Results 111 to 120 of about 5,021,221 (346)

Influence of Dystrophin Isoform Deficiency on Motor Development in Duchenne Muscular Dystrophy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective In Duchenne muscular dystrophy (DMD), lack of the shorter dystrophin isoforms Dp140 and Dp71 is associated with increased central nervous system (CNS) involvement. We aimed to investigate how CNS involvement affects motor development in young DMD boys.
Mary Chesshyre   +152 more
wiley   +1 more source

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

Performance of Composite Endpoints Defining Progression Independent of Relapse Activity in Multiple Sclerosis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The characteristics and utility of composite progression independent of relapse activity (cPIRA; worsening on the Expanded Disability Status Scale [EDSS], or 9‐Hole Peg Test, or Timed 25‐Foot Walk Test) were evaluated as an endpoint in relapsing multiple sclerosis (RMS) trials using the ENSEMBLE (NCT03085810) and pooled OPERA I/II ...
Ludwig Kappos   +11 more
wiley   +1 more source

Continuous Monitoring of Bladder Dysfunction in People With Multiple Sclerosis: Wearables for the Bladder

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Bladder dysfunction affects over 85% of people with multiple sclerosis (PwMS), yet current assessment methods are limited to periodic in‐clinic evaluations or subjective patient reports, failing to capture real‐world symptom fluctuations.
Valerie J. Block   +8 more
wiley   +1 more source

Cervical Spinal Cord Magnetization Transfer Ratio and Its Relationship With Clinical Outcomes in Multiple Sclerosis

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

Grand Challenges in Biomedical Physics

open access: yesFrontiers in Physics, 2013
David William Townsend   +6 more
doaj   +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

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