Novel Phenotypes and Deep Intronic Variant Expand TH‐Associated Dopa‐Responsive Dystonia Spectrum
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Approximately 20% of dopa‐responsive dystonia (DRD) cases remain genetically unresolved. Using whole‐genome sequencing, we identified two TH variants in a young DRD patient, including a novel deep intronic variant. Minigene assays confirmed that this variant causes aberrant splicing.
Xiaosheng Zheng +6 more
wiley +1 more source
An ensemble model for predicting dyslipidemia using 3-years continuous physical examination data. [PDF]
Front PhysiolZhang N +7 more
europepmc +1 more source
The effect on medical students of repetition of a physical examination routine
, 1976 David M. Klachko, Jacqueline Reid
openalex +1 more source
Family physicians fail to be consistent when it comes to performing physical examinations [PDF]
, 1993 openalex +1 more source
Early BMI Change, Cognitive Decline, and CSF AD Biomarkers Alterations in Parkinson's Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To examine the relationship of early BMI change with subsequent cognitive decline, CSF AD biomarkers alterations, and progression to dementia in patients with PD. Methods Study data were prospectively collected from the PPMI cohort. Weight/height data at enrollment and second‐year clinical visit were utilized to calculate BMI change.
Rui Zhong, Kezhong Zhang
wiley +1 more source
Correlation of risk factors for ischemic stroke with uric acid/creatinine ratio and cerebral vascular hemodynamic index (CVHI) in physical examination population. [PDF]
Pak J Med SciBai X, Wang H, Li J, Xu J, Cai P.
europepmc +1 more source
The result of physical examination on workers in a Cd-smelter
, 1970 Yotaro Sudo
openalex +2 more sources
Textbook of Physical Diagnosis, History and Examination [PDF]
, 1995 David P. Shreiner
openalex +1 more source
Diagnostic Challenge in Frontal Variant Alzheimer's Disease With Low Amyloid‐β PET Retention
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Diagnosing frontal variant Alzheimer's disease (fvAD) is difficult and could be even more difficult when amyloid‐beta (Aβ) PET retention is low. A 63‐year‐old woman presenting with a 3‐year history of apathy and memory impairment showed executive dysfunction, memory impairment, and severe bilateral frontotemporal atrophy on MRI.
Ryosuke Shimasaki +5 more
wiley +1 more source