Results 191 to 200 of about 558,651 (312)

Recurrent Hypothermia and Autonomic Dysfunction Secondary to Shapiro Syndrome

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT A 44‐year‐old man presented with recurrent hypothermia, diaphoresis and hypertension. Extensive investigation for infectious, inflammatory, metabolic and endocrine aetiologies was negative. MR scan of the brain demonstrated no lesions but revealed callosal dysgenesis, consistent with Shapiro syndrome.
Naveen Kumar   +3 more
wiley   +1 more source

Reversible Enzymatic Switching of the Oxidation State of a Eu<sup>III/II</sup> Complex Controls Relaxivity. [PDF]

open access: yesJ Am Chem Soc
Sarson ET   +7 more
europepmc   +1 more source

The Highest Oxidation State of Rhodium: Rhodium(VII) in [RhO3 ]. [PDF]

open access: yesAngew Chem Int Ed Engl, 2022
da Silva Santos M   +9 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

Steering Pt Cluster Dimensionality via the Surface Oxidation State of CeO<sub>2</sub>(111) Thin Films. [PDF]

open access: yesACS Catal
Reich J   +7 more
europepmc   +1 more source

Plasma EV Proteomics Identifies ECM Remodeling and Inflammatory Proteins LUM and C7 as Candidate Biomarkers in FSHD

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit   +11 more
wiley   +1 more source

Covalent Bonding Between Ir and High-Oxidation State Sb Constrained by Quinoline Scaffolds. [PDF]

open access: yesInorg Chem
Kong F   +7 more
europepmc   +1 more source

A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Methylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to the abnormal accumulation of metabolic products such as methylmalonic acid, propionic acid,
Wei Zhao, Yingli Zhang, Hongliang Zheng
wiley   +1 more source

Oxidation states of IrOx characterised by EELS and ED-PDF [PDF]

open access: yesBIO Web of Conferences
Tran Trung-Dung, Ozkaya Dogan
doaj   +1 more source

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