Results 171 to 180 of about 241,752 (284)

Eye Tracking for Rehabilitation and Training in Paediatric Neurodevelopmental Disorders: A Systematic Review. [PDF]

open access: yesBrain Sci
Catalano G   +6 more
europepmc   +1 more source

Determining the Minimal Clinically Important Difference of the 40‐Item Smell Identification Test in People With Cystic Fibrosis

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis (CRS) and olfactory dysfunction (OD) are highly prevalent among people with cystic fibrosis (PwCF) and negatively impact quality of life. The 40‐item Smell Identification Test (SIT) is widely used to assess psychophysical olfaction, but a CF‐specific minimal clinically important difference (MCID) has not been ...
Eugene Oh   +34 more
wiley   +1 more source

Construction of pathogenic Sec16a mutation mouse model using CRISPR/Cas9

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Yaqiang Hu et al. engineered a pathogenic Sec16a mutant mouse model using CRISPR/Cas9 technology. They observed that the Sec16a mutant mice displayed diminished learning and memory capabilities, along with a limb‐clasping phenotype upon tail suspension.
Yaqiang Hu   +6 more
wiley   +1 more source

A Novel Acetylcholine Nanosensor for Single Vesicle Storage and Sub‐Quantal Exocytosis in Living Neurons and Organoids

open access: yesAngewandte Chemie, EarlyView.
Schematic representation of M@E@CF nanosensors for detecting vesicular storage and release in cholinergic neurons and brain organoids. (A) Nano‐tip microelectrodes modification via molds fabricated through 3D printing. (B) the reaction mechanism for acetylcholine detection at the electrode interface.
Wanying Zhu   +11 more
wiley   +2 more sources

Zebrafish and CRISPR—A synergistic approach to decipher and cure human diseases

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Zebrafish, with high genetic homology to humans, serves as a powerful vertebrate model for disease modeling and drug discovery. Integration of CRISPR/Cas9 technology enables precise genome editing, facilitating the development of translational models for human diseases.
Manikandan Sivaprakasam   +4 more
wiley   +1 more source

Neurodevelopmental disorders in south Asia: closing the evidence gap. [PDF]

open access: yesLancet Reg Health Southeast Asia
The Lancet Regional Health-Southeast Asia.
europepmc   +1 more source

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort

open access: yesAnnals of Neurology, EarlyView.
Objective Genomic sequencing leaves >50% of dystonia‐affected individuals without a diagnosis. Where DNA‐oriented approaches remain insufficient, integrating multiomics is essential to advance genome interpretation. Herein, we incorporated RNA sequencing (RNA‐seq) data from 167 patients with dystonia across a range of ages and presentations. Methods We
Alice Saparov   +42 more
wiley   +1 more source

Sex‐Specific Genetic Architecture of ALS: Evidence of a Female Protective Effect?

open access: yesAnnals of Neurology, EarlyView.
Background Amyotrophic lateral sclerosis (ALS) shows sex differences in incidence and age of onset, yet the underlying biological mechanisms remain poorly understood. Methods We investigated sex‐specific genetic architecture in an Italian ALS cohort with whole‐genome sequencing (1,333 ALS cases, 755 controls).
Maurizio Grassano   +20 more
wiley   +1 more source

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