How to measure the effectiveness of healthcare providers acting as an 'anchor institution': a case study of the NHS in Greater Manchester, England. [PDF]
Wattal V +4 more
europepmc +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
Using Expert Elicitation and Systems Mapping to Support Social Innovation in the (Blue) Food System: The Case of the UK's Plymouth Fish Finger. [PDF]
Pettinger C +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
Novel Influence Diagnostics in Multistate Models for Breast Cancer. [PDF]
Leiva-Yamaguchi V +3 more
europepmc +1 more source
Jordan-Elbridge Central School District and Jordan-Elbridge Central School Transportation Local (T-Local), CSEA Local 1000, AFSCME, AFL-CIO, Local 834 (2013) [PDF]
core +1 more source
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
Comprehensive evaluation of telehealth outpatient stroke service in rural and remote Australia: a multicentre study protocol. [PDF]
Garcia-Esperon C +18 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
Abundance-Occupancy Relationships are Informed by Species Temporal Occupancy. [PDF]
Holian LA, Ten Caten C, Dallas TA.
europepmc +1 more source

