Practice Recommendations for Genetic Testing of Ataxias
ABSTRACT Objective Over the past decade, significant advances in genetic testing for ataxia have improved diagnostic accuracy, informed clinical trial eligibility, guided treatment decisions, and enabled cascade testing of at‐risk relatives. While guidance exists for other neurogenetic conditions, there are no standardized guidelines on genetic ...
Sharan R. Srinivasan+7 more
wiley +1 more source
Benchmarking Medical Information Services Beyond the Unsolicited Requests: A phactMI Benchmarking Survey. [PDF]
DeLuca MJ+9 more
europepmc +1 more source
Overview, Challenges and Future Prospects of Drug Information Services in Nepal: A Reflective Commentary. [PDF]
Shrestha S+5 more
europepmc +1 more source
Chronic Pain in Parkinson’s Disease: Prevalence, Sex Differences, Regional Anatomy and Comorbidities
Chronic pain affected 66.2% of 10,631 individuals with Parkinson's disease, with higher prevalence and severity in females. Pain most often involved the buttocks, lower back, neck, and knees, and was linked to depression, sleep disorders, and osteoarthritis.
Natalia S. Ogonowski+13 more
wiley +1 more source
Fire resistance of buildings, by V. P. Bushev, V. A. Pchelintsev, V. S. Fedorenko and D. A. I. Yakovlev; Editor V. A. Pchelintsev. an English translation of the Russian text as revised for the second edition in 1970. This translation was published by Amerind Publishing Co., Pvt. Ltd, New Delhi, 1978, available in USA from the US Department of Commerce, National Technical Information Service, Springfield, Virginia 22161. Their number: TT‐52030. In Europe it may be purchased from Anieriiid … [PDF]
A. F. Robertson
openalex +1 more source
Bridging the knowledge gap: accessibility of SRHR information, services and competences of health facilities for adolescents and their care givers in rural Eastern Uganda. [PDF]
Kagurusi P+6 more
europepmc +1 more source
Assessing a Mitochondrial Disease Treatment via a Novel Statistical Technique for Accelerometer Data
ABSTRACT Objective Therapeutic development for mitochondrial diseases, rare genetic disorders with pathogenic defects of oxidative phosphorylation, is hindered by unsatisfactory outcome measures. To address this problem, we provide the first clinical application of a novel, bias‐adjusted outcome measure of acceleration across a range of subjects ...
Ian W. McKeague+8 more
wiley +1 more source
Machine translation systems and computer dictionaries in the information service [PDF]
Ivan I. Oubine+1 more
openalex +1 more source