TBK1‐Associated Primary Lateral Sclerosis Followed by Right Temporal Variant Frontotemporal Dementia
ABSTRACT We report a 58‐year‐old woman with a novel splice‐site variant in the TANK‐binding kinase 1 (TBK1:c.993–2A>C p.Ala332TyrfsTer39) who sequentially developed primary lateral sclerosis (PLS) followed by right temporal variant frontotemporal dementia (rtvFTD). Neuroimaging demonstrated right anterior temporal atrophy before cognitive symptoms, and
Tomoyasu Matsubara +18 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
Disparities in Distress Symptoms Among Cancer Inpatients, Outpatients and Relatives Through Introducing and Evaluating Digital Distress Screening. [PDF]
Dornbrach T +4 more
europepmc +1 more source
Validity of a Wearable Digital Insole for Assessing Gait ON and OFF in Parkinson's Disease
ABSTRACT Objective Gait impairment is a distinctive symptom of Parkinson's disease that negatively impact mobility. We assessed the validity of wearable digital insoles against a validated reference gait analysis system for measuring select gait characteristics in patients with Parkinson's disease. Methods A comparative analysis between digital insoles
Deborah A. Hall +16 more
wiley +1 more source
External variables influencing the attitudes of students toward AI acceptance in improving English writing: a systematic review. [PDF]
Mansoor HS, Sumardjoko B, Sutopo A.
europepmc +1 more source
The effect of perceived stress on depression in stroke: the chain mediating role of self-acceptance and self-perceived burden. [PDF]
Li B +6 more
europepmc +1 more source
Community-based multisensory environments as preventive public health interventions for mental well-being in older adults: evidence from a large-scale study in China. [PDF]
Zhang H, Zhu S.
europepmc +1 more source
Effect of death education interventions on death attitudes in medical students: systematic review and meta-analysis. [PDF]
Wang N, Wang Z.
europepmc +1 more source

