Results 211 to 220 of about 324,761 (353)

Decreased metallothionein-3 expression in the human spinal cord is a common feature of amyotrophic lateral sclerosis and multiple sclerosis. [PDF]

open access: yesSci Rep
Gunn AP   +8 more
europepmc   +1 more source

Expanding the Evaluation of Skeletal Anomalies in Patients With KBG Syndrome: Recommendations for Clinical Practice

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KBG syndrome is a rare autosomal dominant neurodevelopmental disorder caused by ANKRD11 haploinsufficiency and is characterized by short stature, distinctive facial features, intellectual disability or developmental delay, congenital anomalies and skeletal anomalies.
Marit van der Leij   +5 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

Neuromyelitis optica spectrum disorders. [PDF]

open access: yesTher Adv Neurol Disord
Sahraian MA, Fujihara K.
europepmc   +1 more source

Metabolic and biochemical profiling reveals phenotypic heterogeneity in Zucker diabetic fatty rats

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Genetically uniform Zucker Diabetic Fatty (ZDF) rats spontaneously develop four distinct metabolic phenotypes despite identical housing and diet conditions. Each phenotype exhibits unique biomarker signatures encompassing glucose homeostasis, insulin secretion, polyol pathway activation, oxidative stress, inflammatory cytokines, and neurotrophic ...
Marek Lepáček   +3 more
wiley   +1 more source

Spinal cord tract diffusion tensor imaging reveals disability substrate in demyelinating disease [PDF]

open access: bronze, 2013
Robert T. Naismith   +9 more
openalex   +1 more source

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