Results 121 to 130 of about 1,490 (268)

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni   +19 more
wiley   +1 more source

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw   +5 more
wiley   +1 more source

A Review of Nanomaterials in Heavy-Oil Viscosity Reduction: The Transition from Thermal Recovery to Cold Recovery. [PDF]

open access: yesNanomaterials (Basel)
Tao Z   +9 more
europepmc   +1 more source

Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs   +7 more
wiley   +1 more source

Geological and Technical Foundations of Offshore CO<sub>2</sub> Storage in Depleted Reservoirs. [PDF]

open access: yesACS Omega
Shah MS   +6 more
europepmc   +1 more source

Quantitative MRI Uncovers Subtle Cortical Damage in Myelin Oligodendrocyte Glycoprotein Antibody‐Associated Disease

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To determine whether myelin‐sensitive quantitative MRI reveals microstructural abnormalities in normal‐appearing cortex (NACtx) in myelin oligodendrocyte glycoprotein antibody–associated disease (MOGAD), indicating that conventional MRI underestimates remission residual cortical injury.
Valentina Camera   +20 more
wiley   +1 more source

High Health Care Utilization Preceding Diagnosis With Juvenile Idiopathic Arthritis

open access: yesArthritis Care &Research, EarlyView.
Objective Although early diagnosis improves long‐term outcomes, patients with juvenile idiopathic arthritis (JIA) often experience prolonged, circuitous paths to diagnosis. To inform diagnostic improvement, we sought to characterize health care utilization in the year preceding diagnosis. Methods We identified 10,021 patients with an incident diagnosis
Anna Costello   +5 more
wiley   +1 more source

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