Results 211 to 220 of about 336,415 (272)

CRPPA exon 6–9 deletion as a founder mutation in Chinese patients with dystroglycanopathy

open access: yesPediatric Investigation, EarlyView.
Analysis of sixteen Chinese dystroglycanopathy patients reveals a founder mutation (CRPPA exon 6–9 deletion) in 25% of cases and expands the phenotypic spectrum from severe muscle‐eye‐brain disease to limb‐girdle muscular dystrophy. ABSTRACT Importance Dystroglycanopathies (DGPs) are a group of muscular dystrophies with abnormal glycosylation of ...
Jihang Luo   +18 more
wiley   +1 more source

Overall outcome, functioning, and disability in older adults 3 to 14 years after traumatic brain injury

open access: yesPM&R, EarlyView.
Abstract Background Epidemiological studies show an increasing incidence of traumatic brain injury (TBI) among people aged 65 years and older. Advances in neurointensive care have improved survival after TBI. There is a need for knowledge about long‐term outcome after TBI among older survivors of TBI.
Charlotta von Seth   +4 more
wiley   +1 more source

Long-read structural variant discovery and targeted short read genotyping enables population scale characterization of structural variation in rhesus macaques. [PDF]

open access: yesGenome Biol
Ray K   +9 more
europepmc   +1 more source

A manifesto for plant science education

open access: yesPLANTS, PEOPLE, PLANET, EarlyView.
Plants provide oxygen, food, shelter, medicines and environmental services, without which human society could not exist. Tackling pressing and global challenges requires well‐trained plant scientists and plant‐aware individuals. This manifesto provides a practical evidence‐based vision to strengthen plant science education, focussed on five strategic ...
Elizabeth Alvey   +42 more
wiley   +1 more source

A case of ROS1‐rearranged lung adenocarcinoma in a young man with multiple serosal effusions: Diagnostic pitfalls in pericardial fluid cytology

open access: yesPrecision Medical Sciences, EarlyView.
Abstract ROS1‐rearranged lung adenocarcinoma is a rare subset of non‐small‐cell lung cancer, typically occurring in young never‐smokers. Its occurrence in very young men with a fluid‐dominant presentation is unusual and may lead to diagnostic pitfalls.
Thanh Thao Nguyen   +4 more
wiley   +1 more source

QSP Modeling Shows Pathological Synergism Between Insulin Resistance and Amyloid‐Beta Exposure in Upregulating VCAM1 Expression at the BBB Endothelium

open access: yesCPT: Pharmacometrics &Systems Pharmacology, Volume 14, Issue 3, Page 561-571, March 2025.
ABSTRACT Type 2 diabetes mellitus (T2DM), characterized by insulin resistance, is closely associated with Alzheimer's disease (AD). Cerebrovascular dysfunction is manifested in both T2DM and AD, and is often considered as a pathological link between the two diseases.
Zengtao Wang   +6 more
wiley   +1 more source

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