Results 101 to 110 of about 2,001,224 (334)

Quinidine in Treatment of Migrating Partial Seizures of Infancy

open access: yesPediatric Neurology Briefs, 2014
Investigators at Children's Hospital of Philadelphia, PA, report a 3-year-old female who had presented with seizures at 10 weeks of life.
J Gordon Millichap, John J Millichap
doaj   +1 more source

Disordered but rhythmic—the role of intrinsic protein disorder in eukaryotic circadian timing

open access: yesFEBS Letters, EarlyView.
Unstructured domains known as intrinsically disordered regions (IDRs) are present in nearly every part of the eukaryotic core circadian oscillator. IDRs enable many diverse inter‐ and intramolecular interactions that support clock function. IDR conformations are highly tunable by post‐translational modifications and environmental conditions, which ...
Emery T. Usher, Jacqueline F. Pelham
wiley   +1 more source

AAP Genetics Diagnostic Approach to Intellectual Disability or Global Developmental Delay

open access: yesPediatric Neurology Briefs, 2014
The American Academy of Pediatrics Committee on Genetics present a recommended clinical genetics diagnostic approach to the evaluation of intellectual disability or global developmental delays.
J Gordon Millichap, John J Millichap
doaj   +1 more source

The role of histone modifications in transcription regulation upon DNA damage

open access: yesFEBS Letters, EarlyView.
This review discusses the critical role of histone modifications in regulating gene expression during the DNA damage response (DDR). By modulating chromatin structure and recruiting repair factors, these post‐translational modifications fine‐tune transcriptional programmes to maintain genomic stability.
Angelina Job Kolady, Siyao Wang
wiley   +1 more source

Cognitive Impairments in Ataxia-Telangiectasia

open access: yesPediatric Neurology Briefs, 2014
Investigators from Massachusetts General Hospital, Boston, and centers in Frankfurt, Germany, examined 22 patients with the classic phenotype of ataxia-telangiectasia for neurocognitive features, and compared patients with early stage cerebellar disease (
J Gordon Millichap, John J Millichap
doaj   +1 more source

Integration of circadian and hypoxia signaling via non‐canonical heterodimerization

open access: yesFEBS Letters, EarlyView.
CLOCK, BMAL1, and HIFs are basic helix‐loop‐helix and Per‐Arnt‐Sim domain (bHLH‐PAS) proteins, which function as transcription factors. bHLH‐PAS proteins are designated in two classes. Many class I proteins are regulated by environmental signals via their PAS domains, but such signals have not been identified for all.
Sicong Wang, Katja A. Lamia
wiley   +1 more source

Music Affinity in Wolf-Hirschhorn Syndrome

open access: yesPediatric Neurology Briefs, 2014
Investigators at Nihon University School of Medicine, Tokyo, Japan, report two patients with Wolf-Hirschhorn syndrome (WHS) who have a strong affinity for music, not previously described as a feature of this syndrome.
J Gordon Millichap, John J Millichap
doaj   +1 more source

Phosphorylated tau in the retina correlates with tau pathology in the brain in Alzheimer’s disease and primary tauopathies

open access: green, 2022
Frederique J. Hart de Ruyter   +12 more
openalex   +2 more sources

Subclinical but high level of glycemia and platelet activity are associated with decreased structural and functional integrity in Alzheimer’s disease‐sensitive brain regions [PDF]

open access: bronze, 2021
Cassandre Palix   +12 more
openalex   +1 more source

Mechanisms of parasite‐mediated disruption of brain vessels

open access: yesFEBS Letters, EarlyView.
Parasites can affect the blood vessels of the brain, often causing serious neurological problems. This review explains how different parasites interact with and disrupt these vessels, what this means for brain health, and why these processes matter. Understanding these mechanisms may help us develop better ways to prevent or treat brain infections in ...
Leonor Loira   +3 more
wiley   +1 more source

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