BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy
ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach+11 more
wiley +1 more source
Vibrational Properties of Doped P3HT Chains in Solution: Insight into the Doping Mechanism from Infrared IRAV and Raman RaAV Bands. [PDF]
Hu K+5 more
europepmc +1 more source
ABSTRACT Objective The cervical spinal cord (cSC) is highly relevant to clinical dysfunction in multiple sclerosis (MS) but remains understudied using quantitative magnetic resonance imaging (MRI). We assessed magnetization transfer ratio (MTR), a semi‐quantitative MRI measure sensitive to MS‐related tissue microstructural changes, in the cSC and its ...
Lisa Eunyoung Lee+26 more
wiley +1 more source
Surfactant-Enhanced Cleaning Solutions for Ceramic Membranes: A Comparative Study on Humic Acid and BSA Fouling. [PDF]
Kallapalli N, Basu OD.
europepmc +1 more source
ABSTRACT Objective Spinocerebellar ataxias (SCAs) are a group of genetically heterogeneous neurodegenerative diseases causing progressive deterioration and reduced quality of life. Therapeutic advances have been limited by a lack of sensitive anatomic, functional, or diffusion imaging‐based biomarkers.
David J. Arpin+11 more
wiley +1 more source
Modification of Peptide and Permeation Enhancer In Vitro Release Rates by Dispersion with a Gel-Forming Polymer. [PDF]
Bapat P+3 more
europepmc +1 more source
Understanding Mechanisms of Whole Brain and Regional Grey Matter Atrophy in Children With MOGAD
ABSTRACT Objective To investigate the mechanisms driving whole brain and regional grey matter (GM) volume changes along with their clinical correlates in paediatric myelin oligodendrocyte glycoprotein antibody (MOG‐Ab)–associated disease (MOGAD). Methods One‐hundred‐nine paediatric MOGAD patients from two UK centres underwent MRI at attack nadir and ...
Ermelinda De Meo+14 more
wiley +1 more source
Development of Modified Drug Delivery Systems with Metformin Loaded in Mesoporous Silica Matrices: Experimental and Theoretical Designs. [PDF]
Sha'at M+12 more
europepmc +1 more source
A global branch approach to normalized solutions for the Schrödinger equation
Louis Jeanjean+2 more
openalex +1 more source