Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
Towards chemical structure resolution with nanoscale nuclear magnetic resonance spectroscopy
Nuclear magnetic resonance (NMR) spectroscopy has approached the limit of single molecule sensitivity, however the spectral resolution is currently insufficient to obtain detailed information on chemical structure and molecular interactions.
Du, Jiangfeng +4 more
core +1 more source
Cardiac magnetic resonance spectroscopy
This review describes recent advances in cardiac magnetic resonance spectroscopy (MRS). MRS allows noninvasive characterization of the metabolic state of cardiac muscle, in both animal and human models. Recent experimental MRS studies have allowed new insights into the essential role of energetics in heart failure. Various new studies suggest a rapidly
openaire +3 more sources
CSF Monoamine Metabolites and Cognitive Trajectory in Early Parkinson's Disease
ABSTRACT Background Imaging and postmortem studies indicate that abnormalities in monoaminergic neurotransmission contribute to cognitive impairment in Parkinson's disease (PD). However, it remains uncertain if cerebrospinal fluid (CSF) monoamine metabolites can serve as biomarkers of cognitive decline in early PD.
Jing‐Yu Shao +7 more
wiley +1 more source
Detection of Metabolites by Proton Ex Vivo NMR, in Vivo MR Spectroscopy Peaks and Tissue Content Analysis: Biochemical-Magnetic Resonance Correlation: Preliminary Results [PDF]
*Aim*: Metabolite concentrations by in vivo magnetic resonance spectroscopy and ex vivo NMR spectroscopy were compared with excised normal human tissue relaxation times and tissue homogenate contents. *Hypothesis*: Biochemical analysis
Arun Agrawala +2 more
core +1 more source
Weak magnetic anisotropy in GdRh$_2$Si$_2$ studied by magnetic resonance
The antiferromagnetically (AFM) ordered state of GdRh$_{2}$Si$_{2}$ which consists of AFM-stacked ferromagnetic layers is investigated by magnetic resonance spectroscopy.
Hofmann-Kliemt, M. +3 more
core +1 more source
Hadamard NMR spectroscopy for two-dimensional quantum information processing and parallel search algorithms [PDF]
Hadamard spectroscopy has earlier been used to speed-up multi-dimensional NMR experiments. In this work we speed-up the two-dimensional quantum computing scheme, by using Hadamard spectroscopy in the indirect dimension, resulting in a scheme which is ...
Anderson +47 more
core +2 more sources
ABSTRACT Background Central nervous system (CNS) inflammatory demyelinating syndromes, including multiple sclerosis (MS), aquaporin‐4 antibody–positive neuromyelitis optica spectrum disorder (AQP4 + NMOSD), and myelin oligodendrocyte glycoprotein (MOG) antibody–associated disease (MOGAD), occasionally overlap.
Bade Gulec +6 more
wiley +1 more source
Characterization of the interaction between human cytochrome c and transfer RNAphe
Cytochrome c (cyt c) is released from mitochondria into the cytosol upon apoptotic stimulation, ultimately triggering programmed cell death. Recent studies have revealed that transfer RNA (tRNA) interacts with cyt c, impeding the formation of the ...
Guangqing Zhang +6 more
doaj +1 more source
Resonant demagnetization of a dipolar BEC in a 3D optical lattice [PDF]
We study dipolar relaxation of a chromium BEC loaded into a 3D optical lattice. We observe dipolar relaxation resonances when the magnetic energy released during the inelastic collision matches an excitation towards higher energy bands. A spectroscopy of
Chotia, A. +6 more
core +4 more sources

