ABSTRACT Polygenic risk scores (PRS) estimate individuals' genetic risk for developing multifactorial conditions. Recent genome‐wide association studies have enabled development of psychiatric PRS, which hold potential to streamline diagnosis and treatment of psychiatric conditions.
Lauren A. Ginn +11 more
wiley +1 more source
Challenging or less challenging oral diadochokinetic tasks-what works best in Huntington disease? A cross-sectional study. [PDF]
Hannemann W +10 more
europepmc +1 more source
Kat5 cKO mouse replicates biological domain signatures associated with Alzheimer's disease
Abstract INTRODUCTION Alzheimer's disease (AD) can be caused by autosomal‐dominant familial Alzheimer's disease (FAD) mutations in amyloid precursor protein (APP) or presenilin‐1 and 2, which form an enzyme substrate complex. KAT5 binds to the APP intracellular domain.
Greg A Cary +15 more
wiley +1 more source
Sequence Variants in Small CAG Repeat Expansions of the <i>HTT</i> Gene and Disease Onset and Progression in Huntington Disease. [PDF]
Heinzmann A +15 more
europepmc +1 more source
Humanistic Burden of Huntington Disease: Evidence From the Huntington Disease Burden of Illness Study. [PDF]
Rodriguez Santana I +12 more
europepmc +1 more source
Bilateral Ballismus: An Unusual Clinical Sign With an Unexpected Origin
ABSTRACT The spectrum of neurologic symptoms caused by hypoglycaemia can be remarkably broad. Thus, hypoglycemia should be considered early in the diagnostic workup of neurologic symptoms, including those that may appear atypical. Prompt glucose administration can result in rapid symptom resolution, potentially preventing costly or unnecessary invasive
S. Reichert +6 more
wiley +1 more source
Revised Diagnostic Criteria for Huntington Disease: What's It Gonna Take? [PDF]
Paulsen JS, Burks DK.
europepmc +1 more source
Disparities in Huntington Disease Severity: Analysis Using the ENROLL-HD Dataset. [PDF]
Mendizabal A +4 more
europepmc +1 more source
Redefining the role of the transfusion medicine physician in the era of advanced cellular therapies
Transfusion, EarlyView.
Eric A. Gehrie, Kevin J. Land
wiley +1 more source
Quantitative Analysis of Cytologic Features: Application to Mucoepidermoid Carcinoma
ABSTRACT Introduction Cytologic diagnosis relies on recognition of morphologic features, yet the diagnostic value of individual cytologic features or their combinations is rarely quantified. In this study, we apply a quantitative cytologic feature analysis (QCFA) approach that treats each cytologic feature as a diagnostic test with measurable ...
John Effat Bacilious Diks +3 more
wiley +1 more source

