BACKGROUND: Mutations in the chromodomain helicase DNA binding protein 7 gene (CHD7) lead to CHARGE syndrome, an autosomal dominant multiple malformation disorder. Proteins involved in chromatin remodeling typically act in multiprotein complexes.
Henning Urlaub +32 more
core +1 more source
Regge trajectories and mass spectrum of heavy tetraquarks
In this work, we calculated the masses of the ground and radial excited states of heavy tetraquarks in the framework of the nonrelativistic quark model for two wave states nS and nP.
A. Ghasempour, N. Tazimi, M. Monemzadeh
doaj +1 more source
Probabilistic framework for integration of mass spectrum and retention time information in small molecule identification. [PDF]
Bach E, Rogers S, Williamson J, Rousu J.
europepmc +1 more source
Multidimensional Profiling of MRI‐Negative Temporal Lobe Epilepsy Uncovers Distinct Phenotypes
ABSTRACT Objective Although hippocampal sclerosis (TLE‐HS) represents the most frequent cause of temporal lobe epilepsy (TLE), up to 30% of patients show no lesion on visual MRI inspection (TLE‐MRIneg). These cases pose diagnostic and therapeutic challenges and are underrepresented in surgical series.
Alice Ballerini +28 more
wiley +1 more source
Mass spectrum & linear perturbations of ghost-free multi-spin-2 theory
Motivated by the spin-2 nature of gravity, we consider a theory of N $$ \mathcal{N} $$ interacting spin-2 fields, formulated in terms of vielbeins, which has been argued to be free of Boulware-Deser ghost instabilities. This is the only known such theory
J. Flinckman, S. F. Hassan
doaj +1 more source
SIMSI-Transfer: Software-Assisted Reduction of Missing Values in Phosphoproteomic and Proteomic Isobaric Labeling Data Using Tandem Mass Spectrum Clustering. [PDF]
Hamood F +4 more
europepmc +1 more source
ABSTRACT Objectives Retrograde trans‐synaptic degeneration (rTSD) from posterior visual pathway lesions in multiple sclerosis (MS) is characterized by hemi‐macular ganglion cell‐inner plexiform layer (GCIPL) thinning and contralateral visual field loss.
Abdul Jaber Tayem +17 more
wiley +1 more source
Selected Ion Monitoring Using Low-Cost Mass Spectrum Detectors Provides a Rapid, General, and Accurate Method for Enantiomeric Excess Determination in High-Throughput Experimentation. [PDF]
Korch KM +5 more
europepmc +1 more source
Clinical Validation of Plasma p‐217tau in Neurological Diseases
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
SPG4 and Dementia: Expanding the Clinical Spectrum
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

