Results 111 to 120 of about 2,209,327 (291)

Tree analysis code /TRACE/ program E64106. NERVA program [PDF]

open access: yes
Computer program for Monte Carlo simulation of fault trees in analysis of large complex ...
Tayama, H. R., Throckmorton, T. N.
core   +1 more source

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz   +3 more
wiley   +1 more source

Clinical Validation of Plasma p‐217tau in Neurological Diseases

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Plasma p‐217tau is a minimally invasive but specific biomarker for diagnosing Alzheimer's disease (AD). However, its disease specificity remains to be clinically evaluated. We validated the reliability of the p‐217tau biomarker in 12 other neurological diseases.
Takeshi Kawarabayashi   +13 more
wiley   +1 more source

Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce   +72 more
wiley   +1 more source

Marine and terrestrial contributions to atmospheric deposition fluxes of methylated arsenic species

open access: yesNature Communications
Arsenic, a toxic element from both anthropogenic and natural sources, reaches surface environments through atmospheric cycling and dry and wet deposition. Biomethylation volatilizes arsenic into the atmosphere and deposition cycles it back to the surface,
Esther S. Breuninger   +12 more
doaj   +1 more source

Development of ion chromatography methods for the determination of trace anions in ultra pure water from power plants [PDF]

open access: yesJournal of the Serbian Chemical Society, 2005
A suppressed ion chromatography (IC) technique, using a carbonate/hydrogen carbonate or a hydroxide eluent, has been evaluated as a monitoring tool for the detection ofmajor anions (F-, Cl-, NO3-, PO4 3- and SO4 2-) in ultra pure water and condensed ...
DRAGANA CICKARIC   +3 more
doaj  

Carbendazim trace analysis in different samples by using nanostructured modified carbon paste electrode as voltametric sensor. [PDF]

open access: yesPLoS One, 2023
Kasaeinasab A   +5 more
europepmc   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza   +19 more
wiley   +1 more source

Trace Analysis of Emerging Virus: An Ultrasensitive ECL-Scan Imaging System for Viral Infectious Disease. [PDF]

open access: yesACS Omega, 2022
Wu Y   +9 more
europepmc   +1 more source

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