Results 201 to 210 of about 2,196,079 (289)

Kcnv2 E151X Mouse Captures Hallmarks of KCNV2‐Associated Retinal Dystrophy

open access: yesClinical &Experimental Ophthalmology, EarlyView.
ABSTRACT Background KCNV2‐associated retinopathy is a rare inherited retinal dystrophy caused by variants in the KCNV2 gene, leading to disrupted photoreceptor behaviour and progressive deterioration of vision. Patients have characteristic electroretinography abnormalities, including reduced cone response, delayed and reduced rod response to low light ...
Nermina Xhaferri   +3 more
wiley   +1 more source

Electrophysiology procedures for preventing falls in older people living in the community. [PDF]

open access: yesCochrane Database Syst Rev
Gibson K   +5 more
europepmc   +1 more source

Definition of childhood visual impairment: A systematic overview of reviews and authoritative sources across clinical, research, and policy contexts

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
Abstract Aims To identify, synthesize, and compare current terminologies and definitions of cerebral visual impairment (CVI) in children across clinical, research, educational, and policy settings. Method We conducted a systematic overview of systematic reviews and authoritative documents registered in PROSPERO (CRD420251025233) and reported in ...
Martina Micai   +9 more
wiley   +1 more source

Ion binding sites and intermediate domain closure induced by D‐serine in the GluD1 ligand‐binding domain

open access: yesThe FEBS Journal, EarlyView.
GluD1 belongs to the ionotropic glutamate receptors and has important functions in the brain and brain diseases. We report the crystal structure of the GluD1 ligand‐binding domain with D‐serine and zinc ions. MD simulations supported promiscuous binding of cations and that chloride ions play a stabilizing role. Pro725 seems to hinder interlobe closure,
Flemming Steen Jørgensen   +4 more
wiley   +1 more source

A novel rare splice variant of the human voltage‐dependent proton channel hHV1

open access: yesThe FEBS Journal, EarlyView.
Alternative splicing of the human HVCN1 gene produces a rare, very‐long proton channel isoform (hHV1‐vl) containing an additional 47 amino acids at its N terminus. This variant was detected in human tissues, including choroid plexus epithelial cells and lymphomas. Compared with the conventional long isoform (hHV1‐l), hHV1‐vl activates more slowly while
Gustavo Chaves   +7 more
wiley   +1 more source

ICE Catheter as Transesophageal Probe in Children With Congenital Heart Disease Undergoing an Electrophysiology Study. [PDF]

open access: yesJACC Case Rep
Bienjonetti-Boudreau D   +5 more
europepmc   +1 more source

Catheter Ablation: Evolution and Efficiencies

open access: yesJournal of Cardiovascular Electrophysiology, EarlyView.
ABSTRACT The present review includes a discussion the goals and pitfalls of efficiency in the medical profession, a historical perspective on the evolution of catheter ablation in the field of electrophysiology (EP), and the data regarding the relationship between efficiency and outcomes in the EP lab. Focus on efficacy is critical to maximize resource
Aravind G. Kalluri, Bradley P. Knight
wiley   +1 more source

Expanding Access to Specialized Adult Congenital Heart Disease Care Using a Hub-and-Spoke Model of Care. [PDF]

open access: yesJACC Case Rep
Bartra S   +9 more
europepmc   +1 more source

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