Results 221 to 230 of about 264,006 (281)

Infantile‐Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24–25 Deletion: Expanding the Genotypic Spectrum

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona   +15 more
wiley   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson   +1 more
wiley   +1 more source

Arachnoid web presenting with acute myelopathy after minor trauma and subtle imaging findings: illustrative case. [PDF]

open access: yesJ Neurosurg Case Lessons
Tsukamoto S   +11 more
europepmc   +1 more source

Disrupting Child Sexual Exploitation in New South Wales: A Mixed‐Method Survey Exploring Workforce Capacities

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT Child sexual exploitation (CSE) is an insidious form of child sexual abuse (CSA) that impacts Australia's most vulnerable children and young people. Reports of CSE abuses experienced by children and young people living in out‐of‐home care (OOHC) have spurred urgent calls for improving responses to CSE in Australia.
Sarah Ciftci   +2 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

The complexity of dementia development and its comorbidities: The collaborative cross‐mouse population for multivarious tasks approach

open access: yesAnimal Models and Experimental Medicine, EarlyView.
The increasing prevalence of dementia and related neurodegenerative diseases—including Alzheimer's disease, Parkinson's disease, multiple sclerosis, and amyotrophic lateral sclerosis—poses a growing public health challenge. These conditions have traditionally been studied as isolated central nervous system disorders, but emerging evidence points to ...
Osayd Zohud   +3 more
wiley   +1 more source

Randomized Comparison of Online Motivational Themes in Clinical Trial Recruitment. [PDF]

open access: yesCirc Cardiovasc Qual Outcomes
Harry T   +9 more
europepmc   +1 more source

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