Results 211 to 220 of about 2,248,102 (350)

BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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

Fixel‐Based Analysis of Diffusion Imaging as a Quantitative Marker of Disease State in Spinocerebellar Ataxia

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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

Real Time Distributed Content Rendering Technique based on Agent-mediator Communication Framework for Multi-display Systems

open access: hybrid, 2014
Fahad   +10 more
openalex   +1 more source

Timing and Predictive Value of Clinical Conditions Preceding Multiple Sclerosis in the UK Biobank

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Multiple sclerosis (MS) patients often experience a higher incidence of clinical conditions before diagnosis, suggesting a prodromal phase. However, their predictive value and temporal trajectories remain underexplored. We investigated these aspects using the large UK Biobank's population‐based cohort, which provided clinical ...
Andrea Nova   +5 more
wiley   +1 more source

3DZSignDB: 3D avatar SigML data for Algerian sign language. [PDF]

open access: yesData Brief
Zerrouki T   +3 more
europepmc   +1 more source

Understanding Mechanisms of Whole Brain and Regional Grey Matter Atrophy in Children With MOGAD

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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

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