Results 121 to 130 of about 2,099,771 (306)
Clinically Relevant Outcome Measures in Women With Adrenoleukodystrophy
ABSTRACT Adrenoleukodystrophy is a rare inherited peroxisomal disease caused by pathogenic variants in the ABCD1 gene located on the X chromosome. Although the most severe central nervous system and adrenal complications typically affect only men with adrenoleukodystrophy, the majority of women develop myeloneuropathy symptoms in adulthood.
Chenwei Yan +3 more
wiley +1 more source
English language examination reform: International trends and a framework for Nepal [PDF]
This chapter is based on desk research on examinations and their reforms globally. Although the chapter is about English language examination reforms, it draws on the literature related to general education where relevant. The chapter begins by exploring
Shrestha, Prithvi
core
Remote Assessment of Ataxia Severity in SCA3 Across Multiple Centers and Time Points
ABSTRACT Objective Spinocerebellar ataxia type 3 (SCA3) is a genetically defined ataxia. The Scale for Assessment and Rating of Ataxia (SARA) is a clinician‐reported outcome that measures ataxia severity at a single time point. In its standard application, SARA fails to capture short‐term fluctuations, limiting its sensitivity in trials.
Marcus Grobe‐Einsler +20 more
wiley +1 more source
The genealogy of Eastern European difference: an insider’s view [PDF]
The view of Eastern Europe as a locus of complex family organisation and familistic societal values has reached the status of general dogma in Western social sciences and demography.
Mikolaj Szoltysek
core
Value of MRI Outcomes for Preventive and Early‐Stage Trials in Spinocerebellar Ataxias 1 and 3
ABSTRACT Objective To examine the value of MRI outcomes as endpoints for preventive and early‐stage trials of two polyglutamine spinocerebellar ataxias (SCAs). Methods A cohort of 100 participants (23 SCA1, 63 SCA3, median Scale for the Assessment and Rating of Ataxia (SARA) score = 5, 42% preataxic, and 14 gene‐negative controls) was scanned at 3T up ...
Thiago J. R. Rezende +26 more
wiley +1 more source
Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann +17 more
wiley +1 more source
Clio’s talkative daughter goes digital [PDF]
__Abstract__ The introduction of the recording device at the beginning of the twentieth century not only marked a major transition in communication technology, but also paved the way for a revaluation of the oral account in Western historiography ...
Jong, F.M.G. (Franciska) de +1 more
core +1 more source
Objective This study examined the global and regional temporal changes in cross‐country inequalities of site‐specific osteoarthritis (OA) burden from 1990 to 2021. Methods Age‐standardized years lived with disability rates (ASYRs) for site‐specific OA across 204 countries and territories were obtained from the Global Burden of Diseases, Injuries, and ...
Haowei Chen +14 more
wiley +1 more source
Meiji Japan (1869-1912) was a very active period of translation and adaptation of Western texts, notably of so-called "Histories of civilization" during the first ten years of the new regime: for instance Guizot "Histoire de la civilisation en Europe" (1828) was translated, summarized or adapted several times between 1870 and 1880.
openaire +1 more source
Objective Reports have linked both high and low serum uric acid (SUA) levels to adverse health outcomes. This study aimed to establish a reference interval for SUA in older adults and assessed its association with clinically relevant outcomes in relatively healthy, community‐dwelling individuals aged ≥70 years old.
Amanda J. Rickard +15 more
wiley +1 more source

