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
Strategies and distinguishing characteristics of faculty change agents teaching public health: a study on innovative teaching in higher education. [PDF]
Weist EM +9 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
Access Challenges for Septal Reduction Therapy Among Individuals With Obstructive Hypertrophic Cardiomyopathy. [PDF]
Owens AT +8 more
europepmc +1 more source
ABSTRACT Objective Cognitive decline is a disabling and variable feature of Parkinson disease (PD). While cholinergic system degeneration is linked to cognitive impairments in PD, most prior research reported cross‐sectional associations. We aimed to fill this gap by investigating whether baseline regional cerebral vesicular acetylcholine transporter ...
Taylor Brown +6 more
wiley +1 more source
Correction: Strive for excellence: unboxing the antecedents of art design students' creativity in the learning process in China. [PDF]
Jianhao J +4 more
europepmc +1 more source
Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz +3 more
wiley +1 more source
From Foundation to Future: A Decade of Transformative Nursing Leadership and the Emergence of the Quantum Caring Leadership Academy. [PDF]
Soriano R, Sohal J.
europepmc +1 more source
Achieving excellence in construction [PDF]
The UK construction industry at its best is excellent. Nonetheless there is a deep concern that the industry as a whole is underachieving. Problems such as low and unreliable profitability, a lack of research and development, a shortage of skills ...
Amaratunga, Dilanthi +2 more
core
Location‐Specific Hematoma Volume Predicts Early Neurological Deterioration in Supratentorial ICH
ABSTRACT Objective Early neurological deterioration (END) adversely affects outcomes in patients with intracerebral hemorrhage (ICH). This study aimed to determine the location‐specific hematoma volumes for END in supratentorial ICH patients. Methods We retrospectively analyzed supratentorial ICH patients presenting from two prospective cohorts.
Zuoqiao Li +10 more
wiley +1 more source

