Results 131 to 140 of about 2,136,649 (284)

The complete mitogenome of the Mugil cephalus (Mugiliformes: Mugilidae) from the Yellow Sea, China. [PDF]

open access: yesMitochondrial DNA B Resour, 2023
Li H   +5 more
europepmc   +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

Impact of vertical stratification on the 2020 spring bloom in the Yellow Sea. [PDF]

open access: yesSci Rep, 2023
Kim GU   +10 more
europepmc   +1 more source

Gravity‐Dependent Modulation of Downbeat Nystagmus: Insights From Velocity‐Storage Dysfunction

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Downbeat nystagmus varies with head position, a phenomenon termed gravity‐dependent modulation. We aimed to clarify its mechanism using a velocity‐storage model. Methods In 10 patients with downbeat nystagmus due to cerebellar disorders, we recorded eye movements at different pitch‐ and roll‐axis head positions.
Ji‐Hyung Park   +5 more
wiley   +1 more source

Posterior Disconnection Syndrome in Early‐Stage Adult‐Onset Cerebral Adrenoleukodystrophy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adult‐onset cerebral adrenoleukodystrophy is potentially treatable but often difficult to recognize before advanced cerebral involvement. Herein, we describe three men with early‐stage disease who initially presented with subtle visual complaints rather than subcortical dementia. Targeted neuropsychological testing revealed higher‐order visual
Kazuto Katsuse   +13 more
wiley   +1 more source

Data‐Driven SuStaIn Model of Disability Progression in Amyotrophic Lateral Sclerosis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To determine whether ordinal Subtype and Stage Inference (SuStaIn) applied to routine ALSFRS‐R item scores can identify reproducible disability progression patterns in amyotrophic lateral sclerosis (ALS) and provide clinically meaningful staging.
Giammarco Milella   +5 more
wiley   +1 more source

Immunosuppressive Drug Use in Limited Systemic Sclerosis: An International Survey

open access: yesArthritis Care &Research, EarlyView.
Objective Current guidelines recommend immunosuppressive treatment for diffuse cutaneous systemic sclerosis but are less clear on their use in limited cutaneous systemic sclerosis (lcSSc) in the absence of internal organ complications. We conducted an international survey to understand current immunosuppressive drug prescribing patterns in lcSSc ...
Sabrina Hoa   +3 more
wiley   +1 more source

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