALYs in each country that are attributable to a list of collectively exhaustive and non-overlapping diseases and injuries27. DALYs are the sum of years lived with disability (YLDs; ‘lowered quality of life’) and years of life lost (...
The Genetics of Mood Disorders. Johns Hopkins University Press; 1990. 5. Angst J, Frey R, Lohmeyer B, Zerbin-Rüdin E. Bipolar manic-depressive psychoses: results of a genetic investigation. Hum Genet. 1980;55(2):237-254. doi:10.1007/BF00291773 PubMedGoogle Scho...
This clinical population may be enriched for ultrarare and novel genetic disorders. Genome sequencing is a potentially first-tier genetic test for CMC. Introduction Children with medical complexity (CMC)1-4 have at least 1 chronic condition, technology dependence, multiple subspecialist involvement, ...